KRA58_HUMAN
ID KRA58_HUMAN Reviewed; 187 AA.
AC O75690; Q6L8G7; Q6UTX6;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Keratin-associated protein 5-8;
DE AltName: Full=Keratin, ultra high-sulfur matrix protein B;
DE AltName: Full=Keratin-associated protein 5.8;
DE AltName: Full=UHS keratin B;
DE Short=UHS KerB;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 5.8;
GN Name=KRTAP5-8; Synonyms=KAP5.8, KRTAP5.8, UHSKB;
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].
RX PubMed=10023043; DOI=10.1016/s0378-1119(98)00616-7;
RA Perez C., Auriol J., Gerst C., Bernard B.A., Egly J.-M.;
RT "Genomic organization and promoter characterization of two human UHS
RT keratin genes.";
RL Gene 227:137-148(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Hair root;
RX PubMed=15144888; DOI=10.1016/j.bbrc.2004.04.074;
RA Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J.,
RA Shimizu N.;
RT "Identification of two novel clusters of ultrahigh-sulfur keratin-
RT associated protein genes on human chromosome 11.";
RL Biochem. Biophys. Res. Commun. 318:655-664(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Zhou G., Yu R., Li H., Shen C., Li M., Xiao W., Zhong G., Lin L., Yang S.;
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated protein (KRTAP), which are essential for the formation of a
CC rigid and resistant hair shaft through their extensive disulfide bond
CC cross-linking with abundant cysteine residues of hair keratins. The
CC matrix proteins include the high-sulfur and high-glycine-tyrosine
CC keratins.
CC -!- INTERACTION:
CC O75690; Q9UGL9: CRCT1; NbExp=3; IntAct=EBI-12134621, EBI-713677;
CC O75690; Q03014: HHEX; NbExp=3; IntAct=EBI-12134621, EBI-747421;
CC O75690; O96014: WNT11; NbExp=3; IntAct=EBI-12134621, EBI-8058160;
CC -!- TISSUE SPECIFICITY: Restricted to hair root, not detected in any other
CC tissues. Expressed in cuticle layers of differentiating hair follicles.
CC {ECO:0000269|PubMed:15144888}.
CC -!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
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DR EMBL; AJ006692; CAA07188.1; -; Genomic_DNA.
DR EMBL; AB126077; BAD20204.1; -; mRNA.
DR EMBL; AY360461; AAQ62965.1; -; mRNA.
DR CCDS; CCDS41683.1; -.
DR RefSeq; NP_066384.2; NM_021046.2.
DR AlphaFoldDB; O75690; -.
DR BioGRID; 121789; 3.
DR IntAct; O75690; 3.
DR STRING; 9606.ENSP00000420723; -.
DR iPTMnet; O75690; -.
DR PhosphoSitePlus; O75690; -.
DR BioMuta; KRTAP5-8; -.
DR PaxDb; O75690; -.
DR PeptideAtlas; O75690; -.
DR PRIDE; O75690; -.
DR Antibodypedia; 77457; 1 antibodies from 1 providers.
DR DNASU; 57830; -.
DR Ensembl; ENST00000398534.4; ENSP00000420723.1; ENSG00000241233.4.
DR GeneID; 57830; -.
DR KEGG; hsa:57830; -.
DR MANE-Select; ENST00000398534.4; ENSP00000420723.1; NM_021046.3; NP_066384.2.
DR UCSC; uc001oqr.1; human.
DR CTD; 57830; -.
DR GeneCards; KRTAP5-8; -.
DR HGNC; HGNC:23603; KRTAP5-8.
DR HPA; ENSG00000241233; Tissue enhanced (kidney, skin).
DR neXtProt; NX_O75690; -.
DR OpenTargets; ENSG00000241233; -.
DR PharmGKB; PA134954599; -.
DR VEuPathDB; HostDB:ENSG00000241233; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000164776; -.
DR HOGENOM; CLU_097966_0_0_1; -.
DR OMA; ANTGCAC; -.
DR PathwayCommons; O75690; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; O75690; -.
DR BioGRID-ORCS; 57830; 150 hits in 986 CRISPR screens.
DR GenomeRNAi; 57830; -.
DR Pharos; O75690; Tdark.
DR PRO; PR:O75690; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O75690; protein.
DR Bgee; ENSG00000241233; Expressed in periodontal ligament and 77 other tissues.
DR Genevisible; O75690; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR GO; GO:0030280; F:structural constituent of skin epidermis; NAS:UniProtKB.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 2.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..187
FT /note="Keratin-associated protein 5-8"
FT /id="PRO_0000184106"
FT REPEAT 28..31
FT /note="1"
FT REPEAT 34..37
FT /note="2"
FT REPEAT 40..43
FT /note="3"
FT REPEAT 109..112
FT /note="4"
FT REPEAT 119..122
FT /note="5"
FT REPEAT 138..141
FT /note="6"
FT REPEAT 148..151
FT /note="7"
FT REPEAT 167..170
FT /note="8"
FT REPEAT 177..180
FT /note="9"
FT REGION 28..180
FT /note="9 X 4 AA repeats of C-C-X-P"
FT VARIANT 28
FT /note="C -> R (in dbSNP:rs55921335)"
FT /id="VAR_062156"
FT CONFLICT 27..28
FT /note="SC -> GCGGCGSSR (in Ref. 1; CAA07188)"
FT /evidence="ECO:0000305"
FT CONFLICT 29
FT /note="C -> R (in Ref. 3; AAQ62965)"
FT /evidence="ECO:0000305"
FT CONFLICT 91
FT /note="Y -> C (in Ref. 3; AAQ62965)"
FT /evidence="ECO:0000305"
SQ 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
