KR104_HUMAN
ID KR104_HUMAN Reviewed; 401 AA.
AC P60372; Q08AS0;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-FEB-2004, sequence version 1.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=Keratin-associated protein 10-4;
DE AltName: Full=High sulfur keratin-associated protein 10.4;
DE AltName: Full=Keratin-associated protein 10.4;
DE AltName: Full=Keratin-associated protein 18-4;
DE AltName: Full=Keratin-associated protein 18.4;
GN Name=KRTAP10-4; Synonyms=KAP10.4, KAP18-4, KRTAP10.4, KRTAP18-4, KRTAP18.4;
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 VARIANTS CYS-62 AND VAL-159.
RC TISSUE=Hair root;
RX PubMed=15028290; DOI=10.1016/j.ygeno.2003.09.024;
RA Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.;
RT "A cluster of 21 keratin-associated protein genes within introns of another
RT gene on human chromosome 21q22.3.";
RL Genomics 83:679-693(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT CYS-62.
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
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 -!- INTERACTION:
CC P60372; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-10178153, EBI-744545;
CC P60372; H3BUJ7: E4F1; NbExp=3; IntAct=EBI-10178153, EBI-10178160;
CC P60372; P49639: HOXA1; NbExp=3; IntAct=EBI-10178153, EBI-740785;
CC P60372; Q969P0: IGSF8; NbExp=3; IntAct=EBI-10178153, EBI-8293590;
CC P60372; Q15040: JOSD1; NbExp=3; IntAct=EBI-10178153, EBI-2510602;
CC P60372; Q6UXX9: RSPO2; NbExp=3; IntAct=EBI-10178153, EBI-8481036;
CC P60372; P17041: ZNF32; NbExp=3; IntAct=EBI-10178153, EBI-1965483;
CC P60372; Q96I27: ZNF625; NbExp=3; IntAct=EBI-10178153, EBI-4395587;
CC P60372; Q16670: ZSCAN26; NbExp=3; IntAct=EBI-10178153, EBI-3920053;
CC -!- TISSUE SPECIFICITY: Restricted to hair root, not detected in any other
CC tissues.
CC -!- SIMILARITY: Belongs to the KRTAP type 10 family. {ECO:0000305}.
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DR EMBL; AB076351; BAD01538.1; -; mRNA.
DR EMBL; AL773602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125048; AAI25049.1; -; mRNA.
DR EMBL; BC125049; AAI25050.1; -; mRNA.
DR CCDS; CCDS42957.1; -.
DR AlphaFoldDB; P60372; -.
DR IntAct; P60372; 10.
DR STRING; 9606.ENSP00000383225; -.
DR PhosphoSitePlus; P60372; -.
DR BioMuta; KRTAP10-4; -.
DR DMDM; 42558952; -.
DR MassIVE; P60372; -.
DR PaxDb; P60372; -.
DR PeptideAtlas; P60372; -.
DR PRIDE; P60372; -.
DR ProteomicsDB; 57201; -.
DR Ensembl; ENST00000400374.4; ENSP00000383225.3; ENSG00000215454.7.
DR UCSC; uc002zfk.2; human.
DR GeneCards; KRTAP10-4; -.
DR HGNC; HGNC:20521; KRTAP10-4.
DR HPA; ENSG00000215454; Tissue enriched (skin).
DR neXtProt; NX_P60372; -.
DR PharmGKB; PA134942730; -.
DR VEuPathDB; HostDB:ENSG00000215454; -.
DR eggNOG; KOG4726; Eukaryota.
DR HOGENOM; CLU_062832_0_0_1; -.
DR InParanoid; P60372; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; P60372; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; P60372; -.
DR Pharos; P60372; Tdark.
DR PRO; PR:P60372; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P60372; protein.
DR Bgee; ENSG00000215454; Expressed in skin of abdomen and 7 other tissues.
DR ExpressionAtlas; P60372; differential.
DR Genevisible; P60372; 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; 3.
DR Pfam; PF13885; Keratin_B2_2; 5.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..401
FT /note="Keratin-associated protein 10-4"
FT /id="PRO_0000185212"
FT REPEAT 36..40
FT /note="1"
FT REPEAT 41..45
FT /note="2"
FT REPEAT 46..50
FT /note="3"
FT REPEAT 67..71
FT /note="4"
FT REPEAT 89..93
FT /note="5"
FT REPEAT 99..103
FT /note="6"
FT REPEAT 109..113
FT /note="7"
FT REPEAT 114..118
FT /note="8"
FT REPEAT 119..123
FT /note="9"
FT REPEAT 124..128
FT /note="10"
FT REPEAT 129..133
FT /note="11"
FT REPEAT 135..139
FT /note="12"
FT REPEAT 145..149
FT /note="13"
FT REPEAT 155..159
FT /note="14"
FT REPEAT 160..164
FT /note="15"
FT REPEAT 172..176
FT /note="16"
FT REPEAT 186..190
FT /note="17"
FT REPEAT 208..212
FT /note="18"
FT REPEAT 218..222
FT /note="19"
FT REPEAT 228..232
FT /note="20"
FT REPEAT 233..237
FT /note="21"
FT REPEAT 238..242
FT /note="22"
FT REPEAT 250..254
FT /note="23"
FT REPEAT 270..274
FT /note="24"
FT REPEAT 275..279
FT /note="25"
FT REPEAT 280..284
FT /note="26"
FT REPEAT 297..301
FT /note="27"
FT REPEAT 307..311
FT /note="28"
FT REPEAT 317..321
FT /note="29"
FT REPEAT 322..326
FT /note="30"
FT REPEAT 339..343
FT /note="31"
FT REPEAT 349..353
FT /note="33"
FT REPEAT 354..358
FT /note="34"
FT REPEAT 373..377
FT /note="35"
FT REPEAT 391..395
FT /note="36"
FT REGION 36..395
FT /note="36 X 5 AA repeats of C-C-X(3)"
FT VARIANT 62
FT /note="R -> C (in dbSNP:rs233285)"
FT /evidence="ECO:0000269|PubMed:15028290,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_017694"
FT VARIANT 159
FT /note="I -> V (in dbSNP:rs79048509)"
FT /evidence="ECO:0000269|PubMed:15028290"
FT /id="VAR_017695"
FT VARIANT 285
FT /note="G -> C (in dbSNP:rs396912)"
FT /id="VAR_062112"
SQ SEQUENCE 401 AA; 40429 MW; 0B3649E610CE78E7 CRC64;
MSVCSSDLSY SSRVCLPGSC DSCSDSWQVD DCPESCCEPP CCAPSCCAPA PCLSLVCTPV
SRVSSPCCPV TCEPSPCQSG CTSSCTPSCC QQSSCQLACC ASSPCQQACC VPVCCKTVCC
KPVCCVPVCC GDSSCCQQSS CQSACCTSSP CQQACCVPIC CKPVCSGISS SCCQQSSCVS
CVSSPCCQAV CEPSPCQSGC ISSCTPSCCQ QSSCQPACCT SSSCQQACCV PVCCKTVCCK
PVCSEDSSSC CQQSSCQPAC CTSSPCQQAC CVPVCCKPVC CKPVGSVPIC SGASSLCCQQ
SSCQPACCTS SQSQQGCCVP VCCKPVSCVP VCSGASSSCC QQSSCQPACC TTSCCRPSSS
VSLLCRPVCR PACCVPVPSC CAPTSSCQPS CCRPASCVSL L
