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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 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. DR Genevisible; P60413; HS. 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 //