KRA47_HUMAN
ID KRA47_HUMAN Reviewed; 210 AA.
AC Q9BYR0; A0AVM6; A8MQ08; A8MTL4;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Keratin-associated protein 4-7;
DE AltName: Full=Keratin-associated protein 4.7;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.7;
GN Name=KRTAP4-7; Synonyms=KAP4.7, KRTAP4.7;
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], AND VARIANTS GLY-16; VAL-18; SER-68 AND
RP CYS-168.
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS GLY-16; VAL-18; SER-68
RP AND CYS-168.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY, POLYMORPHISM, VARIANTS 111-HIS--CYS-165 DEL AND
RP 144-CYS--CYS-165 DEL, AND VARIANTS GLY-16; VAL-18 AND SER-68.
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 -!- INTERACTION:
CC Q9BYR0; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-10302547, EBI-744545;
CC Q9BYR0; Q5HYJ3: FAM76B; NbExp=3; IntAct=EBI-10302547, EBI-751192;
CC Q9BYR0; O76003: GLRX3; NbExp=3; IntAct=EBI-10302547, EBI-374781;
CC Q9BYR0; P49639: HOXA1; NbExp=3; IntAct=EBI-10302547, EBI-740785;
CC Q9BYR0; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10302547, EBI-10171774;
CC Q9BYR0; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-10302547, EBI-3957672;
CC Q9BYR0; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-10302547, EBI-1044640;
CC Q9BYR0; P50222: MEOX2; NbExp=3; IntAct=EBI-10302547, EBI-748397;
CC Q9BYR0; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10302547, EBI-945833;
CC Q9BYR0; P32242: OTX1; NbExp=3; IntAct=EBI-10302547, EBI-740446;
CC Q9BYR0; P49901: SMCP; NbExp=3; IntAct=EBI-10302547, EBI-750494;
CC Q9BYR0; O43597: SPRY2; NbExp=3; IntAct=EBI-10302547, EBI-742487;
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).
CC {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
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DR EMBL; AJ406939; CAC27578.1; -; mRNA.
DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126421; AAI26422.1; -; mRNA.
DR EMBL; BC126423; AAI26424.1; -; mRNA.
DR RefSeq; XP_003846526.1; XM_003846478.1.
DR AlphaFoldDB; Q9BYR0; -.
DR IntAct; Q9BYR0; 12.
DR BioMuta; KRTAP4-7; -.
DR DMDM; 322510047; -.
DR MassIVE; Q9BYR0; -.
DR PeptideAtlas; Q9BYR0; -.
DR PRIDE; Q9BYR0; -.
DR Ensembl; ENST00000391417.5; ENSP00000375236.4; ENSG00000240871.6.
DR UCSC; uc010wfn.3; human.
DR GeneCards; KRTAP4-7; -.
DR HGNC; HGNC:18898; KRTAP4-7.
DR HPA; ENSG00000240871; Tissue enriched (skin).
DR neXtProt; NX_Q9BYR0; -.
DR PharmGKB; PA38747; -.
DR VEuPathDB; HostDB:ENSG00000240871; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYR0; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYR0; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q9BYR0; -.
DR BioGRID-ORCS; 100996750; 0 hits in 4 CRISPR screens.
DR Pharos; Q9BYR0; Tbio.
DR PRO; PR:Q9BYR0; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYR0; protein.
DR Bgee; ENSG00000240871; Expressed in skin of abdomen and 23 other tissues.
DR ExpressionAtlas; Q9BYR0; baseline and differential.
DR Genevisible; Q9BYR0; 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; 5.
DR Pfam; PF13885; Keratin_B2_2; 2.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..210
FT /note="Keratin-associated protein 4-7"
FT /id="PRO_0000185174"
FT REPEAT 5..9
FT /note="1"
FT REPEAT 24..28
FT /note="2"
FT REPEAT 29..33
FT /note="3"
FT REPEAT 34..38
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 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 REPEAT 174..178
FT /note="31"
FT REGION 5..178
FT /note="31 X 5 AA repeats of C-C-[GIKRQVHEML]-[SPTRV]-
FT [STVQRCP]"
FT VARIANT 16
FT /note="S -> G (in dbSNP:rs11655310)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084"
FT /id="VAR_064459"
FT VARIANT 18
FT /note="D -> V (in dbSNP:rs383835)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084"
FT /id="VAR_064460"
FT VARIANT 68
FT /note="T -> S (in dbSNP:rs11650484)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084"
FT /id="VAR_064461"
FT VARIANT 111..165
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_064462"
FT VARIANT 144..165
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_064463"
FT VARIANT 168
FT /note="S -> C"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_064464"
SQ SEQUENCE 210 AA; 22535 MW; E203C21460E4C785 CRC64;
MVSSCCGSVC SDQGCSQDLC QETCCRPSCC QTTCCRTTCY RPSCCVSSCC RPQCCQSVCC
QPTCCRPTCC ETTCCHPRCC ISSCCRPSCC MSSCCKPQCC QSVCCQPTCC HPSCCISSCC
RPSCCVSRCC RPQCCQSVCC QPTCCRPSCC ISSCCRPSCC ESSCCRPSCC RPCCCLRPVC
GRVSCHTTCY RPTCVISTCP RPLCCASSCC
