KRT85_HUMAN
ID KRT85_HUMAN Reviewed; 507 AA.
AC P78386; Q9NSB1;
DT 29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1997, sequence version 1.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Keratin, type II cuticular Hb5;
DE AltName: Full=Hair keratin K2.12;
DE AltName: Full=Keratin-85;
DE Short=K85;
DE AltName: Full=Type II hair keratin Hb5;
DE AltName: Full=Type-II keratin Kb25;
GN Name=KRT85; Synonyms=KRTHB5;
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 TISSUE SPECIFICITY.
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 SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-229, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25114211; DOI=10.1073/pnas.1413825111;
RA Impens F., Radoshevich L., Cossart P., Ribet D.;
RT "Mapping of SUMO sites and analysis of SUMOylation changes induced by
RT external stimuli.";
RL Proc. Natl. Acad. Sci. U.S.A. 111:12432-12437(2014).
RN [4]
RP VARIANT ECTD4 HIS-78.
RX PubMed=16525032; DOI=10.1136/jmg.2005.033381;
RA Naeem M., Wajid M., Lee K., Leal S.M., Ahmad W.;
RT "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes
RT ectodermal dysplasia of hair and nail type.";
RL J. Med. Genet. 43:274-279(2006).
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC P78386; O95833: CLIC3; NbExp=3; IntAct=EBI-1049371, EBI-10192241;
CC P78386; Q02930-3: CREB5; NbExp=3; IntAct=EBI-1049371, EBI-10192698;
CC P78386; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1049371, EBI-3867333;
CC P78386; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-1049371, EBI-11975289;
CC P78386; Q9GZV7: HAPLN2; NbExp=3; IntAct=EBI-1049371, EBI-11956675;
CC P78386; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-1049371, EBI-6426443;
CC P78386; P19012: KRT15; NbExp=3; IntAct=EBI-1049371, EBI-739566;
CC P78386; P08779: KRT16; NbExp=3; IntAct=EBI-1049371, EBI-356410;
CC P78386; P08727: KRT19; NbExp=3; IntAct=EBI-1049371, EBI-742756;
CC P78386; Q7Z3Z0: KRT25; NbExp=5; IntAct=EBI-1049371, EBI-11980019;
CC P78386; Q7Z3Y9: KRT26; NbExp=3; IntAct=EBI-1049371, EBI-12084444;
CC P78386; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-1049371, EBI-3044087;
CC P78386; Q15323: KRT31; NbExp=3; IntAct=EBI-1049371, EBI-948001;
CC P78386; Q14525: KRT33B; NbExp=3; IntAct=EBI-1049371, EBI-1049638;
CC P78386; O76011: KRT34; NbExp=6; IntAct=EBI-1049371, EBI-1047093;
CC P78386; Q92764: KRT35; NbExp=3; IntAct=EBI-1049371, EBI-1058674;
CC P78386; O76013-2: KRT36; NbExp=3; IntAct=EBI-1049371, EBI-11958506;
CC P78386; O76014: KRT37; NbExp=5; IntAct=EBI-1049371, EBI-1045716;
CC P78386; O76015: KRT38; NbExp=3; IntAct=EBI-1049371, EBI-1047263;
CC P78386; Q6A163: KRT39; NbExp=3; IntAct=EBI-1049371, EBI-11958242;
CC P78386; Q6A162: KRT40; NbExp=3; IntAct=EBI-1049371, EBI-10171697;
CC P78386; Q68G74: LHX8; NbExp=3; IntAct=EBI-1049371, EBI-8474075;
CC P78386; P32242: OTX1; NbExp=3; IntAct=EBI-1049371, EBI-740446;
CC P78386; Q9NYJ8: TAB2; NbExp=3; IntAct=EBI-1049371, EBI-358708;
CC P78386; Q8N720: ZNF655; NbExp=3; IntAct=EBI-1049371, EBI-625509;
CC -!- TISSUE SPECIFICITY: Synthesis occurs immediately above a small
CC population of matrix cells at the base of the hair bulb and the
CC trichocytes lining the dermal papilla and extends upward through the
CC matrix and ends in the lower part of the cortex of the hair shaft.
CC {ECO:0000269|PubMed:9084137}.
CC -!- DISEASE: Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A
CC form of ectodermal dysplasia, a heterogeneous group of disorders due to
CC abnormal development of two or more ectodermal structures such as hair,
CC teeth, nails and sweat glands, with or without any additional clinical
CC sign. Each combination of clinical features represents a different type
CC of ectodermal dysplasia. ECTD4 is characterized by complete alopecia,
CC hypotricosis and nail dystrophy in all digits. There is no evidence of
CC any other abnormality. Inheritance can be autosomal dominant or
CC recessive. {ECO:0000269|PubMed:16525032}. Note=The disease is caused by
CC variants 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; X99140; CAA67577.1; -; mRNA.
DR EMBL; Y19210; CAB76830.1; -; Genomic_DNA.
