KRA14_HUMAN
ID KRA14_HUMAN Reviewed; 121 AA.
AC P0C5Y4; A6NJ92;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 1.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Keratin-associated protein 1-4;
DE AltName: Full=High sulfur keratin-associated protein 1.4;
DE AltName: Full=Keratin-associated protein 1.4;
GN Name=KRTAP1-4; Synonyms=KAP1.4, KRTAP1.4;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=11279113; DOI=10.1074/jbc.m100657200;
RA Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Korn B.,
RA Schweizer J.;
RT "Characterization of a cluster of human high/ultrahigh sulfur keratin-
RT associated protein genes embedded in the type I keratin gene domain on
RT chromosome 17q12-21.";
RL J. Biol. Chem. 276:19440-19451(2001).
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated proteins (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 -!- TISSUE SPECIFICITY: Expressed in the middle/upper portions of the hair
CC cortex, in the region termed the keratogenous zone.
CC {ECO:0000269|PubMed:11279113}.
CC -!- SIMILARITY: Belongs to the KRTAP type 1 family. {ECO:0000305}.
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DR EMBL; AC007455; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS58548.1; -.
DR RefSeq; NP_001244234.1; NM_001257305.1.
DR AlphaFoldDB; P0C5Y4; -.
DR STRING; 9606.ENSP00000366976; -.
DR BioMuta; KRTAP1-4; -.
DR DMDM; 162416160; -.
DR MassIVE; P0C5Y4; -.
DR PaxDb; P0C5Y4; -.
DR PeptideAtlas; P0C5Y4; -.
DR PRIDE; P0C5Y4; -.
DR DNASU; 728255; -.
DR Ensembl; ENST00000377747.5; ENSP00000366976.4; ENSG00000204887.5.
DR Ensembl; ENST00000576814.2; ENSP00000458243.2; ENSG00000263242.2.
DR GeneID; 728255; -.
DR KEGG; hsa:728255; -.
DR MANE-Select; ENST00000377747.5; ENSP00000366976.4; NM_001257305.2; NP_001244234.1.
DR UCSC; uc031raf.2; human.
DR CTD; 728255; -.
DR GeneCards; KRTAP1-4; -.
DR HGNC; HGNC:18904; KRTAP1-4.
DR HPA; ENSG00000204887; Not detected.
DR MIM; 608821; gene.
DR neXtProt; NX_P0C5Y4; -.
DR VEuPathDB; HostDB:ENSG00000204887; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000160443; -.
DR HOGENOM; CLU_109417_0_0_1; -.
DR InParanoid; P0C5Y4; -.
DR OMA; GSSCCES; -.
DR OrthoDB; 1581613at2759; -.
DR PhylomeDB; P0C5Y4; -.
DR PathwayCommons; P0C5Y4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 728255; 13 hits in 1059 CRISPR screens.
DR GenomeRNAi; 728255; -.
DR Pharos; P0C5Y4; Tdark.
DR PRO; PR:P0C5Y4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P0C5Y4; protein.
DR Bgee; ENSG00000204887; Expressed in skin of abdomen and 17 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; 1.
DR Pfam; PF01500; Keratin_B2; 1.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..121
FT /note="Keratin-associated protein 1-4"
FT /id="PRO_0000312505"
SQ SEQUENCE 121 AA; 12324 MW; 55FDE67F43900398 CRC64;
MASCSTSGTC GSSCCQPSCC ETSCCQPSCC QTSSCGTGCG IGGGIGYGQE GSGGSVSTRI
RWCHPDCHVE GTCLPPCYLV SCTPPSCCQL HHAEASCCRP SYCGQSCCRP ACCCHCCEPT
C