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P78386

- KRT85_HUMAN

UniProt

P78386 - KRT85_HUMAN

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Protein

Keratin, type II cuticular Hb5

Gene

KRT85

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. structural molecule activity Source: ProtInc

GO - Biological processi

  1. epidermis development Source: ProtInc
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6462. KRT85.

Subcellular locationi

GO - Cellular componenti

  1. extracellular space Source: UniProt
  2. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → H in ECTD4. 1 Publication
Corresponds to variant rs61630004 [ dbSNP | Ensembl ].
VAR_029657

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Hypotrichosis

Organism-specific databases

MIMi602032. phenotype.
Orphaneti69084. Pure hair and nail ectodermal dysplasia.
PharmGKBiPA30251.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 507507Keratin, type II cuticular Hb5PRO_0000063702Add
BLAST

Proteomic databases

MaxQBiP78386.
PaxDbiP78386.
PeptideAtlasiP78386.
PRIDEiP78386.

PTM databases

PhosphoSiteiP78386.

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

BgeeiP78386.
CleanExiHS_KRT85.
ExpressionAtlasiP78386. baseline and differential.
GenevestigatoriP78386.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Protein-protein interaction databases

BioGridi110089. 19 interactions.
IntActiP78386. 10 interactions.
STRINGi9606.ENSP00000257901.

Structurei

3D structure databases

ProteinModelPortaliP78386.
SMRiP78386. Positions 123-271, 289-429.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 123123HeadAdd
BLAST
Regioni124 – 430307RodAdd
BLAST
Regioni124 – 15835Coil 1AAdd
BLAST
Regioni159 – 16810Linker 1
Regioni169 – 269101Coil 1BAdd
BLAST
Regioni270 – 28617Linker 12Add
BLAST
Regioni287 – 430144Coil 2Add
BLAST
Regioni431 – 50777TailAdd
BLAST

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG150019.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP78386.
KOiK07605.
OMAiSCGPRMA.
OrthoDBiEOG7B05CW.
PhylomeDBiP78386.
TreeFamiTF332742.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti155 – 1551W → V in CAB76830. (PubMed:10692104)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → H in ECTD4. 1 Publication
Corresponds to variant rs61630004 [ dbSNP | Ensembl ].
VAR_029657
Natural varianti155 – 1551W → L.
Corresponds to variant rs2852471 [ dbSNP | Ensembl ].
VAR_049804

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X99140 mRNA. Translation: CAA67577.1.
Y19210 Genomic DNA. Translation: CAB76830.1.
CCDSiCCDS8824.1.
RefSeqiNP_002274.1. NM_002283.3.
UniGeneiHs.182507.

Genome annotation databases

EnsembliENST00000257901; ENSP00000257901; ENSG00000135443.
GeneIDi3891.
KEGGihsa:3891.
UCSCiuc001sag.3. human.

Polymorphism databases

DMDMi48474780.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X99140 mRNA. Translation: CAA67577.1 .
Y19210 Genomic DNA. Translation: CAB76830.1 .
CCDSi CCDS8824.1.
RefSeqi NP_002274.1. NM_002283.3.
UniGenei Hs.182507.

3D structure databases

ProteinModelPortali P78386.
SMRi P78386. Positions 123-271, 289-429.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110089. 19 interactions.
IntActi P78386. 10 interactions.
STRINGi 9606.ENSP00000257901.

PTM databases

PhosphoSitei P78386.

Polymorphism databases

DMDMi 48474780.

Proteomic databases

MaxQBi P78386.
PaxDbi P78386.
PeptideAtlasi P78386.
PRIDEi P78386.

Protocols and materials databases

DNASUi 3891.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000257901 ; ENSP00000257901 ; ENSG00000135443 .
GeneIDi 3891.
KEGGi hsa:3891.
UCSCi uc001sag.3. human.

Organism-specific databases

CTDi 3891.
GeneCardsi GC12M052753.
HGNCi HGNC:6462. KRT85.
MIMi 602032. phenotype.
602767. gene.
neXtProti NX_P78386.
Orphaneti 69084. Pure hair and nail ectodermal dysplasia.
PharmGKBi PA30251.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG150019.
GeneTreei ENSGT00760000118796.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P78386.
KOi K07605.
OMAi SCGPRMA.
OrthoDBi EOG7B05CW.
PhylomeDBi P78386.
TreeFami TF332742.

Miscellaneous databases

GeneWikii KRT85.
GenomeRNAii 3891.
NextBioi 15277.
PROi P78386.
SOURCEi Search...

Gene expression databases

Bgeei P78386.
CleanExi HS_KRT85.
ExpressionAtlasi P78386. baseline and differential.
Genevestigatori P78386.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Sequences and differential expression of three novel human type-II hair keratins."
    Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.
    Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Characterization of a 300 kbp region of human DNA containing the type II hair keratin."
    Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.
    J. Invest. Dermatol. 114:464-472(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type."
    Naeem M., Wajid M., Lee K., Leal S.M., Ahmad W.
    J. Med. Genet. 43:274-279(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ECTD4 HIS-78.

Entry informationi

Entry nameiKRT85_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 116 of the entry and version 1 of the sequence. [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

Miscellaneous

There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3