KR241_HUMAN
ID KR241_HUMAN Reviewed; 254 AA.
AC Q3LI83; Q1XDX0;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Keratin-associated protein 24-1;
GN Name=KRTAP24-1; Synonyms=KAP24.1;
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].
RC TISSUE=Hair root;
RA Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.;
RT "Identification of complete keratin-associated protein (KAP) gene cluster
RT spanning 800 kb region on human chromosome 21q22.11.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Scalp;
RX PubMed=17235325; DOI=10.1038/sj.jid.5700702;
RA Rogers M.A., Winter H., Langbein L., Wollschlaeger A., Praetzel-Wunder S.,
RA Jave-Suarez L.F., Schweizer J.;
RT "Characterization of human KAP24.1, a cuticular hair keratin-associated
RT protein with unusual amino-acid composition and repeat structure.";
RL J. Invest. Dermatol. 127:1197-1204(2007).
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. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Specific expression in the middle/upper hair
CC cuticle. {ECO:0000269|PubMed:17235325}.
CC -!- MISCELLANEOUS: Has a low cysteine content when compared to the majority
CC of known KAP family members. Possesses several C-terminal tyrosine-
CC containing tandem decameric repeat structures.
CC -!- SIMILARITY: Belongs to the PMG family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-6 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AB096935; BAE46350.1; -; mRNA.
DR EMBL; AM238513; CAJ87483.1; -; mRNA.
DR CCDS; CCDS42915.1; -.
DR RefSeq; NP_001078924.1; NM_001085455.2.
DR AlphaFoldDB; Q3LI83; -.
DR STRING; 9606.ENSP00000339238; -.
DR PhosphoSitePlus; Q3LI83; -.
DR BioMuta; KRTAP24-1; -.
DR DMDM; 88909179; -.
DR MassIVE; Q3LI83; -.
DR PaxDb; Q3LI83; -.
DR PeptideAtlas; Q3LI83; -.
DR PRIDE; Q3LI83; -.
DR ProteomicsDB; 61775; -.
DR Antibodypedia; 22462; 29 antibodies from 14 providers.
DR DNASU; 643803; -.
DR Ensembl; ENST00000340345.6; ENSP00000339238.4; ENSG00000188694.6.
DR GeneID; 643803; -.
DR KEGG; hsa:643803; -.
DR MANE-Select; ENST00000340345.6; ENSP00000339238.4; NM_001085455.3; NP_001078924.1.
DR UCSC; uc002ynv.3; human.
DR CTD; 643803; -.
DR GeneCards; KRTAP24-1; -.
DR HGNC; HGNC:33902; KRTAP24-1.
DR HPA; ENSG00000188694; Tissue enriched (skin).
DR MIM; 618927; gene.
DR neXtProt; NX_Q3LI83; -.
DR PharmGKB; PA162393751; -.
DR VEuPathDB; HostDB:ENSG00000188694; -.
DR eggNOG; ENOG502RR8N; Eukaryota.
DR GeneTree; ENSGT00390000001157; -.
DR HOGENOM; CLU_1146869_0_0_1; -.
DR InParanoid; Q3LI83; -.
DR OMA; LWLLDNC; -.
DR OrthoDB; 1261407at2759; -.
DR PhylomeDB; Q3LI83; -.
DR TreeFam; TF337331; -.
DR PathwayCommons; Q3LI83; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 643803; 12 hits in 1069 CRISPR screens.
DR GenomeRNAi; 643803; -.
DR Pharos; Q3LI83; Tdark.
DR PRO; PR:Q3LI83; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q3LI83; protein.
DR Bgee; ENSG00000188694; Expressed in skin of abdomen and 2 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR InterPro; IPR007659; Keratin_matx.
DR InterPro; IPR007951; KRTAP_PMG.
DR PANTHER; PTHR23260; PTHR23260; 1.
DR Pfam; PF05287; PMG; 1.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..254
FT /note="Keratin-associated protein 24-1"
FT /id="PRO_0000223915"
FT REPEAT 193..202
FT /note="1"
FT REPEAT 203..212
FT /note="2"
FT REPEAT 213..222
FT /note="3"
FT REPEAT 223..232
FT /note="4"
FT REPEAT 233..242
FT /note="5"
FT REPEAT 243..252
FT /note="6"
FT REGION 193..252
FT /note="6 X 10 AA repeats of Y-[ILR]-[SVPC]-[NRTS]-[SNTG]-X-
FT [QHRP]-[PSY]-[QSL]-[SRK]"
SQ SEQUENCE 254 AA; 27719 MW; 18A51653AF7FDB59 CRC64;
MPAGSMSTTG YPGVCSTTSY RTHCYIPVTS SVTLSSSDLS PTFGHCLPSS YQGNLWLLDY
CQESYGEAPT CKSPSCEPKT CSTTGCDPSN SSVPCNSPSA GQVFSVCETT NVSPSPSCSP
STQTNGYVCN CHIPTRNASK ACQTLRNGSN CFGQLNCLSK SFQTLNHCRL STLGYKSYQN
PCFIPSYVSP LCYISNSCQP QSYLVRNYHY SSYRPTSCRP LSYLSRSFRS LSYIPSTFPP
LRYLCSGSRP LKCY