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| [ | |
| { | |
| "GBSeq_locus": "NP_056066", | |
| "GBSeq_length": "823", | |
| "GBSeq_moltype": "AA", | |
| "GBSeq_topology": "linear", | |
| "GBSeq_division": "PRI", | |
| "GBSeq_update-date": "27-SEP-2019", | |
| "GBSeq_create-date": "26-APR-2000", | |
| "GBSeq_definition": "ATM interactor isoform 1 [Homo sapiens]", | |
| "GBSeq_primary-accession": "NP_056066", | |
| "GBSeq_accession-version": "NP_056066.2", | |
| "GBSeq_other-seqids": [ | |
| "ref|NP_056066.2|", | |
| "gi|54792092" | |
| ], | |
| "GBSeq_secondary-accessions": [ | |
| "XP_375375" | |
| ], | |
| "GBSeq_keywords": [ | |
| "RefSeq", | |
| "MANE Select" | |
| ], | |
| "GBSeq_source": "Homo sapiens (human)", | |
| "GBSeq_organism": "Homo sapiens", | |
| "GBSeq_taxonomy": "Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo", | |
| "GBSeq_references": [ | |
| { | |
| "GBReference_reference": "1", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Richards T", | |
| "Modarage K", | |
| "Dean C", | |
| "McCarthy-Boxer A", | |
| "Hilton H", | |
| "Esapa C", | |
| "Norman J", | |
| "Wilson P", | |
| "Goggolidou P" | |
| ], | |
| "GBReference_title": "Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling", | |
| "GBReference_journal": "Biochim Biophys Acta Mol Basis Dis 1865 (2), 378-390 (2019)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.bbadis.2018.11.003" | |
| } | |
| ], | |
| "GBReference_pubmed": "30414501", | |
| "GBReference_remark": "GeneRIF: This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1." | |
| }, | |
| { | |
| "GBReference_reference": "2", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Liu R", | |
| "King A", | |
| "Hoch NC", | |
| "Chang C", | |
| "Kelly GL", | |
| "Deans AJ", | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "ASCIZ/ATMIN is dispensable for ATM signaling in response to replication stress", | |
| "GBReference_journal": "DNA Repair (Amst.) 57, 29-34 (2017)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.dnarep.2017.06.022" | |
| } | |
| ], | |
| "GBReference_pubmed": "28648892", | |
| "GBReference_remark": "GeneRIF: ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN." | |
| }, | |
| { | |
| "GBReference_reference": "3", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Li YJ", | |
| "Lai WT", | |
| "Chang CC", | |
| "Kuo MY", | |
| "Deng YT", | |
| "Yang CN", | |
| "Cheng SJ", | |
| "Wu TS", | |
| "Chen ST", | |
| "Lin BR" | |
| ], | |
| "GBReference_title": "Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression", | |
| "GBReference_journal": "Oral Oncol. 66, 100-107 (2017)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.oraloncology.2016.11.006" | |
| } | |
| ], | |
| "GBReference_pubmed": "28012797", | |
| "GBReference_remark": "GeneRIF: The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine" | |
| }, | |
| { | |
| "GBReference_reference": "4", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Goggolidou P", | |
| "Wilson PD" | |
| ], | |
| "GBReference_title": "Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease", | |
| "GBReference_journal": "Biochem. Soc. Trans. 44 (6), 1745-1751 (2016)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1042/BST20160124" | |
| } | |
| ], | |
| "GBReference_pubmed": "27913685", | |
| "GBReference_remark": "GeneRIF: Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.\nReview article" | |
| }, | |
| { | |
| "GBReference_reference": "5", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Leszczynska KB", | |
| "Gottgens EL", | |
| "Biasoli D", | |
| "Olcina MM", | |
| "Ient J", | |
| "Anbalagan S", | |
| "Bernhardt S", | |
| "Giaccia AJ", | |
| "Hammond EM" | |
| ], | |
| "GBReference_title": "Mechanisms and consequences of ATMIN repression in hypoxic conditions: roles for p53 and HIF-1", | |
| "GBReference_journal": "Sci Rep 6, 21698 (2016)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/srep21698" | |
| } | |
| ], | |
| "GBReference_pubmed": "26875667", | |
| "GBReference_remark": "GeneRIF: Repression of ATMIN in hypoxia is mediated by both p53 and HIF-1alpha in an oxygen dependent manner.; Publication Status: Online-Only" | |
| }, | |
| { | |
| "GBReference_reference": "6", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Kanu N", | |
| "Behrens A" | |
| ], | |
| "GBReference_title": "ATMINistrating ATM signalling: regulation of ATM by ATMIN", | |
