KR202_HUMAN
ID KR202_HUMAN Reviewed; 65 AA.
AC Q3LI61;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 1.
DT 03-AUG-2022, entry version 87.
DE RecName: Full=Keratin-associated protein 20-2;
GN Name=KRTAP20-2; Synonyms=KAP20.2;
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].
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 20 family. {ECO:0000305}.
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DR EMBL; AB096957; BAE46372.1; -; mRNA.
DR EMBL; BC111084; AAI11085.1; -; mRNA.
DR CCDS; CCDS13604.1; -.
DR RefSeq; NP_853647.1; NM_181616.1.
DR AlphaFoldDB; Q3LI61; -.
DR STRING; 9606.ENSP00000330746; -.
DR iPTMnet; Q3LI61; -.
DR PhosphoSitePlus; Q3LI61; -.
DR BioMuta; KRTAP20-2; -.
DR DMDM; 88909175; -.
DR MassIVE; Q3LI61; -.
DR PaxDb; Q3LI61; -.
DR PeptideAtlas; Q3LI61; -.
DR PRIDE; Q3LI61; -.
DR ProteomicsDB; 61762; -.
DR DNASU; 337976; -.
DR Ensembl; ENST00000330798.3; ENSP00000330746.2; ENSG00000184032.3.
DR GeneID; 337976; -.
DR KEGG; hsa:337976; -.
DR MANE-Select; ENST00000330798.3; ENSP00000330746.2; NM_181616.3; NP_853647.1.
DR UCSC; uc011adg.3; human.
DR CTD; 337976; -.
DR GeneCards; KRTAP20-2; -.
DR HGNC; HGNC:18944; KRTAP20-2.
DR HPA; ENSG00000184032; Tissue enriched (skin).
DR neXtProt; NX_Q3LI61; -.
DR PharmGKB; PA134896461; -.
DR VEuPathDB; HostDB:ENSG00000184032; -.
DR eggNOG; ENOG502TDP8; Eukaryota.
DR GeneTree; ENSGT00950000186539; -.
DR HOGENOM; CLU_184630_3_0_1; -.
DR OMA; CGCGYGH; -.
DR PathwayCommons; Q3LI61; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 337976; 10 hits in 1025 CRISPR screens.
DR GenomeRNAi; 337976; -.
DR Pharos; Q3LI61; Tdark.
DR PRO; PR:Q3LI61; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q3LI61; protein.
DR Bgee; ENSG00000184032; Expressed in skin of leg and 12 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR InterPro; IPR021743; KRTAP_type6/8/16/19/20/21.
DR Pfam; PF11759; KRTAP; 1.
PE 3: Inferred from homology;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..65
FT /note="Keratin-associated protein 20-2"
FT /id="PRO_0000223911"
FT VARIANT 7
FT /note="Y -> H (in dbSNP:rs8132705)"
FT /id="VAR_060060"
FT VARIANT 13
FT /note="Y -> C (in dbSNP:rs8131539)"
FT /id="VAR_060061"
FT VARIANT 17
FT /note="V -> G (in dbSNP:rs8132721)"
FT /id="VAR_060062"
SQ SEQUENCE 65 AA; 6961 MW; CA1DB5B31C6EBCF8 CRC64;
MCYYSNYYGG LRYGYGVLGG GYGCGCGYGH GYGGLGCGYG RGYGGYGYGC CRPSCYGRYW
SCGFY
