SPR1A_HUMAN
ID SPR1A_HUMAN Reviewed; 89 AA.
AC P35321; B1AN47; D3DV31; Q2M303; Q9UDG4;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Cornifin-A;
DE AltName: Full=19 kDa pancornulin;
DE AltName: Full=SPRK;
DE AltName: Full=Small proline-rich protein IA;
DE Short=SPR-IA;
GN Name=SPRR1A;
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 [GENOMIC DNA], AND VARIANTS GLN-42 AND ILE-61.
RC TISSUE=Skin;
RX PubMed=8325635; DOI=10.1006/geno.1993.1240;
RA Gibbs S., Fijneman R., Wiegant J., Geurts van Kessel A., van de Putte P.,
RA Backendorf C.;
RT "Molecular characterization and evolution of the SPRR family of
RT keratinocyte differentiation markers encoding small proline-rich
RT proteins.";
RL Genomics 16:630-637(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8018055; DOI=10.1016/0003-9969(94)90051-5;
RA Robinson P.A., Marley J.J., High A.S., Hume W.J.;
RT "Differential expression of protease inhibitor and small proline-rich
RT protein genes between normal human oral tissue and odontogenic
RT keratocysts.";
RL Arch. Oral Biol. 39:251-259(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS GLN-42 AND ILE-61.
RG NIEHS SNPs program;
RL Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
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 [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLN-42 AND ILE-61.
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 [7]
RP PROTEIN SEQUENCE OF 8-31 AND 53-85.
RC TISSUE=Keratinocyte;
RX PubMed=7829876; DOI=10.1111/1523-1747.ep12612759;
RA Greco M.A., Lorand L., Lane W.S., Baden H.P., Parameswaran K.N.P.,
RA Kvedar J.C.;
RT "The pancornulins: a group of small proline rich-related cornified envelope
RT precursors with bifunctional capabilities in isopeptide bond formation.";
RL J. Invest. Dermatol. 104:204-210(1995).
CC -!- FUNCTION: Cross-linked envelope protein of keratinocytes. It is a
CC keratinocyte protein that first appears in the cell cytosol, but
CC ultimately becomes cross-linked to membrane proteins by
CC transglutaminase. All that results in the formation of an insoluble
CC envelope beneath the plasma membrane.
CC -!- INTERACTION:
CC P35321; Q8NBF1: GLIS1; NbExp=3; IntAct=EBI-6149907, EBI-12111022;
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- INDUCTION: During squamous differentiation of epidermal keratinocytes.
CC -!- SIMILARITY: Belongs to the cornifin (SPRR) family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/sprr1a/";
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DR EMBL; L05187; AAC26838.1; -; Genomic_DNA.
DR EMBL; AY755659; AAU88143.1; -; Genomic_DNA.
DR EMBL; AL356867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53355.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53356.1; -; Genomic_DNA.
DR EMBL; BC105081; AAI05082.1; -; mRNA.
DR EMBL; BC105083; AAI05084.1; -; mRNA.
DR CCDS; CCDS1032.1; -.
DR PIR; I54187; I54187.
DR RefSeq; NP_001186757.1; NM_001199828.1.
DR RefSeq; NP_005978.2; NM_005987.3.
DR AlphaFoldDB; P35321; -.
DR BioGRID; 112576; 17.
DR IntAct; P35321; 4.
DR MINT; P35321; -.
DR STRING; 9606.ENSP00000357751; -.
DR GlyGen; P35321; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P35321; -.
DR PhosphoSitePlus; P35321; -.
DR BioMuta; SPRR1A; -.
DR DMDM; 215273890; -.
DR UCD-2DPAGE; P35321; -.
DR EPD; P35321; -.
DR MassIVE; P35321; -.
DR PaxDb; P35321; -.
DR PeptideAtlas; P35321; -.
DR PRIDE; P35321; -.
DR ProteomicsDB; 55022; -.
DR Antibodypedia; 54235; 109 antibodies from 19 providers.
