KRA45_HUMAN
ID KRA45_HUMAN Reviewed; 181 AA.
AC Q9BYR2;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2012, sequence version 4.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Keratin-associated protein 4-5;
DE AltName: Full=Keratin-associated protein 4.5;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.5;
GN Name=KRTAP4-5; Synonyms=KAP4.5, KRTAP4.5;
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 CYS-22; CYS-CYS-ARG-PRO-SER-80 INS
RP AND TYR-125.
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 TISSUE SPECIFICITY, POLYMORPHISM, AND VARIANT HIS-67.
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 Q9BYR2; Q9Y2T1: AXIN2; NbExp=3; IntAct=EBI-11993254, EBI-4400025;
CC Q9BYR2; O95429: BAG4; NbExp=3; IntAct=EBI-11993254, EBI-2949658;
CC Q9BYR2; Q9UGL9: CRCT1; NbExp=4; IntAct=EBI-11993254, EBI-713677;
CC Q9BYR2; Q02930-3: CREB5; NbExp=3; IntAct=EBI-11993254, EBI-10192698;
CC Q9BYR2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11993254, EBI-3867333;
CC Q9BYR2; Q5HYJ3-3: FAM76B; NbExp=3; IntAct=EBI-11993254, EBI-11956087;
CC Q9BYR2; Q9NWN3: FBXO34; NbExp=5; IntAct=EBI-11993254, EBI-719816;
CC Q9BYR2; P15976-2: GATA1; NbExp=3; IntAct=EBI-11993254, EBI-9090198;
CC Q9BYR2; O76003: GLRX3; NbExp=5; IntAct=EBI-11993254, EBI-374781;
CC Q9BYR2; P49639: HOXA1; NbExp=7; IntAct=EBI-11993254, EBI-740785;
CC Q9BYR2; Q5T749: KPRP; NbExp=5; IntAct=EBI-11993254, EBI-10981970;
CC Q9BYR2; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11993254, EBI-11959885;
CC Q9BYR2; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11993254, EBI-11749135;
CC Q9BYR2; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-11993254, EBI-12012928;
CC Q9BYR2; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-11993254, EBI-10172290;
CC Q9BYR2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-11993254, EBI-10171774;
CC Q9BYR2; P59990: KRTAP12-1; NbExp=3; IntAct=EBI-11993254, EBI-10210845;
CC Q9BYR2; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-11993254, EBI-11953846;
CC Q9BYR2; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11993254, EBI-10172511;
CC Q9BYR2; Q9BYR3: KRTAP4-4; NbExp=3; IntAct=EBI-11993254, EBI-11958132;
CC Q9BYR2; Q701N4: KRTAP5-2; NbExp=3; IntAct=EBI-11993254, EBI-11958178;
CC Q9BYR2; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-11993254, EBI-3958099;
CC Q9BYR2; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-11993254, EBI-12111050;
CC Q9BYR2; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11993254, EBI-1043191;
CC Q9BYR2; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-11993254, EBI-11962058;
CC Q9BYR2; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11993254, EBI-10245913;
CC Q9BYR2; Q5T751: LCE1C; NbExp=5; IntAct=EBI-11993254, EBI-12224199;
CC Q9BYR2; Q5T752: LCE1D; NbExp=3; IntAct=EBI-11993254, EBI-11741311;
CC Q9BYR2; Q5T753: LCE1E; NbExp=3; IntAct=EBI-11993254, EBI-11955335;
CC Q9BYR2; Q5T754: LCE1F; NbExp=3; IntAct=EBI-11993254, EBI-11958008;
