ID KR10C_HUMAN Reviewed; 245 AA.
AC P60413; B2RPA3;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-FEB-2004, sequence version 1.
DT 27-MAR-2024, entry version 131.
DE RecName: Full=Keratin-associated protein 10-12;
DE AltName: Full=High sulfur keratin-associated protein 10.12;
DE AltName: Full=Keratin-associated protein 10.12;
DE AltName: Full=Keratin-associated protein 18-12;
DE AltName: Full=Keratin-associated protein 18.12;
GN Name=KRTAP10-12;
GN Synonyms=KAP10.12, KAP18-12, KRTAP10.12, KRTAP18-12, KRTAP18.12;
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=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 GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
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).
RN [5]
RP TISSUE SPECIFICITY.
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; AB076364; BAD01551.1; -; mRNA.
DR EMBL; AL773604; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX09404.1; -; Genomic_DNA.
DR EMBL; BC137339; AAI37340.1; -; mRNA.
DR EMBL; BC137341; AAI37342.1; -; mRNA.
DR CCDS; CCDS42967.1; -.
DR RefSeq; NP_941972.1; NM_198699.1.
DR AlphaFoldDB; P60413; -.
DR STRING; 9606.ENSP00000383216; -.
DR BioMuta; KRTAP10-12; -.
DR DMDM; 42558957; -.
DR MassIVE; P60413; -.
DR PaxDb; 9606-ENSP00000383216; -.
DR PeptideAtlas; P60413; -.
DR ProteomicsDB; 57207; -.
DR DNASU; 386685; -.
DR Ensembl; ENST00000400365.3; ENSP00000383216.3; ENSG00000189169.8.
DR GeneID; 386685; -.
DR KEGG; hsa:386685; -.
DR MANE-Select; ENST00000400365.3; ENSP00000383216.3; NM_198699.1; NP_941972.1.
DR UCSC; uc002zfw.1; human.
DR AGR; HGNC:20533; -.
DR CTD; 386685; -.
DR GeneCards; KRTAP10-12; -.
DR HGNC; HGNC:20533; KRTAP10-12.
DR HPA; ENSG00000189169; Tissue enriched (skin).
DR neXtProt; NX_P60413; -.
DR PharmGKB; PA134977717; -.
DR VEuPathDB; HostDB:ENSG00000189169; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163258; -.
DR HOGENOM; CLU_062832_0_0_1; -.
DR InParanoid; P60413; -.
DR OMA; CCQQACC; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; P60413; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 386685; 21 hits in 1065 CRISPR screens.
DR GenomeRNAi; 386685; -.
DR Pharos; P60413; Tdark.
DR PRO; PR:P60413; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P60413; Protein.
DR Bgee; ENSG00000189169; Expressed in male germ line stem cell (sensu Vertebrata) in testis and 21 other cell types or tissues.
DR ExpressionAtlas; P60413; baseline and differential.
DR Genevisible; P60413; 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; KERATIN ASSOCIATED PROTEIN; 1.
DR PANTHER; PTHR23262:SF256; KERATIN-ASSOCIATED PROTEIN 10-6; 1.
DR Pfam; PF13885; Keratin_B2_2; 3.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..245
FT /note="Keratin-associated protein 10-12"
FT /id="PRO_0000185220"
FT REPEAT 36..40
FT /note="1"
FT REPEAT 41..45
FT /note="2"
FT REPEAT 62..66
FT /note="3"
FT REPEAT 84..88
FT /note="4"
FT REPEAT 94..98
FT /note="5"
FT REPEAT 104..108
FT /note="6"
FT REPEAT 109..113
FT /note="7"
FT REPEAT 114..118
FT /note="8"
FT REPEAT 119..123
FT /note="9"
FT REPEAT 124..128
FT /note="10"
FT REPEAT 131..135
FT /note="11"
FT REPEAT 141..145
FT /note="12"
FT REPEAT 151..155
FT /note="13"
FT REPEAT 156..160
FT /note="14"
FT REPEAT 161..165
FT /note="15"
FT REPEAT 173..177
FT /note="16"
FT REPEAT 183..187
FT /note="17"
FT REPEAT 188..192
FT /note="18"
FT REPEAT 214..218
FT /note="19"
FT REGION 36..218
FT /note="19 X 5 AA repeats of C-C-X(3)"
FT VARIANT 146
FT /note="P -> Q (in dbSNP:rs35076450)"
FT /id="VAR_053465"
FT VARIANT 226
FT /note="G -> S (in dbSNP:rs34302939)"
FT /id="VAR_053466"
SQ SEQUENCE 245 AA; 25107 MW; 815BC4AD4A25285E CRC64;
MSVCSSDLSY GSRVCLPGSC DSCSDSWQVD DCPESCCEPP CCAPAPCLSL VCTPVSRVSS
PCCRVTCEPS PCQSGCTSSC TPSCCQQSSC QPACCTSSPC QQACCVPVCC KTVCCKPVCC
MPVCCGPSSS CCQQSSCQPA CCISSPCQQS CCVPVCCKPI CCVPVCSGAS SLCCQQSSCQ
PACCTTSCCR PSSSVSLLCR PVCRPARRVP VPSCCVPTSS CQPSCGRLAS CGSLLCRPTC
SRLAC
//
