KRA63_HUMAN
ID KRA63_HUMAN Reviewed; 103 AA.
AC Q3LI67; A4IF26; A4QMZ2;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2008, sequence version 3.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Keratin-associated protein 6-3;
GN Name=KRTAP6-3; Synonyms=KAP6.3;
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].
RC TISSUE=Hair root;
RA Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.;
RT "Identification of complete keratin-associated protein (KAP) gene cluster
RT spanning 800 kb region on human chromosome 21q22.11.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-44.
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. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the KRTAP type 6 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAE46366.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB096951; BAE46366.1; ALT_INIT; mRNA.
DR EMBL; BC101121; AAI01122.1; -; mRNA.
DR EMBL; BC118547; AAI18548.1; -; mRNA.
DR EMBL; BC118624; AAI18625.1; -; mRNA.
DR AlphaFoldDB; Q3LI67; -.
DR STRING; 9606.ENSP00000375482; -.
DR BioMuta; KRTAP6-3; -.
DR DMDM; 209572739; -.
DR PaxDb; Q3LI67; -.
DR PRIDE; Q3LI67; -.
DR Ensembl; ENST00000391624.1; ENSP00000375482.2; ENSG00000212938.3.
DR UCSC; uc002yom.4; human.
DR GeneCards; KRTAP6-3; -.
DR HGNC; HGNC:18933; KRTAP6-3.
DR HPA; ENSG00000212938; Not detected.
DR neXtProt; NX_Q3LI67; -.
DR VEuPathDB; HostDB:ENSG00000212938; -.
DR eggNOG; ENOG502TEMB; Eukaryota.
DR HOGENOM; CLU_182642_0_0_1; -.
DR PathwayCommons; Q3LI67; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Pharos; Q3LI67; Tdark.
DR PRO; PR:Q3LI67; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q3LI67; protein.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR GO; GO:0031424; P:keratinization; IEA:InterPro.
DR InterPro; IPR040313; KAP6.
DR PANTHER; PTHR31678; PTHR31678; 2.
PE 3: Inferred from homology;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..103
FT /note="Keratin-associated protein 6-3"
FT /id="PRO_0000223900"
FT VARIANT 44
FT /note="Y -> S (in dbSNP:rs9305426)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_060046"
FT VARIANT 51
FT /note="Y -> S (in dbSNP:rs9305426)"
FT /id="VAR_047018"
FT CONFLICT 38
FT /note="G -> R (in Ref. 1; BAE46366)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 103 AA; 10409 MW; 30879E14E8FD71AF CRC64;
MCGSYYRNYN GGHGYGCCGY GGLGCGYGGC GYGCCGYGGL GFGYGGLDCG YGGLGCGYGS
FCGCGYRGLD CGYGCGYGYV SHSFCGCGYR CGSGYGSSFG YYY
