KR131_HUMAN
ID KR131_HUMAN Reviewed; 172 AA.
AC Q8IUC0; Q14D20; Q3LI79;
DT 19-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2003, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Keratin-associated protein 13-1;
DE AltName: Full=High sulfur keratin-associated protein 13.1;
GN Name=KRTAP13-1; Synonyms=KAP13.1, KRTAP13.1;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Scalp;
RX PubMed=12359730; DOI=10.1074/jbc.m206422200;
RA Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Schweizer J.;
RT "Characterization of a first domain of human high glycine-tyrosine and high
RT sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1.";
RL J. Biol. Chem. 277:48993-49002(2002).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [4]
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.
CC -!- TISSUE SPECIFICITY: Weak expression seen in the late matrix and entire
CC cortex area of the hair follicle. {ECO:0000269|PubMed:12359730}.
CC -!- SIMILARITY: Belongs to the PMG family. {ECO:0000305}.
CC -!- CAUTION: The sequence of 1-41 of PubMed:12359730 has not been
CC submitted. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI13537.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI13539.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AJ457066; CAD29722.1; -; mRNA.
DR EMBL; AB096939; BAE46354.1; -; mRNA.
DR EMBL; AP001708; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC113536; AAI13537.1; ALT_INIT; mRNA.
DR EMBL; BC113538; AAI13539.1; ALT_INIT; mRNA.
DR CCDS; CCDS13590.2; -.
DR RefSeq; NP_853630.2; NM_181599.2.
DR AlphaFoldDB; Q8IUC0; -.
DR BioGRID; 126601; 43.
DR IntAct; Q8IUC0; 1.
DR MINT; Q8IUC0; -.
DR STRING; 9606.ENSP00000347635; -.
DR iPTMnet; Q8IUC0; -.
DR PhosphoSitePlus; Q8IUC0; -.
DR BioMuta; KRTAP13-1; -.
DR DMDM; 33112378; -.
DR MassIVE; Q8IUC0; -.
DR PaxDb; Q8IUC0; -.
DR PeptideAtlas; Q8IUC0; -.
DR PRIDE; Q8IUC0; -.
DR ProteomicsDB; 70539; -.
DR Antibodypedia; 22470; 36 antibodies from 10 providers.
DR DNASU; 140258; -.
DR Ensembl; ENST00000355459.4; ENSP00000347635.2; ENSG00000198390.5.
DR GeneID; 140258; -.
DR KEGG; hsa:140258; -.
DR MANE-Select; ENST00000355459.4; ENSP00000347635.2; NM_181599.3; NP_853630.2.
DR UCSC; uc002yoa.4; human.
DR CTD; 140258; -.
DR GeneCards; KRTAP13-1; -.
DR HGNC; HGNC:18924; KRTAP13-1.
DR HPA; ENSG00000198390; Tissue enriched (skin).
DR MIM; 608718; gene.
DR neXtProt; NX_Q8IUC0; -.
DR OpenTargets; ENSG00000198390; -.
DR PharmGKB; PA134987916; -.
DR VEuPathDB; HostDB:ENSG00000198390; -.
DR eggNOG; ENOG502STG2; Eukaryota.
DR GeneTree; ENSGT00940000162756; -.
DR HOGENOM; CLU_111618_0_0_1; -.
DR InParanoid; Q8IUC0; -.
DR OMA; RCQTSYV; -.
DR OrthoDB; 1292816at2759; -.
DR PhylomeDB; Q8IUC0; -.
DR TreeFam; TF337331; -.
DR PathwayCommons; Q8IUC0; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q8IUC0; -.
DR BioGRID-ORCS; 140258; 11 hits in 1059 CRISPR screens.
DR GenomeRNAi; 140258; -.
DR Pharos; Q8IUC0; Tdark.
DR PRO; PR:Q8IUC0; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q8IUC0; protein.
DR Bgee; ENSG00000198390; Expressed in right lung and 15 other tissues.
DR Genevisible; Q8IUC0; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR InterPro; IPR007951; KRTAP_PMG.
DR PANTHER; PTHR19051; PTHR19051; 1.
DR Pfam; PF05287; PMG; 1.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..172
FT /note="Keratin-associated protein 13-1"
FT /id="PRO_0000185200"
FT REPEAT 46..55
FT /note="1"
FT REPEAT 56..65
FT /note="2"
FT REPEAT 66..75
FT /note="3"
FT REPEAT 76..85
FT /note="4"
FT REPEAT 92..101
FT /note="5"
FT REGION 46..101
FT /note="5 X 10 AA approximate repeats"
SQ SEQUENCE 172 AA; 18320 MW; 1699D1A35AB378AE CRC64;
MSYNCCSGNF SSRSCGGYLH YPASSCGFSY PSNQVYSTDL CSPSTCQLGS SLYRGCQQTC
WEPTSCQTSY VESSPCQTSC YRPRTSLLCS PCQTTYSGSL GFGSSSCRSL GYGSRSCYSV
GCGSSGFRSL GYGGCGFPSL GYGVGFCRPT YLASRSCQSS CYRPTCGSGF YY
