SERF2_HUMAN
ID SERF2_HUMAN Reviewed; 59 AA.
AC P84101; A6NL45; B5MCG1; B9A026; O75918; O88891; Q9BZH7;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Small EDRK-rich factor 2;
DE AltName: Full=Gastric cancer-related protein VRG107;
DE AltName: Full=Protein 4F5-related;
DE Short=4F5rel;
DE Short=h4F5rel;
GN Name=SERF2; Synonyms=FAM2C;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=9731538; DOI=10.1038/1753;
RA Scharf J.M., Endrizzi M.G., Wetter A., Huang S., Thompson T.G., Zerres K.,
RA Dietrich W.F., Wirth B., Kunkel L.M.;
RT "Identification of a candidate modifying gene for spinal muscular atrophy
RT by comparative genomics.";
RL Nat. Genet. 20:83-86(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Zhao Y., Han Y., You H., Shi Y., Wang X., Chen B., Qiao T., Wu K., Ding J.,
RA Fan D.;
RL Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION.
RX PubMed=20723760; DOI=10.1016/j.cell.2010.07.020;
RA van Ham T.J., Holmberg M.A., van der Goot A.T., Teuling E.,
RA Garcia-Arencibia M., Kim H.E., Du D., Thijssen K.L., Wiersma M.,
RA Burggraaff R., van Bergeijk P., van Rheenen J., Jerre van Veluw G.,
RA Hofstra R.M., Rubinsztein D.C., Nollen E.A.;
RT "Identification of MOAG-4/SERF as a regulator of age-related
RT proteotoxicity.";
RL Cell 142:601-612(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Positive regulator of amyloid protein aggregation and
CC proteotoxicity (PubMed:20723760). Induces conformational changes in
CC amyloid proteins, such as HTT, driving them into compact formations
CC preceding the formation of aggregates (PubMed:20723760).
CC {ECO:0000269|PubMed:20723760}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=P84101-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P84101-2; Sequence=VSP_046732;
CC Name=3;
CC IsoId=P84101-3; Sequence=VSP_046731;
CC Name=4;
CC IsoId=P84101-4; Sequence=VSP_046730;
CC -!- SIMILARITY: Belongs to the SERF family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK07636.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AF073298; AAC63516.1; -; mRNA.
DR EMBL; AF320073; AAK07636.1; ALT_SEQ; mRNA.
DR EMBL; AC018512; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009869; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC015491; AAH15491.2; -; mRNA.
DR CCDS; CCDS32218.1; -. [P84101-1]
DR CCDS; CCDS55963.1; -. [P84101-2]
DR CCDS; CCDS55964.1; -. [P84101-3]
DR CCDS; CCDS55965.1; -. [P84101-4]
DR RefSeq; NP_001018118.1; NM_001018108.3. [P84101-1]
DR RefSeq; NP_001186804.1; NM_001199875.1. [P84101-2]
DR RefSeq; NP_001186805.1; NM_001199876.1. [P84101-3]
DR RefSeq; NP_001186806.1; NM_001199877.1. [P84101-1]
DR RefSeq; NP_001186807.1; NM_001199878.1. [P84101-4]
DR AlphaFoldDB; P84101; -.
DR BioGRID; 115471; 82.
DR IntAct; P84101; 15.
DR STRING; 9606.ENSP00000387187; -.
DR iPTMnet; P84101; -.
DR MetOSite; P84101; -.
DR PhosphoSitePlus; P84101; -.
DR BioMuta; SERF2; -.
DR DMDM; 51338670; -.
DR EPD; P84101; -.
DR jPOST; P84101; -.
DR MassIVE; P84101; -.
DR MaxQB; P84101; -.
DR PaxDb; P84101; -.
DR PeptideAtlas; P84101; -.
DR PRIDE; P84101; -.
DR ProteomicsDB; 1448; -.
DR ProteomicsDB; 57752; -. [P84101-1]
DR ProteomicsDB; 6045; -.
DR ProteomicsDB; 7486; -.
DR TopDownProteomics; P84101-1; -. [P84101-1]
DR Antibodypedia; 34934; 77 antibodies from 17 providers.
DR DNASU; 10169; -.