| "GBReference_journal": "Cell Cycle 7 (22), 3483-3486 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.4161/cc.7.22.7044" | |
| } | |
| ], | |
| "GBReference_pubmed": "19001856", | |
| "GBReference_remark": "Review article" | |
| }, | |
| { | |
| "GBReference_reference": "7", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "Mdt1/ASCIZ: a new DNA damage response protein family", | |
| "GBReference_journal": "Cell Cycle 7 (17), 2654-2660 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.4161/cc.7.17.6593" | |
| } | |
| ], | |
| "GBReference_pubmed": "18728389", | |
| "GBReference_remark": "GeneRIF: ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases.\nReview article" | |
| }, | |
| { | |
| "GBReference_reference": "8", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Oka H", | |
| "Sakai W", | |
| "Sonoda E", | |
| "Nakamura J", | |
| "Asagoshi K", | |
| "Wilson SH", | |
| "Kobayashi M", | |
| "Yamamoto K", | |
| "Heierhorst J", | |
| "Takeda S", | |
| "Taniguchi Y" | |
| ], | |
| "GBReference_title": "DNA damage response protein ASCIZ links base excision repair with immunoglobulin gene conversion", | |
| "GBReference_journal": "Biochem. Biophys. Res. Commun. 371 (2), 225-229 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.bbrc.2008.04.052" | |
| } | |
| ], | |
| "GBReference_pubmed": "18433721", | |
| "GBReference_remark": "GeneRIF: These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion.; Erratum:[Biochem Biophys Res Commun. 2008 Dec 5;377(1):326]" | |
| }, | |
| { | |
| "GBReference_reference": "9", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "Kanu N", | |
| "Behrens A" | |
| ], | |
| "GBReference_title": "ATMIN defines an NBS1-independent pathway of ATM signalling", | |
| "GBReference_journal": "EMBO J. 26 (12), 2933-2941 (2007)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/sj.emboj.7601733" | |
| } | |
| ], | |
| "GBReference_pubmed": "17525732", | |
| "GBReference_remark": "GeneRIF: ATMIN defines a novel NBS1-independent pathway of ATM signalling." | |
| }, | |
| { | |
| "GBReference_reference": "10", | |
| "GBReference_position": "1..823", | |
| "GBReference_authors": [ | |
| "McNees CJ", | |
| "Conlan LA", | |
| "Tenis N", | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage", | |
| "GBReference_journal": "EMBO J. 24 (13), 2447-2457 (2005)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/sj.emboj.7600704" | |
| } | |
| ], | |
| "GBReference_pubmed": "15933716", | |
| "GBReference_remark": "GeneRIF: ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions.\nGeneRIF: ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1." | |
| } | |
| ], | |
| "GBSeq_comment": "VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC092718.3, BX343387.2, BX375235.2, CF593326.1, BC002701.2, AB007891.1, BI259534.1 and BM693775.1.; On or before Nov 15, 2004 this sequence version replaced XP_375375.1, NP_056066.1.; ~Transcript Variant: This variant (1) encodes the longer isoform (1).; ~Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.; ; ##Evidence-Data-START## ; Transcript exon combination :: SRR1803615.195099.1, SRR1803614.97989.1 [ECO:0000332] ; RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ; ##Evidence-Data-END##; ; ##RefSeq-Attributes-START## ; MANE Ensembl match :: ENST00000299575.5/ ENSP00000299575.3 ; RefSeq Select criteria :: based on conservation, expression, longest protein ; ##RefSeq-Attributes-END##", | |
| "GBSeq_source-db": "REFSEQ: accession NM_015251.3", | |
| "GBSeq_feature-table": [ | |
| { | |
| "GBFeature_key": "source", | |
| "GBFeature_location": "1..823", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "823", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "organism", | |
| "GBQualifier_value": "Homo sapiens" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "taxon:9606" | |
| }, | |
| { | |
| "GBQualifier_name": "chromosome", | |
| "GBQualifier_value": "16" | |
| }, | |
| { | |
| "GBQualifier_name": "map", | |
| "GBQualifier_value": "16q23.2" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Protein", | |
| "GBFeature_location": "1..823", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "823", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "product", | |
| "GBQualifier_value": "ATM interactor isoform 1" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein; ATM INteracting protein; zinc finger protein 822; ATM/ATR-substrate CHK2-interacting zinc finger protein; ATM/ATR-substrate CHEK2-interacting zinc finger protein" | |