DR DNASU; 6698; -.
DR Ensembl; ENST00000368762.1; ENSP00000357751.1; ENSG00000169474.4.
DR GeneID; 6698; -.
DR KEGG; hsa:6698; -.
DR MANE-Select; ENST00000368762.2; ENSP00000357751.1; NM_005987.4; NP_005978.2.
DR UCSC; uc057lan.1; human.
DR CTD; 6698; -.
DR DisGeNET; 6698; -.
DR GeneCards; SPRR1A; -.
DR HGNC; HGNC:11259; SPRR1A.
DR HPA; ENSG00000169474; Tissue enriched (esophagus).
DR MIM; 182265; gene.
DR neXtProt; NX_P35321; -.
DR OpenTargets; ENSG00000169474; -.
DR PharmGKB; PA36088; -.
DR VEuPathDB; HostDB:ENSG00000169474; -.
DR eggNOG; ENOG502SCIR; Eukaryota.
DR GeneTree; ENSGT00940000163248; -.
DR HOGENOM; CLU_186226_0_0_1; -.
DR InParanoid; P35321; -.
DR OMA; HPKFPEP; -.
DR OrthoDB; 1613497at2759; -.
DR PhylomeDB; P35321; -.
DR TreeFam; TF338205; -.
DR PathwayCommons; P35321; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P35321; -.
DR BioGRID-ORCS; 6698; 4 hits in 983 CRISPR screens.
DR ChiTaRS; SPRR1A; human.
DR GeneWiki; SPRR1A; -.
DR GenomeRNAi; 6698; -.
DR Pharos; P35321; Tbio.
DR PRO; PR:P35321; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P35321; protein.
DR Bgee; ENSG00000169474; Expressed in cervix squamous epithelium and 133 other tissues.
DR Genevisible; P35321; HS.
DR GO; GO:0001533; C:cornified envelope; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IDA:CAFA.
DR GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:0031424; P:keratinization; IEA:UniProtKB-KW.
DR GO; GO:0030216; P:keratinocyte differentiation; IDA:UniProtKB.
DR GO; GO:0018149; P:peptide cross-linking; IDA:UniProtKB.
DR InterPro; IPR003302; SPRR1/SPRR3.
DR PANTHER; PTHR23263:SF28; PTHR23263:SF28; 2.
PE 1: Evidence at protein level;
KW Cytoplasm; Direct protein sequencing; Keratinization; Reference proteome;
KW Repeat.
FT CHAIN 1..89
FT /note="Cornifin-A"
FT /id="PRO_0000149995"
FT REPEAT 3..14
FT /note="1"
FT REPEAT 18..29
FT /note="2"
FT REPEAT 31..38
FT /note="1"
FT REPEAT 39..46
FT /note="2"
FT REPEAT 47..54
FT /note="3"
FT REPEAT 55..62
FT /note="4"
FT REPEAT 63..70
FT /note="5"
FT REPEAT 71..78
FT /note="6"
FT REGION 1..29
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3..29
FT /note="2 X 12 AA approximate repeats"
FT REGION 31..78
FT /note="6 X 8 AA approximate tandem repeats"
FT REGION 68..89
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 9..29
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 42
FT /note="H -> Q (in dbSNP:rs1611762)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:8325635, ECO:0000269|Ref.3"
FT /id="VAR_021097"
FT VARIANT 61
FT /note="V -> I (in dbSNP:rs1611764)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:8325635, ECO:0000269|Ref.3"
FT /id="VAR_021098"
FT CONFLICT 53
FT /note="V -> I (in Ref. 7; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 65
FT /note="Missing (in Ref. 7; AA sequence)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 89 AA; 9877 MW; C79E79931794D3D4 CRC64;
MNSQQQKQPC TPPPQPQQQQ VKQPCQPPPQ EPCIPKTKEP CHPKVPEPCH PKVPEPCQPK
VPEPCQPKVP EPCPSTVTPA PAQQKTKQK
