KRA99_HUMAN
ID KRA99_HUMAN Reviewed; 154 AA.
AC Q9BYP9; B5MDD6; Q9BYQ1;
DT 14-NOV-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Keratin-associated protein 9-9;
DE AltName: Full=Keratin-associated protein 9-5;
DE AltName: Full=Keratin-associated protein 9.5;
DE AltName: Full=Keratin-associated protein 9.9;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 9.9;
GN Name=KRTAP9-9; Synonyms=KAP9.5, KAP9.9, KRTAP9-5, KRTAP9.5, KRTAP9.9;
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] (ISOFORMS 1 AND 2).
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).
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BYP9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BYP9-2; Sequence=VSP_028981;
CC Name=3;
CC IsoId=Q9BYP9-3; Sequence=VSP_054315, VSP_028981;
CC -!- SIMILARITY: Belongs to the KRTAP type 9 family. {ECO:0000305}.
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DR EMBL; AJ406951; CAC27590.1; -; mRNA.
DR EMBL; AJ406949; CAC27588.1; -; mRNA.
DR EMBL; AC006070; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS54127.1; -. [Q9BYP9-3]
DR RefSeq; NP_001305156.1; NM_001318227.1. [Q9BYP9-2]
DR RefSeq; NP_112237.2; NM_030975.2. [Q9BYP9-3]
DR AlphaFoldDB; Q9BYP9; -.
DR BioGRID; 123614; 1.
DR iPTMnet; Q9BYP9; -.
DR PhosphoSitePlus; Q9BYP9; -.
DR BioMuta; KRTAP9-9; -.
DR MassIVE; Q9BYP9; -.
DR PeptideAtlas; Q9BYP9; -.
DR PRIDE; Q9BYP9; -.
DR DNASU; 81870; -.
DR Ensembl; ENST00000394008.1; ENSP00000377576.1; ENSG00000198083.9. [Q9BYP9-3]
DR Ensembl; ENST00000570825.1; ENSP00000460586.1; ENSG00000262594.4. [Q9BYP9-3]
DR GeneID; 81870; -.
DR KEGG; hsa:81870; -.
DR UCSC; uc021txh.1; human. [Q9BYP9-1]
DR CTD; 81870; -.
DR GeneCards; KRTAP9-9; -.
DR HGNC; HGNC:16773; KRTAP9-9.
DR HPA; ENSG00000198083; Tissue enriched (skin).
DR neXtProt; NX_Q9BYP9; -.
DR OpenTargets; ENSG00000198083; -.
DR PharmGKB; PA38413; -.
DR VEuPathDB; HostDB:ENSG00000198083; -.
DR GeneTree; ENSGT00940000156135; -.
DR HOGENOM; CLU_113141_2_0_1; -.
DR InParanoid; Q9BYP9; -.
DR OMA; ASHCICY; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; Q9BYP9; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 81870; 13 hits in 986 CRISPR screens.
DR GenomeRNAi; 81870; -.
DR Pharos; Q9BYP9; Tdark.
DR PRO; PR:Q9BYP9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYP9; protein.
DR Bgee; ENSG00000198083; Expressed in skin of abdomen and 15 other tissues.
DR Genevisible; Q9BYP9; 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; 2.
DR Pfam; PF13885; Keratin_B2_2; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Keratin; Reference proteome; Repeat.
FT CHAIN 1..154
FT /note="Keratin-associated protein 9-9"
FT /id="PRO_0000185193"
FT REPEAT 8..12
FT /note="1"
FT REPEAT 13..17
FT /note="2"
FT REPEAT 18..22
FT /note="3"
FT REPEAT 37..41
FT /note="4"
FT REPEAT 42..46
FT /note="5"
FT REPEAT 51..55
FT /note="6"
FT REPEAT 56..60
FT /note="7"
FT REPEAT 61..65
FT /note="8"
FT REPEAT 66..70
FT /note="9"
FT REPEAT 75..79
FT /note="10"
FT REPEAT 124..128
FT /note="11"
FT REPEAT 129..133
FT /note="12"
FT REPEAT 134..137
FT /note="13"
FT REPEAT 148..152
FT /note="14"
FT REGION 8..152
FT /note="14 X 5 AA repeats of C-C-[RQVGE]-[SPSTNQ]-[TASL]"
FT VAR_SEQ 15..19
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_054315"
FT VAR_SEQ 72
FT /note="L -> LTSCCQPSCCSTTCCQPICCG (in isoform 2 and isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:11279113"
FT /id="VSP_028981"
FT VARIANT 36
FT /note="P -> S (in dbSNP:rs9903833)"
FT /id="VAR_060047"
FT VARIANT 56
FT /note="C -> S (in dbSNP:rs9902235)"
FT /id="VAR_060048"
SQ SEQUENCE 154 AA; 16266 MW; 0A712C6FB10711BE CRC64;
MTHCCSPCCQ PTCCRTTCCR TTCWKPTTVT TCSSTPCCQP SCCVSSCCQP CCRPACCQNT
CCRTTCCQPT CLSSCCGQTS CGSSCGQSSS CAPVYCRRTC YYPTTVCLPG CLNQSCGSSC
CQPCCRPACC ETTCCRTTCF QPTCVSSCCQ PSCC
