GenomeNet

Database: UniProt
Entry: Q6L8G9
LinkDB: Q6L8G9
Original site: Q6L8G9 
ID   KRA56_HUMAN             Reviewed;         129 AA.
AC   Q6L8G9; A1L452;
DT   21-DEC-2004, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   08-MAY-2019, entry version 100.
DE   RecName: Full=Keratin-associated protein 5-6;
DE   AltName: Full=Keratin-associated protein 5.6;
DE   AltName: Full=Ultrahigh sulfur keratin-associated protein 5.6;
GN   Name=KRTAP5-6; Synonyms=KAP5.6, KRTAP5.6;
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 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 [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
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 protein (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   -!- INTERACTION:
CC       O43184-4:ADAM12; NbExp=4; IntAct=EBI-10250562, EBI-12006944;
CC       Q6UY14-3:ADAMTSL4; NbExp=3; IntAct=EBI-10250562, EBI-10173507;
CC       Q8NEC5:CATSPER1; NbExp=5; IntAct=EBI-10250562, EBI-744545;
CC       Q9UGL9:CRCT1; NbExp=4; IntAct=EBI-10250562, EBI-713677;
CC       Q02930-3:CREB5; NbExp=7; IntAct=EBI-10250562, EBI-10192698;
CC       A8MQ03:CYSRT1; NbExp=4; IntAct=EBI-10250562, EBI-3867333;
CC       O76003:GLRX3; NbExp=5; IntAct=EBI-10250562, EBI-374781;
CC       P49639:HOXA1; NbExp=7; IntAct=EBI-10250562, EBI-740785;
CC       P60370:KRTAP10-5; NbExp=3; IntAct=EBI-10250562, EBI-10172150;
CC       P60409:KRTAP10-7; NbExp=3; IntAct=EBI-10250562, EBI-10172290;
CC       P60410:KRTAP10-8; NbExp=5; IntAct=EBI-10250562, EBI-10171774;
CC       P60411:KRTAP10-9; NbExp=3; IntAct=EBI-10250562, EBI-10172052;
CC       Q6PEX3:KRTAP26-1; NbExp=5; IntAct=EBI-10250562, EBI-3957672;
CC       Q9BQ66:KRTAP4-12; NbExp=5; IntAct=EBI-10250562, EBI-739863;
CC       Q9BYR5:KRTAP4-2; NbExp=7; IntAct=EBI-10250562, EBI-10172511;
CC       P26371:KRTAP5-9; NbExp=7; IntAct=EBI-10250562, EBI-3958099;
CC       Q9BYQ4:KRTAP9-2; NbExp=5; IntAct=EBI-10250562, EBI-1044640;
CC       Q9BYQ2:KRTAP9-4; NbExp=3; IntAct=EBI-10250562, EBI-10185730;
CC       Q5T7P2:LCE1A; NbExp=4; IntAct=EBI-10250562, EBI-11962058;
CC       Q5T754:LCE1F; NbExp=4; IntAct=EBI-10250562, EBI-11958008;
CC       Q5TA81:LCE2C; NbExp=4; IntAct=EBI-10250562, EBI-11973993;
CC       Q5TA76:LCE3A; NbExp=4; IntAct=EBI-10250562, EBI-9394625;
CC       Q5T5B0:LCE3E; NbExp=4; IntAct=EBI-10250562, EBI-10245456;
CC       P50222:MEOX2; NbExp=3; IntAct=EBI-10250562, EBI-748397;
CC       Q9UBE8:NLK; NbExp=3; IntAct=EBI-10250562, EBI-366978;
CC       Q7Z3S9:NOTCH2NLA; NbExp=5; IntAct=EBI-10250562, EBI-945833;
CC       Q7Z417:NUFIP2; NbExp=5; IntAct=EBI-10250562, EBI-1210753;
CC       P32242:OTX1; NbExp=5; IntAct=EBI-10250562, EBI-740446;
CC       O15162:PLSCR1; NbExp=3; IntAct=EBI-10250562, EBI-740019;
CC       O76081-6:RGS20; NbExp=5; IntAct=EBI-10250562, EBI-10178530;
CC       P49901:SMCP; NbExp=5; IntAct=EBI-10250562, EBI-750494;
CC       O43597:SPRY2; NbExp=3; IntAct=EBI-10250562, EBI-742487;
CC   -!- TISSUE SPECIFICITY: Expressed in hair root and not in skin.
