KRA41_HUMAN
ID KRA41_HUMAN Reviewed; 146 AA.
AC Q9BYQ7; A8MWS7; Q3SYF2;
DT 31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 08-FEB-2011, sequence version 3.
DT 25-MAY-2022, entry version 133.
DE RecName: Full=Keratin-associated protein 4-1;
DE AltName: Full=Keratin-associated protein 4-10;
DE AltName: Full=Keratin-associated protein 4.1;
DE AltName: Full=Keratin-associated protein 4.10;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 4.10;
GN Name=KRTAP4-1; Synonyms=KAP4.10, KRTAP4-10, KRTAP4.1, KRTAP4.10;
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 VARIANTS ARG-66 AND THR-134.
RC TISSUE=Scalp;
RX PubMed=11279113; DOI=10.1074/jbc.m100657200;
RA Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Korn B.,
RA Schweizer J.;
RT "Characterization of a cluster of human high/ultrahigh sulfur keratin-
RT associated protein genes embedded in the type I keratin gene domain on
RT chromosome 17q12-21.";
RL J. Biol. Chem. 276:19440-19451(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ARG-66 AND THR-134.
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 [4]
RP TISSUE SPECIFICITY, POLYMORPHISM, VARIANT 83-CYS--SER-101 DEL, AND VARIANTS
RP ARG-66; ARG-115 AND THR-134.
RX PubMed=15955084; DOI=10.1111/j.0022-202x.2005.23662.x;
RA Kariya N., Shimomura Y., Ito M.;
RT "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated
RT protein 4, KAP4, gene family.";
RL J. Invest. Dermatol. 124:1111-1118(2005).
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: Expressed in the hair follicles.
CC {ECO:0000269|PubMed:15955084}.
CC -!- POLYMORPHISM: Numerous size polymorphism are present in KRTAP4 gene
CC family, which are mainly due to variations in the sequence encoding
CC cysteine-rich repeat segments (PubMed:15955084).
CC {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
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DR EMBL; AJ406942; CAC27581.1; -; mRNA.
DR EMBL; AC006070; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC103845; AAI03846.1; -; mRNA.
DR EMBL; BC103846; AAI03847.1; -; mRNA.
DR RefSeq; NP_149049.1; NM_033060.2.
DR AlphaFoldDB; Q9BYQ7; -.
DR BioGRID; 124449; 27.
DR STRING; 9606.ENSP00000381489; -.
DR BioMuta; KRTAP4-1; -.
DR DMDM; 322510119; -.
DR MassIVE; Q9BYQ7; -.
DR PaxDb; Q9BYQ7; -.
DR PeptideAtlas; Q9BYQ7; -.
DR PRIDE; Q9BYQ7; -.
DR ProteomicsDB; 79687; -.
DR DNASU; 85285; -.
DR Ensembl; ENST00000398472.2; ENSP00000381489.1; ENSG00000198443.8.
DR GeneID; 85285; -.
DR KEGG; hsa:85285; -.
DR MANE-Select; ENST00000398472.2; ENSP00000381489.1; NM_001386841.1; NP_001373770.1.
DR UCSC; uc060fau.1; human.
DR CTD; 85285; -.
DR GeneCards; KRTAP4-1; -.
DR HGNC; HGNC:18907; KRTAP4-1.
DR HPA; ENSG00000198443; Tissue enriched (skin).
DR neXtProt; NX_Q9BYQ7; -.
DR OpenTargets; ENSG00000198443; -.
DR PharmGKB; PA38755; -.
DR VEuPathDB; HostDB:ENSG00000198443; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000164350; -.
DR InParanoid; Q9BYQ7; -.
DR OMA; QTTCRPT; -.
DR PhylomeDB; Q9BYQ7; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYQ7; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 85285; 7 hits in 180 CRISPR screens.
DR GenomeRNAi; 85285; -.
DR Pharos; Q9BYQ7; Tdark.
DR PRO; PR:Q9BYQ7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYQ7; protein.
DR Bgee; ENSG00000198443; Expressed in upper arm skin and 40 other tissues.
DR ExpressionAtlas; Q9BYQ7; baseline and differential.
DR Genevisible; Q9BYQ7; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 1.
DR Pfam; PF13885; Keratin_B2_2; 2.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..146
FT /note="Keratin-associated protein 4-1"
FT /id="PRO_0000185177"
FT REPEAT 5..9
FT /note="1"
FT REPEAT 24..28
FT /note="2"
FT REPEAT 29..33
FT /note="3"
FT REPEAT 34..38
FT /note="4"
FT REPEAT 44..48
FT /note="5"
FT REPEAT 54..58
FT /note="6"
FT REPEAT 59..63
FT /note="7"
FT REPEAT 64..68
FT /note="8"
FT REPEAT 69..73
FT /note="9"
FT REPEAT 83..87
FT /note="10"
FT REPEAT 88..92
FT /note="11"
FT REPEAT 102..106
FT /note="12"
FT REPEAT 107..111
FT /note="13"
FT REPEAT 121..125
FT /note="14"
FT REPEAT 126..130
FT /note="15"
FT REPEAT 131..135
FT /note="16"
FT REPEAT 136..140
FT /note="17"
FT REPEAT 141..145
FT /note="18"
FT REGION 5..145
FT /note="18 X 5 AA repeats of C-C-[GRQC]-[SPT]-[VSTL]"
FT VARIANT 66
FT /note="H -> R (in dbSNP:rs2320231)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084"
FT /id="VAR_047044"
FT VARIANT 83..101
FT /note="Missing (in allele KAP4.10)"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_064550"
FT VARIANT 115
FT /note="S -> R (in dbSNP:rs35382039)"
FT /evidence="ECO:0000269|PubMed:15955084"
FT /id="VAR_047045"
FT VARIANT 134
FT /note="A -> T (in dbSNP:rs398825)"
FT /evidence="ECO:0000269|PubMed:11279113,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084"
FT /id="VAR_047046"
SQ SEQUENCE 146 AA; 15241 MW; CC8A16F0519C3DA5 CRC64;
MVNSCCGSVC SDQGCDQGLC QETCCRPSCC QTTCCCPSCV VSSCCRPSCS QTTCCQTTCC
RPSCCHPVCC QTTCRPSCGV SSCCRPLCCQ TTCHPSCGMS SCCRPLCCQT TCRPSCGVSS
CCRPLCCQTT CCRATCCRPS CCGSSC
