KRT83_HUMAN
ID KRT83_HUMAN Reviewed; 493 AA.
AC P78385; A1A4S9; B2RC21; Q6NT21; Q9NSB3;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 16-DEC-2008, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Keratin, type II cuticular Hb3;
DE AltName: Full=Hair keratin K2.10;
DE AltName: Full=Keratin-83;
DE Short=K83;
DE AltName: Full=Type II hair keratin Hb3;
DE AltName: Full=Type-II keratin Kb23;
GN Name=KRT83; Synonyms=KRTHB3;
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 CYS-149;
RP MET-279 AND TYR-493.
RC TISSUE=Scalp;
RX PubMed=9084137; DOI=10.1046/j.1432-0436.1997.6130187.x;
RA Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.;
RT "Sequences and differential expression of three novel human type-II hair
RT keratins.";
RL Differentiation 61:187-194(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10692104; DOI=10.1046/j.1523-1747.2000.00910.x;
RA Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.;
RT "Characterization of a 300 kbp region of human DNA containing the type II
RT hair keratin.";
RL J. Invest. Dermatol. 114:464-472(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT TYR-493.
RC TISSUE=Cerebellum;
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 MRNA], AND VARIANTS CYS-149; MET-279 AND
RP TYR-493.
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).
RN [5]
RP INVOLVEMENT IN EKVP5.
RX PubMed=27965375; DOI=10.1136/jmedgenet-2016-104107;
RA Shah K., Ansar M., Mughal Z.U., Khan F.S., Ahmad W., Ferrara T.M.,
RA Spritz R.A.;
RT "and is allelic with dominant monilethrix.";
RL J. Med. Genet. 54:186-189(2017).
RN [6]
RP VARIANT MNLIX LYS-407.
RX PubMed=15744029; DOI=10.1136/jmg.2004.021030;
RA van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M.,
RA van Geel M.;
RT "A missense mutation in the type II hair keratin hHb3 is associated with
RT monilethrix.";
RL J. Med. Genet. 42:E19-E19(2005).
RN [7]
RP VARIANTS MNLIX LYS-407 AND LYS-418.
RX PubMed=25557232; DOI=10.1111/exd.12624;
RA van Steensel M., Vreeburg M., Urbina M.T., Lopez P., Morice-Picard F.,
RA van Geel M.;
RT "Novel KRT83 and KRT86 mutations associated with monilethrix.";
RL Exp. Dermatol. 24:222-224(2015).
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC P78385; O43184-4: ADAM12; NbExp=3; IntAct=EBI-10221390, EBI-12006944;
CC P78385; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-10221390, EBI-11954519;
CC P78385; Q6NUJ2: C11orf87; NbExp=3; IntAct=EBI-10221390, EBI-6660291;
CC P78385; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-10221390, EBI-11752486;
CC P78385; Q02930-3: CREB5; NbExp=3; IntAct=EBI-10221390, EBI-10192698;
CC P78385; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10221390, EBI-3867333;
CC P78385; P55040: GEM; NbExp=3; IntAct=EBI-10221390, EBI-744104;
CC P78385; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-10221390, EBI-11975289;
CC P78385; P09211: GSTP1; NbExp=3; IntAct=EBI-10221390, EBI-353467;
CC P78385; P49639: HOXA1; NbExp=8; IntAct=EBI-10221390, EBI-740785;
CC P78385; P19012: KRT15; NbExp=3; IntAct=EBI-10221390, EBI-739566;
CC P78385; P08779: KRT16; NbExp=3; IntAct=EBI-10221390, EBI-356410;
CC P78385; P08727: KRT19; NbExp=3; IntAct=EBI-10221390, EBI-742756;
CC P78385; Q7Z3Z0: KRT25; NbExp=3; IntAct=EBI-10221390, EBI-11980019;
CC P78385; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-10221390, EBI-3044087;
CC P78385; Q15323: KRT31; NbExp=6; IntAct=EBI-10221390, EBI-948001;
CC P78385; Q14525: KRT33B; NbExp=3; IntAct=EBI-10221390, EBI-1049638;
CC P78385; O76011: KRT34; NbExp=3; IntAct=EBI-10221390, EBI-1047093;
CC P78385; Q92764: KRT35; NbExp=3; IntAct=EBI-10221390, EBI-1058674;
CC P78385; O76014: KRT37; NbExp=3; IntAct=EBI-10221390, EBI-1045716;
CC P78385; O76015: KRT38; NbExp=8; IntAct=EBI-10221390, EBI-1047263;
CC P78385; Q6A163: KRT39; NbExp=3; IntAct=EBI-10221390, EBI-11958242;
