KRA22_HUMAN
ID KRA22_HUMAN Reviewed; 123 AA.
AC Q9BYT5; A8MTN3; A8MXM4;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2012, sequence version 3.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Keratin-associated protein 2-2;
DE AltName: Full=High sulfur keratin-associated protein 2.2;
DE AltName: Full=Keratin-associated protein 2.2;
GN Name=KRTAP2-2; Synonyms=KAP2.2, KRTAP2.2;
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 [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).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 44-123.
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).
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 (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with hair keratins. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the KRTAP type 2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAC27564.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The N-terminal part is identical to the product of the KRTAP2-3 gene.; Evidence={ECO:0000305};
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DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ302536; CAC27564.1; ALT_SEQ; mRNA.
DR RefSeq; NP_149021.2; NM_033032.2.
DR AlphaFoldDB; Q9BYT5; -.
DR STRING; 9606.ENSP00000381494; -.
DR BioMuta; KRTAP2-2; -.
DR DMDM; 425906065; -.
DR jPOST; Q9BYT5; -.
DR MassIVE; Q9BYT5; -.
DR PaxDb; Q9BYT5; -.
DR PeptideAtlas; Q9BYT5; -.
DR PRIDE; Q9BYT5; -.
DR Ensembl; ENST00000398477.1; ENSP00000381494.1; ENSG00000214518.4.
DR GeneID; 728279; -.
DR KEGG; hsa:728279; -.
DR MANE-Select; ENST00000398477.1; ENSP00000381494.1; NM_033032.3; NP_149021.2.
DR UCSC; uc010cxj.4; human.
DR CTD; 728279; -.
DR GeneCards; KRTAP2-2; -.
DR HGNC; HGNC:18905; KRTAP2-2.
DR HPA; ENSG00000214518; Tissue enriched (skin).
DR neXtProt; NX_Q9BYT5; -.
DR OpenTargets; ENSG00000214518; -.
DR PharmGKB; PA38753; -.
DR VEuPathDB; HostDB:ENSG00000214518; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000162736; -.
DR HOGENOM; CLU_113141_3_0_1; -.
DR InParanoid; Q9BYT5; -.
DR OrthoDB; 1609178at2759; -.
DR PhylomeDB; Q9BYT5; -.
DR PathwayCommons; Q9BYT5; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 728279; 24 hits in 595 CRISPR screens.
DR GenomeRNAi; 728279; -.
DR Pharos; Q9BYT5; Tdark.
DR PRO; PR:Q9BYT5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9BYT5; protein.
DR Bgee; ENSG00000214518; Expressed in skin of abdomen and 30 other tissues.
DR ExpressionAtlas; Q9BYT5; baseline and differential.
DR Genevisible; Q9BYT5; 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; 1.
DR Pfam; PF01500; Keratin_B2; 1.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..123
FT /note="Keratin-associated protein 2-2"
FT /id="PRO_0000331451"
FT REGION 5..112
FT /note="11 X 5 AA repeats of C-C-[CDPQRWG]-[APRS]-[CIPSTVD]"
FT CONFLICT 59
FT /note="R -> C (in Ref. 2; no nucleotide entry)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 123 AA; 12957 MW; AB1C59036CE8F86E CRC64;
MTGSCCGSTF SSLSYGGGCC QPCCCRDPCC CRPVTCQTTV CRPVTCVPRC TRPICEPCRR
PVCCDPCSLQ EGCCRPITCC PSSCTAVVCR PCCWATTCCQ PVSVQSPCGQ PTPCSTTCRT
SSC