CC       Expressed also in liver and skeletal muscle.
CC       {ECO:0000269|PubMed:15144888}.
CC   -!- SIMILARITY: Belongs to the KRTAP type 5 family. {ECO:0000305}.
DR   EMBL; AB126075; BAD20202.1; -; mRNA.
DR   EMBL; BC130399; AAI30400.1; -; mRNA.
DR   EMBL; BC133035; AAI33036.1; -; mRNA.
DR   CCDS; CCDS31332.1; -.
DR   RefSeq; NP_001012416.1; NM_001012416.1.
DR   BioGrid; 136221; 26.
DR   IntAct; Q6L8G9; 77.
DR   STRING; 9606.ENSP00000371595; -.
DR   iPTMnet; Q6L8G9; -.
DR   PhosphoSitePlus; Q6L8G9; -.
DR   BioMuta; KRTAP5-6; -.
DR   PaxDb; Q6L8G9; -.
DR   PeptideAtlas; Q6L8G9; -.
DR   PRIDE; Q6L8G9; -.
DR   ProteomicsDB; 66551; -.
DR   DNASU; 440023; -.
DR   Ensembl; ENST00000382160; ENSP00000371595; ENSG00000205864.
DR   Ensembl; ENST00000611731; ENSP00000479098; ENSG00000277389.
DR   GeneID; 440023; -.
DR   KEGG; hsa:440023; -.
DR   UCSC; uc001lua.3; human.
DR   CTD; 440023; -.
DR   GeneCards; KRTAP5-6; -.
DR   HGNC; HGNC:23600; KRTAP5-6.
DR   neXtProt; NX_Q6L8G9; -.
DR   OpenTargets; ENSG00000205864; -.
DR   PharmGKB; PA134922071; -.
DR   GeneTree; ENSGT00940000164776; -.
DR   OMA; SCPPGQC; -.
DR   Reactome; R-HSA-6805567; Keratinization.
DR   GenomeRNAi; 440023; -.
DR   PRO; PR:Q6L8G9; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   Bgee; ENSG00000205864; Expressed in 14 organ(s), highest expression level in right lobe of liver.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR   GO; GO:0031424; P:keratinization; TAS:Reactome.
DR   InterPro; IPR002494; KAP.
DR   PANTHER; PTHR23262; PTHR23262; 1.
PE   1: Evidence at protein level;
KW   Complete proteome; Keratin; Polymorphism; Reference proteome; Repeat.
FT   CHAIN         1    129       Keratin-associated protein 5-6.
FT                                /FTId=PRO_0000184104.
FT   REPEAT       28     31       1.
FT   REPEAT       34     37       2.
FT   REPEAT       40     43       3.
FT   REPEAT       90     93       4.
FT   REPEAT      109    112       5.
FT   REPEAT      119    122       6.
FT   REGION       28    112       6 X 4 AA repeats of C-C-X-P.
FT   VARIANT       6      6       C -> F (in dbSNP:rs58645950).
FT                                /FTId=VAR_062155.
SQ   SEQUENCE   129 AA;  11784 MW;  3C19C560119E2C3F CRC64;
     MGCCGCSGGC GSGCGGCGSG CGGCGSSCCV PICCCKPVCC CVPACSCTSC GSCGGSKGCC
     GSCGGSKGGC GSCGGSKGGC GSCGCSQCSC CKPCYCSSGC GSSCCQSSCC KPCCSQASCC
     VPICCQCKI
//
DBGET integrated database retrieval system