PS1C1_HUMAN
ID PS1C1_HUMAN Reviewed; 152 AA.
AC Q9UIG5; B0V083; Q5ST21; Q86WJ8; Q86WJ9; Q96QC3;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Psoriasis susceptibility 1 candidate gene 1 protein;
DE AltName: Full=Protein SEEK1;
GN Name=PSORS1C1; Synonyms=C6orf16, SEEK1;
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), AND VARIANT LYS-34.
RX PubMed=10545595; DOI=10.1093/hmg/8.12.2165;
RA Oka A., Tamiya G., Tomizawa M., Ota M., Katsuyama Y., Makino S., Shiina T.,
RA Yoshitome M., Lizuka M., Sasao Y., Iwashita K., Kawakubo Y., Sugai J.,
RA Ozawa A., Ohkido M., Kimura M., Bahram S., Inoko H.;
RT "Association analysis using refined microsatellite markers localizes a
RT susceptibility locus for psoriasis vulgaris within a 111kb segment
RT telomeric to the HLA-C gene.";
RL Hum. Mol. Genet. 8:2165-2170(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
RP VARIANTS THR-24; GLN-34; LYS-34; HIS-37 AND LEU-133.
RC TISSUE=Colon, and Skin;
RX PubMed=12930300; DOI=10.1034/j.1600-0625.2003.00048.x;
RA Holm S.J., Carlen L.M., Mallbris L., Staehle-Baeckdahl M., O'Brien K.P.;
RT "Polymorphisms in the SEEK1 and SPR1 genes on 6p21.3 associate with
RT psoriasis in the Swedish population.";
RL Exp. Dermatol. 12:435-444(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Shiina T., Ota M., Katsuyama Y., Hashimoto N., Inoko H.;
RT "Genome diversity in HLA: a new strategy for detection of genetic
RT polymorphisms in expressed genes within the HLA class III and class I
RT regions.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q9UIG5-2; Q92567-2: FAM168A; NbExp=3; IntAct=EBI-14831475, EBI-11978259;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UIG5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UIG5-2; Sequence=VSP_009008;
CC -!- TISSUE SPECIFICITY: Expressed in skin. Also found in heart, placenta,
CC liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:12930300}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB63314.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=BAC54950.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AB031479; BAA88130.1; -; mRNA.
DR EMBL; AF484418; AAO49375.1; -; mRNA.
DR EMBL; AF484419; AAO49376.1; -; mRNA.
DR EMBL; BA000025; BAB63314.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AB088114; BAC54950.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL662844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX927139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR753819; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759815; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR938714; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03357.1; -; Genomic_DNA.
DR CCDS; CCDS34390.1; -. [Q9UIG5-1]
DR RefSeq; NP_054787.2; NM_014068.2. [Q9UIG5-1]
DR AlphaFoldDB; Q9UIG5; -.
DR BioGRID; 128075; 2.
DR IntAct; Q9UIG5; 1.
DR STRING; 9606.ENSP00000259881; -.
DR iPTMnet; Q9UIG5; -.
DR PhosphoSitePlus; Q9UIG5; -.
DR BioMuta; PSORS1C1; -.
DR PaxDb; Q9UIG5; -.
DR PeptideAtlas; Q9UIG5; -.
DR PRIDE; Q9UIG5; -.
DR Antibodypedia; 53230; 94 antibodies from 11 providers.
DR DNASU; 170679; -.
DR Ensembl; ENST00000259881.10; ENSP00000259881.9; ENSG00000204540.11. [Q9UIG5-1]
DR Ensembl; ENST00000420214.6; ENSP00000396568.2; ENSG00000233439.8. [Q9UIG5-1]
DR Ensembl; ENST00000433334.6; ENSP00000391443.2; ENSG00000233734.8.
DR Ensembl; ENST00000441092.6; ENSP00000398278.2; ENSG00000231094.8. [Q9UIG5-1]
DR Ensembl; ENST00000448455.6; ENSP00000389875.2; ENSG00000235487.8. [Q9UIG5-1]
DR GeneID; 170679; -.
DR KEGG; hsa:170679; -.
DR MANE-Select; ENST00000259881.10; ENSP00000259881.9; NM_014068.3; NP_054787.2.
DR UCSC; uc003nsl.2; human. [Q9UIG5-1]
DR CTD; 170679; -.
DR DisGeNET; 170679; -.
DR GeneCards; PSORS1C1; -.
DR HGNC; HGNC:17202; PSORS1C1.
DR HPA; ENSG00000204540; Tissue enriched (testis).
DR MalaCards; PSORS1C1; -.
DR MIM; 613525; gene.
DR neXtProt; NX_Q9UIG5; -.
DR OpenTargets; ENSG00000204540; -.
DR PharmGKB; PA33919; -.
DR VEuPathDB; HostDB:ENSG00000204540; -.
DR eggNOG; ENOG502TE6A; Eukaryota.
DR GeneTree; ENSGT00530000064866; -.
DR HOGENOM; CLU_1721746_0_0_1; -.
DR InParanoid; Q9UIG5; -.
DR OMA; QRALCTQ; -.
DR PhylomeDB; Q9UIG5; -.
DR TreeFam; TF341897; -.
DR PathwayCommons; Q9UIG5; -.
DR SignaLink; Q9UIG5; -.
DR BioGRID-ORCS; 170679; 6 hits in 1058 CRISPR screens.
DR ChiTaRS; PSORS1C1; human.
DR GenomeRNAi; 170679; -.
DR Pharos; Q9UIG5; Tbio.
DR PRO; PR:Q9UIG5; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9UIG5; protein.
DR Bgee; ENSG00000204540; Expressed in left testis and 84 other tissues.
DR ExpressionAtlas; Q9UIG5; baseline and differential.
DR Genevisible; Q9UIG5; HS.
DR InterPro; IPR028206; SEEK1.
DR Pfam; PF15357; SEEK1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..152
FT /note="Psoriasis susceptibility 1 candidate gene 1 protein"
FT /id="PRO_0000097057"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..36
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..56
FT /note="MTCTDQKSHSQRALGTQTPALQGPQLLNTDPSSEETRPPHVNPDRLCHMEPA
FT NHFW -> MASRR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12930300"
FT /id="VSP_009008"
FT VARIANT 24
FT /note="P -> T (in dbSNP:rs1265097)"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017391"
FT VARIANT 34
FT /note="E -> K (in dbSNP:rs1265096)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:12930300"
FT /id="VAR_047088"
FT VARIANT 34
FT /note="E -> Q"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017392"
FT VARIANT 37
FT /note="R -> H (in dbSNP:rs9263726)"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017393"
FT VARIANT 43
FT /note="P -> S (in dbSNP:rs9501057)"
FT /id="VAR_047089"
FT VARIANT 66
FT /note="S -> C (in dbSNP:rs2233943)"
FT /id="VAR_047090"
FT VARIANT 133
FT /note="P -> L (in dbSNP:rs1063646)"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017394"
SQ SEQUENCE 152 AA; 16580 MW; FEC09B17755B4A33 CRC64;
MTCTDQKSHS QRALGTQTPA LQGPQLLNTD PSSEETRPPH VNPDRLCHME PANHFWHAGD
LQAMISKEFH LAATQDDCRK GRTQEDILVP SSHPELFASV LPMAPEEAAR LQQPQPLPPP
SGIHLSASRT LAPTLLYSSP PSHSPFGLSS LI
