PS1C2_HUMAN
ID PS1C2_HUMAN Reviewed; 136 AA.
AC Q9UIG4; Q5STD0;
DT 21-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Psoriasis susceptibility 1 candidate gene 2 protein;
DE AltName: Full=Protein SPR1;
DE Flags: Precursor;
GN Name=PSORS1C2; Synonyms=C6orf17, SPR1;
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], AND VARIANT PRO-83.
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], TISSUE SPECIFICITY, AND VARIANTS ASP-25; PRO-83
RP AND LEU-84.
RC TISSUE=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], AND VARIANT PRO-83.
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], AND VARIANT PRO-83.
RX PubMed=16702430; DOI=10.1534/genetics.106.057034;
RA Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M.,
RA Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K.,
RA Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y., Meyer A.,
RA Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K., Gojobori T.,
RA Inoko H., Bahram S.;
RT "Rapid evolution of major histocompatibility complex class I genes in
RT primates generates new disease alleles in humans via hitchhiking
RT diversity.";
RL Genetics 173:1555-1570(2006).
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).
CC -!- INTERACTION:
CC Q9UIG4; O95994: AGR2; NbExp=3; IntAct=EBI-11974061, EBI-712648;
CC Q9UIG4; Q10567-3: AP1B1; NbExp=3; IntAct=EBI-11974061, EBI-11978055;
CC Q9UIG4; P63010-2: AP2B1; NbExp=3; IntAct=EBI-11974061, EBI-11529439;
CC Q9UIG4; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-11974061, EBI-11524452;
CC Q9UIG4; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-11974061, EBI-739624;
CC Q9UIG4; A1L162: ERICH2; NbExp=3; IntAct=EBI-11974061, EBI-2682520;
CC Q9UIG4; O95843: GUCA1C; NbExp=3; IntAct=EBI-11974061, EBI-23668738;
CC Q9UIG4; Q9NP66: HMG20A; NbExp=3; IntAct=EBI-11974061, EBI-740641;
CC Q9UIG4; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-11974061, EBI-748420;
CC Q9UIG4; Q9UBR4-2: LHX3; NbExp=7; IntAct=EBI-11974061, EBI-12039345;
CC Q9UIG4; Q9H944: MED20; NbExp=3; IntAct=EBI-11974061, EBI-394644;
CC Q9UIG4; Q99687-3: MEIS3; NbExp=3; IntAct=EBI-11974061, EBI-18582591;
CC Q9UIG4; P10916: MYL2; NbExp=3; IntAct=EBI-11974061, EBI-725770;
CC Q9UIG4; Q01449: MYL7; NbExp=3; IntAct=EBI-11974061, EBI-10222416;
CC Q9UIG4; Q9NZQ3-3: NCKIPSD; NbExp=3; IntAct=EBI-11974061, EBI-10963850;
CC Q9UIG4; P26367: PAX6; NbExp=3; IntAct=EBI-11974061, EBI-747278;
CC Q9UIG4; P40855: PEX19; NbExp=5; IntAct=EBI-11974061, EBI-594747;
CC Q9UIG4; Q04864-2: REL; NbExp=3; IntAct=EBI-11974061, EBI-10829018;
CC Q9UIG4; Q9Y224: RTRAF; NbExp=3; IntAct=EBI-11974061, EBI-1104547;
CC Q9UIG4; Q9UHV2: SERTAD1; NbExp=3; IntAct=EBI-11974061, EBI-748601;
CC Q9UIG4; O43765: SGTA; NbExp=5; IntAct=EBI-11974061, EBI-347996;
CC Q9UIG4; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-11974061, EBI-744081;
CC Q9UIG4; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-11974061, EBI-9090990;
CC Q9UIG4; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-11974061, EBI-741480;
CC Q9UIG4; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-11974061, EBI-947187;
CC Q9UIG4; P50552: VASP; NbExp=4; IntAct=EBI-11974061, EBI-748201;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in skin. Also expressed in heart and
CC skeletal muscle. {ECO:0000269|PubMed:12930300}.
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DR EMBL; AB031480; BAA88131.1; -; mRNA.
DR EMBL; AF484420; AAO49377.1; -; mRNA.
DR EMBL; BA000025; BAB63315.1; -; Genomic_DNA.
DR EMBL; AB088114; BAC54949.1; -; Genomic_DNA.
DR EMBL; AL662844; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS4694.1; -.
