UniProtKB - P78386 (KRT85_HUMAN)
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Protein
Keratin, type II cuticular Hb5
Gene
KRT85
Organism
Homo sapiens (Human)
Status
Functioni
Miscellaneous
There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).
GO - Molecular functioni
- structural molecule activity Source: ProtInc
GO - Biological processi
- cornification Source: Reactome
- epidermis development Source: ProtInc
- keratinization Source: Reactome
Enzyme and pathway databases
Reactomei | R-HSA-6805567. Keratinization. R-HSA-6809371. Formation of the cornified envelope. |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type II cuticular Hb5Alternative name(s): Hair keratin K2.12 Keratin-85 Short name: K85 Type II hair keratin Hb5 Type-II keratin Kb25 |
Gene namesi | Name:KRT85 Synonyms:KRTHB5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000135443.8. |
HGNCi | HGNC:6462. KRT85. |
MIMi | 602767. gene. |
neXtProti | NX_P78386. |
Pathology & Biotechi
Involvement in diseasei
Ectodermal dysplasia 4, hair/nail type (ECTD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive.
See also OMIM:602032Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029657 | 78 | R → H in ECTD4. 1 PublicationCorresponds to variant dbSNP:rs61630004Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, Ectodermal dysplasia, HypotrichosisOrganism-specific databases
DisGeNETi | 3891. |
MalaCardsi | KRT85. |
MIMi | 602032. phenotype. |
OpenTargetsi | ENSG00000135443. |
Orphaneti | 69084. Pure hair and nail ectodermal dysplasia. |
PharmGKBi | PA30251. |
Polymorphism and mutation databases
BioMutai | KRT85. |
DMDMi | 48474780. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063702 | 1 – 507 | Keratin, type II cuticular Hb5Add BLAST | 507 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 229 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
PaxDbi | P78386. |
PeptideAtlasi | P78386. |
PRIDEi | P78386. |
PTM databases
iPTMneti | P78386. |
PhosphoSitePlusi | P78386. |
SwissPalmi | P78386. |
Expressioni
Tissue specificityi
Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft.1 Publication
Gene expression databases
Bgeei | ENSG00000135443. |
CleanExi | HS_KRT85. |
ExpressionAtlasi | P78386. baseline and differential. |
Genevisiblei | P78386. HS. |
Organism-specific databases
HPAi | HPA049778. |
Interactioni
Subunit structurei
Heterotetramer of two type I and two type II keratins.
Binary interactionsi
Protein-protein interaction databases
BioGridi | 110089. 18 interactors. |
IntActi | P78386. 44 interactors. |
STRINGi | 9606.ENSP00000257901. |
Structurei
3D structure databases
ProteinModelPortali | P78386. |
SMRi | P78386. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 123 – 434 | IF rodPROSITE-ProRule annotationAdd BLAST | 312 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 123 | HeadAdd BLAST | 123 | |
Regioni | 124 – 158 | Coil 1AAdd BLAST | 35 | |
Regioni | 159 – 168 | Linker 1 | 10 | |
Regioni | 169 – 269 | Coil 1BAdd BLAST | 101 | |
Regioni | 270 – 286 | Linker 12Add BLAST | 17 | |
Regioni | 287 – 430 | Coil 2Add BLAST | 144 | |
Regioni | 431 – 507 | TailAdd BLAST | 77 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG410IH1H. Eukaryota. ENOG41113GZ. LUCA. |
GeneTreei | ENSGT00910000144006. |
HOGENOMi | HOG000230976. |
HOVERGENi | HBG013015. |
InParanoidi | P78386. |
KOi | K07605. |
OMAi | SCGPRMA. |
OrthoDBi | EOG091G06FG. |
PhylomeDBi | P78386. |
TreeFami | TF332742. |
Family and domain databases
InterProi | View protein in InterPro IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR032444. Keratin_2_head. IPR003054. Keratin_II. |
PANTHERi | PTHR23239. PTHR23239. 1 hit. |
Pfami | View protein in Pfam PF00038. Filament. 1 hit. PF16208. Keratin_2_head. 1 hit. |
PRINTSi | PR01276. TYPE2KERATIN. |
SMARTi | View protein in SMART SM01391. Filament. 1 hit. |
PROSITEi | View protein in PROSITE PS00226. IF_ROD_1. 1 hit. PS51842. IF_ROD_2. 1 hit. |
i Sequence
Sequence statusi: Complete.
P78386-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG
60 70 80 90 100
FGSRSLCNLG SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV
110 120 130 140 150
NESLLTPLNL EIDPNAQCVK QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL
160 170 180 190 200
LETKWQFYQN QRCCESNLEP LFSGYIETLR REAECVEADS GRLASELNHV
210 220 230 240 250
QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS DLEANVEALV
260 270 280 290 300
EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD
310 320 330 340 350
DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT
360 370 380 390 400
AEIENAKCQR AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA
410 420 430 440 450
CLLKEYQEVM NSKLGLDIEI ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG
460 470 480 490 500
GVSCGGLSYS TTPGRQITSG PSAIGGSITV VAPDSCAPCQ PRSSSFSCGS
SRSVRFA
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 155 | W → V in CAB76830 (PubMed:10692104).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_029657 | 78 | R → H in ECTD4. 1 PublicationCorresponds to variant dbSNP:rs61630004Ensembl. | 1 | |
Natural variantiVAR_049804 | 155 | W → L. Corresponds to variant dbSNP:rs2852471Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X99140 mRNA. Translation: CAA67577.1. Y19210 Genomic DNA. Translation: CAB76830.1. |
CCDSi | CCDS8824.1. |
RefSeqi | NP_001287739.1. NM_001300810.1. NP_002274.1. NM_002283.3. |
UniGenei | Hs.182507. |
Genome annotation databases
Ensembli | ENST00000257901; ENSP00000257901; ENSG00000135443. |
GeneIDi | 3891. |
KEGGi | hsa:3891. |
UCSCi | uc001sag.4. human. |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | KRT85_HUMAN | |
Accessioni | P78386Primary (citable) accession number: P78386 Secondary accession number(s): Q9NSB1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 29, 2004 |
Last sequence update: | May 1, 1997 | |
Last modified: | March 28, 2018 | |
This is version 145 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |