ID   KR221_HUMAN             Reviewed;          48 AA.
AC   Q3MIV0;
DT   21-FEB-2006, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 2.
DT   03-AUG-2022, entry version 95.
DE   RecName: Full=Keratin-associated protein 22-1;
GN   Name=KRTAP22-1; Synonyms=KAP22.1;
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 VARIANT HIS-26.
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], AND VARIANT HIS-26.
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 HIS-26.
RC   TISSUE=Cerebellum;
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. {ECO:0000250}.
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DR   EMBL; AB096953; BAE46368.1; -; mRNA.
DR   EMBL; AP001069; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC101682; AAI01683.1; -; mRNA.
DR   EMBL; BC101686; AAI01687.1; -; mRNA.
DR   CCDS; CCDS13601.1; -.
DR   RefSeq; NP_853651.1; NM_181620.1.
DR   AlphaFoldDB; Q3MIV0; -.
DR   BioGRID; 130662; 14.
DR   STRING; 9606.ENSP00000333887; -.
DR   BioMuta; KRTAP22-1; -.
DR   DMDM; 296434555; -.
DR   PaxDb; Q3MIV0; -.
DR   PRIDE; Q3MIV0; -.
DR   Antibodypedia; 48645; 8 antibodies from 3 providers.
DR   DNASU; 337979; -.
DR   Ensembl; ENST00000334680.3; ENSP00000333887.2; ENSG00000186924.3.
DR   GeneID; 337979; -.
DR   KEGG; hsa:337979; -.
DR   MANE-Select; ENST00000334680.3; ENSP00000333887.2; NM_181620.2; NP_853651.1.
DR   UCSC; uc011add.3; human.
DR   CTD; 337979; -.
DR   GeneCards; KRTAP22-1; -.
DR   HGNC; HGNC:18947; KRTAP22-1.
DR   HPA; ENSG00000186924; Not detected.
DR   neXtProt; NX_Q3MIV0; -.
DR   PharmGKB; PA134897377; -.
DR   VEuPathDB; HostDB:ENSG00000186924; -.
DR   eggNOG; ENOG502TEIF; Eukaryota.
DR   GeneTree; ENSGT00860000134312; -.
DR   HOGENOM; CLU_184630_3_1_1; -.
DR   InParanoid; Q3MIV0; -.
DR   PhylomeDB; Q3MIV0; -.
DR   TreeFam; TF341664; -.
DR   PathwayCommons; Q3MIV0; -.
DR   Reactome; R-HSA-6805567; Keratinization.
DR   BioGRID-ORCS; 337979; 11 hits in 1058 CRISPR screens.
DR   GenomeRNAi; 337979; -.
DR   Pharos; Q3MIV0; Tdark.
DR   PRO; PR:Q3MIV0; -.
DR   Proteomes; UP000005640; Chromosome 21.
DR   Bgee; ENSG00000186924; Expressed in blood and 9 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   3: Inferred from homology;
KW   Keratin; Reference proteome; Repeat.
FT   CHAIN           1..48
FT                   /note="Keratin-associated protein 22-1"
FT                   /id="PRO_0000223914"
FT   VARIANT         26
FT                   /note="L -> H (in dbSNP:rs198915)"
FT                   /evidence="ECO:0000269|PubMed:10830953,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT                   /id="VAR_060443"
FT   VARIANT         29
FT                   /note="Y -> C (in dbSNP:rs724849)"
FT                   /id="VAR_057650"
SQ   SEQUENCE   48 AA;  5275 MW;  6FA4E686FB7C9A65 CRC64;
     MSFDNNYHGG QGYAKGGLGC SYGCGLSGYG YACYCPWCYE RSWFSGCF