ID KRA94_HUMAN Reviewed; 154 AA. AC Q9BYQ2; Q0VAE3; DT 14-NOV-2003, integrated into UniProtKB/Swiss-Prot. DT 18-MAY-2010, sequence version 2. DT 24-JUL-2013, entry version 78. DE RecName: Full=Keratin-associated protein 9-4; DE AltName: Full=Keratin-associated protein 9.4; DE AltName: Full=Ultrahigh sulfur keratin-associated protein 9.4; GN Name=KRTAP9-4; Synonyms=KAP9.4, KRTAP9.4; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT TYR-146. 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., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA 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 RT the human lineage."; RL Nature 440:1045-1049(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT TYR-146. 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments CC are embedded in an interfilamentous matrix, consisting of hair CC keratin-associated proteins (KRTAP), which are essential for the CC formation of a rigid and resistant hair shaft through their CC extensive disulfide bond cross-linking with abundant cysteine CC residues of hair keratins. The matrix proteins include the high- CC sulfur and high-glycine-tyrosine keratins. CC -!- SUBUNIT: Interacts with hair keratins. CC -!- SIMILARITY: Belongs to the KRTAP type 9 family. 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; AJ406948; CAC27587.1; -; mRNA. DR EMBL; AC006070; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC121094; AAI21095.1; -; mRNA. DR IPI; IPI00260814; -. DR RefSeq; NP_149461.2; NM_033191.2. DR UniGene; Hs.528700; -. DR ProteinModelPortal; Q9BYQ2; -. DR STRING; 9606.ENSP00000334922; -. DR DMDM; 296434558; -. DR PaxDb; Q9BYQ2; -. DR Ensembl; ENST00000334109; ENSP00000334922; ENSG00000241595. DR Ensembl; ENST00000570861; ENSP00000461634; ENSG00000262896. DR Ensembl; ENST00000575341; ENSP00000461584; ENSG00000262512. DR GeneID; 85280; -. DR KEGG; hsa:85280; -. DR UCSC; uc002hwi.3; human. DR CTD; 85280; -. DR GeneCards; GC17P039405; -. DR HGNC; HGNC:18902; KRTAP9-4. DR neXtProt; NX_Q9BYQ2; -. DR PharmGKB; PA38750; -. DR eggNOG; NOG293592; -. DR HOGENOM; HOG000234030; -. DR HOVERGEN; HBG096080; -. DR InParanoid; Q9BYQ2; -. DR OMA; CKPCCSP; -. DR OrthoDB; EOG4MKNJ2; -. DR GenomeRNAi; 85280; -. DR NextBio; 75716; -. DR Bgee; Q9BYQ2; -. DR CleanEx; HS_KRTAP9-4; -. DR Genevestigator; Q9BYQ2; -. DR GO; GO:0045095; C:keratin filament; IEA:InterPro. DR InterPro; IPR002494; Keratin-assoc. DR PANTHER; PTHR23262; PTHR23262; 1. PE 2: Evidence at transcript level; KW Complete proteome; Keratin; Polymorphism; Reference proteome; Repeat. FT CHAIN 1 154 Keratin-associated protein 9-4. FT /FTId=PRO_0000185190. FT REPEAT 8 12 1. FT REPEAT 13 17 2. FT REPEAT 18 22 3. FT REPEAT 37 41 4. FT REPEAT 42 46 5. FT REPEAT 51 55 6. FT REPEAT 56 60 7. FT REPEAT 61 65 8. FT REPEAT 70 74 9. FT REPEAT 75 79 10. FT REPEAT 80 84 11. FT REPEAT 85 89 12. FT REPEAT 129 133 13. FT REPEAT 134 138 14. FT REPEAT 148 152 15. FT REGION 8 152 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- FT [TASPF]. FT VARIANT 146 146 S -> Y (in dbSNP:rs62065349). FT /FTId=VAR_060242. SQ SEQUENCE 154 AA; 16378 MW; 260D862E16165105 CRC64; MTHCCSPCCQ PTCCRTTCCR TTCWKPTTVT TCSSTPCCQP SCCVSSCCQP CCRPTCCQNT CCQPTCVTSC CQPSCCSTPC CQPTCCGSSC DQSSSCAPVY CRRTCYYPTT VCLPGCLNQS CGSNCCQPCC RPACCETTCF QPTCVSSCCQ PFCC //