KR102_HUMAN
ID KR102_HUMAN Reviewed; 255 AA.
AC P60368; Q70LJ5;
DT 16-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-FEB-2004, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Keratin-associated protein 10-2;
DE AltName: Full=High sulfur keratin-associated protein 10.2;
DE AltName: Full=Keratin-associated protein 10.2;
DE AltName: Full=Keratin-associated protein 18-2;
DE AltName: Full=Keratin-associated protein 18.2;
GN Name=KRTAP10-2; Synonyms=KAP10.2, KAP18-2, KRTAP10.2, KRTAP18-2, KRTAP18.2;
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 [MRNA], TISSUE SPECIFICITY, AND VARIANTS ASP-15;
RP THR-107; PRO-117 AND GLY-241.
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 [MRNA] OF 219-255, AND TISSUE SPECIFICITY.
RC TISSUE=Scalp;
RX PubMed=14962103; DOI=10.1046/j.0022-202x.2003.22128.x;
RA Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S.,
RA Schweizer J.;
RT "Hair keratin associated proteins: characterization of a second high sulfur
RT KAP gene domain on human chromosome 21.";
RL J. Invest. Dermatol. 122:147-158(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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=1;
CC Comment=A number of isoforms are produced.;
CC Name=1;
CC IsoId=P60368-1; Sequence=Displayed;
CC -!- TISSUE SPECIFICITY: Restricted to a narrow region of the hair fiber
CC cuticle, lying approximately 20 cell layers above the apex of the
CC dermal papilla of the hair root; not detected in any other tissues.
CC {ECO:0000269|PubMed:14962103, ECO:0000269|PubMed:15028290}.
CC -!- SIMILARITY: Belongs to the KRTAP type 10 family. {ECO:0000305}.
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DR EMBL; AB076348; BAD01535.1; -; mRNA.
DR EMBL; AP001067; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AJ566381; CAD97462.1; -; mRNA.
DR CCDS; CCDS42955.1; -. [P60368-1]
DR RefSeq; NP_941966.1; NM_198693.3. [P60368-1]
DR AlphaFoldDB; P60368; -.
DR BioGRID; 132130; 1.
DR STRING; 9606.ENSP00000375479; -.
DR BioMuta; KRTAP10-2; -.
DR DMDM; 42558948; -.
DR MassIVE; P60368; -.
DR PaxDb; P60368; -.
DR PeptideAtlas; P60368; -.
DR PRIDE; P60368; -.
DR Antibodypedia; 24290; 7 antibodies from 3 providers.
DR DNASU; 386679; -.
DR Ensembl; ENST00000391621.1; ENSP00000375479.1; ENSG00000205445.3. [P60368-1]
DR GeneID; 386679; -.
DR KEGG; hsa:386679; -.
DR MANE-Select; ENST00000391621.1; ENSP00000375479.1; NM_198693.4; NP_941966.1.
DR UCSC; uc002zfi.2; human. [P60368-1]
DR CTD; 386679; -.
DR GeneCards; KRTAP10-2; -.
DR HGNC; HGNC:22967; KRTAP10-2.
DR HPA; ENSG00000205445; Tissue enriched (skin).
DR MalaCards; KRTAP10-2; -.
DR neXtProt; NX_P60368; -.
DR OpenTargets; ENSG00000205445; -.
DR PharmGKB; PA134989110; -.
DR VEuPathDB; HostDB:ENSG00000205445; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163258; -.
DR HOGENOM; CLU_062832_0_0_1; -.
DR InParanoid; P60368; -.
DR OMA; MCPVPCP; -.
DR OrthoDB; 1629708at2759; -.
DR TreeFam; TF351356; -.
DR PathwayCommons; P60368; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR BioGRID-ORCS; 386679; 17 hits in 990 CRISPR screens.
DR GenomeRNAi; 386679; -.
DR Pharos; P60368; Tdark.
DR PRO; PR:P60368; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P60368; protein.
DR Bgee; ENSG00000205445; Expressed in right uterine tube and 21 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; 5.
PE 2: Evidence at transcript level;
KW Alternative splicing; Keratin; Reference proteome; Repeat.
FT CHAIN 1..255
FT /note="Keratin-associated protein 10-2"
FT /id="PRO_0000185210"
FT REPEAT 26..30
FT /note="1"
FT REPEAT 36..40
FT /note="2"
FT REPEAT 57..61
FT /note="3"
FT REPEAT 79..83
FT /note="4"
FT REPEAT 89..93
FT /note="5"
FT REPEAT 99..103
FT /note="6"
FT REPEAT 104..108
FT /note="7"
FT REPEAT 109..113
FT /note="8"
FT REPEAT 114..118
FT /note="9"
FT REPEAT 120..124
FT /note="10"
FT REPEAT 130..134
FT /note="11"
FT REPEAT 145..149
FT /note="12"
FT REPEAT 150..154
FT /note="13"
FT REPEAT 162..166
FT /note="14"
FT REPEAT 172..176
FT /note="15"
FT REPEAT 182..186
FT /note="16"
FT REPEAT 187..191
FT /note="17"
FT REPEAT 192..196
FT /note="18"
FT REPEAT 197..201
FT /note="19"
FT REPEAT 209..213
FT /note="20"
FT REPEAT 219..223
FT /note="21"
FT REPEAT 224..228
FT /note="22"
FT REGION 26..228
FT /note="22 X 5 AA repeats of C-C-X(3)"
FT VARIANT 15
FT /note="N -> D (in dbSNP:rs233240)"
FT /evidence="ECO:0000269|PubMed:15028290"
FT /id="VAR_017690"
FT VARIANT 107
FT /note="P -> T (in dbSNP:rs478967)"
FT /evidence="ECO:0000269|PubMed:15028290"
FT /id="VAR_017691"
FT VARIANT 117
FT /note="A -> P (in dbSNP:rs233239)"
FT /evidence="ECO:0000269|PubMed:15028290"
FT /id="VAR_017692"
FT VARIANT 177
FT /note="P -> L (in dbSNP:rs2329834)"
FT /id="VAR_053462"
FT VARIANT 241
FT /note="R -> G (in dbSNP:rs146792277)"
FT /evidence="ECO:0000269|PubMed:15028290"
FT /id="VAR_017693"
SQ SEQUENCE 255 AA; 25616 MW; 13CCCC3B85126110 CRC64;
MAASTMSICS SACTNSWQVD DCPESCCELP CGTPSCCAPA PCLTLVCTPV SCVSSPCCQA
ACEPSACQSG CTSSCTPSCC QQSSCQPACC TSSPCQQACC VPVCCKPVCC VPVCCGASSC
CQQSSCQPAC CASSSCQQSC RVPVCCKAVC CVPTCSESSS SCCQQSSCQP ACCTSSPCQQ
SCCVSVCCKP VCCKSICCVP VCSGASSPCC QQSSCQPACC TSSCCRPSSS VSLLCRPVCS
RPASCSFSSG QKSSC