| }, | |
| { | |
| "GBQualifier_name": "calculated_mol_wt", | |
| "GBQualifier_value": "88217" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Region", | |
| "GBFeature_location": "133..160", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "133", | |
| "GBInterval_to": "160", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "region_name", | |
| "GBQualifier_value": "C2H2 Zn finger" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "C2H2 Zn finger [structural motif]" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CDD:275368" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Site", | |
| "GBFeature_location": "order(133,138,155,160)", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_point": "133", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "138", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "155", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "160", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_operator": "order", | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "site_type", | |
| "GBQualifier_value": "other" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "Zn binding site [ion binding]" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CDD:275368" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Site", | |
| "GBFeature_location": "order(140,146,148,150..151,154..155,159,172,174,178..179,182..183,189,191,201,203..204,207..208)", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_point": "140", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "146", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "148", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "150", | |
| "GBInterval_to": "151", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "154", | |
| "GBInterval_to": "155", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "159", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "172", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "174", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "178", | |
| "GBInterval_to": "179", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "182", | |
| "GBInterval_to": "183", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "189", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "191", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_point": "201", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "203", | |
| "GBInterval_to": "204", | |
| "GBInterval_accession": "NP_056066.2" | |
| }, | |
| { | |
| "GBInterval_from": "207", | |
| "GBInterval_to": "208", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_operator": "order", | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "site_type", | |
| "GBQualifier_value": "other" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "putative nucleic acid binding site [nucleotide binding]" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CDD:275368" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Region", | |
| "GBFeature_location": "167..184", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "167", | |
| "GBInterval_to": "184", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "region_name", | |
| "GBQualifier_value": "C2H2 Zn finger" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "C2H2 Zn finger [structural motif]" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CDD:275368" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Region", | |
| "GBFeature_location": "185..209", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "185", | |
| "GBInterval_to": "209", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "region_name", | |
| "GBQualifier_value": "C2H2 Zn finger" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "C2H2 Zn finger [structural motif]" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CDD:275368" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Region", | |
| "GBFeature_location": "223..442", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "223", | |
| "GBInterval_to": "442", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "region_name", | |
| "GBQualifier_value": "Required for formation of RAD51 foci" | |
| }, | |
| { | |
| "GBQualifier_name": "experiment", | |
| "GBQualifier_value": "experimental evidence, no additional details recorded" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "propagated from UniProtKB/Swiss-Prot (O43313.2)" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "CDS", | |
