KRA44_HUMAN
ID KRA44_HUMAN Reviewed; 166 AA.
AC Q9BYR3; Q9BYU7;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Keratin-associated protein 4-4;
DE AltName: Full=Keratin-associated protein 4-13;
DE AltName: Full=Keratin-associated protein 4.13;
DE AltName: Full=Keratin-associated protein 4.4;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.13;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.4;
GN Name=KRTAP4-4; Synonyms=KAP4.13, KAP4.4, KRTAP4-13, KRTAP4.13, KRTAP4.4;
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 VARIANT 40-CYS--THR-99 DEL.
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 VARIANTS 40-CYS--PRO-99 DEL AND
RP 40-CYS--THR-104 DEL.
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 Q9BYR3; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11958132, EBI-10173507;
CC Q9BYR3; Q15699: ALX1; NbExp=3; IntAct=EBI-11958132, EBI-750671;
CC Q9BYR3; P29972: AQP1; NbExp=3; IntAct=EBI-11958132, EBI-745213;
CC Q9BYR3; O95429: BAG4; NbExp=3; IntAct=EBI-11958132, EBI-2949658;
CC Q9BYR3; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-11958132, EBI-744545;
CC Q9BYR3; Q14781-2: CBX2; NbExp=3; IntAct=EBI-11958132, EBI-11974585;
CC Q9BYR3; Q9UGL9: CRCT1; NbExp=5; IntAct=EBI-11958132, EBI-713677;
CC Q9BYR3; Q02930-3: CREB5; NbExp=3; IntAct=EBI-11958132, EBI-10192698;
CC Q9BYR3; A8MQ03: CYSRT1; NbExp=4; IntAct=EBI-11958132, EBI-3867333;
CC Q9BYR3; O76003: GLRX3; NbExp=3; IntAct=EBI-11958132, EBI-374781;
CC Q9BYR3; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-11958132, EBI-11975289;
CC Q9BYR3; Q9UBP5: HEY2; NbExp=3; IntAct=EBI-11958132, EBI-750630;
CC Q9BYR3; P49639: HOXA1; NbExp=5; IntAct=EBI-11958132, EBI-740785;
CC Q9BYR3; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11958132, EBI-11749135;
CC Q9BYR3; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-11958132, EBI-11741292;
CC Q9BYR3; P60014: KRTAP10-10; NbExp=3; IntAct=EBI-11958132, EBI-11955579;
CC Q9BYR3; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-11958132, EBI-10172150;
CC Q9BYR3; P60371: KRTAP10-6; NbExp=3; IntAct=EBI-11958132, EBI-12012928;
CC Q9BYR3; P60410: KRTAP10-8; NbExp=4; IntAct=EBI-11958132, EBI-10171774;
CC Q9BYR3; P59990: KRTAP12-1; NbExp=3; IntAct=EBI-11958132, EBI-10210845;
CC Q9BYR3; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-11958132, EBI-11953334;
CC Q9BYR3; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-11958132, EBI-11953846;
CC Q9BYR3; Q9BYP8: KRTAP17-1; NbExp=3; IntAct=EBI-11958132, EBI-11988175;
CC Q9BYR3; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11958132, EBI-14065470;
CC Q9BYR3; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-11958132, EBI-3957672;
CC Q9BYR3; Q9BYR7: KRTAP3-2; NbExp=3; IntAct=EBI-11958132, EBI-751260;
CC Q9BYR3; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11958132, EBI-10172511;
CC Q9BYR3; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-11958132, EBI-11993254;
CC Q9BYR3; Q6L8G4: KRTAP5-11; NbExp=3; IntAct=EBI-11958132, EBI-11993296;
CC Q9BYR3; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-11958132, EBI-11987425;
CC Q9BYR3; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-11958132, EBI-3958099;
CC Q9BYR3; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-11958132, EBI-1044640;
CC Q9BYR3; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11958132, EBI-1043191;
CC Q9BYR3; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-11958132, EBI-11958364;
CC Q9BYR3; Q5T7P2: LCE1A; NbExp=6; IntAct=EBI-11958132, EBI-11962058;
CC Q9BYR3; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11958132, EBI-10245913;
CC Q9BYR3; Q5T751: LCE1C; NbExp=3; IntAct=EBI-11958132, EBI-12224199;
CC Q9BYR3; Q5T752: LCE1D; NbExp=3; IntAct=EBI-11958132, EBI-11741311;
CC Q9BYR3; Q5T753: LCE1E; NbExp=3; IntAct=EBI-11958132, EBI-11955335;
CC Q9BYR3; Q5T754: LCE1F; NbExp=6; IntAct=EBI-11958132, EBI-11958008;
CC Q9BYR3; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-11958132, EBI-10246607;
CC Q9BYR3; O14633: LCE2B; NbExp=6; IntAct=EBI-11958132, EBI-11478468;
CC Q9BYR3; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-11958132, EBI-11973993;
CC Q9BYR3; Q5TA76: LCE3A; NbExp=5; IntAct=EBI-11958132, EBI-9394625;
CC Q9BYR3; Q5TA77: LCE3B; NbExp=3; IntAct=EBI-11958132, EBI-11974495;
