XP32_HUMAN
ID XP32_HUMAN Reviewed; 250 AA.
AC Q5T750; O14634;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Skin-specific protein 32;
GN Name=XP32; Synonyms=C1orf68;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 131-250, AND TISSUE SPECIFICITY.
RC TISSUE=Skin;
RX PubMed=9344646; DOI=10.1006/geno.1997.4952;
RA Zhao X.P., Elder J.T.;
RT "Positional cloning of novel skin-specific genes from the human epidermal
RT differentiation complex.";
RL Genomics 45:250-258(1997).
RN [4]
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 -!- TISSUE SPECIFICITY: Expressed at high levels in normal and psoriatic
CC skin, but not in normal keratinocytes, A-431 cells, or any of the other
CC cell lines or tissues tested. {ECO:0000269|PubMed:9344646}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB83961.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL353779; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53369.1; -; Genomic_DNA.
DR EMBL; AF005081; AAB83961.1; ALT_FRAME; mRNA.
DR CCDS; CCDS44226.1; -.
DR RefSeq; NP_001019850.1; NM_001024679.2.
DR AlphaFoldDB; Q5T750; -.
DR BioGRID; 139295; 35.
DR IntAct; Q5T750; 9.
DR MINT; Q5T750; -.
DR STRING; 9606.ENSP00000357764; -.
DR GlyGen; Q5T750; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5T750; -.
DR PhosphoSitePlus; Q5T750; -.
DR BioMuta; C1orf68; -.
DR DMDM; 74745320; -.
DR MassIVE; Q5T750; -.
DR PaxDb; Q5T750; -.
DR PeptideAtlas; Q5T750; -.
DR PRIDE; Q5T750; -.
DR ProteomicsDB; 64637; -.
DR Antibodypedia; 50316; 9 antibodies from 7 providers.
DR DNASU; 100129271; -.
DR Ensembl; ENST00000368775.3; ENSP00000357764.2; ENSG00000198854.5.
DR GeneID; 100129271; -.
DR KEGG; hsa:100129271; -.
DR MANE-Select; ENST00000368775.3; ENSP00000357764.2; NM_001024679.3; NP_001019850.1.
DR UCSC; uc010pdu.3; human.
DR CTD; 100129271; -.
DR DisGeNET; 100129271; -.
DR GeneCards; C1orf68; -.
DR HGNC; HGNC:29468; C1orf68.
DR HPA; ENSG00000198854; Tissue enriched (skin).
DR neXtProt; NX_Q5T750; -.
DR OpenTargets; ENSG00000198854; -.
DR PharmGKB; PA142672518; -.
DR VEuPathDB; HostDB:ENSG00000198854; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00730000111580; -.
DR HOGENOM; CLU_085400_0_0_1; -.
DR InParanoid; Q5T750; -.
DR OMA; KCPPPCQ; -.
DR OrthoDB; 1169402at2759; -.
DR PhylomeDB; Q5T750; -.
DR TreeFam; TF351578; -.
DR PathwayCommons; Q5T750; -.
DR SignaLink; Q5T750; -.
DR BioGRID-ORCS; 100129271; 7 hits in 1037 CRISPR screens.
DR GenomeRNAi; 100129271; -.
DR Pharos; Q5T750; Tdark.
DR PRO; PR:Q5T750; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T750; protein.
DR Bgee; ENSG00000198854; Expressed in skin of leg and 82 other tissues.
DR Genevisible; Q5T750; HS.
DR GO; GO:0008544; P:epidermis development; NAS:UniProtKB.
DR InterPro; IPR026078; Skin_specific_32.
DR PANTHER; PTHR23263:SF4; PTHR23263:SF4; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..250
FT /note="Skin-specific protein 32"
FT /id="PRO_0000307808"
FT VARIANT 26
FT /note="S -> T (in dbSNP:rs1332500)"
FT /id="VAR_059739"
FT VARIANT 159
FT /note="T -> P (in dbSNP:rs873775)"
FT /id="VAR_059740"
FT VARIANT 173
FT /note="L -> V (in dbSNP:rs59194678)"
FT /id="VAR_061726"
FT CONFLICT 235
FT /note="R -> K (in Ref. 3; AAB83961)"
FT /evidence="ECO:0000305"
FT CONFLICT 238
FT /note="G -> S (in Ref. 3; AAB83961)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 250 AA; 26238 MW; 098B586CCE67D6E3 CRC64;
MCDQQKQPQF PPSCVKGSGL GAGQGSNGAS VKCPVPCQTQ TVCVTGPAPC PTQTYVKYQV
PCQTQTYVKC PAPCQRTYVK YPTPCQTYVK CPAPCQTTYV KCPTPCQTYV KCPAPCQMTY
IKSPAPCQTQ TCYVQGASPC QSYYVQAPAS GSTSQYCVTD PCSAPCSTSY CCLAPRTFGV
SPLRRWIQRP QNCNTGSSGC CENSGSSGCC GSGGCGCSCG CGSSGCCCLG IIPMRSRGPA
CCDHEDDCCC