| "GBFeature_location": "1..823", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "823", | |
| "GBInterval_accession": "NP_056066.2" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "gene", | |
| "GBQualifier_value": "ATMIN" | |
| }, | |
| { | |
| "GBQualifier_name": "gene_synonym", | |
| "GBQualifier_value": "ASCIZ; ZNF822" | |
| }, | |
| { | |
| "GBQualifier_name": "coded_by", | |
| "GBQualifier_value": "NM_015251.3:30..2501" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "isoform 1 is encoded by transcript variant 1" | |
| }, | |
| { | |
| "GBQualifier_name": "transl_table", | |
| "GBQualifier_value": "1" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CCDS:CCDS32494.1" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "GeneID:23300" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "HGNC:HGNC:29034" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "MIM:614693" | |
| } | |
| ] | |
| } | |
| ], | |
| "GBSeq_sequence": "maaseaaaaagsaalaagaravpaattgaaaaasgpwvppgprlrgsrprpagatqqpavpappageliqpsvselsravrtnilctvrgcgkilpnspalnmhlvkshrlqdgivnptirkdlktgpkfyccpiegcprgperpfsqfslvkqhfmkmhaekkhkcskcsnsygtewdlkrhaedcgktfrctcgcpyasrtalqshiyrtgheipaehrdppskkrkmencaqnqklsnktieslnnqpiprpdtqeleaseiklepsfedscgsntdkqtlttpprypqklllpkpkvalvklpvmqfsvmpvfvptadssaqpvvlgvdqgsatgavhlmplsvgtlilgldseacslkeslplfkianpiagepistgvqvnfgkspsnplqelgntcqknsissinvqtdlsyasqnfipsaqwatadssvsscsqtdlsfdsqvslpisvhtqtflpsskvtssiaaqtdafmdtcfqsggvsretqtsgiesptddhvqmdqagmcgdifesvhssynvatgniisnslvaetvthsllpqnepktlnqdieksapiinfsaqnsmlpsqnmtdnqtqtidllsdlenilssnlpaqtldhrsllsdtnpgpdtqlpsgpaqnpgidfdieeffsasniqtqteeselstmttepvlesldietqtdflladtsaqsygcrgnsnflglemfdtqtqtdlnffldssphlplgsilkhssfsvstdssdtetqtegvstaknipaleskvqlnstetqtmssgfetlgslfftsnetqtamddflladlawntmesqfssvetqtsaephtvsnf" | |
| }, | |
| { | |
| "GBSeq_locus": "NP_001287657", | |
| "GBSeq_length": "667", | |
| "GBSeq_moltype": "AA", | |
| "GBSeq_topology": "linear", | |
| "GBSeq_division": "PRI", | |
| "GBSeq_update-date": "28-SEP-2019", | |
| "GBSeq_create-date": "11-JUL-2014", | |
| "GBSeq_definition": "ATM interactor isoform 2 [Homo sapiens]", | |
| "GBSeq_primary-accession": "NP_001287657", | |
| "GBSeq_accession-version": "NP_001287657.1", | |
| "GBSeq_other-seqids": [ | |
| "ref|NP_001287657.1|", | |
| "gi|663429532" | |
| ], | |
| "GBSeq_secondary-accessions": [ | |
| "XP_005255923" | |
| ], | |
| "GBSeq_keywords": [ | |
| "RefSeq" | |
| ], | |
| "GBSeq_source": "Homo sapiens (human)", | |
| "GBSeq_organism": "Homo sapiens", | |
| "GBSeq_taxonomy": "Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo", | |
| "GBSeq_references": [ | |
| { | |
| "GBReference_reference": "1", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Richards T", | |
| "Modarage K", | |
| "Dean C", | |
| "McCarthy-Boxer A", | |
| "Hilton H", | |
| "Esapa C", | |
| "Norman J", | |
| "Wilson P", | |
| "Goggolidou P" | |
| ], | |
| "GBReference_title": "Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling", | |
| "GBReference_journal": "Biochim Biophys Acta Mol Basis Dis 1865 (2), 378-390 (2019)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.bbadis.2018.11.003" | |
| } | |
| ], | |
| "GBReference_pubmed": "30414501", | |
| "GBReference_remark": "GeneRIF: This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1." | |
| }, | |
| { | |
| "GBReference_reference": "2", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Liu R", | |
| "King A", | |
| "Hoch NC", | |
| "Chang C", | |
| "Kelly GL", | |
| "Deans AJ", | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "ASCIZ/ATMIN is dispensable for ATM signaling in response to replication stress", | |
| "GBReference_journal": "DNA Repair (Amst.) 57, 29-34 (2017)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.dnarep.2017.06.022" | |
| } | |
| ], | |
| "GBReference_pubmed": "28648892", | |
| "GBReference_remark": "GeneRIF: ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN." | |
| }, | |
| { | |
| "GBReference_reference": "3", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Li YJ", | |
| "Lai WT", | |
| "Chang CC", | |
| "Kuo MY", | |
| "Deng YT", | |
| "Yang CN", | |
| "Cheng SJ", | |
| "Wu TS", | |
| "Chen ST", | |
| "Lin BR" | |
| ], | |
| "GBReference_title": "Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression", | |
| "GBReference_journal": "Oral Oncol. 66, 100-107 (2017)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.oraloncology.2016.11.006" | |
