SPR2E_HUMAN
ID SPR2E_HUMAN Reviewed; 72 AA.
AC P22531; Q5T9T4; Q96RM2;
DT 01-AUG-1991, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Small proline-rich protein 2E;
DE Short=SPR-2E;
DE AltName: Full=Small proline-rich protein II;
DE Short=SPR-II;
GN Name=SPRR2E;
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].
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].
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 -!- INDUCTION: During squamous differentiation of epidermal keratinocytes.
CC -!- SIMILARITY: Belongs to the cornifin (SPRR) family. {ECO:0000305}.
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DR EMBL; M20030; AAA36639.1; -; mRNA.
DR EMBL; AF333955; AAK70942.1; -; Genomic_DNA.
DR EMBL; AL139417; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS30866.1; -.
DR PIR; B27725; B27725.
DR RefSeq; NP_001019380.2; NM_001024209.3.
DR AlphaFoldDB; P22531; -.
DR BioGRID; 112582; 27.
DR IntAct; P22531; 13.
DR MINT; P22531; -.
DR STRING; 9606.ENSP00000357740; -.
DR iPTMnet; P22531; -.
DR PhosphoSitePlus; P22531; -.
DR BioMuta; SPRR2E; -.
DR MassIVE; P22531; -.
DR MaxQB; P22531; -.
DR PaxDb; P22531; -.
DR PeptideAtlas; P22531; -.
DR PRIDE; P22531; -.
DR Antibodypedia; 76994; 2 antibodies from 2 providers.
DR DNASU; 6704; -.
DR Ensembl; ENST00000368750.8; ENSP00000357739.3; ENSG00000203785.9.
DR Ensembl; ENST00000368751.1; ENSP00000357740.1; ENSG00000203785.9.
DR GeneID; 6704; -.
DR KEGG; hsa:6704; -.
DR MANE-Select; ENST00000368750.8; ENSP00000357739.3; NM_001024209.4; NP_001019380.2.
DR UCSC; uc001fbh.3; human.
DR CTD; 6704; -.
DR DisGeNET; 6704; -.
DR GeneCards; SPRR2E; -.
DR HGNC; HGNC:11265; SPRR2E.
DR HPA; ENSG00000203785; Tissue enhanced (esophagus, lymphoid tissue, skin, vagina).
DR MIM; 617588; gene.
DR neXtProt; NX_P22531; -.
DR OpenTargets; ENSG00000203785; -.
DR PharmGKB; PA36094; -.
DR VEuPathDB; HostDB:ENSG00000203785; -.
DR eggNOG; ENOG502TF4G; Eukaryota.
DR GeneTree; ENSGT00940000163622; -.
DR HOGENOM; CLU_192372_0_0_1; -.
DR OMA; PSQQKCP; -.
DR PathwayCommons; P22531; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P22531; -.
DR BioGRID-ORCS; 6704; 10 hits in 583 CRISPR screens.
DR ChiTaRS; SPRR2E; human.
DR GenomeRNAi; 6704; -.
DR Pharos; P22531; Tdark.
DR PRO; PR:P22531; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P22531; protein.
DR Bgee; ENSG00000203785; Expressed in lower esophagus mucosa and 78 other tissues.
DR GO; GO:0001533; C:cornified envelope; IDA:CAFA.
DR GO; GO:0005737; C:cytoplasm; 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:UniProtKB.
DR GO; GO:0008544; P:epidermis development; NAS:UniProtKB.
DR GO; GO:0031424; P:keratinization; IEA:UniProtKB-KW.
DR GO; GO:0018149; P:peptide cross-linking; IDA:CAFA.
DR DisProt; DP00130; -.
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 2E"
FT /id="PRO_0000150011"
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 CONFLICT 45
FT /note="C -> S (in Ref. 1; AAA36639)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 72 AA; 7855 MW; 87B4420A98A3D448 CRC64;
MSYQQQQCKQ PCQPPPVCPT PKCPEPCPPP KCPEPCPPPK CPQPCPPQQC QQKCPPVTPS
PPCQPKCPPK SK