CC P78385; Q6A162: KRT40; NbExp=3; IntAct=EBI-10221390, EBI-10171697;
CC P78385; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10221390, EBI-10172290;
CC P78385; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-10221390, EBI-10171774;
CC P78385; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-10221390, EBI-10172052;
CC P78385; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-10221390, EBI-1052037;
CC P78385; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-10221390, EBI-10241252;
CC P78385; Q9BYR6: KRTAP3-3; NbExp=5; IntAct=EBI-10221390, EBI-3957694;
CC P78385; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-10221390, EBI-11962084;
CC P78385; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10221390, EBI-16439278;
CC P78385; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10221390, EBI-945833;
CC P78385; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-10221390, EBI-22310682;
CC P78385; Q16656-4: NRF1; NbExp=3; IntAct=EBI-10221390, EBI-11742836;
CC P78385; O43482: OIP5; NbExp=3; IntAct=EBI-10221390, EBI-536879;
CC P78385; P32242: OTX1; NbExp=3; IntAct=EBI-10221390, EBI-740446;
CC P78385; P78337: PITX1; NbExp=3; IntAct=EBI-10221390, EBI-748265;
CC P78385; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-10221390, EBI-12014286;
CC P78385; Q12837: POU4F2; NbExp=3; IntAct=EBI-10221390, EBI-17236143;
CC P78385; Q8WTX9: ZDHHC1; NbExp=3; IntAct=EBI-10221390, EBI-2818796;
CC -!- TISSUE SPECIFICITY: Synthesis begins in the cortex 10-15 cell layers
CC above the apex of the dermal papilla and ends abruptly in the middle of
CC the cortex. {ECO:0000269|PubMed:9084137}.
CC -!- DISEASE: Monilethrix (MNLIX) [MIM:158000]: A disorder clinically
CC characterized by alopecia and follicular papules. Affected hairs have
CC uniform elliptical nodes of normal thickness and intermittent
CC constrictions, internodes at which the hair easily breaks. Usually only
CC the scalp is involved, but in severe forms, the secondary sexual hair,
CC eyebrows, eyelashes, and nails may also be affected.
CC {ECO:0000269|PubMed:15744029, ECO:0000269|PubMed:25557232}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Erythrokeratodermia variabilis et progressiva 5 (EKVP5)
CC [MIM:617756]: A form of erythrokeratodermia variabilis et progressiva,
CC a genodermatosis characterized by the coexistence of two independent
CC skin lesions: transient erythema and hyperkeratosis that is usually
CC localized but occasionally occurs in its generalized form. Clinical
CC presentation varies significantly within a family and from one family
CC to another. Palmoplantar keratoderma is present in around 50% of cases.
CC EKVP5 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:27965375}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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; X99141; CAA67578.1; -; mRNA.
DR EMBL; Y19208; CAB76828.1; -; Genomic_DNA.
DR EMBL; AK314904; BAG37418.1; -; mRNA.
DR EMBL; BC069546; AAH69546.1; -; mRNA.
DR EMBL; BC128063; AAI28064.1; -; mRNA.
DR CCDS; CCDS8823.1; -.
DR RefSeq; NP_002273.3; NM_002282.3.
DR AlphaFoldDB; P78385; -.
DR SMR; P78385; -.
DR BioGRID; 110087; 74.
DR IntAct; P78385; 42.
DR STRING; 9606.ENSP00000293670; -.
DR ChEMBL; CHEMBL4523262; -.
DR iPTMnet; P78385; -.
DR PhosphoSitePlus; P78385; -.
DR SwissPalm; P78385; -.
DR BioMuta; KRT83; -.
DR DMDM; 218511666; -.
DR jPOST; P78385; -.
DR MassIVE; P78385; -.
DR PaxDb; P78385; -.
DR PeptideAtlas; P78385; -.
DR PRIDE; P78385; -.
DR ProteomicsDB; 57609; -.
DR Antibodypedia; 26572; 64 antibodies from 15 providers.
DR DNASU; 3889; -.
DR Ensembl; ENST00000293670.3; ENSP00000293670.3; ENSG00000170523.3.
DR GeneID; 3889; -.
DR KEGG; hsa:3889; -.
DR MANE-Select; ENST00000293670.3; ENSP00000293670.3; NM_002282.3; NP_002273.3.
