KR103_HUMAN
ID KR103_HUMAN Reviewed; 221 AA.
AC P60369; A3KN67; Q70LJ4;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-DEC-2008, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Keratin-associated protein 10-3;
DE AltName: Full=High sulfur keratin-associated protein 10.3;
DE AltName: Full=Keratin-associated protein 10.3;
DE AltName: Full=Keratin-associated protein 18-3;
DE AltName: Full=Keratin-associated protein 18.3;
GN Name=KRTAP10-3; Synonyms=KAP10.3, KAP18-3, KRTAP10.3, KRTAP18-3, KRTAP18.3;
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], TISSUE SPECIFICITY, AND VARIANT TYR-170.
RC TISSUE=Hair root;
RX PubMed=15028290; DOI=10.1016/j.ygeno.2003.09.024;
RA Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.;
RT "A cluster of 21 keratin-associated protein genes within introns of another
RT gene on human chromosome 21q22.3.";
RL Genomics 83:679-693(2004).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-3.
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 NUCLEOTIDE SEQUENCE [MRNA] OF 167-221, TISSUE SPECIFICITY, AND VARIANT
RP TYR-170.
RC TISSUE=Scalp;
RX PubMed=14962103; DOI=10.1046/j.0022-202x.2003.22128.x;
RA Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S.,
RA Schweizer J.;
RT "Hair keratin associated proteins: characterization of a second high sulfur
RT KAP gene domain on human chromosome 21.";
RL J. Invest. Dermatol. 122:147-158(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: Restricted to a narrow region of the hair fiber
CC cuticle, lying approximately 20 cell layers above the apex of the
CC dermal papilla of the hair root; not detected in any other tissues.
CC {ECO:0000269|PubMed:14962103, ECO:0000269|PubMed:15028290}.
CC -!- SIMILARITY: Belongs to the KRTAP type 10 family. {ECO:0000305}.
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DR EMBL; AB076350; BAD01537.1; -; mRNA.
DR EMBL; AP001067; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC133677; AAI33678.1; -; mRNA.
DR EMBL; AJ566383; CAD97463.1; -; mRNA.
DR CCDS; CCDS42956.1; -.
DR RefSeq; NP_941969.2; NM_198696.2.
DR AlphaFoldDB; P60369; -.
DR BioGRID; 132133; 294.
DR IntAct; P60369; 8.
DR STRING; 9606.ENSP00000375478; -.
DR BioMuta; KRTAP10-3; -.
DR DMDM; 218511664; -.
DR MassIVE; P60369; -.
DR PaxDb; P60369; -.
DR PeptideAtlas; P60369; -.
DR PRIDE; P60369; -.
DR ProteomicsDB; 57198; -.
DR DNASU; 386682; -.
DR Ensembl; ENST00000391620.2; ENSP00000375478.1; ENSG00000212935.2.
DR GeneID; 386682; -.
DR KEGG; hsa:386682; -.
DR MANE-Select; ENST00000391620.2; ENSP00000375478.1; NM_198696.3; NP_941969.2.
DR UCSC; uc002zfj.2; human.
DR CTD; 386682; -.
DR GeneCards; KRTAP10-3; -.
DR HGNC; HGNC:22968; KRTAP10-3.
DR HPA; ENSG00000212935; Tissue enriched (skin).
DR neXtProt; NX_P60369; -.
DR PharmGKB; PA134941853; -.
DR VEuPathDB; HostDB:ENSG00000212935; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000158579; -.
DR HOGENOM; CLU_062832_0_0_1; -.
DR InParanoid; P60369; -.
DR OMA; EASSPCC; -.
DR OrthoDB; 1622331at2759; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; P60369; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; P60369; -.
DR BioGRID-ORCS; 386682; 15 hits in 1058 CRISPR screens.
DR GenomeRNAi; 386682; -.
DR Pharos; P60369; Tdark.
DR PRO; PR:P60369; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P60369; protein.
DR Bgee; ENSG00000212935; Expressed in skin of abdomen and 13 other tissues.
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; 2.
DR Pfam; PF13885; Keratin_B2_2; 1.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..221
FT /note="Keratin-associated protein 10-3"
FT /id="PRO_0000185211"
FT REPEAT 26..30
FT /note="1"
FT REPEAT 31..35
FT /note="2"
FT REPEAT 36..40
FT /note="3"
FT REPEAT 57..61
FT /note="4"
FT REPEAT 79..83
FT /note="5"
FT REPEAT 89..93
FT /note="6"
FT REPEAT 99..103
FT /note="7"
FT REPEAT 104..108
FT /note="8"
FT REPEAT 109..113
FT /note="9"
FT REPEAT 114..118
FT /note="10"
FT REPEAT 119..123
FT /note="11"
FT REPEAT 124..128
FT /note="12"
FT REPEAT 136..140
FT /note="13"
FT REPEAT 146..150
FT /note="14"
FT REPEAT 151..155
FT /note="15"
FT REPEAT 177..181
FT /note="16"
FT REPEAT 188..192
FT /note="17"
FT REPEAT 210..214
FT /note="18"
FT REGION 26..214
FT /note="18 X 5 AA repeats of C-C-X(3)"
FT VARIANT 3
FT /note="T -> A (in dbSNP:rs452472)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047850"
FT VARIANT 170
FT /note="C -> Y (in dbSNP:rs233252)"
FT /evidence="ECO:0000269|PubMed:14962103,
FT ECO:0000269|PubMed:15028290"
FT /id="VAR_047851"
FT CONFLICT 34
FT /note="T -> P (in Ref. 1; BAD01537 and 3; AAI33678)"
FT /evidence="ECO:0000305"
FT CONFLICT 39
FT /note="P -> L (in Ref. 3; AAI33678)"
FT /evidence="ECO:0000305"
FT CONFLICT 165..191
FT /note="Missing (in Ref. 3; AAI33678)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 221 AA; 22348 MW; E4045CE97F41B3B9 CRC64;
MATSTMSVCS SAYSDSWQVD ACPESCCEPP CCATSCCAPA PCLTLVCTPV SCVSSPCCQA
ACEPSPCQSG CTSSCTPSCC QQSSCQPACC TSSPCQQACC VPVCCKPVCC VPVCCKPVCC
KPICCVPVCS GASSSCCQQS SRQPACCTTS CCRPSSSVSL LCRPVCRSTC CVPIPSCCAP
ASTCQPSCCR PASCVSLLCR PTCSRLSSAC CGLSSGQKSS C
