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Keratin-associated protein 5-8 (Keratin, ultra high-sulfur matrix protein B) (Keratin-associated protein 5.8) (UHS keratin B) (UHS KerB) (Ultrahigh sulfur keratin-associated protein 5.8)

 KRA58_HUMAN             Reviewed;         187 AA.
O75690; Q6L8G7; Q6UTX6;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
21-DEC-2004, sequence version 2.
25-OCT-2017, entry version 115.
RecName: Full=Keratin-associated protein 5-8;
AltName: Full=Keratin, ultra high-sulfur matrix protein B;
AltName: Full=Keratin-associated protein 5.8;
AltName: Full=UHS keratin B;
Short=UHS KerB;
AltName: Full=Ultrahigh sulfur keratin-associated protein 5.8;
Name=KRTAP5-8; Synonyms=KAP5.8, KRTAP5.8, UHSKB;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=10023043; DOI=10.1016/S0378-1119(98)00616-7;
Perez C., Auriol J., Gerst C., Bernard B.A., Egly J.-M.;
"Genomic organization and promoter characterization of two human UHS
keratin genes.";
Gene 227:137-148(1999).
[2]
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Hair root;
PubMed=15144888; DOI=10.1016/j.bbrc.2004.04.074;
Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J.,
Shimizu N.;
"Identification of two novel clusters of ultrahigh-sulfur keratin-
associated protein genes on human chromosome 11.";
Biochem. Biophys. Res. Commun. 318:655-664(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Zhou G., Yu R., Li H., Shen C., Li M., Xiao W., Zhong G., Lin L.,
Yang S.;
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
-!- FUNCTION: In the hair cortex, hair keratin intermediate filaments
are embedded in an interfilamentous matrix, consisting of hair
keratin-associated protein (KRTAP), which are essential for the
formation of a rigid and resistant hair shaft through their
extensive disulfide bond cross-linking with abundant cysteine
residues of hair keratins. The matrix proteins include the high-
sulfur and high-glycine-tyrosine keratins.
-!- INTERACTION:
Q03014:HHEX; NbExp=4; IntAct=EBI-12134621, EBI-747421;
-!- TISSUE SPECIFICITY: Restricted to hair root, not detected in any
other tissues. Expressed in cuticle layers of differentiating hair
follicles. {ECO:0000269|PubMed:15144888}.
-!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
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EMBL; AJ006692; CAA07188.1; -; Genomic_DNA.
EMBL; AB126077; BAD20204.1; -; mRNA.
EMBL; AY360461; AAQ62965.1; -; mRNA.
CCDS; CCDS41683.1; -.
RefSeq; NP_066384.2; NM_021046.2.
UniGene; Hs.445245; -.
ProteinModelPortal; O75690; -.
IntAct; O75690; 3.
STRING; 9606.ENSP00000420723; -.
iPTMnet; O75690; -.
PhosphoSitePlus; O75690; -.
BioMuta; KRTAP5-8; -.
PaxDb; O75690; -.
PRIDE; O75690; -.
DNASU; 57830; -.
Ensembl; ENST00000398534; ENSP00000420723; ENSG00000241233.
GeneID; 57830; -.
KEGG; hsa:57830; -.
UCSC; uc001oqr.1; human.
CTD; 57830; -.
EuPathDB; HostDB:ENSG00000241233.3; -.
GeneCards; KRTAP5-8; -.
HGNC; HGNC:23603; KRTAP5-8.
neXtProt; NX_O75690; -.
OpenTargets; ENSG00000241233; -.
PharmGKB; PA134954599; -.
GeneTree; ENSGT00810000126950; -.
OMA; QFSCCKP; -.
Reactome; R-HSA-6805567; Keratinization.
GenomeRNAi; 57830; -.
PRO; PR:O75690; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000241233; -.
CleanEx; HS_KRTAP5-8; -.
Genevisible; O75690; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0045095; C:keratin filament; IEA:InterPro.
GO; GO:0030280; F:structural constituent of epidermis; NAS:UniProtKB.
GO; GO:0031424; P:keratinization; TAS:Reactome.
InterPro; IPR002494; KAP.
PANTHER; PTHR23262; PTHR23262; 3.
1: Evidence at protein level;
Complete proteome; Keratin; Polymorphism; Reference proteome; Repeat.
CHAIN 1 187 Keratin-associated protein 5-8.
/FTId=PRO_0000184106.
REPEAT 28 31 1.
REPEAT 34 37 2.
REPEAT 40 43 3.
REPEAT 109 112 4.
REPEAT 119 122 5.
REPEAT 138 141 6.
REPEAT 148 151 7.
REPEAT 167 170 8.
REPEAT 177 180 9.
REGION 28 180 9 X 4 AA repeats of C-C-X-P.
VARIANT 28 28 C -> R (in dbSNP:rs55921335).
/FTId=VAR_062156.
CONFLICT 27 28 SC -> GCGGCGSSR (in Ref. 1; CAA07188).
{ECO:0000305}.
CONFLICT 29 29 C -> R (in Ref. 3; AAQ62965).
{ECO:0000305}.
CONFLICT 91 91 Y -> C (in Ref. 3; AAQ62965).
{ECO:0000305}.
SEQUENCE 187 AA; 17519 MW; 4FFD0AEC2D37432A CRC64;
MGCCGCSGGC GSGCGGCGSG CGGCGSSCCV PICCCKPVCC CVPACSCSSC GSCGGSKGGR
GSCGGSKGDC GSCGGSKGGC GSCGCSQCSC YKPCCCSSGC GSSCCQSSCC KPCCSQSSCC
KPCSCSSGCG SSCCQSSCCK PCCSQSSCCK PCCCSSGCGS SCCQSSCCKP CCSQSSCCVP
ICCQCKI


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