DR CCDS; CCDS8824.1; -.
DR RefSeq; NP_001287739.1; NM_001300810.1.
DR RefSeq; NP_002274.1; NM_002283.3.
DR AlphaFoldDB; P78386; -.
DR SMR; P78386; -.
DR BioGRID; 110089; 49.
DR IntAct; P78386; 39.
DR STRING; 9606.ENSP00000257901; -.
DR ChEMBL; CHEMBL4523263; -.
DR GlyGen; P78386; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P78386; -.
DR MetOSite; P78386; -.
DR PhosphoSitePlus; P78386; -.
DR SwissPalm; P78386; -.
DR BioMuta; KRT85; -.
DR DMDM; 48474780; -.
DR jPOST; P78386; -.
DR MassIVE; P78386; -.
DR PaxDb; P78386; -.
DR PeptideAtlas; P78386; -.
DR PRIDE; P78386; -.
DR ProteomicsDB; 57610; -.
DR Antibodypedia; 56660; 45 antibodies from 17 providers.
DR DNASU; 3891; -.
DR Ensembl; ENST00000257901.7; ENSP00000257901.3; ENSG00000135443.8.
DR GeneID; 3891; -.
DR KEGG; hsa:3891; -.
DR MANE-Select; ENST00000257901.7; ENSP00000257901.3; NM_002283.4; NP_002274.1.
DR UCSC; uc001sag.4; human.
DR CTD; 3891; -.
DR DisGeNET; 3891; -.
DR GeneCards; KRT85; -.
DR HGNC; HGNC:6462; KRT85.
DR HPA; ENSG00000135443; Tissue enriched (skin).
DR MalaCards; KRT85; -.
DR MIM; 602032; phenotype.
DR MIM; 602767; gene.
DR neXtProt; NX_P78386; -.
DR OpenTargets; ENSG00000135443; -.
DR Orphanet; 69084; Pure hair and nail ectodermal dysplasia.
DR PharmGKB; PA30251; -.
DR VEuPathDB; HostDB:ENSG00000135443; -.
DR eggNOG; ENOG502SK5S; Eukaryota.
DR GeneTree; ENSGT00940000162337; -.
DR HOGENOM; CLU_012560_5_0_1; -.
DR InParanoid; P78386; -.
DR OMA; CRSYRIN; -.
DR OrthoDB; 904619at2759; -.
DR PhylomeDB; P78386; -.
DR TreeFam; TF332742; -.
DR PathwayCommons; P78386; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; P78386; -.
DR BioGRID-ORCS; 3891; 6 hits in 1060 CRISPR screens.
DR ChiTaRS; KRT85; human.
DR GeneWiki; KRT85; -.
DR GenomeRNAi; 3891; -.
DR Pharos; P78386; Tbio.
DR PRO; PR:P78386; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; P78386; protein.
DR Bgee; ENSG00000135443; Expressed in upper arm skin and 87 other tissues.
DR ExpressionAtlas; P78386; baseline and differential.
DR Genevisible; P78386; 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:0005198; F:structural molecule activity; TAS:ProtInc.
DR GO; GO:0008544; P:epidermis development; TAS:ProtInc.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
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 PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Disease variant; Ectodermal dysplasia; Hypotrichosis;
KW Intermediate filament; Isopeptide bond; Keratin; Reference proteome;
KW Ubl conjugation.
FT CHAIN 1..507
FT /note="Keratin, type II cuticular Hb5"
FT /id="PRO_0000063702"
FT DOMAIN 123..434
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..123
FT /note="Head"
FT REGION 124..158
FT /note="Coil 1A"
FT REGION 159..168
FT /note="Linker 1"
FT REGION 169..269
FT /note="Coil 1B"
FT REGION 270..286
FT /note="Linker 12"
FT REGION 287..430
FT /note="Coil 2"
FT REGION 431..507
FT /note="Tail"
FT CROSSLNK 229
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO1)"
FT /evidence="ECO:0007744|PubMed:25114211"
FT VARIANT 78
FT /note="R -> H (in ECTD4; dbSNP:rs61630004)"
FT /evidence="ECO:0000269|PubMed:16525032"
FT /id="VAR_029657"
FT VARIANT 155
FT /note="W -> L (in dbSNP:rs2852471)"
FT /id="VAR_049804"
FT CONFLICT 155
FT /note="W -> V (in Ref. 2; CAB76830)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 507 AA; 55802 MW; 0A3E5ABEAAF4C04D CRC64;
MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG FGSRSLCNLG
SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV NESLLTPLNL EIDPNAQCVK
QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL LETKWQFYQN QRCCESNLEP LFSGYIETLR
REAECVEADS GRLASELNHV QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS
DLEANVEALV EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD
DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT AEIENAKCQR
AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA CLLKEYQEVM NSKLGLDIEI
ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG GVSCGGLSYS TTPGRQITSG PSAIGGSITV
VAPDSCAPCQ PRSSSFSCGS SRSVRFA
