KR212_HUMAN
ID KR212_HUMAN Reviewed; 83 AA.
AC Q3LI59;
DT 21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=Keratin-associated protein 21-2;
GN Name=KRTAP21-2; Synonyms=KAP21.2;
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].
RC TISSUE=Hair root;
RA Obayashi I., Shibuya K., Minoshima S., Kudoh J., Shimizu N.;
RT "Identification of complete keratin-associated protein (KAP) gene cluster
RT spanning 800 kb region on human chromosome 21q22.11.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
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).
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. {ECO:0000250}.
CC -!- INTERACTION:
CC Q3LI59; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-18395721, EBI-10173507;
CC Q3LI59; P0C7T5: ATXN1L; NbExp=3; IntAct=EBI-18395721, EBI-8624731;
CC Q3LI59; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-18395721, EBI-745073;
CC Q3LI59; P51800-3: CLCNKA; NbExp=3; IntAct=EBI-18395721, EBI-11980535;
CC Q3LI59; Q96MA1: DMRTB1; NbExp=3; IntAct=EBI-18395721, EBI-954466;
CC Q3LI59; Q12805: EFEMP1; NbExp=3; IntAct=EBI-18395721, EBI-536772;
CC Q3LI59; A4D161: FAM221A; NbExp=3; IntAct=EBI-18395721, EBI-11960181;
CC Q3LI59; O60548: FOXD2; NbExp=3; IntAct=EBI-18395721, EBI-17282008;
CC Q3LI59; P23769: GATA2; NbExp=3; IntAct=EBI-18395721, EBI-2806671;
CC Q3LI59; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-18395721, EBI-10176379;
CC Q3LI59; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-18395721, EBI-3957672;
CC Q3LI59; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-18395721, EBI-11962058;
CC Q3LI59; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-18395721, EBI-10246607;
CC Q3LI59; Q5TCM9: LCE5A; NbExp=3; IntAct=EBI-18395721, EBI-11955689;
CC Q3LI59; Q13064: MKRN3; NbExp=3; IntAct=EBI-18395721, EBI-2340269;
CC Q3LI59; Q9HB63: NTN4; NbExp=3; IntAct=EBI-18395721, EBI-743459;
CC Q3LI59; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-18395721, EBI-769257;
CC Q3LI59; Q12837: POU4F2; NbExp=3; IntAct=EBI-18395721, EBI-17236143;
CC Q3LI59; Q9NZ81: PRR13; NbExp=3; IntAct=EBI-18395721, EBI-740924;
CC Q3LI59; Q9H0F5: RNF38; NbExp=3; IntAct=EBI-18395721, EBI-2341200;
CC Q3LI59; Q7L0R7: RNF44; NbExp=3; IntAct=EBI-18395721, EBI-2845060;
CC Q3LI59; Q92922: SMARCC1; NbExp=3; IntAct=EBI-18395721, EBI-355653;
CC Q3LI59; Q16637: SMN2; NbExp=3; IntAct=EBI-18395721, EBI-395421;
CC Q3LI59; P09234: SNRPC; NbExp=3; IntAct=EBI-18395721, EBI-766589;
CC Q3LI59; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-18395721, EBI-11959123;
CC Q3LI59; Q9NQB0-10: TCF7L2; NbExp=3; IntAct=EBI-18395721, EBI-11746252;
CC Q3LI59; O95231: VENTX; NbExp=3; IntAct=EBI-18395721, EBI-10191303;
CC Q3LI59; Q15915: ZIC1; NbExp=3; IntAct=EBI-18395721, EBI-11963196;
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DR EMBL; AB096959; BAE46374.1; -; mRNA.
DR EMBL; AP000243; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS13605.1; -.
DR RefSeq; NP_853648.1; NM_181617.1.
DR AlphaFoldDB; Q3LI59; -.
DR BioGRID; 130661; 30.
DR IntAct; Q3LI59; 28.
DR STRING; 9606.ENSP00000334287; -.
DR iPTMnet; Q3LI59; -.
DR PhosphoSitePlus; Q3LI59; -.
DR BioMuta; KRTAP21-2; -.
DR MassIVE; Q3LI59; -.
DR PaxDb; Q3LI59; -.
DR PeptideAtlas; Q3LI59; -.
DR PRIDE; Q3LI59; -.
DR DNASU; 337978; -.
DR Ensembl; ENST00000333892.3; ENSP00000334287.2; ENSG00000187026.3.
DR GeneID; 337978; -.
DR KEGG; hsa:337978; -.
DR MANE-Select; ENST00000333892.3; ENSP00000334287.2; NM_181617.3; NP_853648.1.
DR UCSC; uc011adh.3; human.
DR CTD; 337978; -.
DR GeneCards; KRTAP21-2; -.
DR HGNC; HGNC:18946; KRTAP21-2.
DR HPA; ENSG00000187026; Tissue enhanced (testis).
DR neXtProt; NX_Q3LI59; -.
DR PharmGKB; PA134884584; -.
DR VEuPathDB; HostDB:ENSG00000187026; -.
DR eggNOG; ENOG502S2E1; Eukaryota.
DR GeneTree; ENSGT00840000130947; -.
DR HOGENOM; CLU_140099_1_0_1; -.
DR InParanoid; Q3LI59; -.
DR OMA; YSKGYSM; -.
DR PathwayCommons; Q3LI59; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; Q3LI59; -.
DR BioGRID-ORCS; 337978; 25 hits in 1034 CRISPR screens.
DR GenomeRNAi; 337978; -.
DR Pharos; Q3LI59; Tdark.
DR PRO; PR:Q3LI59; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; Q3LI59; protein.
DR Bgee; ENSG00000187026; Expressed in left testis and 19 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR InterPro; IPR021743; KRTAP_type6/8/16/19/20/21.
DR Pfam; PF11759; KRTAP; 1.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..83
FT /note="Keratin-associated protein 21-2"
FT /id="PRO_0000223913"
FT CONFLICT 9
FT /note="C -> S (in Ref. 1; BAE46374)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 83 AA; 8564 MW; C8041986173AB0ED CRC64;
MCCNYYRNCC GGCGYGSGWS SGCGYGCGYG CGYGSGCRYG SGYGTGCGYG CGYGSGCGYG
CGYSSSCCGY RPLCYRRCYS SCY