DR RefSeq; NP_054788.2; NM_014069.2.
DR AlphaFoldDB; Q9UIG4; -.
DR BioGRID; 128076; 31.
DR IntAct; Q9UIG4; 26.
DR STRING; 9606.ENSP00000259845; -.
DR iPTMnet; Q9UIG4; -.
DR PhosphoSitePlus; Q9UIG4; -.
DR BioMuta; PSORS1C2; -.
DR PaxDb; Q9UIG4; -.
DR PeptideAtlas; Q9UIG4; -.
DR PRIDE; Q9UIG4; -.
DR Antibodypedia; 53231; 13 antibodies from 6 providers.
DR DNASU; 170680; -.
DR Ensembl; ENST00000259845.5; ENSP00000259845.4; ENSG00000204538.4.
DR Ensembl; ENST00000383530.2; ENSP00000373022.2; ENSG00000206459.2.
DR Ensembl; ENST00000413924.2; ENSP00000398734.2; ENSG00000227246.2.
DR Ensembl; ENST00000416027.2; ENSP00000390931.2; ENSG00000232127.2.
DR Ensembl; ENST00000422316.2; ENSP00000403456.2; ENSG00000234605.2.
DR Ensembl; ENST00000458589.2; ENSP00000414952.2; ENSG00000224544.2.
DR GeneID; 170680; -.
DR KEGG; hsa:170680; -.
DR MANE-Select; ENST00000259845.5; ENSP00000259845.4; NM_014069.3; NP_054788.2.
DR UCSC; uc003nso.5; human.
DR CTD; 170680; -.
DR DisGeNET; 170680; -.
DR GeneCards; PSORS1C2; -.
DR HGNC; HGNC:17199; PSORS1C2.
DR HPA; ENSG00000204538; Tissue enriched (skin).
DR MIM; 613526; gene.
DR neXtProt; NX_Q9UIG4; -.
DR OpenTargets; ENSG00000204538; -.
DR PharmGKB; PA33920; -.
DR VEuPathDB; HostDB:ENSG00000204538; -.
DR eggNOG; ENOG502QQEE; Eukaryota.
DR GeneTree; ENSGT00390000013322; -.
DR HOGENOM; CLU_1880263_0_0_1; -.
DR InParanoid; Q9UIG4; -.
DR OMA; LPDDPWP; -.
DR OrthoDB; 1622929at2759; -.
DR PhylomeDB; Q9UIG4; -.
DR TreeFam; TF337801; -.
DR PathwayCommons; Q9UIG4; -.
DR SignaLink; Q9UIG4; -.
DR BioGRID-ORCS; 170680; 11 hits in 1064 CRISPR screens.
DR GenomeRNAi; 170680; -.
DR Pharos; Q9UIG4; Tbio.
DR PRO; PR:Q9UIG4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9UIG4; protein.
DR Bgee; ENSG00000204538; Expressed in skin of leg and 75 other tissues.
DR ExpressionAtlas; Q9UIG4; baseline and differential.
DR Genevisible; Q9UIG4; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR029271; SPR1.
DR PANTHER; PTHR31853; PTHR31853; 1.
DR Pfam; PF15356; SPR1; 1.
PE 1: Evidence at protein level;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..136
FT /note="Psoriasis susceptibility 1 candidate gene 2 protein"
FT /id="PRO_0000022159"
FT REGION 20..136
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..72
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 84..119
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 120..136
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 25
FT /note="G -> D (in dbSNP:rs2233950)"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017395"
FT VARIANT 83
FT /note="L -> P (in dbSNP:rs2233952)"
FT /evidence="ECO:0000269|PubMed:10545595,
FT ECO:0000269|PubMed:12930300, ECO:0000269|PubMed:16702430,
FT ECO:0000269|Ref.3"
FT /id="VAR_063104"
FT VARIANT 84
FT /note="P -> L"
FT /evidence="ECO:0000269|PubMed:12930300"
FT /id="VAR_017396"
SQ SEQUENCE 136 AA; 15101 MW; 2BD5C2F378F1DAE1 CRC64;
MILNWKLLGI LVLCLHTRGI SGSEGHPSHP PAEDREEAGS PTLPQGPPVP GDPWPGAPPL
FEDPPPTRPS RPWRDLPETG VWLPEPPRTD PPQPPRPDDP WPAGPQPPEN PWPPAPEVDN
RPQEEPDLDP PREEYR
