KRA48_HUMAN
ID KRA48_HUMAN Reviewed; 185 AA.
AC Q9BYQ9; A8MSH3;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 4.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Keratin-associated protein 4-8;
DE AltName: Full=Keratin-associated protein 4.8;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.8;
GN Name=KRTAP4-8; Synonyms=KAP4.8, KRTAP4.8;
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 72-185.
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). The sequence shown
CC corresponds to allele KAP4.8-v1 (PubMed:15955084).
CC {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
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DR EMBL; AC037482; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ406940; CAC27579.1; -; mRNA.
DR CCDS; CCDS45674.1; -.
DR RefSeq; NP_114166.1; NM_031960.2.
DR AlphaFoldDB; Q9BYQ9; -.
DR STRING; 9606.ENSP00000328444; -.
DR BioMuta; KRTAP4-8; -.
DR DMDM; 327478604; -.
DR MassIVE; Q9BYQ9; -.
DR PaxDb; Q9BYQ9; -.
DR PeptideAtlas; Q9BYQ9; -.
DR PRIDE; Q9BYQ9; -.
DR DNASU; 728224; -.
DR Ensembl; ENST00000333822.5; ENSP00000328444.4; ENSG00000204880.9.
DR GeneID; 728224; -.
DR KEGG; hsa:728224; -.
DR MANE-Select; ENST00000333822.5; ENSP00000328444.4; NM_031960.3; NP_114166.1.
DR UCSC; uc060fao.1; human.
DR CTD; 728224; -.
DR GeneCards; KRTAP4-8; -.
DR HGNC; HGNC:17230; KRTAP4-8.
DR HPA; ENSG00000204880; Tissue enriched (skin).
DR neXtProt; NX_Q9BYQ9; -.
DR OpenTargets; ENSG00000204880; -.
DR PharmGKB; PA38442; -.
DR VEuPathDB; HostDB:ENSG00000204880; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163975; -.
DR InParanoid; Q9BYQ9; -.
DR OMA; CHSQSCH; -.
DR OrthoDB; 1643507at2759; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYQ9; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 728224; 147 hits in 985 CRISPR screens.
DR GenomeRNAi; 728224; -.
DR Pharos; Q9BYQ9; Tbio.
DR PRO; PR:Q9BYQ9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYQ9; protein.
DR Bgee; ENSG00000204880; Expressed in skin of abdomen and 21 other tissues.
DR ExpressionAtlas; Q9BYQ9; baseline and differential.
DR Genevisible; Q9BYQ9; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR GO; GO:0007568; P:aging; IDA:UniProtKB.
DR GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
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..185
FT /note="Keratin-associated protein 4-8"
FT /id="PRO_0000185175"
FT REPEAT 14..18
FT /note="1"
FT REPEAT 19..23
FT /note="2"
FT REPEAT 24..28
FT /note="3"
FT REPEAT 39..43
FT /note="4"
FT REPEAT 44..48
FT /note="5"
FT REPEAT 49..53
FT /note="6"
FT REPEAT 54..58
FT /note="7"
FT REPEAT 59..63
FT /note="8"
FT REPEAT 64..68
FT /note="9"
FT REPEAT 69..73
FT /note="10"
FT REPEAT 74..78
FT /note="11"
FT REPEAT 79..83
FT /note="12"
FT REPEAT 84..88
FT /note="13"
FT REPEAT 89..93
FT /note="14"
FT REPEAT 94..98
FT /note="15"
FT REPEAT 99..103
FT /note="16"
FT REPEAT 104..108
FT /note="17"
FT REPEAT 109..113
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 134..138
FT /note="22"
FT REPEAT 139..143
FT /note="23"
FT REPEAT 144..148
FT /note="24"
FT REPEAT 149..164
FT /note="25"
FT REGION 14..164
FT /note="25 X 5 AA repeats of C-C-[IKRQVHEC]-[SPRT]-
FT [STCVQPR]"
FT CONFLICT 123
FT /note="N -> T (in Ref. 2; CAC27579)"
FT /evidence="ECO:0000305"
FT CONFLICT 126
FT /note="R -> H (in Ref. 2; CAC27579)"
FT /evidence="ECO:0000305"
FT CONFLICT 151
FT /note="L -> V (in Ref. 2; CAC27579)"
FT /evidence="ECO:0000305"
FT CONFLICT 168
FT /note="A -> T (in Ref. 2; CAC27579)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 185 AA; 19627 MW; DDA82ACE61234000 CRC64;
MVNSCCGSVC SDQGCGQDLC QETCCCPSCC QTTCCRTTCY RPSYSVSCCC RPQCCQSVCC
QPTCCRPSCC VSSCCKPQCC QSVCCQPTCC HPSCCISSCC RPSCCVSSCC KPQCCQSVCC
QPNCCRPSCS ISSCCRPSCC ESSCCRPCCC LRPVCGRVSC HTTCYRPACV ISTCPRPVCC
ASSCC
