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   24-JAN-2024, entry version 179.
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; 53.
DR   IntAct; P78386; 41.
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; 9606-ENSP00000257901; -.
DR   PeptideAtlas; P78386; -.
DR   ProteomicsDB; 57610; -.
DR   Antibodypedia; 56660; 58 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   AGR; HGNC:6462; -.
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; 4640531at2759; -.
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 1138 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 89 other cell types or tissues.
DR   ExpressionAtlas; P78386; baseline and differential.
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   Gene3D; 1.20.5.170; -; 1.
DR   Gene3D; 1.20.5.500; Single helix bin; 1.
DR   Gene3D; 1.20.5.1160; Vasodilator-stimulated phosphoprotein; 1.
DR   InterPro; IPR018039; IF_conserved.
DR   InterPro; IPR039008; IF_rod_dom.
DR   InterPro; IPR032444; Keratin_2_head.
DR   InterPro; IPR003054; Keratin_II.
DR   PANTHER; PTHR45616; GATA-TYPE DOMAIN-CONTAINING PROTEIN; 1.
DR   PANTHER; PTHR45616:SF43; KERATIN, TYPE II CUTICULAR HB5; 1.
DR   Pfam; PF00038; Filament; 1.
DR   Pfam; PF16208; Keratin_2_head; 1.
DR   PRINTS; PR01276; TYPE2KERATIN.
DR   SMART; SM01391; Filament; 1.
DR   SUPFAM; SSF64593; Intermediate filament protein, coiled coil region; 2.
DR   PROSITE; PS00226; IF_ROD_1; 1.
DR   PROSITE; PS51842; IF_ROD_2; 1.
DR   Genevisible; P78386; HS.
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
//