KRA53_HUMAN
ID KRA53_HUMAN Reviewed; 238 AA.
AC Q6L8H2; Q6PL44; Q701N3;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 116.
DE RecName: Full=Keratin-associated protein 5-3;
DE AltName: Full=Keratin-associated protein 5-9;
DE AltName: Full=Keratin-associated protein 5.3;
DE AltName: Full=Keratin-associated protein 5.9;
DE AltName: Full=UHS KerB-like;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 5.3;
GN Name=KRTAP5-3; Synonyms=KAP5-9, KAP5.3, KRTAP5-9, KRTAP5.3, KRTAP5.9;
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 TISSUE SPECIFICITY.
RC TISSUE=Hair root;
RX PubMed=15144888; DOI=10.1016/j.bbrc.2004.04.074;
RA Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J.,
RA Shimizu N.;
RT "Identification of two novel clusters of ultrahigh-sulfur keratin-
RT associated protein genes on human chromosome 11.";
RL Biochem. Biophys. Res. Commun. 318:655-664(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 72-238.
RC TISSUE=Scalp;
RA Rogers M.A., Langbein L., Winter H., Praetzel S., Schweizer J.;
RT "Characterization of two domains of keratin associated protein (KAP) family
RT members on human chromosome 11.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Li H., Zhong G., Zhou G., Shen C., Ke R., Lin L., Yang S.;
RL Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated protein (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 Q6L8H2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11974251, EBI-10173507;
CC Q6L8H2; Q8NEC5: CATSPER1; NbExp=6; IntAct=EBI-11974251, EBI-744545;
CC Q6L8H2; Q9UGL9: CRCT1; NbExp=3; IntAct=EBI-11974251, EBI-713677;
CC Q6L8H2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11974251, EBI-3867333;
CC Q6L8H2; Q16610: ECM1; NbExp=3; IntAct=EBI-11974251, EBI-947964;
CC Q6L8H2; Q9NWN3: FBXO34; NbExp=3; IntAct=EBI-11974251, EBI-719816;
CC Q6L8H2; Q9BTY2: FUCA2; NbExp=3; IntAct=EBI-11974251, EBI-9050116;
CC Q6L8H2; O76003: GLRX3; NbExp=7; IntAct=EBI-11974251, EBI-374781;
CC Q6L8H2; P49639: HOXA1; NbExp=5; IntAct=EBI-11974251, EBI-740785;
CC Q6L8H2; Q5T749: KPRP; NbExp=3; IntAct=EBI-11974251, EBI-10981970;
CC Q6L8H2; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11974251, EBI-11749135;
CC Q6L8H2; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-11974251, EBI-11741292;
CC Q6L8H2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-11974251, EBI-10171774;
CC Q6L8H2; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-11974251, EBI-1052037;
CC Q6L8H2; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-11974251, EBI-11992140;
CC Q6L8H2; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11974251, EBI-10172511;
CC Q6L8H2; Q6L8H4: KRTAP5-1; NbExp=3; IntAct=EBI-11974251, EBI-12074540;
CC Q6L8H2; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-11974251, EBI-3958099;
CC Q6L8H2; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-11974251, EBI-1044640;
CC Q6L8H2; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11974251, EBI-1043191;
CC Q6L8H2; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-11974251, EBI-11962058;
CC Q6L8H2; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-11974251, EBI-10245913;
CC Q6L8H2; Q5T751: LCE1C; NbExp=3; IntAct=EBI-11974251, EBI-12224199;
CC Q6L8H2; Q5T752: LCE1D; NbExp=3; IntAct=EBI-11974251, EBI-11741311;
CC Q6L8H2; Q5T754: LCE1F; NbExp=3; IntAct=EBI-11974251, EBI-11958008;
CC Q6L8H2; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-11974251, EBI-11973993;
CC Q6L8H2; Q5TA76: LCE3A; NbExp=3; IntAct=EBI-11974251, EBI-9394625;
CC Q6L8H2; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-11974251, EBI-10245291;
CC Q6L8H2; Q9BYE3: LCE3D; NbExp=5; IntAct=EBI-11974251, EBI-6658837;
CC Q6L8H2; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-11974251, EBI-10245456;
CC Q6L8H2; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-11974251, EBI-10246358;
CC Q6L8H2; Q5TCM9: LCE5A; NbExp=4; IntAct=EBI-11974251, EBI-11955689;
CC Q6L8H2; Q5T871: LELP1; NbExp=3; IntAct=EBI-11974251, EBI-18115868;
CC Q6L8H2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11974251, EBI-16439278;
CC Q6L8H2; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11974251, EBI-22310682;
CC Q6L8H2; Q92570: NR4A3; NbExp=3; IntAct=EBI-11974251, EBI-13644623;
CC Q6L8H2; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-11974251, EBI-1210753;
CC Q6L8H2; P32242: OTX1; NbExp=3; IntAct=EBI-11974251, EBI-740446;
CC Q6L8H2; Q12837: POU4F2; NbExp=3; IntAct=EBI-11974251, EBI-17236143;
CC Q6L8H2; O60896: RAMP3; NbExp=3; IntAct=EBI-11974251, EBI-720447;
CC Q6L8H2; Q9UGC6: RGS17; NbExp=3; IntAct=EBI-11974251, EBI-3918154;
CC Q6L8H2; P49901: SMCP; NbExp=5; IntAct=EBI-11974251, EBI-750494;
CC -!- TISSUE SPECIFICITY: Restricted to hair root, not detected in any other
CC tissues. {ECO:0000269|PubMed:15144888}.
