2024-03-28 19:28:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007051 2610 bp mRNA linear PRI 05-MAY-2013 DEFINITION Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. ACCESSION NM_007051 VERSION NM_007051.2 GI:19528653 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2610) AUTHORS Lee,J.J., Park,J.K., Jeong,J., Jeon,H., Yoon,J.B., Kim,E.E. and Lee,K.J. TITLE Complex of Fas-associated factor 1 (FAF1) with valosin-containing protein (VCP)-Npl4-Ufd1 and polyubiquitinated proteins promotes endoplasmic reticulum-associated degradation (ERAD) JOURNAL J. Biol. Chem. 288 (10), 6998-7011 (2013) PUBMED 23293021 REMARK GeneRIF: Data indicate that Npl4-Ufd1 heterodimer is required for VCP-FAF1 interaction. REFERENCE 2 (bases 1 to 2610) AUTHORS Zhang,L., Zhou,F., Li,Y., Drabsch,Y., Zhang,J., van Dam,H. and ten Dijke,P. TITLE Fas-associated factor 1 is a scaffold protein that promotes beta-transducin repeat-containing protein (beta-TrCP)-mediated beta-catenin ubiquitination and degradation JOURNAL J. Biol. Chem. 287 (36), 30701-30710 (2012) PUBMED 22730322 REMARK GeneRIF: Fas-associated factor 1 is a scaffold protein that promotes beta-transducin repeat-containing protein (beta-TrCP)-mediated beta-catenin ubiquitination and degradation. REFERENCE 3 (bases 1 to 2610) AUTHORS Edwards,A.C., Aliev,F., Bierut,L.J., Bucholz,K.K., Edenberg,H., Hesselbrock,V., Kramer,J., Kuperman,S., Nurnberger,J.I. Jr., Schuckit,M.A., Porjesz,B. and Dick,D.M. TITLE Genome-wide association study of comorbid depressive syndrome and alcohol dependence JOURNAL Psychiatr. Genet. 22 (1), 31-41 (2012) PUBMED 22064162 REFERENCE 4 (bases 1 to 2610) AUTHORS Lee,J.J., Kim,Y.M., Jeong,J., Bae,D.S. and Lee,K.J. TITLE Ubiquitin-associated (UBA) domain in human Fas associated factor 1 inhibits tumor formation by promoting Hsp70 degradation JOURNAL PLoS ONE 7 (8), E40361 (2012) PUBMED 22876279 REMARK GeneRIF: hFAF1 inhibits tumor formation by increasing the degradation of Hsp70 mediated via its UBA domain. REFERENCE 5 (bases 1 to 2610) AUTHORS Kang,W. and Yang,J.K. TITLE Crystallization and preliminary X-ray crystallographic analysis of the hexameric human p97/VCP ND1 fragment in complex with the UBX domain of human FAF1 JOURNAL Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 67 (PT 10), 1199-1202 (2011) PUBMED 22102026 REMARK GeneRIF: Wild-type p97/VCP ND1 in complex with FAF1 UBX crystallized into very thin sheet-shaped crystals which turned out to be of poor diffraction quality REFERENCE 6 (bases 1 to 2610) AUTHORS Buchberger,A., Howard,M.J., Proctor,M. and Bycroft,M. TITLE The UBX domain: a widespread ubiquitin-like module JOURNAL J. Mol. Biol. 307 (1), 17-24 (2001) PUBMED 11243799 REFERENCE 7 (bases 1 to 2610) AUTHORS Ryu,S.W., Chae,S.K., Lee,K.J. and Kim,E. TITLE Identification and characterization of human Fas associated factor 1, hFAF1 JOURNAL Biochem. Biophys. Res. Commun. 262 (2), 388-394 (1999) PUBMED 10462485 REFERENCE 8 (bases 1 to 2610) AUTHORS Kusk,M., Ahmed,R., Thomsen,B., Bendixen,C., Issinger,O.G. and Boldyreff,B. TITLE Interactions of protein kinase CK2beta subunit within the holoenzyme and with other proteins JOURNAL Mol. Cell. Biochem. 191 (1-2), 51-58 (1999) PUBMED 10094392 REFERENCE 9 (bases 1 to 2610) AUTHORS Juo,P., Kuo,C.J., Yuan,J. and Blenis,J. TITLE Essential requirement for caspase-8/FLICE in the initiation of the Fas-induced apoptotic cascade JOURNAL Curr. Biol. 8 (18), 1001-1008 (1998) PUBMED 9740801 REFERENCE 10 (bases 1 to 2610) AUTHORS Chu,K., Niu,X. and Williams,L.T. TITLE A Fas-associated protein factor, FAF1, potentiates Fas-mediated apoptosis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (25), 11894-11898 (1995) PUBMED 8524870 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC004970.1. On Mar 18, 2002 this sequence version replaced gi:5901947. Summary: Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]. 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 :: BC004970.1, AJ271408.