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Protein

Keratin, type II cuticular Hb5

Gene

KRT85

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

ReactomeiR-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cuticular Hb5
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000135443.8
HGNCiHGNC:6462 KRT85
MIMi602767 gene
neXtProtiNX_P78386

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Intermediate filament, Keratin

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:602032
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02965778R → H in ECTD4. 1 PublicationCorresponds to variant dbSNP:rs61630004EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Hypotrichosis

Organism-specific databases

DisGeNETi3891
MalaCardsiKRT85
MIMi602032 phenotype
OpenTargetsiENSG00000135443
Orphaneti69084 Pure hair and nail ectodermal dysplasia
PharmGKBiPA30251

Polymorphism and mutation databases

BioMutaiKRT85
DMDMi48474780

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000637021 – 507Keratin, type II cuticular Hb5Add BLAST507

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki229Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiP78386
PeptideAtlasiP78386
PRIDEiP78386

PTM databases

iPTMnetiP78386
PhosphoSitePlusiP78386
SwissPalmiP78386

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

BgeeiENSG00000135443
CleanExiHS_KRT85
ExpressionAtlasiP78386 baseline and differential
GenevisibleiP78386 HS

Organism-specific databases

HPAiHPA049778

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110089, 18 interactors
IntActiP78386, 36 interactors
STRINGi9606.ENSP00000257901

Structurei

3D structure databases

ProteinModelPortaliP78386
SMRiP78386
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini123 – 434IF rodPROSITE-ProRule annotationAdd BLAST312

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 123HeadAdd BLAST123
Regioni124 – 158Coil 1AAdd BLAST35
Regioni159 – 168Linker 110
Regioni169 – 269Coil 1BAdd BLAST101
Regioni270 – 286Linker 12Add BLAST17
Regioni287 – 430Coil 2Add BLAST144
Regioni431 – 507TailAdd BLAST77

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IH1H Eukaryota
ENOG41113GZ LUCA
GeneTreeiENSGT00910000144006
HOGENOMiHOG000230976
HOVERGENiHBG013015
InParanoidiP78386
KOiK07605
OMAiSCGPRMA
OrthoDBiEOG091G06FG
PhylomeDBiP78386
TreeFamiTF332742

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

Sequencei

Sequence statusi: Complete.

P78386-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:507
Mass (Da):55,802
Last modified:May 1, 1997 - v1
Checksum:i0A3E5ABEAAF4C04D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti155W → V in CAB76830 (PubMed:10692104).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02965778R → H in ECTD4. 1 PublicationCorresponds to variant dbSNP:rs61630004EnsemblClinVar.1
Natural variantiVAR_049804155W → 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
CCDSiCCDS8824.1
RefSeqiNP_001287739.1, NM_001300810.1
NP_002274.1, NM_002283.3
UniGeneiHs.182507

Genome annotation databases

EnsembliENST00000257901; ENSP00000257901; ENSG00000135443
GeneIDi3891
KEGGihsa:3891
UCSCiuc001sag.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKRT85_HUMAN
AccessioniPrimary (citable) accession number: P78386
Secondary accession number(s): Q9NSB1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: May 1, 1997
Last modified: May 23, 2018
This is version 146 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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