SPR2D_HUMAN
ID SPR2D_HUMAN Reviewed; 72 AA.
AC P22532; A4QN03; A8K5K2; D3DV33; Q5T523; Q96RM3;
DT 01-AUG-1991, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Small proline-rich protein 2D;
DE Short=SPR-2D;
DE AltName: Full=Small proline-rich protein II;
DE Short=SPR-II;
GN Name=SPRR2D;
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 MRNA], AND VARIANT ALA-20.
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 [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].
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).
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; M21302; AAA36640.1; -; mRNA.
DR EMBL; AF333954; AAK70941.1; -; Genomic_DNA.
DR EMBL; AK291317; BAF84006.1; -; mRNA.
DR EMBL; AL356867; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471121; EAW53348.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53349.1; -; Genomic_DNA.
DR EMBL; CH471121; EAW53350.1; -; Genomic_DNA.
DR EMBL; BC120938; AAI20939.1; -; mRNA.
DR CCDS; CCDS30864.1; -.
DR RefSeq; NP_008876.3; NM_006945.4.
DR RefSeq; XP_016857664.1; XM_017002175.1.
DR AlphaFoldDB; P22532; -.
DR BioGRID; 112581; 29.
DR IntAct; P22532; 6.
DR MINT; P22532; -.
DR STRING; 9606.ENSP00000357746; -.
DR iPTMnet; P22532; -.
DR PhosphoSitePlus; P22532; -.
DR BioMuta; SPRR2D; -.
DR jPOST; P22532; -.
DR MassIVE; P22532; -.
DR MaxQB; P22532; -.
DR PaxDb; P22532; -.
DR PeptideAtlas; P22532; -.
DR PRIDE; P22532; -.
DR ProteomicsDB; 53999; -.
DR Antibodypedia; 71322; 7 antibodies from 7 providers.
DR DNASU; 6703; -.
DR Ensembl; ENST00000360379.4; ENSP00000353542.3; ENSG00000163216.7.
DR Ensembl; ENST00000368756.1; ENSP00000357745.1; ENSG00000163216.7.
DR Ensembl; ENST00000368757.1; ENSP00000357746.1; ENSG00000163216.7.
DR Ensembl; ENST00000368758.3; ENSP00000357747.3; ENSG00000163216.7.
DR GeneID; 6703; -.
DR KEGG; hsa:6703; -.
DR MANE-Select; ENST00000360379.4; ENSP00000353542.3; NM_006945.5; NP_008876.3.
DR UCSC; uc001fbb.2; human.
DR CTD; 6703; -.
DR GeneCards; SPRR2D; -.
DR HGNC; HGNC:11264; SPRR2D.
DR HPA; ENSG00000163216; Tissue enriched (esophagus).
DR MIM; 617587; gene.
DR neXtProt; NX_P22532; -.
DR OpenTargets; ENSG00000163216; -.
DR PharmGKB; PA36093; -.
DR VEuPathDB; HostDB:ENSG00000163216; -.
DR eggNOG; ENOG502TM5C; Eukaryota.
DR GeneTree; ENSGT00940000163622; -.
DR HOGENOM; CLU_192372_0_0_1; -.
DR OMA; IKCTEKC; -.
DR PathwayCommons; P22532; -.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P22532; -.
DR BioGRID-ORCS; 6703; 15 hits in 633 CRISPR screens.
DR GenomeRNAi; 6703; -.
DR Pharos; P22532; Tdark.
DR PRO; PR:P22532; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; P22532; protein.
DR Bgee; ENSG00000163216; Expressed in lower esophagus mucosa and 89 other tissues.
DR Genevisible; P22532; HS.
DR GO; GO:0001533; C:cornified envelope; TAS:Reactome.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
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 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 2D"
FT /id="PRO_0000150010"
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-[PS]"
FT REGION 33..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 20
FT /note="T -> A (in dbSNP:rs1846857)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_053049"
FT CONFLICT 22
FT /note="K -> N (in Ref. 1; AAA36640)"
FT /evidence="ECO:0000305"
FT CONFLICT 32
FT /note="C -> S (in Ref. 1; AAA36640)"
FT /evidence="ECO:0000305"
FT CONFLICT 38..39
FT /note="SP -> PS (in Ref. 1; AAA36640)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 72 AA; 7905 MW; 87B4502DD773D448 CRC64;
MSYQQQQCKQ PCQPPPVCPT PKCPEPCPPP KCPEPCPSPK CPQPCPPQQC QQKYPPVTPS
PPCQPKCPPK SK