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..2610 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p33" gene 1..2610 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="Fas (TNFRSF6) associated factor 1" /db_xref="GeneID:11124" /db_xref="HGNC:3578" /db_xref="HPRD:05124" /db_xref="MIM:604460" exon 1..498 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" misc_feature 112..114 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="upstream in-frame stop codon" CDS 454..2406 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="UBX domain protein 3A; TNFRSF6-associated factor 1; UBX domain-containing protein 12; UBX domain-containing protein 3A" /codon_start=1 /product="FAS-associated factor 1" /protein_id="NP_008982.1" /db_xref="GI:5901948" /db_xref="CCDS:CCDS554.1" /db_xref="GeneID:11124" /db_xref="HGNC:3578" /db_xref="HPRD:05124" /db_xref="MIM:604460" /translation="
MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLNFSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASSALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSNRARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAKREAHEREMAEQFRLEQIRKEQEEEREAIRLSLEQALPPEPKEENAEPVSKLRIRTPSGEFLERRFLASNKLQIVFDFVASKGFPWDEYKLLSTFPRRDVTQLDPNKSLLEVKLFPQETLFLEAKE
" misc_feature 1126..1128 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 1318..1320 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00277" misc_feature 1324..1326 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00277" misc_feature 1411..1413 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q9UNN5.2); phosphorylation site" misc_feature 1507..1914 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="UAS family, FAS-associated factor 1 (FAF1) subfamily; FAF1 contains a UAS domain of unknown function N-terminal to a ubiquitin-associated UBX domain. FAF1 also contains ubiquitin-associated UBA and nuclear targeting domains, N-terminal to the UAS domain; Region: UAS_FAF1; cd02990" /db_xref="CDD:48539" misc_feature 2161..2400 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="Faf1 UBX domain; Region: Faf1_UBX; cd01771" /db_xref="CDD:176366" variation 497 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /replace="a" /replace="g" /db_xref="dbSNP:11538733" exon 499..567 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 568..614 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 615..820 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 821..912 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 913..1004 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1005..1110 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" misc_feature 1017..1472 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /note="Region: sequence missing in transcript variant 2" exon 1111..1197 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1198..1293 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1294..1420 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1421..1484 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1485..1566 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1567..1721 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1722..1858 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1859..1947 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 1948..2028 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 2029..2106 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" exon 2107..2322 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" STS 2318..2475 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /standard_name="SHGC-74798" /db_xref="UniSTS:34428" exon 2323..2583 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /inference="alignment:Splign:1.39.8" polyA_signal 2554..2559 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" polyA_site 2574 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" polyA_site 2583 /gene="FAF1" /gene_synonym="CGI-03; hFAF1; HFAF1s; UBXD12; UBXN3A" /experiment="experimental evidence, no additional details recorded" ORIGIN