DR UCSC; uc001saf.2; human.
DR CTD; 3889; -.
DR DisGeNET; 3889; -.
DR GeneCards; KRT83; -.
DR HGNC; HGNC:6460; KRT83.
DR HPA; ENSG00000170523; Tissue enriched (skin).
DR MalaCards; KRT83; -.
DR MIM; 158000; phenotype.
DR MIM; 602765; gene.
DR MIM; 617756; phenotype.
DR neXtProt; NX_P78385; -.
DR OpenTargets; ENSG00000170523; -.
DR Orphanet; 573; Monilethrix.
DR Orphanet; 316; Progressive symmetric erythrokeratodermia.
DR PharmGKB; PA30249; -.
DR VEuPathDB; HostDB:ENSG00000170523; -.
DR eggNOG; ENOG502SKJW; Eukaryota.
DR GeneTree; ENSGT00940000161838; -.
DR HOGENOM; CLU_012560_5_0_1; -.
DR InParanoid; P78385; -.
DR OMA; CFSACGP; -.
DR OrthoDB; 557821at2759; -.
DR PhylomeDB; P78385; -.
DR TreeFam; TF317854; -.
DR PathwayCommons; P78385; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P78385; -.
DR BioGRID-ORCS; 3889; 20 hits in 1052 CRISPR screens.
DR ChiTaRS; KRT83; human.
DR GeneWiki; KRT83; -.
DR GenomeRNAi; 3889; -.
DR Pharos; P78385; Tbio.
DR PRO; PR:P78385; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P78385; protein.
DR Bgee; ENSG00000170523; Expressed in hair follicle and 76 other tissues.
DR Genevisible; P78385; HS.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0045095; C:keratin filament; IBA:GO_Central.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR GO; GO:0007568; P:aging; IDA:UniProtKB.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
DR SUPFAM; SSF57184; SSF57184; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Disease variant; Intermediate filament; Isopeptide bond;
KW Keratin; Palmoplantar keratoderma; Reference proteome; Ubl conjugation.
FT CHAIN 1..493
FT /note="Keratin, type II cuticular Hb3"
FT /id="PRO_0000063699"
FT DOMAIN 111..422
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..111
FT /note="Head"
FT REGION 112..146
FT /note="Coil 1A"
FT REGION 147..156
FT /note="Linker 1"
FT REGION 157..257
FT /note="Coil 1B"
FT REGION 258..274
FT /note="Linker 12"
FT REGION 275..418
FT /note="Coil 2"
FT REGION 419..493
FT /note="Tail"
FT CROSSLNK 217
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO1)"
FT /evidence="ECO:0000250|UniProtKB:P78386"
FT VARIANT 149
FT /note="R -> C (in dbSNP:rs2857663)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9084137"
FT /id="VAR_018119"
FT VARIANT 279
FT /note="I -> M (in dbSNP:rs2852464)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9084137"
FT /id="VAR_018120"
FT VARIANT 407
FT /note="E -> K (in MNLIX; dbSNP:rs57802288)"
FT /evidence="ECO:0000269|PubMed:15744029,
FT ECO:0000269|PubMed:25557232"
FT /id="VAR_023052"
FT VARIANT 418
FT /note="E -> K (in MNLIX; dbSNP:rs1438087533)"
FT /evidence="ECO:0000269|PubMed:25557232"
FT /id="VAR_073049"
FT VARIANT 493
FT /note="H -> Y (in dbSNP:rs2857671)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9084137"
FT /id="VAR_018121"
FT CONFLICT 67
FT /note="S -> D (in Ref. 1; CAA67578)"
FT /evidence="ECO:0000305"
FT CONFLICT 314
FT /note="I -> V (in Ref. 3; BAG37418)"
FT /evidence="ECO:0000305"
FT CONFLICT 473
FT /note="C -> R (in Ref. 3; BAG37418)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 493 AA; 54195 MW; 73BE2DA2C93F3EB6 CRC64;
MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF GSHSVCGGFR
AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI DPNAQCVKQE EKEQIKSLNS
RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE CCQSNLEPLF AGYIETLRRE AECVEADSGR
LASELNHVQE VLEGYKKKYE EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE
IDFLRRLYEE EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES
WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK LEAAVAQSEQ
QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS KLGLDIEIAT YRRLLEGEEQ
RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS RPVTGSVCSA PCNGNLVVST GLCKPCGQLN
TTCGGGSCGQ GRH
