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Keratin-associated protein 10-6 (High sulfur keratin-associated protein 10.6) (Keratin-associated protein 10.6) (Keratin-associated protein 18-6) (Keratin-associated protein 18.6)

 KR106_HUMAN             Reviewed;         365 AA.
P60371;
16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
09-FEB-2010, sequence version 2.
20-JUN-2018, entry version 113.
RecName: Full=Keratin-associated protein 10-6;
AltName: Full=High sulfur keratin-associated protein 10.6;
AltName: Full=Keratin-associated protein 10.6;
AltName: Full=Keratin-associated protein 18-6;
AltName: Full=Keratin-associated protein 18.6;
Name=KRTAP10-6;
Synonyms=KAP10.6, KAP18-6, KRTAP10.6, KRTAP18-6, KRTAP18.6;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS
PRO-SER-CYS-CYS-ALA-81 INS AND SER-300.
TISSUE=Hair root;
PubMed=15028290; DOI=10.1016/j.ygeno.2003.09.024;
Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J.,
Shimizu N.;
"A cluster of 21 keratin-associated protein genes within introns of
another gene on human chromosome 21q22.3.";
Genomics 83:679-693(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=10830953; DOI=10.1038/35012518;
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T.,
Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y.,
Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K.,
Polley A., Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D.,
Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W.,
Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S.,
Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E.,
Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P.,
Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H.,
Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E.,
Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F.,
Lehrach H., Reinhardt R., Yaspo M.-L.;
"The DNA sequence of human chromosome 21.";
Nature 405:311-319(2000).
[3]
TISSUE SPECIFICITY.
PubMed=14962103; DOI=10.1046/j.0022-202X.2003.22128.x;
Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S.,
Schweizer J.;
"Hair keratin associated proteins: characterization of a second high
sulfur KAP gene domain on human chromosome 21.";
J. Invest. Dermatol. 122:147-158(2004).
-!- FUNCTION: In the hair cortex, hair keratin intermediate filaments
are embedded in an interfilamentous matrix, consisting of hair
keratin-associated proteins (KRTAP), which are essential for the
formation of a rigid and resistant hair shaft through their
extensive disulfide bond cross-linking with abundant cysteine
residues of hair keratins. The matrix proteins include the high-
sulfur and high-glycine-tyrosine keratins.
-!- SUBUNIT: Interacts with hair keratins.
-!- INTERACTION:
Q5T686:AVPI1; NbExp=4; IntAct=EBI-12012928, EBI-8640233;
Q6P158:DHX57; NbExp=4; IntAct=EBI-12012928, EBI-1051531;
Q03014:HHEX; NbExp=4; IntAct=EBI-12012928, EBI-747421;
P41227:NAA10; NbExp=4; IntAct=EBI-12012928, EBI-747693;
Q8TAD8:SNIP1; NbExp=4; IntAct=EBI-12012928, EBI-749336;
Q8IYI8:ZNF440; NbExp=4; IntAct=EBI-12012928, EBI-726439;
O43257:ZNHIT1; NbExp=4; IntAct=EBI-12012928, EBI-347522;
-!- TISSUE SPECIFICITY: Restricted to a narrow region of the hair
fiber cuticle, lying approximately 20 cell layers above the apex
of the dermal papilla of the hair root; not detected in any other
tissues. {ECO:0000269|PubMed:14962103,
ECO:0000269|PubMed:15028290}.
-!- SIMILARITY: Belongs to the KRTAP type 10 family. {ECO:0000305}.
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AB076353; BAD01540.1; -; mRNA.
EMBL; AL773602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS42959.1; -.
RefSeq; NP_941961.3; NM_198688.3.
UniGene; Hs.689666; -.
ProteinModelPortal; P60371; -.
IntAct; P60371; 75.
iPTMnet; P60371; -.
PhosphoSitePlus; P60371; -.
BioMuta; KRTAP10-6; -.
DMDM; 288558812; -.
PaxDb; P60371; -.
PeptideAtlas; P60371; -.
PRIDE; P60371; -.
ProteomicsDB; 57200; -.
DNASU; 386674; -.
Ensembl; ENST00000400368; ENSP00000383219; ENSG00000188155.
