SPR2B_HUMAN
ID SPR2B_HUMAN Reviewed; 72 AA.
AC P35325; Q5T528;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1994, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Small proline-rich protein 2B;
DE Short=SPR-2B;
GN Name=SPRR2B;
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].
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=11279051; DOI=10.1074/jbc.m100336200;
RA Cabral A., Voskamp P., Cleton-Jansen A.-M., South A., Nizetic D.,
RA Backendorf C.;
RT "Structural organization and regulation of the small proline-rich family of
RT cornified envelope precursors suggest a role in adaptive barrier
RT function.";
RL J. Biol. Chem. 276:19231-19237(2001).
RN [3]
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).
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 -!- 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 UV irradiation and carcinogenic agents. During squamous
CC differentiation of epidermal keratinocytes.
CC -!- SIMILARITY: Belongs to the cornifin (SPRR) family. {ECO:0000305}.
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DR EMBL; L05188; AAA60576.1; -; Genomic_DNA.
DR EMBL; AF333952; AAK70940.1; -; Genomic_DNA.
DR EMBL; AL356867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS30865.1; -.
DR PIR; I68511; I68511.
DR RefSeq; NP_001017418.1; NM_001017418.2.
DR RefSeq; XP_016857663.1; XM_017002174.1.
DR AlphaFoldDB; P35325; -.
DR BioGRID; 112579; 4.
DR IntAct; P35325; 4.
DR iPTMnet; P35325; -.
DR PhosphoSitePlus; P35325; -.
DR BioMuta; SPRR2B; -.
DR EPD; P35325; -.
DR jPOST; P35325; -.
DR MassIVE; P35325; -.
DR MaxQB; P35325; -.
DR PaxDb; P35325; -.
DR PeptideAtlas; P35325; -.
DR PRIDE; P35325; -.
DR DNASU; 6701; -.
DR Ensembl; ENST00000368755.3; ENSP00000357744.1; ENSG00000196805.8.
DR GeneID; 6701; -.
DR KEGG; hsa:6701; -.
DR MANE-Select; ENST00000368755.3; ENSP00000357744.1; NM_001388198.1; NP_001375127.1.
DR UCSC; uc057lau.1; human.
DR CTD; 6701; -.
DR DisGeNET; 6701; -.
DR GeneCards; SPRR2B; -.
DR HGNC; HGNC:11262; SPRR2B.
DR HPA; ENSG00000196805; Group enriched (esophagus, lymphoid tissue, salivary gland, skin, vagina).
DR MIM; 182268; gene.
DR neXtProt; NX_P35325; -.
DR OpenTargets; ENSG00000196805; -.
DR PharmGKB; PA36091; -.
DR VEuPathDB; HostDB:ENSG00000196805; -.
DR eggNOG; ENOG502TEHF; Eukaryota.
DR GeneTree; ENSGT00940000163622; -.
DR HOGENOM; CLU_192372_0_0_1; -.
DR OMA; CHPTECH; -.
DR PathwayCommons; P35325; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P35325; -.
DR BioGRID-ORCS; 6701; 38 hits in 267 CRISPR screens.
DR GenomeRNAi; 6701; -.
DR Pharos; P35325; Tdark.
DR PRO; PR:P35325; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P35325; protein.
DR Bgee; ENSG00000196805; Expressed in lower esophagus mucosa and 59 other tissues.
DR Genevisible; P35325; HS.
DR GO; GO:0001533; C:cornified envelope; TAS:Reactome.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0008544; P:epidermis development; NAS:UniProtKB.
DR GO; GO:0031424; P:keratinization; IEA:UniProtKB-KW.
DR GO; GO:0030216; P:keratinocyte differentiation; NAS:UniProtKB.
DR InterPro; IPR029142; SPRR2.
DR Pfam; PF14820; SPRR2; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Keratinization; Reference proteome; Repeat.
FT CHAIN 1..72
FT /note="Small proline-rich protein 2B"
FT /id="PRO_0000150009"
FT REPEAT 21..29
FT /note="1"
FT REPEAT 30..38
FT /note="2"
FT REPEAT 39..47
FT /note="3"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 21..47
FT /note="3 X 9 AA tandem repeats of P-K-C-P-[EQ]-P-C-P-P"
FT REGION 42..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 39
FT /note="P -> S (in dbSNP:rs1404957316)"
FT /id="VAR_034518"
SQ SEQUENCE 72 AA; 7975 MW; 87B452D0F8B63448 CRC64;
MSYQQQQCKQ PCQPPPVCPT PKCPEPCPPP KCPEPCPPPK CPQPCPPQQC QQKYPPVTPS
PPCQPKYPPK SK