CC Q9BYR2; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-11993254, EBI-10246607;
CC Q9BYR2; O14633: LCE2B; NbExp=3; IntAct=EBI-11993254, EBI-11478468;
CC Q9BYR2; Q5TA81: LCE2C; NbExp=4; IntAct=EBI-11993254, EBI-11973993;
CC Q9BYR2; Q5TA76: LCE3A; NbExp=5; IntAct=EBI-11993254, EBI-9394625;
CC Q9BYR2; Q5TA77: LCE3B; NbExp=3; IntAct=EBI-11993254, EBI-11974495;
CC Q9BYR2; Q5T5A8: LCE3C; NbExp=8; IntAct=EBI-11993254, EBI-10245291;
CC Q9BYR2; Q9BYE3: LCE3D; NbExp=5; IntAct=EBI-11993254, EBI-6658837;
CC Q9BYR2; Q5T5B0: LCE3E; NbExp=5; IntAct=EBI-11993254, EBI-10245456;
CC Q9BYR2; Q5TA78: LCE4A; NbExp=5; IntAct=EBI-11993254, EBI-10246358;
CC Q9BYR2; Q5TCM9: LCE5A; NbExp=3; IntAct=EBI-11993254, EBI-11955689;
CC Q9BYR2; Q5T871: LELP1; NbExp=3; IntAct=EBI-11993254, EBI-18115868;
CC Q9BYR2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11993254, EBI-16439278;
CC Q9BYR2; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11993254, EBI-22310682;
CC Q9BYR2; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-11993254, EBI-1210753;
CC Q9BYR2; P32242: OTX1; NbExp=3; IntAct=EBI-11993254, EBI-740446;
CC Q9BYR2; Q5VY43: PEAR1; NbExp=3; IntAct=EBI-11993254, EBI-1249608;
CC Q9BYR2; A0JP26: POTEB3; NbExp=3; IntAct=EBI-11993254, EBI-18165900;
CC Q9BYR2; Q12837: POU4F2; NbExp=3; IntAct=EBI-11993254, EBI-17236143;
CC Q9BYR2; O43741: PRKAB2; NbExp=3; IntAct=EBI-11993254, EBI-1053424;
CC Q9BYR2; Q92753-1: RORB; NbExp=3; IntAct=EBI-11993254, EBI-18560266;
CC Q9BYR2; Q9NR46: SH3GLB2; NbExp=3; IntAct=EBI-11993254, EBI-749607;
CC Q9BYR2; Q9NUL5-4: SHFL; NbExp=3; IntAct=EBI-11993254, EBI-11955083;
CC Q9BYR2; Q9Y6M7: SLC4A7; NbExp=3; IntAct=EBI-11993254, EBI-1044546;
CC Q9BYR2; P49901: SMCP; NbExp=5; IntAct=EBI-11993254, EBI-750494;
CC Q9BYR2; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11993254, EBI-5235829;
CC Q9BYR2; O14817: TSPAN4; NbExp=3; IntAct=EBI-11993254, EBI-8652667;
CC Q9BYR2; P25490: YY1; NbExp=3; IntAct=EBI-11993254, EBI-765538;
CC Q9BYR2; Q9H707: ZNF552; NbExp=6; IntAct=EBI-11993254, EBI-2555731;
CC Q9BYR2; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-11993254, EBI-10251462;
CC Q9BYR2; Q9Y2P0: ZNF835; NbExp=3; IntAct=EBI-11993254, EBI-5667516;
CC Q9BYR2; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-11993254, EBI-11962574;
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 KAP4.5-v1 (PubMed:15955084). {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ406937; CAC27576.1; -; mRNA.
DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32650.1; -.
DR RefSeq; NP_149445.3; NM_033188.3.
DR AlphaFoldDB; Q9BYR2; -.
DR BioGRID; 124453; 62.
DR IntAct; Q9BYR2; 61.
DR STRING; 9606.ENSP00000340546; -.
DR BioMuta; KRTAP4-5; -.
DR DMDM; 380865482; -.
DR MassIVE; Q9BYR2; -.
DR PaxDb; Q9BYR2; -.
DR PeptideAtlas; Q9BYR2; -.
DR PRIDE; Q9BYR2; -.
DR Antibodypedia; 78096; 1 antibodies from 1 providers.
DR DNASU; 85289; -.
DR Ensembl; ENST00000343246.6; ENSP00000340546.4; ENSG00000198271.5.