caggggcggaggcggcggccagggaggaagcggaggaggcggaggcggccgcggcgttcgcccgcccgctcgctcgctcggtttccccgcccccgccgggcttaacgccgctgaaggtatccgggtgcgcgctgtcgcaacctgccctcatcctggcccgcgactgtaagaccggacccacatccagaccaatcttcctgtccgggctgctgcgacgcgggctccgcaggttgcaggcgggcggccggggcgcctgaaggttaccgagtgcatgagcgcctagcgcttcccgcgctgccccgcccgctggcccgccgacccgcccgccggctcgcccgccagcccctcggcgcccggcggcggcggcggcggtggcggcgacggtcgcaggaggtgccgtctgcctcccaggtgcgcgcttcgctcccggagccgcggaactcggcggccgccatggcgtccaacatggaccgggagatgatcctggcggattttcaggcatgtactggcattgaaaacattgacgaagctattacattgcttgaacaaaataattgggacttagtggcagctatcaatggtgtaataccacaggaaaatggcattctacaaagtgaatatggaggtgagaccataccaggacctgcatttaatccagcaagtcatccagcttcagctcctacttcctcttcttcttcagcgtttcgacctgtaatgccatccaggcagattgtagaaaggcaacctcggatgctggacttcagggttgaatacagagacagaaatgttgatgtggtacttgaagacacctgtactgttggagagattaaacagattctagaaaatgaacttcagatacctgtgtccaaaatgctgttaaaaggctggaagacgggagatgtggaagacagtacggtcctaaaatctctacacttgccaaaaaacaacagtctttatgtccttacaccagatttgccaccaccttcatcatctagtcatgctggtgccctgcaggagtcattaaatcaaaacttcatgctgatcatcacccaccgagaagtccagcgggagtacaacctgaacttctcaggaagcagtactattcaagaggtaaagagaaatgtgtatgaccttacaagtatccccgttcgccaccaattatgggagggctggccaacttctgctacagacgactcaatgtgtcttgctgaatcagggctctcttatccctgccatcgacttacagtgggaagaagatcttcacctgcacagacccgggaacagtcggaagaacaaatcaccgatgttcatatggttagtgatagcgatggagatgactttgaagatgctacagaatttggggtggatgatggagaagtatttggcatggcgtcatctgccttgagaaaatctccaatgatgccagaaaacgcagaaaatgaaggagatgccttattacaatttacagcagagttttcttcaagatatggtgattgccatcctgtattttttattggctcattagaagctgcttttcaagaggccttctatgtgaaagcccgagatagaaagcttcttgctatctacctccaccatgatgaaagtgtgttaaccaacgtgttctgctcacaaatgctttgtgctgaatccattgtttcttatctgagtcaaaattttataacctgggcttgggatctgacaaaggactccaacagagcaagatttctcactatgtgcaatagacactttggcagtgttgtggcacaaaccattcggactcaaaaaacggatcagtttccgcttttcctgattattatgggaaagcgatcatctaatgaagtgttgaatgtgatacaagggaacacaacagtagatgagttaatgatgagactcatggctgcaatggagatcttcacagcccaacaacaggaagatataaaggacgaggatgaacgtgaagccagagaaaatgtgaagagagagcaagatgaggcctatcgcctttcacttgaggctgacagagcaaagagggaagctcacgagagagagatggcagaacagtttcgtttggagcagattcgcaaagaacaagaagaggaacgtgaggccatccggctgtccttagagcaagccctgcctcctgagccaaaggaagaaaatgctgagcctgtgagcaaactgcggatccggacccccagtggcgagttcttggagcggcgtttcctggccagcaacaagctccagattgtctttgattttgtagcttccaaaggatttccatgggatgagtacaagttactgagcacctttcctaggagagacgtaactcaactggacccaaataaatcattattggaggtaaagttgttccctcaagaaacccttttccttgaagcaaaagagtaaacacggcccagcggtggaaccagccattccttgacaagccagcagcctgcgtcaggagaagggctcctcgccaacccacccacacgctcgtctcactcaattcaatgtcacacttctgcctcttgcaaaattgctggaaaaagtaataataaatatagctacttaagatttcccatcaaaaaaaaaaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:11124 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:11124 -> Molecular function: GO:0019887 [protein kinase regulator activity] evidence: NAS GeneID:11124 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IDA GeneID:11124 -> Molecular function: GO:0019904 [protein domain specific binding] evidence: IEA GeneID:11124 -> Molecular function: GO:0031072 [heat shock protein binding] evidence: IDA GeneID:11124 -> Molecular function: GO:0031625 [ubiquitin protein ligase binding] evidence: IDA GeneID:11124 -> Molecular function: GO:0043130 [ubiquitin binding] evidence: IDA GeneID:11124 -> Molecular function: GO:0051059 [NF-kappaB binding] evidence: IPI GeneID:11124 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:11124 -> Biological process: GO:0007253 [cytoplasmic sequestering of NF-kappaB] evidence: IMP GeneID:11124 -> Biological process: GO:0008219 [cell death] evidence: IMP GeneID:11124 -> Biological process: GO:0030155 [regulation of cell adhesion] evidence: IEA GeneID:11124 -> Biological process: GO:0031334 [positive regulation of protein complex assembly] evidence: IMP GeneID:11124 -> Biological process: GO:0042176 [regulation of protein catabolic process] evidence: IMP GeneID:11124 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: NAS GeneID:11124 -> Biological process: GO:0043161 [proteasomal ubiquitin-dependent protein catabolic process] evidence: NAS GeneID:11124 -> Biological process: GO:0045859 [regulation of protein kinase activity] evidence: NAS GeneID:11124 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:11124 -> Cellular component: GO:0005635 [nuclear envelope] evidence: IEA GeneID:11124 -> Cellular component: GO:0005829 [cytosol] evidence: IDA GeneID:11124 -> Cellular component: GO:0031265 [CD95 death-inducing signaling complex] evidence: NAS GeneID:11124 -> Cellular component: GO:0034098 [Cdc48p-Npl4p-Ufd1p AAA ATPase complex] evidence: IDA GeneID:11124 -> Cellular component: GO:0048471 [perinuclear region of cytoplasm] evidence: IDA
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