GeneID; 386674; -.
KEGG; hsa:386674; -.
UCSC; uc032qbq.1; human.
CTD; 386674; -.
EuPathDB; HostDB:ENSG00000188155.9; -.
GeneCards; KRTAP10-6; -.
H-InvDB; HIX0213179; -.
HGNC; HGNC:20523; KRTAP10-6.
neXtProt; NX_P60371; -.
PharmGKB; PA134871340; -.
eggNOG; KOG4726; Eukaryota.
eggNOG; ENOG410XY8D; LUCA.
HOVERGEN; HBG052270; -.
InParanoid; P60371; -.
OrthoDB; EOG091G17RC; -.
PhylomeDB; P60371; -.
Reactome; R-HSA-6805567; Keratinization.
GenomeRNAi; 386674; -.
PRO; PR:P60371; -.
Proteomes; UP000005640; Chromosome 21.
Bgee; ENSG00000188155; -.
CleanEx; HS_KRTAP10-6; -.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0045095; C:keratin filament; IEA:InterPro.
GO; GO:0031424; P:keratinization; TAS:Reactome.
InterPro; IPR002494; KAP.
PANTHER; PTHR23262; PTHR23262; 6.
Pfam; PF13885; Keratin_B2_2; 4.
1: Evidence at protein level;
Complete proteome; Keratin; Polymorphism; Reference proteome; Repeat.
CHAIN 1 365 Keratin-associated protein 10-6.
/FTId=PRO_0000185214.
REPEAT 41 45 1.
REPEAT 46 50 2.
REPEAT 67 71 3.
REPEAT 89 93 4.
REPEAT 99 103 5.
REPEAT 109 113 6.
REPEAT 114 118 7.
REPEAT 119 123 8.
REPEAT 124 128 9.
REPEAT 129 133 10.
REPEAT 135 139 11.
REPEAT 145 149 12.
REPEAT 155 159 13.
REPEAT 160 164 14.
REPEAT 172 176 15.
REPEAT 186 190 16.
REPEAT 208 212 17.
REPEAT 218 222 18.
REPEAT 228 232 19.
REPEAT 233 237 20.
REPEAT 238 242 21.
REPEAT 250 254 22.
REPEAT 260 264 23.
REPEAT 270 274 24.
REPEAT 282 286 25.
REPEAT 292 296 26.
REPEAT 297 301 27.
REPEAT 316 320 28.
REPEAT 334 338 29.
REGION 41 338 29 X 5 AA repeats of C-C-X(3).
COMPBIAS 300 305 Poly-Ser.
VARIANT 68 68 C -> S (in dbSNP:rs13051409).
/FTId=VAR_060049.
VARIANT 74 74 P -> S (in dbSNP:rs13050443).
/FTId=VAR_060050.
VARIANT 81 81 C -> CPSCCA.
/FTId=VAR_017699.
VARIANT 159 159 V -> I (in dbSNP:rs233306).
/FTId=VAR_057649.
VARIANT 300 300 P -> S (in dbSNP:rs465279).
{ECO:0000269|PubMed:15028290}.
/FTId=VAR_062533.
SEQUENCE 365 AA; 36791 MW; 480F13F202A3BEA2 CRC64;
MAASTMSVCS SDLSYGSRVC LPGSCDSCSD SWQVDDCPES CCEPPCCAPA PCLSLVCTPV
SRVSSPCCPV TCEPSPCQSG CTSSCTPSCC QQSSCQLACC ASSPCQQACC VPVCCKTVCC
KPVCCVSVCC GDSSCCQQSS CQSACCTSSP CQQACCVPVC CKPVCSGISS SCCQQSSCVS
CVSSPCCQAV CEPSPCQSGC TSSCTPSCCQ QSSCQPTCCT SSPCQQACCV PVCCVPVCCV
PTCSEDSSSC CQQSSCQPAC CTSSPCQHAC CVPVCSGAST SCCQQSSCQP ACCTASCCRP
SSSVSLLCHP VCKSTCCVPV PSCGASASSC QPSCCRTASC VSLLCRPMCS RPACYSLCSG
QKSSC


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