DR GeneID; 85289; -.
DR KEGG; hsa:85289; -.
DR MANE-Select; ENST00000343246.6; ENSP00000340546.4; NM_033188.4; NP_149445.3.
DR UCSC; uc060fat.1; human.
DR CTD; 85289; -.
DR GeneCards; KRTAP4-5; -.
DR HGNC; HGNC:18899; KRTAP4-5.
DR HPA; ENSG00000198271; Tissue enriched (skin).
DR neXtProt; NX_Q9BYR2; -.
DR OpenTargets; ENSG00000198271; -.
DR PharmGKB; PA38748; -.
DR VEuPathDB; HostDB:ENSG00000198271; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000165435; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYR2; -.
DR OMA; MSCRSMY; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYR2; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q9BYR2; -.
DR BioGRID-ORCS; 85289; 20 hits in 993 CRISPR screens.
DR GenomeRNAi; 85289; -.
DR Pharos; Q9BYR2; Tbio.
DR PRO; PR:Q9BYR2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYR2; protein.
DR Bgee; ENSG00000198271; Expressed in upper arm skin and 25 other tissues.
DR Genevisible; Q9BYR2; 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; 2.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..181
FT /note="Keratin-associated protein 4-5"
FT /id="PRO_0000185173"
FT REPEAT 5..9
FT /note="1"
FT REPEAT 20..24
FT /note="2"
FT REPEAT 25..29
FT /note="3"
FT REPEAT 30..34
FT /note="4"
FT REPEAT 35..39
FT /note="5"
FT REPEAT 40..44
FT /note="6"
FT REPEAT 45..49
FT /note="7"
FT REPEAT 55..59
FT /note="8"
FT REPEAT 60..64
FT /note="9"
FT REPEAT 65..69
FT /note="10"
FT REPEAT 70..74
FT /note="11"
FT REPEAT 75..79
FT /note="12"
FT REPEAT 80..84
FT /note="13"
FT REPEAT 85..89
FT /note="14"
FT REPEAT 90..94
FT /note="15"
FT REPEAT 95..99
FT /note="16"
FT REPEAT 100..104
FT /note="17"
FT REPEAT 105..109
FT /note="18"
FT REPEAT 110..114
FT /note="19"
FT REPEAT 115..119
FT /note="20"
FT REPEAT 120..124
FT /note="21"
FT REPEAT 125..129
FT /note="22"
FT REPEAT 130..134
FT /note="23"
FT REPEAT 135..139
FT /note="24"
FT REPEAT 140..144
FT /note="25"
FT REPEAT 145..149
FT /note="26"
FT REGION 5..154
FT /note="26 X 5 AA repeats of C-C-[GRQVCHIEK]-[SPTR]-
FT [VSTQYC]"
FT VARIANT 6
FT /note="C -> R (in dbSNP:rs238829)"
FT /id="VAR_057648"
FT VARIANT 22
FT /note="R -> C (in dbSNP:rs1497383)"
FT /evidence="ECO:0000269|PubMed:11279113"
FT /id="VAR_064560"
FT VARIANT 67
FT /note="R -> H (in dbSNP:rs238830)"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_064561"
FT VARIANT 80
FT /note="C -> CCCRPS"
FT /id="VAR_063826"
FT VARIANT 125
FT /note="C -> Y (in dbSNP:rs1846044)"
FT /evidence="ECO:0000269|PubMed:11279113"
FT /id="VAR_064562"
SQ SEQUENCE 181 AA; 19363 MW; 95D9CC0125D0549A CRC64;
MVSSCCGSVS SEQSCGLENC CRPSCCQTTC CRTTCCRPSC CKPQCCQSVC YQPTCCHPSC
CISSCCRPYC CESSCCRPCC CQTTCCRTTC CRTTCCCPSC CVSSCCRPQC CQSVCCQPTC
CRPSCCISSC CHPSCCESSC CRPCCCVRPV CGRVSCHTTC YRPTCVISTC PRPLCCASSC
C
