KRA55_HUMAN
ID KRA55_HUMAN Reviewed; 237 AA.
AC Q701N2; A8MWN2;
DT 21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Keratin-associated protein 5-5;
DE AltName: Full=Keratin-associated protein 5-11;
DE AltName: Full=Keratin-associated protein 5.11;
DE AltName: Full=Keratin-associated protein 5.5;
DE AltName: Full=Ultrahigh sulfur keratin-associated protein 5.5;
GN Name=KRTAP5-5; Synonyms=KAP5-11, KAP5.5, KRTAP5-11, KRTAP5.11, KRTAP5.5;
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=15144888; DOI=10.1016/j.bbrc.2004.04.074;
RA Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J.,
RA Shimizu N.;
RT "Identification of two novel clusters of ultrahigh-sulfur keratin-
RT associated protein genes on human chromosome 11.";
RL Biochem. Biophys. Res. Commun. 318:655-664(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Scalp;
RA Rogers M.A., Langbein L., Winter H., Praetzel S., Schweizer J.;
RT "Characterization of two domains of keratin associated protein (KAP) family
RT members on human chromosome 11.";
RL Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated protein (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 hair root, not detected in any other
CC tissues. {ECO:0000269|PubMed:15144888}.
CC -!- SIMILARITY: Belongs to the KRTAP type 5 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; AB126074; BAD20201.1; -; mRNA.
DR EMBL; AJ628247; CAF31639.1; -; mRNA.
DR EMBL; AP006285; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS41592.1; -.
DR RefSeq; NP_001001480.2; NM_001001480.2.
DR RefSeq; XP_006725597.1; XM_006725534.2.
DR AlphaFoldDB; Q701N2; -.
DR STRING; 9606.ENSP00000382584; -.
DR iPTMnet; Q701N2; -.
DR PhosphoSitePlus; Q701N2; -.
DR BioMuta; KRTAP5-5; -.
DR DMDM; 215274010; -.
DR MassIVE; Q701N2; -.
DR PaxDb; Q701N2; -.
DR PeptideAtlas; Q701N2; -.
DR PRIDE; Q701N2; -.
DR Ensembl; ENST00000399676.3; ENSP00000382584.2; ENSG00000185940.10.
DR Ensembl; ENST00000618541.2; ENSP00000481348.1; ENSG00000277291.2.
DR GeneID; 439915; -.
DR KEGG; hsa:439915; -.
DR MANE-Select; ENST00000399676.4; ENSP00000382584.2; NM_001001480.3; NP_001001480.2.
DR UCSC; uc001lty.4; human.
DR CTD; 439915; -.
DR GeneCards; KRTAP5-5; -.
DR HGNC; HGNC:23601; KRTAP5-5.
DR HPA; ENSG00000185940; Tissue enriched (skin).
DR neXtProt; NX_Q701N2; -.
DR OpenTargets; ENSG00000185940; -.
DR PharmGKB; PA134889326; -.
DR VEuPathDB; HostDB:ENSG00000185940; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000164129; -.
DR HOGENOM; CLU_097966_0_0_1; -.
DR OMA; RSMCTEC; -.
DR PathwayCommons; Q701N2; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 439915; 62 hits in 985 CRISPR screens.
DR GenomeRNAi; 439915; -.
DR Pharos; Q701N2; Tdark.
DR PRO; PR:Q701N2; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q701N2; protein.
DR Bgee; ENSG00000185940; Expressed in thymus and 20 other tissues.
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; PF13885; Keratin_B2_2; 2.
PE 2: Evidence at transcript level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..237
FT /note="Keratin-associated protein 5-5"
FT /id="PRO_0000184103"
FT REPEAT 62..65
FT /note="1"
FT REPEAT 68..71
FT /note="2"
FT REPEAT 74..77
FT /note="3"
FT REPEAT 159..162
FT /note="4"
FT REPEAT 178..181
FT /note="5"
FT REPEAT 188..191
FT /note="6"
FT REPEAT 198..201
FT /note="7"
FT REPEAT 227..230
FT /note="8"
FT REGION 62..230
FT /note="8 X 4 AA repeats of C-C-X-P"
FT CONFLICT 17
FT /note="R -> L (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 31
FT /note="C -> R (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 43
FT /note="G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 53
FT /note="A -> G (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 109..118
FT /note="Missing (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 157
FT /note="S -> C (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
FT CONFLICT 173..182
FT /note="Missing (in Ref. 1; BAD20201 and 2; CAF31639)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 237 AA; 21409 MW; 128ED3480D2D5FEB CRC64;
MGCCGCSGGC GSGCGGRGSG CGGCGSGCGG CGSGCGGCGS GCGGCGGCGS GCAGCGGCGS
GCCVPVCCCK PMCCCVPACS CSSCGKGGCG SCGGSKRGCV SCGVSKGACG SCGGSKGGCG
SCGGSKGGCG SCGGSKGGCG SCGGSKGGCG SYGCSQSSCC KPCCCSSGCG SSCCQSSCCK
PYCCQSSCCK PYCCQSSCCK PCSCFSGCGS SCCQSSCYKP CCCQSSCCVP VCCQCKI
