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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
//

Annotations:

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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