KRA51_HUMAN
ID KRA51_HUMAN Reviewed; 278 AA.
AC Q6L8H4;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Keratin-associated protein 5-1;
DE AltName: Full=Keratin, cuticle, ultrahigh sulphur 1-like;
DE AltName: Full=Keratin-associated protein 5.1;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 5.1;
GN Name=KRTAP5-1; Synonyms=KAP5.1, KRN1L, KRTAP5.1;
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], 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).
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 -!- SUBUNIT: Interacts with hair keratins.
CC -!- INTERACTION:
CC Q6L8H4; Q49AN0: CRY2; NbExp=3; IntAct=EBI-12074540, EBI-2212355;
CC Q6L8H4; Q9H4G1: CST9L; NbExp=3; IntAct=EBI-12074540, EBI-3923092;
CC Q6L8H4; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-12074540, EBI-746300;
CC Q6L8H4; Q9BQ66: KRTAP4-12; NbExp=3; IntAct=EBI-12074540, EBI-739863;
CC Q6L8H4; Q6L8H2: KRTAP5-3; NbExp=3; IntAct=EBI-12074540, EBI-11974251;
CC Q6L8H4; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-12074540, EBI-10250562;
CC Q6L8H4; Q8N339: MT1M; NbExp=3; IntAct=EBI-12074540, EBI-3911571;
CC Q6L8H4; A2BDE7: PHLDA1; NbExp=3; IntAct=EBI-12074540, EBI-14084211;
CC Q6L8H4; Q9H3U7: SMOC2; NbExp=3; IntAct=EBI-12074540, EBI-12767060;
CC Q6L8H4; Q86XF7: ZNF575; NbExp=3; IntAct=EBI-12074540, EBI-14069183;
CC -!- TISSUE SPECIFICITY: Expressed in hair root but not in skin. Expressed
CC also in lung, pancreas, ovary, testis. {ECO:0000269|PubMed:15144888}.
CC -!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
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DR EMBL; AB126070; BAD20197.1; -; mRNA.
DR CCDS; CCDS31330.1; -.
DR RefSeq; NP_001005922.1; NM_001005922.1.
DR AlphaFoldDB; Q6L8H4; -.
DR BioGRID; 132266; 11.
DR IntAct; Q6L8H4; 10.
DR STRING; 9606.ENSP00000371606; -.
DR iPTMnet; Q6L8H4; -.
DR PhosphoSitePlus; Q6L8H4; -.
DR BioMuta; KRTAP5-1; -.
DR MassIVE; Q6L8H4; -.
DR PaxDb; Q6L8H4; -.
DR PeptideAtlas; Q6L8H4; -.
DR PRIDE; Q6L8H4; -.
DR ProteomicsDB; 66554; -.
DR DNASU; 387264; -.
DR Ensembl; ENST00000382171.2; ENSP00000371606.2; ENSG00000205869.2.
DR Ensembl; ENST00000619083.1; ENSP00000481419.1; ENSG00000278210.1.
DR Ensembl; ENST00000625554.1; ENSP00000486084.1; ENSG00000280585.1.
DR GeneID; 387264; -.
DR KEGG; hsa:387264; -.
DR MANE-Select; ENST00000382171.2; ENSP00000371606.2; NM_001005922.1; NP_001005922.1.
DR UCSC; uc001ltu.1; human.
DR CTD; 387264; -.
DR DisGeNET; 387264; -.
DR GeneCards; KRTAP5-1; -.
DR HGNC; HGNC:23596; KRTAP5-1.
DR HPA; ENSG00000205869; Tissue enhanced (pituitary).
DR MIM; 148022; gene.
DR neXtProt; NX_Q6L8H4; -.
DR OpenTargets; ENSG00000205869; -.
DR PharmGKB; PA134874098; -.
DR VEuPathDB; HostDB:ENSG00000205869; -.
DR GeneTree; ENSGT00950000186553; -.
DR HOGENOM; CLU_097966_0_0_1; -.
DR OMA; VEGCTNG; -.
DR PathwayCommons; Q6L8H4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q6L8H4; -.
DR BioGRID-ORCS; 387264; 211 hits in 1062 CRISPR screens.
DR GenomeRNAi; 387264; -.
DR Pharos; Q6L8H4; Tdark.
DR PRO; PR:Q6L8H4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6L8H4; protein.
DR Bgee; ENSG00000205869; Expressed in cerebellar hemisphere and 88 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 3.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..278
FT /note="Keratin-associated protein 5-1"
FT /id="PRO_0000184099"
FT REPEAT 42..45
FT /note="1"
FT REPEAT 48..51
FT /note="2"
FT REPEAT 130..133
FT /note="3"
FT REPEAT 136..139
FT /note="4"
FT REPEAT 142..145
FT /note="5"
FT REPEAT 239..242
FT /note="6"
FT REPEAT 258..261
FT /note="7"
FT REPEAT 268..271
FT /note="8"
FT REGION 42..271
FT /note="8 X 4 AA repeats of C-C-X-P"
SQ SEQUENCE 278 AA; 24194 MW; 75E235FDB8AD66F5 CRC64;
MGCCGCSGGC GSSCGGCGSG CGGCGSGCGG CGSGCGGSGS SCCVPVCCCK PVCCRVPTCS
CSSCGKGGCG SSGGSKGGCG SCGGCKGGCG SCGGSKGGCG SCGGSKGGCG SCGGSKGGCG
SGCGGCGSSC CVPVCCCKPM CCCVPACSCS SCGKGGCGSC GCSKGACGSC GGSKGGCGSC
GGCKGGCGSC GGSKGGCGSG CGGCGSGCGV PVCCCSCSSC GSCAGSKGGC GSSCSQCSCC
KPCCCSSGCG SSCCQSSCCK PCCSQSSCCV PVCCQCKI