KRA94_HUMAN
ID KRA94_HUMAN Reviewed; 154 AA.
AC Q9BYQ2; Q0VAE3;
DT 14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Keratin-associated protein 9-4;
DE AltName: Full=Keratin-associated protein 9.4;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 9.4;
GN Name=KRTAP9-4; Synonyms=KAP9.4, KRTAP9.4;
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 TYR-146.
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 VARIANT TYR-146.
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).
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 Q9BYQ2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-10185730, EBI-10173507;
CC Q9BYQ2; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-10185730, EBI-744545;
CC Q9BYQ2; Q02930-3: CREB5; NbExp=5; IntAct=EBI-10185730, EBI-10192698;
CC Q9BYQ2; Q6P158: DHX57; NbExp=3; IntAct=EBI-10185730, EBI-1051531;
CC Q9BYQ2; Q6P158-2: DHX57; NbExp=3; IntAct=EBI-10185730, EBI-10252144;
CC Q9BYQ2; Q92608: DOCK2; NbExp=3; IntAct=EBI-10185730, EBI-448771;
CC Q9BYQ2; Q969U6: FBXW5; NbExp=3; IntAct=EBI-10185730, EBI-741068;
CC Q9BYQ2; P49639: HOXA1; NbExp=3; IntAct=EBI-10185730, EBI-740785;
CC Q9BYQ2; P60370: KRTAP10-5; NbExp=5; IntAct=EBI-10185730, EBI-10172150;
CC Q9BYQ2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10185730, EBI-10171774;
CC Q9BYQ2; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-10185730, EBI-10172052;
CC Q9BYQ2; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-10185730, EBI-10172511;
CC Q9BYQ2; Q6L8G9: KRTAP5-6; NbExp=3; IntAct=EBI-10185730, EBI-10250562;
CC Q9BYQ2; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-10185730, EBI-3958099;
CC Q9BYQ2; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-10185730, EBI-1044640;
CC Q9BYQ2; Q5T7P3: LCE1B; NbExp=4; IntAct=EBI-10185730, EBI-10245913;
CC Q9BYQ2; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-10185730, EBI-10245291;
CC Q9BYQ2; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-10185730, EBI-10245456;
CC Q9BYQ2; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-10185730, EBI-10246358;
CC Q9BYQ2; O60336: MAPKBP1; NbExp=3; IntAct=EBI-10185730, EBI-947402;
CC Q9BYQ2; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10185730, EBI-945833;
CC Q9BYQ2; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10185730, EBI-741158;
CC Q9BYQ2; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-10185730, EBI-1210753;
CC Q9BYQ2; P32242: OTX1; NbExp=5; IntAct=EBI-10185730, EBI-740446;
CC Q9BYQ2; O43741: PRKAB2; NbExp=3; IntAct=EBI-10185730, EBI-1053424;
CC Q9BYQ2; Q04864: REL; NbExp=3; IntAct=EBI-10185730, EBI-307352;
CC Q9BYQ2; P49901: SMCP; NbExp=3; IntAct=EBI-10185730, EBI-750494;
CC Q9BYQ2; O43597: SPRY2; NbExp=3; IntAct=EBI-10185730, EBI-742487;
CC Q9BYQ2; Q9GZM5: YIPF3; NbExp=3; IntAct=EBI-10185730, EBI-743787;
CC -!- SIMILARITY: Belongs to the KRTAP type 9 family. {ECO:0000305}.
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DR EMBL; AJ406948; CAC27587.1; -; mRNA.
DR EMBL; AC006070; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC121094; AAI21095.1; -; mRNA.
DR CCDS; CCDS11386.1; -.
DR RefSeq; NP_149461.2; NM_033191.2.
DR AlphaFoldDB; Q9BYQ2; -.
DR BioGRID; 124444; 30.
DR IntAct; Q9BYQ2; 28.
DR STRING; 9606.ENSP00000334922; -.
DR BioMuta; KRTAP9-4; -.
DR DMDM; 296434558; -.
DR MassIVE; Q9BYQ2; -.
DR PaxDb; Q9BYQ2; -.
DR PeptideAtlas; Q9BYQ2; -.
DR PRIDE; Q9BYQ2; -.
DR DNASU; 85280; -.
DR Ensembl; ENST00000334109.3; ENSP00000334922.2; ENSG00000241595.2.
DR Ensembl; ENST00000570861.2; ENSP00000461634.1; ENSG00000262896.2.
DR Ensembl; ENST00000575341.2; ENSP00000461584.1; ENSG00000262512.2.
DR GeneID; 85280; -.
DR KEGG; hsa:85280; -.
DR MANE-Select; ENST00000334109.3; ENSP00000334922.2; NM_033191.3; NP_149461.2.
DR UCSC; uc002hwi.3; human.
DR CTD; 85280; -.
DR GeneCards; KRTAP9-4; -.
DR HGNC; HGNC:18902; KRTAP9-4.
DR HPA; ENSG00000241595; Tissue enriched (skin).
DR neXtProt; NX_Q9BYQ2; -.
DR OpenTargets; ENSG00000241595; -.
DR PharmGKB; PA38750; -.
DR VEuPathDB; HostDB:ENSG00000241595; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000156135; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYQ2; -.
DR OMA; CYQICCY; -.
DR PhylomeDB; Q9BYQ2; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYQ2; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q9BYQ2; -.
DR BioGRID-ORCS; 85280; 382 hits in 985 CRISPR screens.
DR GenomeRNAi; 85280; -.
DR Pharos; Q9BYQ2; Tdark.
DR PRO; PR:Q9BYQ2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYQ2; protein.
DR Bgee; ENSG00000241595; Expressed in skin of abdomen and 15 other tissues.
DR Genevisible; Q9BYQ2; 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; 2.
DR Pfam; PF13885; Keratin_B2_2; 3.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..154
FT /note="Keratin-associated protein 9-4"
FT /id="PRO_0000185190"
FT REPEAT 8..12
FT /note="1"
FT REPEAT 13..17
FT /note="2"
FT REPEAT 18..22
FT /note="3"
FT REPEAT 37..41
FT /note="4"
FT REPEAT 42..46
FT /note="5"
FT REPEAT 51..55
FT /note="6"
FT REPEAT 56..60
FT /note="7"
FT REPEAT 61..65
FT /note="8"
FT REPEAT 70..74
FT /note="9"
FT REPEAT 75..79
FT /note="10"
FT REPEAT 80..84
FT /note="11"
FT REPEAT 85..89
FT /note="12"
FT REPEAT 129..133
FT /note="13"
FT REPEAT 134..138
FT /note="14"
FT REPEAT 148..152
FT /note="15"
FT REGION 8..152
FT /note="15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]-[TASPF]"
FT VARIANT 146
FT /note="S -> Y (in dbSNP:rs2191379)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_060242"
SQ SEQUENCE 154 AA; 16378 MW; 260D862E16165105 CRC64;
MTHCCSPCCQ PTCCRTTCCR TTCWKPTTVT TCSSTPCCQP SCCVSSCCQP CCRPTCCQNT
CCQPTCVTSC CQPSCCSTPC CQPTCCGSSC DQSSSCAPVY CRRTCYYPTT VCLPGCLNQS
CGSNCCQPCC RPACCETTCF QPTCVSSCCQ PFCC
