KT33A_HUMAN
ID KT33A_HUMAN Reviewed; 404 AA.
AC O76009; B2RA87; Q6NTB9; Q6ZZB9;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Keratin, type I cuticular Ha3-I;
DE AltName: Full=Hair keratin, type I Ha3-I;
DE AltName: Full=Keratin-33A;
DE Short=K33A;
GN Name=KRT33A; Synonyms=HHA3-I, HKA3A, KRTHA3A;
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 [GENOMIC DNA], AND TISSUE SPECIFICITY.
RX PubMed=9756910; DOI=10.1074/jbc.273.41.26683;
RA Rogers M.A., Winter H., Wolf C., Heck M., Schweizer J.;
RT "Characterization of a 190-kilobase pair domain of human type I hair
RT keratin genes.";
RL J. Biol. Chem. 273:26683-26691(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Scalp;
RX PubMed=15617563; DOI=10.1111/j.1432-0436.2004.07209006.x;
RA Rogers M.A., Winter H., Langbein L., Bleiler R., Schweizer J.;
RT "The human type I keratin gene family: characterization of new hair
RT follicle specific members and evaluation of the chromosome 17q21.2 gene
RT domain.";
RL Differentiation 72:527-540(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-270.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT VAL-270.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-270.
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 -!- TISSUE SPECIFICITY: Expressed in the hair follicles.
CC {ECO:0000269|PubMed:9756910}.
CC -!- MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I
CC (acidic) and II (neutral to basic).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
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DR EMBL; Y16788; CAA76384.1; -; Genomic_DNA.
DR EMBL; AJ633621; CAG17613.2; -; mRNA.
DR EMBL; AK314088; BAG36784.1; -; mRNA.
DR EMBL; AC003958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60727.1; -; Genomic_DNA.
DR EMBL; BC069135; AAH69135.1; -; mRNA.
DR CCDS; CCDS11388.1; -.
DR RefSeq; NP_004129.2; NM_004138.3.
DR AlphaFoldDB; O76009; -.
DR SMR; O76009; -.
DR BioGRID; 110081; 6.
DR IntAct; O76009; 2.
DR STRING; 9606.ENSP00000007735; -.
DR iPTMnet; O76009; -.
DR PhosphoSitePlus; O76009; -.
DR SwissPalm; O76009; -.
DR BioMuta; KRT33A; -.
DR jPOST; O76009; -.
DR MassIVE; O76009; -.
DR PaxDb; O76009; -.
DR PeptideAtlas; O76009; -.
DR PRIDE; O76009; -.
DR ProteomicsDB; 50342; -.
DR Antibodypedia; 66112; 95 antibodies from 19 providers.
DR DNASU; 3883; -.
DR Ensembl; ENST00000007735.4; ENSP00000007735.3; ENSG00000006059.4.
DR Ensembl; ENST00000576236.1; ENSP00000461221.1; ENSG00000261986.1.
DR GeneID; 3883; -.
DR KEGG; hsa:3883; -.
DR MANE-Select; ENST00000007735.4; ENSP00000007735.3; NM_004138.4; NP_004129.2.
DR UCSC; uc002hwk.3; human.
DR CTD; 3883; -.
DR GeneCards; KRT33A; -.
DR HGNC; HGNC:6450; KRT33A.
DR HPA; ENSG00000006059; Tissue enriched (skin).
DR MIM; 602761; gene.
DR neXtProt; NX_O76009; -.
DR OpenTargets; ENSG00000006059; -.
DR PharmGKB; PA30239; -.
DR VEuPathDB; HostDB:ENSG00000006059; -.
DR eggNOG; ENOG502SNBF; Eukaryota.
DR GeneTree; ENSGT00940000153980; -.
DR HOGENOM; CLU_012560_8_0_1; -.
DR InParanoid; O76009; -.
DR OMA; NACDTSI; -.
DR OrthoDB; 772040at2759; -.
DR PhylomeDB; O76009; -.
DR TreeFam; TF332742; -.
DR PathwayCommons; O76009; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; O76009; -.
DR BioGRID-ORCS; 3883; 17 hits in 1059 CRISPR screens.
DR GeneWiki; KRT33A; -.
DR GenomeRNAi; 3883; -.
DR Pharos; O76009; Tdark.
DR PRO; PR:O76009; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O76009; protein.
DR Bgee; ENSG00000006059; Expressed in esophagus mucosa and 34 other tissues.
DR Genevisible; O76009; HS.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR GO; GO:0030855; P:epithelial cell differentiation; IBA:GO_Central.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR002957; Keratin_I.
DR PANTHER; PTHR23239; PTHR23239; 1.
DR Pfam; PF00038; Filament; 1.
DR PRINTS; PR01248; TYPE1KERATIN.
DR SMART; SM01391; Filament; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 2: Evidence at transcript level;
KW Coiled coil; Intermediate filament; Keratin; Reference proteome.
FT CHAIN 1..404
FT /note="Keratin, type I cuticular Ha3-I"
FT /id="PRO_0000063688"
FT DOMAIN 56..367
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..56
FT /note="Head"
FT REGION 57..91
FT /note="Coil 1A"
FT REGION 92..102
FT /note="Linker 1"
FT REGION 103..203
FT /note="Coil 1B"
FT REGION 204..219
FT /note="Linker 12"
FT REGION 220..363
FT /note="Coil 2"
FT REGION 364..404
FT /note="Tail"
FT SITE 305
FT /note="Stutter"
FT VARIANT 270
FT /note="A -> V (in dbSNP:rs12937519)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5"
FT /id="VAR_054432"
FT CONFLICT 82
FT /note="A -> T (in Ref. 3; BAG36784)"
FT /evidence="ECO:0000305"
FT CONFLICT 94
FT /note="Q -> R (in Ref. 2; CAG17613)"
FT /evidence="ECO:0000305"
FT CONFLICT 153..154
FT /note="QL -> HV (in Ref. 1; CAA76384)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 404 AA; 45940 MW; 14B0C556E64485B0 CRC64;
MSYSCGLPSL SCRTSCSSRP CVPPSCHGCT LPGACNIPAN VSNCNWFCEG SFNGSEKETM
QFLNDRLASY LEKVRQLERD NAELENLIRE RSQQQEPLVC ASYQSYFKTI EELQQKILCS
KSENARLVVQ IDNAKLASDD FRTKYETELS LRQLVESDIN GLRRILDELT LCRSDLEAQV
ESLKEELLCL KQNHEQEVNT LRCQLGDRLN VEVDAAPTVD LNQVLNETRS QYEALVETNR
REVEQWFATQ TEELNKQVVS SSEQLQSYQA EIIELRRTVN ALEIELQAQH NLRDSLENTL
TESEARYSSQ LSQVQRLITN VESQLAEIRS DLERQNQEYQ VLLDVRARLE CEINTYRSLL
ESEDCKLPSN PCATTNACDK STGPCISNPC GLRARCGPCN TFGY