| } | |
| ], | |
| "GBReference_pubmed": "28012797", | |
| "GBReference_remark": "GeneRIF: The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine" | |
| }, | |
| { | |
| "GBReference_reference": "4", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Goggolidou P", | |
| "Wilson PD" | |
| ], | |
| "GBReference_title": "Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease", | |
| "GBReference_journal": "Biochem. Soc. Trans. 44 (6), 1745-1751 (2016)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1042/BST20160124" | |
| } | |
| ], | |
| "GBReference_pubmed": "27913685", | |
| "GBReference_remark": "GeneRIF: Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.\nReview article" | |
| }, | |
| { | |
| "GBReference_reference": "5", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Leszczynska KB", | |
| "Gottgens EL", | |
| "Biasoli D", | |
| "Olcina MM", | |
| "Ient J", | |
| "Anbalagan S", | |
| "Bernhardt S", | |
| "Giaccia AJ", | |
| "Hammond EM" | |
| ], | |
| "GBReference_title": "Mechanisms and consequences of ATMIN repression in hypoxic conditions: roles for p53 and HIF-1", | |
| "GBReference_journal": "Sci Rep 6, 21698 (2016)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/srep21698" | |
| } | |
| ], | |
| "GBReference_pubmed": "26875667", | |
| "GBReference_remark": "GeneRIF: Repression of ATMIN in hypoxia is mediated by both p53 and HIF-1alpha in an oxygen dependent manner.; Publication Status: Online-Only" | |
| }, | |
| { | |
| "GBReference_reference": "6", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Kanu N", | |
| "Behrens A" | |
| ], | |
| "GBReference_title": "ATMINistrating ATM signalling: regulation of ATM by ATMIN", | |
| "GBReference_journal": "Cell Cycle 7 (22), 3483-3486 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.4161/cc.7.22.7044" | |
| } | |
| ], | |
| "GBReference_pubmed": "19001856", | |
| "GBReference_remark": "Review article" | |
| }, | |
| { | |
| "GBReference_reference": "7", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "Mdt1/ASCIZ: a new DNA damage response protein family", | |
| "GBReference_journal": "Cell Cycle 7 (17), 2654-2660 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.4161/cc.7.17.6593" | |
| } | |
| ], | |
| "GBReference_pubmed": "18728389", | |
| "GBReference_remark": "GeneRIF: ASCIZ (ATMIN) is structurally related to the yeast ATM/ATR substrate Mdt1 (Pin4/Ybl051c); both proteins contain SQ/TQ cluster domains and interact with N-terminal FHA domains of CHK2/Rad53 kinases.\nReview article" | |
| }, | |
| { | |
| "GBReference_reference": "8", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Oka H", | |
| "Sakai W", | |
| "Sonoda E", | |
| "Nakamura J", | |
| "Asagoshi K", | |
| "Wilson SH", | |
| "Kobayashi M", | |
| "Yamamoto K", | |
| "Heierhorst J", | |
| "Takeda S", | |
| "Taniguchi Y" | |
| ], | |
| "GBReference_title": "DNA damage response protein ASCIZ links base excision repair with immunoglobulin gene conversion", | |
| "GBReference_journal": "Biochem. Biophys. Res. Commun. 371 (2), 225-229 (2008)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1016/j.bbrc.2008.04.052" | |
| } | |
| ], | |
| "GBReference_pubmed": "18433721", | |
| "GBReference_remark": "GeneRIF: These data suggest that ASCIZ may affect the choice between competing base repair pathways in a manner that reduces the amount of substrates available for Ig gene conversion.; Erratum:[Biochem Biophys Res Commun. 2008 Dec 5;377(1):326]" | |
| }, | |
| { | |
| "GBReference_reference": "9", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "Kanu N", | |
| "Behrens A" | |
| ], | |
| "GBReference_title": "ATMIN defines an NBS1-independent pathway of ATM signalling", | |
| "GBReference_journal": "EMBO J. 26 (12), 2933-2941 (2007)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/sj.emboj.7601733" | |
| } | |
| ], | |
| "GBReference_pubmed": "17525732", | |
| "GBReference_remark": "GeneRIF: ATMIN defines a novel NBS1-independent pathway of ATM signalling." | |
| }, | |
| { | |
| "GBReference_reference": "10", | |
| "GBReference_position": "1..667", | |
| "GBReference_authors": [ | |
| "McNees CJ", | |
| "Conlan LA", | |
| "Tenis N", | |
| "Heierhorst J" | |
| ], | |
| "GBReference_title": "ASCIZ regulates lesion-specific Rad51 focus formation and apoptosis after methylating DNA damage", | |