DR Ensembl; ENST00000249786.9; ENSP00000249786.4; ENSG00000140264.21. [P84101-1]
DR Ensembl; ENST00000339624.9; ENSP00000339647.5; ENSG00000140264.21. [P84101-3]
DR Ensembl; ENST00000381359.5; ENSP00000370764.1; ENSG00000140264.21. [P84101-1]
DR Ensembl; ENST00000402131.5; ENSP00000386044.1; ENSG00000140264.21. [P84101-4]
DR Ensembl; ENST00000403425.5; ENSP00000384300.1; ENSG00000140264.21. [P84101-4]
DR Ensembl; ENST00000409614.1; ENSP00000386783.1; ENSG00000140264.21. [P84101-4]
DR Ensembl; ENST00000409960.6; ENSP00000387187.2; ENSG00000140264.21. [P84101-2]
DR Ensembl; ENST00000445816.5; ENSP00000400178.1; ENSG00000140264.21. [P84101-1]
DR GeneID; 10169; -.
DR KEGG; hsa:10169; -.
DR MANE-Select; ENST00000249786.9; ENSP00000249786.4; NM_001018108.4; NP_001018118.1.
DR UCSC; uc001zsz.5; human. [P84101-1]
DR CTD; 10169; -.
DR DisGeNET; 10169; -.
DR GeneCards; SERF2; -.
DR HGNC; HGNC:10757; SERF2.
DR HPA; ENSG00000140264; Low tissue specificity.
DR MIM; 605054; gene.
DR neXtProt; NX_P84101; -.
DR PharmGKB; PA35677; -.
DR VEuPathDB; HostDB:ENSG00000140264; -.
DR eggNOG; KOG4488; Eukaryota.
DR GeneTree; ENSGT00940000164082; -.
DR HOGENOM; CLU_165034_1_1_1; -.
DR InParanoid; P84101; -.
DR OMA; QRDADIM; -.
DR OrthoDB; 1641955at2759; -.
DR PhylomeDB; P84101; -.
DR PathwayCommons; P84101; -.
DR SignaLink; P84101; -.
DR BioGRID-ORCS; 10169; 79 hits in 1081 CRISPR screens.
DR ChiTaRS; SERF2; human.
DR GeneWiki; SERF2; -.
DR GenomeRNAi; 10169; -.
DR Pharos; P84101; Tdark.
DR PRO; PR:P84101; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P84101; protein.
DR Bgee; ENSG00000140264; Expressed in mucosa of transverse colon and 96 other tissues.
DR ExpressionAtlas; P84101; baseline and differential.
DR Genevisible; P84101; HS.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0031648; P:protein destabilization; IMP:UniProtKB.
DR InterPro; IPR040211; SERF1/2.
DR InterPro; IPR007513; Uncharacterised_SERF_N.
DR PANTHER; PTHR13596; PTHR13596; 1.
DR Pfam; PF04419; 4F5; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..59
FT /note="Small EDRK-rich factor 2"
FT /id="PRO_0000050712"
FT REGION 1..59
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 9..59
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..14
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_046730"
FT VAR_SEQ 39..59
FT /note="RDSEIMQQKQKKANEKKEEPK -> SAPSSLPPGTRRSCSRSRKRQTRRRRN
FT PSSFVASCPTLLPFACVPGASPTTLAFPPVVLTGPSTDGIPFALSLQRVPFVLPSPQVA
FT SLPLGHSRG (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046731"
FT VAR_SEQ 40..59
FT /note="DSEIMQQKQKKANEKKEEPK -> VGVQQPNAELSPIHFHLILCALHPPASC
FT PFCPLVPPSAPSSLPPGTRRSCSRSRKRQTRRRRNPSSFVASCPTLLPFACVPGASPTT
FT LAFPPVVLTGPSTDGIPFALSLQRVPFVLPSPQVASLPLGHSRG (in isoform
FT 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046732"
FT VARIANT 40
FT /note="D -> Y (in dbSNP:rs11269)"
FT /id="VAR_051937"
SQ SEQUENCE 59 AA; 6900 MW; 24FB33BF94FFFAE4 CRC64;
MTRGNQRELA RQKNMKKQSD SVKGKRRDDG LSAAARKQRD SEIMQQKQKK ANEKKEEPK
