KRA46_HUMAN
ID KRA46_HUMAN Reviewed; 205 AA.
AC Q9BYQ5; Q9BYR1;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 4.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Keratin-associated protein 4-6;
DE AltName: Full=Keratin-associated protein 4-15;
DE AltName: Full=Keratin-associated protein 4.15;
DE AltName: Full=Keratin-associated protein 4.6;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.15;
GN Name=KRTAP4-6; Synonyms=KAP4.15, KRTAP4-15, KRTAP4.15, KRTAP4.6;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 13-205.
RC TISSUE=Scalp;
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).
RN [3]
RP TISSUE SPECIFICITY, AND POLYMORPHISM.
RX PubMed=15955084; DOI=10.1111/j.0022-202x.2005.23662.x;
RA Kariya N., Shimomura Y., Ito M.;
RT "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated
RT protein 4, KAP4, gene family.";
RL J. Invest. Dermatol. 124:1111-1118(2005).
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 hair follicles.
CC {ECO:0000269|PubMed:15955084}.
CC -!- POLYMORPHISM: Numerous size polymorphism are present in KRTAP4 gene
CC family, which are mainly due to variations in the sequence encoding
CC cysteine-rich repeat segments (PubMed:15955084). Allele shown is
CC KAP4.15 (PubMed:15955084). {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAC27577.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ406945; CAC27584.1; -; mRNA.
DR EMBL; AJ406938; CAC27577.1; ALT_SEQ; mRNA.
DR CCDS; CCDS54125.1; -.
DR RefSeq; NP_112238.1; NM_030976.1.
DR AlphaFoldDB; Q9BYQ5; -.
DR PhosphoSitePlus; Q9BYQ5; -.
DR BioMuta; KRTAP4-6; -.
DR DMDM; 322510121; -.
DR MassIVE; Q9BYQ5; -.
DR PaxDb; Q9BYQ5; -.
DR PeptideAtlas; Q9BYQ5; -.
DR PRIDE; Q9BYQ5; -.
DR ProteomicsDB; 79685; -.
DR DNASU; 81871; -.
DR Ensembl; ENST00000345847.4; ENSP00000328270.5; ENSG00000198090.3.
DR GeneID; 81871; -.
DR KEGG; hsa:81871; -.
DR MANE-Select; ENST00000345847.5; ENSP00000328270.5; NM_030976.2; NP_112238.1.
DR UCSC; uc060fas.1; human.
DR CTD; 81871; -.
DR GeneCards; KRTAP4-6; -.
DR HGNC; HGNC:18909; KRTAP4-6.
DR HPA; ENSG00000198090; Tissue enriched (skin).
DR neXtProt; NX_Q9BYQ5; -.
DR OpenTargets; ENSG00000198090; -.
DR VEuPathDB; HostDB:ENSG00000198090; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000159486; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYQ5; -.
DR OMA; RPQGCIS; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYQ5; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 81871; 35 hits in 983 CRISPR screens.
DR GenomeRNAi; 81871; -.
DR Pharos; Q9BYQ5; Tdark.
DR PRO; PR:Q9BYQ5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYQ5; protein.
DR Bgee; ENSG00000198090; Expressed in upper arm skin and 26 other tissues.
DR Genevisible; Q9BYQ5; HS.
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; PF13885; Keratin_B2_2; 3.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..205
FT /note="Keratin-associated protein 4-6"
FT /id="PRO_0000185181"
FT REPEAT 20..24
FT /note="1"
FT REPEAT 25..29
FT /note="2"
FT REPEAT 30..34
FT /note="3"
FT REPEAT 35..39
FT /note="4"
FT REPEAT 40..44
FT /note="5"
FT REPEAT 45..49
FT /note="6"
FT REPEAT 50..54
FT /note="7"
FT REPEAT 55..59
FT /note="8"
FT REPEAT 60..64
FT /note="9"
FT REPEAT 65..68
FT /note="10"
FT REPEAT 69..73
FT /note="11"
FT REPEAT 74..78
FT /note="12"
FT REPEAT 79..83
FT /note="13"
FT REPEAT 84..88
FT /note="14"
FT REPEAT 89..93
FT /note="15"
FT REPEAT 94..98
FT /note="16"
FT REPEAT 99..103
FT /note="17"
FT REPEAT 104..108
FT /note="18"
FT REPEAT 114..118
FT /note="19"
FT REPEAT 119..123
FT /note="20"
FT REPEAT 124..128
FT /note="21"
FT REPEAT 129..133
FT /note="22"
FT REPEAT 134..138
FT /note="23"
FT REPEAT 139..143
FT /note="24"
FT REPEAT 144..148
FT /note="25"
FT REPEAT 149..153
FT /note="26"
FT REPEAT 154..158
FT /note="27"
FT REPEAT 159..163
FT /note="28"
FT REPEAT 164..168
FT /note="29"
FT REPEAT 169..173
FT /note="30"
FT REGION 20..173
FT /note="30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]-[STVQRCP]"
SQ SEQUENCE 205 AA; 21825 MW; FCB85AF744EA436A CRC64;
MVSSCCGSVC SDQGCGLETC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC
CRPSCCPSCC QTTCCRTTCC RPSCCVSSCC RPQCCQSVCC QPTCCRPSCS ISSCCRPSCC
VSRCCRSQCC QSVCCQPTCC RPSCCISSCC RPSCCESSCC RPCCCRPCCC LRPVCGRVSC
HTTCYRPTCV ISTCPRPLCC ASSCC
