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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
 
 
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