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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
 
 
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