KRA43_HUMAN
ID KRA43_HUMAN Reviewed; 195 AA.
AC Q9BYR4;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 11-SEP-2007, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Keratin-associated protein 4-3;
DE AltName: Full=Keratin-associated protein 4.3;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.3;
GN Name=KRTAP4-3; Synonyms=KAP4.3, KRTAP4.3;
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 98-195.
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, POLYMORPHISM, AND VARIANTS 104-CYS--SER-133 DEL AND
RP 64-CYS--SER-64 INS.
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 specifically in the middle/uper portions
CC of the hair cortex. Not detected in the hair matrix or cuticle.
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).
CC {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
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DR EMBL; AC006070; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ406935; CAC27574.1; -; mRNA.
DR CCDS; CCDS42331.1; -.
DR RefSeq; NP_149443.1; NM_033187.1.
DR AlphaFoldDB; Q9BYR4; -.
DR STRING; 9606.ENSP00000375151; -.
DR BioMuta; KRTAP4-3; -.
DR DMDM; 158519999; -.
DR MassIVE; Q9BYR4; -.
DR PaxDb; Q9BYR4; -.
DR PeptideAtlas; Q9BYR4; -.
DR PRIDE; Q9BYR4; -.
DR ProteomicsDB; 79693; -.
DR Ensembl; ENST00000391356.4; ENSP00000375151.2; ENSG00000196156.5.
DR GeneID; 85290; -.
DR KEGG; hsa:85290; -.
DR MANE-Select; ENST00000391356.4; ENSP00000375151.2; NM_033187.2; NP_149443.1.
DR UCSC; uc010cxl.4; human.
DR CTD; 85290; -.
DR GeneCards; KRTAP4-3; -.
DR HGNC; HGNC:18908; KRTAP4-3.
DR HPA; ENSG00000196156; Tissue enriched (skin).
DR neXtProt; NX_Q9BYR4; -.
DR OpenTargets; ENSG00000196156; -.
DR PharmGKB; PA38756; -.
DR VEuPathDB; HostDB:ENSG00000196156; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000154448; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYR4; -.
DR OMA; NSCRNSC; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYR4; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 85290; 11 hits in 703 CRISPR screens.
DR GenomeRNAi; 85290; -.
DR Pharos; Q9BYR4; Tbio.
DR PRO; PR:Q9BYR4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYR4; protein.
DR Bgee; ENSG00000196156; Expressed in upper arm skin and 24 other tissues.
DR Genevisible; Q9BYR4; 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; 2.
DR Pfam; PF13885; Keratin_B2_2; 2.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..195
FT /note="Keratin-associated protein 4-3"
FT /id="PRO_0000185171"
FT REPEAT 34..38
FT /note="1"
FT REPEAT 39..43
FT /note="2"
FT REPEAT 44..48
FT /note="3"
FT REPEAT 49..53
FT /note="4"
FT REPEAT 54..58
FT /note="5"
FT REPEAT 59..63
FT /note="6"
FT REPEAT 64..68
FT /note="7"
FT REPEAT 69..73
FT /note="8"
FT REPEAT 74..78
FT /note="9"
FT REPEAT 79..83
FT /note="10"
FT REPEAT 84..88
FT /note="11"
FT REPEAT 89..93
FT /note="12"
FT REPEAT 94..98
FT /note="13"
FT REPEAT 99..103
FT /note="14"
FT REPEAT 104..108
FT /note="15"
FT REPEAT 109..113
FT /note="16"
FT REPEAT 114..118
FT /note="17"
FT REPEAT 119..123
FT /note="18"
FT REPEAT 124..128
FT /note="19"
FT REPEAT 129..133
FT /note="20"
FT REPEAT 134..138
FT /note="21"
FT REPEAT 144..148
FT /note="22"
FT REPEAT 149..153
FT /note="23"
FT REPEAT 154..158
FT /note="24"
FT REPEAT 159..163
FT /note="25"
FT REPEAT 164..168
FT /note="26"
FT REPEAT 179..183
FT /note="27"
FT REPEAT 189..193
FT /note="28"
FT REGION 34..193
FT /note="29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]-[STA]"
FT VARIANT 64
FT /note="C -> CCCLTTCCRTTCCRPSCCISSCCRPSCCISSCCKPS (in allele
FT KAP3-v1)"
FT /id="VAR_064557"
FT VARIANT 104..133
FT /note="Missing (in allele KAP3-v2)"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_064558"
FT VARIANT 122
FT /note="P -> S (in dbSNP:rs428371)"
FT /id="VAR_053457"
FT VARIANT 152
FT /note="P -> S (in dbSNP:rs428371)"
FT /id="VAR_053458"
SQ SEQUENCE 195 AA; 20504 MW; 0C6BF676B4F1B5A0 CRC64;
MVSSCCGSVC SDQSCGQGLG QESCCRPSCC QTTCCRTTCC RPSCCISSCC RPSCCISSCC
KPSCCRTTCC RPSCCISSCC RPSCCISSCC KPSCCRTTCC RPSCCISSCC RPSCCISSCC
KPSCCQTTCC RPSCCISSCY RPQCCQPSCC RPACCISSCC HPSCCVSSCR CPFSCPTTCC
RTTCFHPICC GSSCC