| "GBReference_journal": "EMBO J. 24 (13), 2447-2457 (2005)", | |
| "GBReference_xref": [ | |
| { | |
| "GBXref_dbname": "doi", | |
| "GBXref_id": "10.1038/sj.emboj.7600704" | |
| } | |
| ], | |
| "GBReference_pubmed": "15933716", | |
| "GBReference_remark": "GeneRIF: ASCIZ acts as a lesion-specific focus scaffold in a Rad51-dependent pathway that resolves cytotoxic repair intermediates, most likely single-stranded DNA gaps, resulting from MLH1-dependent processing of base lesions.\nGeneRIF: ATM/ATR-Substrate Chk2-Interacting Zn2+-finger protein (ASCIZ) required for repair of abasic sites after methylating and oxidative DNA damage but not double-strand breaks. Forms DNA damage-induced foci with RAD51 and ssDNA. ASCIZ foci depend on MLH1." | |
| } | |
| ], | |
| "GBSeq_comment": "VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC092718.3.; On Jul 11, 2014 this sequence version replaced XP_005255923.1.; ~Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.; ~Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.; ~Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.; ; ##Evidence-Data-START## ; Transcript exon combination :: CR749457.1, AA406169.1 [ECO:0000332] ; RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142680 [ECO:0000348] ; ##Evidence-Data-END##", | |
| "GBSeq_source-db": "REFSEQ: accession NM_001300728.2", | |
| "GBSeq_feature-table": [ | |
| { | |
| "GBFeature_key": "source", | |
| "GBFeature_location": "1..667", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "667", | |
| "GBInterval_accession": "NP_001287657.1" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "organism", | |
| "GBQualifier_value": "Homo sapiens" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "taxon:9606" | |
| }, | |
| { | |
| "GBQualifier_name": "chromosome", | |
| "GBQualifier_value": "16" | |
| }, | |
| { | |
| "GBQualifier_name": "map", | |
| "GBQualifier_value": "16q23.2" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "Protein", | |
| "GBFeature_location": "1..667", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "667", | |
| "GBInterval_accession": "NP_001287657.1" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "product", | |
| "GBQualifier_value": "ATM interactor isoform 2" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein; ATM INteracting protein; zinc finger protein 822; ATM/ATR-substrate CHK2-interacting zinc finger protein; ATM/ATR-substrate CHEK2-interacting zinc finger protein" | |
| }, | |
| { | |
| "GBQualifier_name": "calculated_mol_wt", | |
| "GBQualifier_value": "72203" | |
| } | |
| ] | |
| }, | |
| { | |
| "GBFeature_key": "CDS", | |
| "GBFeature_location": "1..667", | |
| "GBFeature_intervals": [ | |
| { | |
| "GBInterval_from": "1", | |
| "GBInterval_to": "667", | |
| "GBInterval_accession": "NP_001287657.1" | |
| } | |
| ], | |
| "GBFeature_quals": [ | |
| { | |
| "GBQualifier_name": "gene", | |
| "GBQualifier_value": "ATMIN" | |
| }, | |
| { | |
| "GBQualifier_name": "gene_synonym", | |
| "GBQualifier_value": "ASCIZ; ZNF822" | |
| }, | |
| { | |
| "GBQualifier_name": "coded_by", | |
| "GBQualifier_value": "NM_001300728.2:411..2414" | |
| }, | |
| { | |
| "GBQualifier_name": "note", | |
| "GBQualifier_value": "isoform 2 is encoded by transcript variant 2" | |
| }, | |
| { | |
| "GBQualifier_name": "transl_table", | |
| "GBQualifier_value": "1" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "CCDS:CCDS73917.1" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "GeneID:23300" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "HGNC:HGNC:29034" | |
| }, | |
| { | |
| "GBQualifier_name": "db_xref", | |
| "GBQualifier_value": "MIM:614693" | |
| } | |
| ] | |
| } | |
| ], | |
| "GBSeq_sequence": "mkmhaekkhkcskcsnsygtewdlkrhaedcgktfrctcgcpyasrtalqshiyrtgheipaehrdppskkrkmencaqnqklsnktieslnnqpiprpdtqeleaseiklepsfedscgsntdkqtlttpprypqklllpkpkvalvklpvmqfsvmpvfvptadssaqpvvlgvdqgsatgavhlmplsvgtlilgldseacslkeslplfkianpiagepistgvqvnfgkspsnplqelgntcqknsissinvqtdlsyasqnfipsaqwatadssvsscsqtdlsfdsqvslpisvhtqtflpsskvtssiaaqtdafmdtcfqsggvsretqtsgiesptddhvqmdqagmcgdifesvhssynvatgniisnslvaetvthsllpqnepktlnqdieksapiinfsaqnsmlpsqnmtdnqtqtidllsdlenilssnlpaqtldhrsllsdtnpgpdtqlpsgpaqnpgidfdieeffsasniqtqteeselstmttepvlesldietqtdflladtsaqsygcrgnsnflglemfdtqtqtdlnffldssphlplgsilkhssfsvstdssdtetqtegvstaknipaleskvqlnstetqtmssgfetlgslfftsnetqtamddflladlawntmesqfssvetqtsaephtvsnf" | |
| } | |
| ] |
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