CC -!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
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DR EMBL; AB126072; BAD20199.1; -; mRNA.
DR EMBL; AJ628246; CAF31638.1; -; mRNA.
DR EMBL; AY597812; AAT09005.1; -; mRNA.
DR CCDS; CCDS41591.1; -.
DR RefSeq; NP_001012726.1; NM_001012708.2.
DR AlphaFoldDB; Q6L8H2; -.
DR BioGRID; 132267; 43.
DR IntAct; Q6L8H2; 42.
DR DrugBank; DB02379; Beta-D-Glucose.
DR iPTMnet; Q6L8H2; -.
DR PhosphoSitePlus; Q6L8H2; -.
DR BioMuta; KRTAP5-3; -.
DR PaxDb; Q6L8H2; -.
DR PeptideAtlas; Q6L8H2; -.
DR PRIDE; Q6L8H2; -.
DR ProteomicsDB; 66553; -.
DR DNASU; 387266; -.
DR Ensembl; ENST00000399685.1; ENSP00000382592.1; ENSG00000196224.7.
DR Ensembl; ENST00000620564.1; ENSP00000478585.1; ENSG00000275920.1.
DR Ensembl; ENST00000627584.1; ENSP00000487561.1; ENSG00000281191.2.
DR GeneID; 387266; -.
DR KEGG; hsa:387266; -.
DR MANE-Select; ENST00000399685.1; ENSP00000382592.1; NM_001012708.2; NP_001012726.1.
DR UCSC; uc001ltw.1; human.
DR CTD; 387266; -.
DR DisGeNET; 387266; -.
DR GeneCards; KRTAP5-3; -.
DR HGNC; HGNC:23598; KRTAP5-3.
DR HPA; ENSG00000196224; Tissue enriched (skin).
DR neXtProt; NX_Q6L8H2; -.
DR OpenTargets; ENSG00000196224; -.
DR PharmGKB; PA134865306; -.
DR VEuPathDB; HostDB:ENSG00000196224; -.
DR GeneTree; ENSGT01050000245245; -.
DR HOGENOM; CLU_097966_0_0_1; -.
DR OMA; CCKDAPC; -.
DR PathwayCommons; Q6L8H2; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q6L8H2; -.
DR BioGRID-ORCS; 387266; 100 hits in 998 CRISPR screens.
DR GenomeRNAi; 387266; -.
DR Pharos; Q6L8H2; Tdark.
DR PRO; PR:Q6L8H2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6L8H2; protein.
DR Bgee; ENSG00000196224; Expressed in cortical plate and 14 other tissues.
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; 4.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..238
FT /note="Keratin-associated protein 5-3"
FT /id="PRO_0000184101"
FT REPEAT 35..38
FT /note="1"
FT REPEAT 41..44
FT /note="2"
FT REPEAT 47..50
FT /note="3"
FT REPEAT 91..94
FT /note="4"
FT REPEAT 150..153
FT /note="5"
FT REPEAT 160..163
FT /note="6"
FT REPEAT 170..173
FT /note="7"
FT REPEAT 189..192
FT /note="8"
FT REPEAT 199..202
FT /note="9"
FT REPEAT 218..221
FT /note="10"
FT REPEAT 228..231
FT /note="11"
FT REGION 35..231
FT /note="11 X 4 AA repeats of C-C-X-P"
FT VARIANT 27
FT /note="G -> S (in dbSNP:rs7129002)"
FT /id="VAR_060115"
FT VARIANT 28
FT /note="Y -> C (in dbSNP:rs7108370)"
FT /id="VAR_060116"
FT VARIANT 73
FT /note="C -> S (in dbSNP:rs7125831)"
FT /id="VAR_060117"
FT VARIANT 76
FT /note="G -> V (in dbSNP:rs7125826)"
FT /id="VAR_060118"
FT VARIANT 83
FT /note="S -> C (in dbSNP:rs7113784)"
FT /id="VAR_060119"
FT CONFLICT 4
FT /note="S -> C (in Ref. 3; AAT09005)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 238 AA; 22106 MW; E3D415F060B6DC4B CRC64;
MGCSGCSGGC GSSCGGCGSS CGGCGSGYGG CGSGCCVPVC CCKPVCCCVP ACSCSSCGSC
GGSKGVCGSC GGCKGGCGSC GGSKGGCGSS CCVPVCCSSS CGSCGGSKGV CGFRGGSKGG
CGSCGCSQCS CYKPCCCSSG CGSSCCQSSC CKPSCSQSSC CKPCCSQSSC CKPCCCSSGC
GSSCCQSSCC KPCCSQSSCC KPCCCSSGCG SSCCQSSCCK PCSSQSSCCV PICCQCKI
