KR194_HUMAN
ID KR194_HUMAN Reviewed; 84 AA.
AC Q3LI73; Q17RT4; Q17RT6;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 08-NOV-2005, sequence version 1.
DT 03-AUG-2022, entry version 98.
DE RecName: Full=Keratin-associated protein 19-4;
GN Name=KRTAP19-4; Synonyms=KAP19.4;
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].
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 CYS-48.
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 -!- INTERACTION:
CC Q3LI73; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-12958461, EBI-347538;
CC Q3LI73; Q9P2K6: KLHL42; NbExp=3; IntAct=EBI-12958461, EBI-739890;
CC Q3LI73; Q14847-2: LASP1; NbExp=3; IntAct=EBI-12958461, EBI-9088686;
CC Q3LI73; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-12958461, EBI-12025760;
CC -!- SIMILARITY: Belongs to the KRTAP type 19 family. {ECO:0000305}.
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DR EMBL; AB096945; BAE46360.1; -; mRNA.
DR EMBL; BC117197; AAI17198.1; -; mRNA.
DR EMBL; BC117199; AAI17200.1; -; mRNA.
DR CCDS; CCDS33534.1; -.
DR RefSeq; NP_853641.1; NM_181610.1.
DR AlphaFoldDB; Q3LI73; -.
DR BioGRID; 130654; 12.
DR IntAct; Q3LI73; 4.
DR STRING; 9606.ENSP00000335567; -.
DR iPTMnet; Q3LI73; -.
DR PhosphoSitePlus; Q3LI73; -.
DR BioMuta; KRTAP19-4; -.
DR DMDM; 88909170; -.
DR MassIVE; Q3LI73; -.
DR PaxDb; Q3LI73; -.
DR PeptideAtlas; Q3LI73; -.
DR PRIDE; Q3LI73; -.
DR Antibodypedia; 34974; 7 antibodies from 3 providers.
DR DNASU; 337971; -.
DR Ensembl; ENST00000334058.3; ENSP00000335567.2; ENSG00000186967.7.
DR GeneID; 337971; -.
DR KEGG; hsa:337971; -.
DR MANE-Select; ENST00000334058.3; ENSP00000335567.2; NM_181610.3; NP_853641.1.
DR UCSC; uc011acz.3; human.
DR CTD; 337971; -.
DR GeneCards; KRTAP19-4; -.
DR HGNC; HGNC:18939; KRTAP19-4.
DR HPA; ENSG00000186967; Not detected.
DR neXtProt; NX_Q3LI73; -.
DR PharmGKB; PA134984740; -.
DR VEuPathDB; HostDB:ENSG00000186967; -.
DR eggNOG; ENOG502TDP7; Eukaryota.
DR GeneTree; ENSGT01030000235953; -.
DR HOGENOM; CLU_184630_1_0_1; -.
DR OMA; CHLSSYY; -.
DR OrthoDB; 1638225at2759; -.
DR PathwayCommons; Q3LI73; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q3LI73; -.
DR BioGRID-ORCS; 337971; 8 hits in 993 CRISPR screens.
DR GenomeRNAi; 337971; -.
DR Pharos; Q3LI73; Tdark.
DR PRO; PR:Q3LI73; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q3LI73; protein.
DR Bgee; ENSG00000186967; Expressed in cell and 16 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 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..84
FT /note="Keratin-associated protein 19-4"
FT /id="PRO_0000223906"
FT VARIANT 48
FT /note="Y -> C (in dbSNP:rs2298437)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_053475"
SQ SEQUENCE 84 AA; 9106 MW; DEE899C59F81C419 CRC64;
MSYYGSYYRG LGYGCGGFGG LGYGYGCGCG SFRRLGYGCG FGGNGYGYCR PSCYGGYGFS
ILLKSYPEDT ISEVIRRSFN LTKY