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P78386 (KRT85_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT85
Synonyms:KRTHB5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length507 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Heterotetramer of two type I and two type II keratins.

Tissue specificity

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. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Miscellaneous

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

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
   Cellular componentIntermediate filament
Keratin
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Ectodermal dysplasia
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processepidermis development

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentextracellular space

Inferred from direct assay PubMed 23580065. Source: UniProt

keratin filament

Inferred from electronic annotation. Source: InterPro

   Molecular_functionstructural molecule activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 507507Keratin, type II cuticular Hb5
PRO_0000063702

Regions

Region1 – 123123Head
Region124 – 430307Rod
Region124 – 15835Coil 1A
Region159 – 16810Linker 1
Region169 – 269101Coil 1B
Region270 – 28617Linker 12
Region287 – 430144Coil 2
Region431 – 50777Tail

Natural variations

Natural variant781R → H in ECTD4. Ref.3
Corresponds to variant rs61630004 [ dbSNP | Ensembl ].
VAR_029657
Natural variant1551W → L.
Corresponds to variant rs2852471 [ dbSNP | Ensembl ].
VAR_049804

Experimental info

Sequence conflict1551W → V in CAB76830. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P78386 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 0A3E5ABEAAF4C04D

FASTA50755,802
        10         20         30         40         50         60 
MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG FGSRSLCNLG 

        70         80         90        100        110        120 
SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV NESLLTPLNL EIDPNAQCVK 

       130        140        150        160        170        180 
QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL LETKWQFYQN QRCCESNLEP LFSGYIETLR 

       190        200        210        220        230        240 
REAECVEADS GRLASELNHV QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS 

       250        260        270        280        290        300 
DLEANVEALV EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD 

       310        320        330        340        350        360 
DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT AEIENAKCQR 

       370        380        390        400        410        420 
AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA CLLKEYQEVM NSKLGLDIEI 

       430        440        450        460        470        480 
ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG GVSCGGLSYS TTPGRQITSG PSAIGGSITV 

       490        500 
VAPDSCAPCQ PRSSSFSCGS SRSVRFA 

« Hide

References

[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X99140 mRNA. Translation: CAA67577.1.
Y19210 Genomic DNA. Translation: CAB76830.1.
RefSeqNP_002274.1. NM_002283.3.
UniGeneHs.182507.

3D structure databases

ProteinModelPortalP78386.
SMRP78386. Positions 122-271, 289-429.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110089. 19 interactions.
IntActP78386. 10 interactions.
STRING9606.ENSP00000257901.

PTM databases

PhosphoSiteP78386.

Polymorphism databases

DMDM48474780.

Proteomic databases

PaxDbP78386.
PeptideAtlasP78386.
PRIDEP78386.

Protocols and materials databases

DNASU3891.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000257901; ENSP00000257901; ENSG00000135443.
GeneID3891.
KEGGhsa:3891.
UCSCuc001sag.3. human.

Organism-specific databases

CTD3891.
GeneCardsGC12M052753.
HGNCHGNC:6462. KRT85.
MIM602032. phenotype.
602767. gene.
neXtProtNX_P78386.
Orphanet69084. Pure hair and nail ectodermal dysplasia.
PharmGKBPA30251.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG150019.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidP78386.
KOK07605.
OMASCGPRMA.
OrthoDBEOG7B05CW.
PhylomeDBP78386.
TreeFamTF332742.

Gene expression databases

ArrayExpressP78386.
BgeeP78386.
CleanExHS_KRT85.
GenevestigatorP78386.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKRT85.
GenomeRNAi3891.
NextBio15277.
PROP78386.
SOURCESearch...

Entry information

Entry nameKRT85_HUMAN
AccessionPrimary (citable) accession number: P78386
Secondary accession number(s): Q9NSB1
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: May 1, 1997
Last modified: March 19, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM