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P78386

- KRT85_HUMAN

UniProt

P78386 - KRT85_HUMAN

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
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. structural molecule activity Source: ProtInc

    GO - Biological processi

    1. epidermis development Source: ProtInc

    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

    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

    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

    ArrayExpressiP78386.
    BgeeiP78386.
    CleanExiHS_KRT85.
    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 122-271, 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.
    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

    MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG    50
    FGSRSLCNLG SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV 100
    NESLLTPLNL EIDPNAQCVK QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL 150
    LETKWQFYQN QRCCESNLEP LFSGYIETLR REAECVEADS GRLASELNHV 200
    QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS DLEANVEALV 250
    EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD 300
    DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT 350
    AEIENAKCQR AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA 400
    CLLKEYQEVM NSKLGLDIEI ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG 450
    GVSCGGLSYS TTPGRQITSG PSAIGGSITV VAPDSCAPCQ PRSSSFSCGS 500
    SRSVRFA 507
    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 122-271, 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.
    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

    ArrayExpressi P78386.
    Bgeei P78386.
    CleanExi HS_KRT85.
    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 1, 2014
    This is version 115 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