CC Q9BYR3; Q5T5A8: LCE3C; NbExp=8; IntAct=EBI-11958132, EBI-10245291;
CC Q9BYR3; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-11958132, EBI-10245456;
CC Q9BYR3; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-11958132, EBI-10246358;
CC Q9BYR3; Q5TCM9: LCE5A; NbExp=6; IntAct=EBI-11958132, EBI-11955689;
CC Q9BYR3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11958132, EBI-16439278;
CC Q9BYR3; P0DPK4: NOTCH2NLC; NbExp=4; IntAct=EBI-11958132, EBI-22310682;
CC Q9BYR3; Q9NQX5: NPDC1; NbExp=3; IntAct=EBI-11958132, EBI-748927;
CC Q9BYR3; Q92570: NR4A3; NbExp=3; IntAct=EBI-11958132, EBI-13644623;
CC Q9BYR3; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-11958132, EBI-1210753;
CC Q9BYR3; P32242: OTX1; NbExp=3; IntAct=EBI-11958132, EBI-740446;
CC Q9BYR3; Q12837: POU4F2; NbExp=3; IntAct=EBI-11958132, EBI-17236143;
CC Q9BYR3; Q9NUL5-4: SHFL; NbExp=3; IntAct=EBI-11958132, EBI-11955083;
CC Q9BYR3; P49901: SMCP; NbExp=6; IntAct=EBI-11958132, EBI-750494;
CC Q9BYR3; Q63HR2: TNS2; NbExp=3; IntAct=EBI-11958132, EBI-949753;
CC Q9BYR3; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11958132, EBI-5235829;
CC Q9BYR3; Q8IYI8: ZNF440; NbExp=3; IntAct=EBI-11958132, EBI-726439;
CC Q9BYR3; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-11958132, EBI-10486136;
CC Q9BYR3; Q96H86: ZNF764; NbExp=3; IntAct=EBI-11958132, EBI-745775;
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; AJ296168; CAC27563.1; -; mRNA.
DR EMBL; AJ406936; CAC27575.1; -; mRNA.
DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS11383.1; -.
DR RefSeq; NP_115913.1; NM_032524.1.
DR AlphaFoldDB; Q9BYR3; -.
DR BioGRID; 124147; 67.
DR IntAct; Q9BYR3; 63.
DR BioMuta; KRTAP4-4; -.
DR DMDM; 37999767; -.
DR MassIVE; Q9BYR3; -.
DR PaxDb; Q9BYR3; -.
DR PeptideAtlas; Q9BYR3; -.
DR PRIDE; Q9BYR3; -.
DR ProteomicsDB; 79692; -.
DR Antibodypedia; 76830; 2 antibodies from 2 providers.
DR DNASU; 84616; -.
DR Ensembl; ENST00000390661.5; ENSP00000375076.3; ENSG00000171396.12.
DR GeneID; 84616; -.
DR KEGG; hsa:84616; -.
DR MANE-Select; ENST00000390661.5; ENSP00000375076.3; NM_032524.2; NP_115913.1.
DR UCSC; uc002hwc.4; human.
DR CTD; 84616; -.
DR GeneCards; KRTAP4-4; -.
DR HGNC; HGNC:16928; KRTAP4-4.
DR HPA; ENSG00000171396; Tissue enriched (skin).
DR neXtProt; NX_Q9BYR3; -.
DR OpenTargets; ENSG00000171396; -.
DR PharmGKB; PA38426; -.
DR VEuPathDB; HostDB:ENSG00000171396; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163975; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYR3; -.
DR OMA; CCRFKAP; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYR3; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q9BYR3; -.
DR BioGRID-ORCS; 84616; 39 hits in 1045 CRISPR screens.
DR GenomeRNAi; 84616; -.
DR Pharos; Q9BYR3; Tdark.
DR PRO; PR:Q9BYR3; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYR3; protein.
DR Bgee; ENSG00000171396; Expressed in upper arm skin and 24 other tissues.
DR Genevisible; Q9BYR3; 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 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..166
FT /note="Keratin-associated protein 4-4"
FT /id="PRO_0000185172"
FT REPEAT 5..9
FT /note="1"
FT REPEAT 20..24
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..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 130..134
FT /note="22"
FT REPEAT 135..139
FT /note="23"
FT REPEAT 140..144
FT /note="24"
FT REPEAT 145..149
FT /note="25"
FT REPEAT 150..154
FT /note="26"
FT REGION 5..154
FT /note="26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]-[VSTQR]"
FT VARIANT 25
FT /note="Y -> C (in dbSNP:rs385055)"
FT /id="VAR_053459"
FT VARIANT 35
FT /note="C -> S (in dbSNP:rs444509)"
FT /id="VAR_053460"
FT VARIANT 40..104
FT /note="Missing (in allele KAP4.4-v1)"
FT /id="VAR_064559"
FT VARIANT 40..99
FT /note="Missing (in allele KAP4.13)"
FT /evidence="ECO:0000269|PubMed:11279113"
FT /id="VAR_032772"
FT VARIANT 154
FT /note="R -> S (in dbSNP:rs366700)"
FT /id="VAR_053461"
FT CONFLICT 140
FT /note="C -> R (in Ref. 1; CAC27563)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 166 AA; 18023 MW; C373D121611A7115 CRC64;
MVNSCCGSVC SDQGCGLENC CRPSYCQTTC CRTTCCRPSC CVSSCCRPQC CQTTCCRTTC
CHPSCCVSSC CRPQCCQSVC CQPTCCRPQC CQTTCCRTTC CRPSCCRPQC CQSVCCQPTC
CCPSYCVSSC CRPQCCQTTC CRTTCCRPSC CVSRCYRPHC GQSLCC
