ID   KR201_HUMAN             Reviewed;          56 AA.
AC   Q3LI63;
DT   21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT   08-NOV-2005, sequence version 1.
DT   03-AUG-2022, entry version 92.
DE   RecName: Full=Keratin-associated protein 20-1;
GN   Name=KRTAP20-1; Synonyms=KAP20.1;
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).
RN   [3]
RP   VARIANT [LARGE SCALE ANALYSIS] LEU-52.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
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; AB096955; BAE46370.1; -; mRNA.
DR   EMBL; BC104846; AAI04847.1; -; mRNA.
DR   EMBL; BC104872; AAI04873.1; -; mRNA.
DR   CCDS; CCDS13603.1; -.
DR   RefSeq; NP_853646.1; NM_181615.1.
DR   AlphaFoldDB; Q3LI63; -.
DR   STRING; 9606.ENSP00000335503; -.
DR   BioMuta; KRTAP20-1; -.
DR   DMDM; 88909174; -.
DR   MassIVE; Q3LI63; -.
DR   PaxDb; Q3LI63; -.
DR   PeptideAtlas; Q3LI63; -.
DR   PRIDE; Q3LI63; -.
DR   DNASU; 337975; -.
DR   Ensembl; ENST00000334664.3; ENSP00000335503.2; ENSG00000244624.3.
DR   GeneID; 337975; -.
DR   KEGG; hsa:337975; -.
DR   MANE-Select; ENST00000334664.3; ENSP00000335503.2; NM_181615.2; NP_853646.1.
DR   UCSC; uc011ade.3; human.
DR   CTD; 337975; -.
DR   DisGeNET; 337975; -.
DR   GeneCards; KRTAP20-1; -.
DR   HGNC; HGNC:18943; KRTAP20-1.
DR   HPA; ENSG00000244624; Not detected.
DR   neXtProt; NX_Q3LI63; -.
DR   PharmGKB; PA134953935; -.
DR   VEuPathDB; HostDB:ENSG00000244624; -.
DR   eggNOG; ENOG502TDP7; Eukaryota.
DR   GeneTree; ENSGT00950000183533; -.
DR   HOGENOM; CLU_184630_3_0_1; -.
DR   InParanoid; Q3LI63; -.
DR   OMA; RRTIYAC; -.
DR   PathwayCommons; Q3LI63; -.
DR   Reactome; R-HSA-6805567; Keratinization.
DR   SignaLink; Q3LI63; -.
DR   BioGRID-ORCS; 337975; 11 hits in 1018 CRISPR screens.
DR   GenomeRNAi; 337975; -.
DR   Pharos; Q3LI63; Tdark.
DR   PRO; PR:Q3LI63; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   RNAct; Q3LI63; protein.
DR   Bgee; ENSG00000244624; Expressed in sural nerve and 21 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..56
FT                   /note="Keratin-associated protein 20-1"
FT                   /id="PRO_0000223910"
FT   VARIANT         52
FT                   /note="S -> L (in a breast cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036562"
SQ   SEQUENCE   56 AA;  6202 MW;  2F4D399EDB668CA8 CRC64;
     MIYYSNYYGG YGYGGLGCGY GCGYRGYGCG YGGYGGYGNG YYCPSCYGRY WSYGFY