SPR1B_HUMAN
ID SPR1B_HUMAN Reviewed; 89 AA.
AC P22528; B2R5H7; P22529; P22530; Q5T524;
DT 01-AUG-1991, integrated into UniProtKB/Swiss-Prot.
DT 20-DEC-2005, sequence version 2.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Cornifin-B;
DE AltName: Full=14.9 kDa pancornulin;
DE AltName: Full=Small proline-rich protein IB;
DE Short=SPR-IB;
GN Name=SPRR1B;
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 VARIANTS ILE-11; HIS-23; LEU-61 AND PRO-80.
RC TISSUE=Keratinocyte;
RX PubMed=3133554; DOI=10.1128/mcb.8.5.2195-2203.1988;
RA Kartasova T., van de Putte P.;
RT "Isolation, characterization, and UV-stimulated expression of two families
RT of genes encoding polypeptides of related structure in human epidermal
RT keratinocytes.";
RL Mol. Cell. Biol. 8:2195-2203(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ILE-11.
RC TISSUE=Placenta;
RX PubMed=8388378; DOI=10.1016/s0021-9258(18)82081-6;
RA An G., Wu R.;
RT "Isolation and characterization of the human spr1 gene and its regulation
RT of expression by phorbol ester and cyclic AMP.";
RL J. Biol. Chem. 268:10977-10982(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-11.
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ILE-11.
RG NIEHS SNPs program;
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-11.
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 23-36 AND 53-85, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
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. Can function as both amine donor
CC and acceptor in transglutaminase-mediated cross-linkage.
CC -!- SUBCELLULAR LOCATION: Cytoplasm.
CC -!- TISSUE SPECIFICITY: Suprabasal layers of squamous-differentiated
CC tissues such as epidermis, esophagus, tongue and trachea.
CC -!- DEVELOPMENTAL STAGE: Expressed during differentiation of squamous
CC cells.
CC -!- INDUCTION: By carcinogenic agents and by UV light. During squamous
CC differentiation of epidermal keratinocytes.
CC -!- PTM: The N-terminus is blocked.
CC -!- SIMILARITY: Belongs to the cornifin (SPRR) family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/sprr1b/";
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DR EMBL; M19888; AAA36636.1; -; mRNA.
DR EMBL; M21300; AAA36637.1; -; mRNA.
DR EMBL; M21301; AAA36638.1; -; mRNA.
DR EMBL; M84757; AAA36643.1; -; Genomic_DNA.
DR EMBL; AK312191; BAG35124.1; -; mRNA.
DR EMBL; AY787223; AAV40826.1; -; Genomic_DNA.
DR EMBL; AL356867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC056240; AAH56240.1; -; mRNA.
DR CCDS; CCDS30863.1; -.
DR PIR; A46709; A46709.
DR RefSeq; NP_003116.2; NM_003125.2.
DR AlphaFoldDB; P22528; -.
DR BioGRID; 112577; 51.
DR IntAct; P22528; 19.
DR MINT; P22528; -.
DR STRING; 9606.ENSP00000306461; -.
DR iPTMnet; P22528; -.
DR PhosphoSitePlus; P22528; -.
DR BioMuta; SPRR1B; -.
DR DMDM; 84028265; -.
DR UCD-2DPAGE; P22528; -.
DR EPD; P22528; -.
DR jPOST; P22528; -.
DR MassIVE; P22528; -.
DR MaxQB; P22528; -.
DR PaxDb; P22528; -.
DR PeptideAtlas; P22528; -.
DR PRIDE; P22528; -.
DR ProteomicsDB; 53997; -.
DR Antibodypedia; 54236; 102 antibodies from 20 providers.
DR DNASU; 6699; -.
DR Ensembl; ENST00000307098.5; ENSP00000306461.4; ENSG00000169469.9.
DR GeneID; 6699; -.
DR KEGG; hsa:6699; -.
DR MANE-Select; ENST00000307098.5; ENSP00000306461.4; NM_003125.3; NP_003116.2.
DR UCSC; uc001fba.4; human.
DR CTD; 6699; -.
DR DisGeNET; 6699; -.
DR GeneCards; SPRR1B; -.
DR HGNC; HGNC:11260; SPRR1B.
DR HPA; ENSG00000169469; Tissue enhanced (esophagus, salivary gland, vagina).
DR MIM; 182266; gene.
DR neXtProt; NX_P22528; -.
DR OpenTargets; ENSG00000169469; -.
DR PharmGKB; PA36089; -.
DR VEuPathDB; HostDB:ENSG00000169469; -.
DR eggNOG; ENOG502SCIR; Eukaryota.
DR GeneTree; ENSGT00940000163248; -.
DR HOGENOM; CLU_186226_0_0_1; -.
DR InParanoid; P22528; -.
DR OMA; PNPCVPR; -.
DR OrthoDB; 1613497at2759; -.
DR PhylomeDB; P22528; -.
DR TreeFam; TF338205; -.
DR PathwayCommons; P22528; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P22528; -.
DR SIGNOR; P22528; -.
DR BioGRID-ORCS; 6699; 91 hits in 994 CRISPR screens.
DR ChiTaRS; SPRR1B; human.
DR GeneWiki; SPRR1B; -.
DR GenomeRNAi; 6699; -.
DR Pharos; P22528; Tbio.
DR PRO; PR:P22528; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P22528; protein.
DR Bgee; ENSG00000169469; Expressed in amniotic fluid and 106 other tissues.
DR Genevisible; P22528; HS.
DR GO; GO:0001533; C:cornified envelope; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; TAS:ProtInc.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
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-B"
FT /id="PRO_0000149996"
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 COMPBIAS 1..24
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 11
FT /note="T -> I (in dbSNP:rs3795382)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:3133554,
FT ECO:0000269|PubMed:8388378, ECO:0000269|Ref.4"
FT /id="VAR_021099"
FT VARIANT 23
FT /note="Q -> H"
FT /evidence="ECO:0000269|PubMed:3133554"
FT /id="VAR_002164"
FT VARIANT 61
FT /note="V -> L (in dbSNP:rs768218193)"
FT /evidence="ECO:0000269|PubMed:3133554"
FT /id="VAR_002165"
FT VARIANT 80
FT /note="A -> P"
FT /evidence="ECO:0000269|PubMed:3133554"
FT /id="VAR_002166"
SQ SEQUENCE 89 AA; 9888 MW; 8B10DF32103496D3 CRC64;
MSSQQQKQPC TPPPQLQQQQ VKQPCQPPPQ EPCIPKTKEP CHPKVPEPCH PKVPEPCQPK
VPEPCHPKVP EPCPSIVTPA PAQQKTKQK
