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Q15323

- K1H1_HUMAN

UniProt

Q15323 - K1H1_HUMAN

Protein

Keratin, type I cuticular Ha1

Gene

KRT31

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 113 (01 Oct 2014)
      Sequence version 3 (14 Oct 2008)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei305 – 3051Stutter

    GO - Molecular functioni

    1. structural constituent of cytoskeleton Source: ProtInc

    GO - Biological processi

    1. epidermis development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cuticular Ha1
    Alternative name(s):
    Hair keratin, type I Ha1
    Keratin-31
    Short name:
    K31
    Gene namesi
    Name:KRT31
    Synonyms:HHA1, HKA1, KRTHA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6448. KRT31.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. intermediate filament Source: ProtInc

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30237.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 416416Keratin, type I cuticular Ha1PRO_0000063684Add
    BLAST

    Proteomic databases

    MaxQBiQ15323.
    PaxDbiQ15323.
    PRIDEiQ15323.

    PTM databases

    PhosphoSiteiQ15323.

    Expressioni

    Tissue specificityi

    Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla.2 Publications

    Gene expression databases

    ArrayExpressiQ15323.
    BgeeiQ15323.
    CleanExiHS_KRT31.
    GenevestigatoriQ15323.

    Organism-specific databases

    HPAiHPA049550.

    Interactioni

    Protein-protein interaction databases

    BioGridi110079. 18 interactions.
    IntActiQ15323. 9 interactions.
    MINTiMINT-2860287.
    STRINGi9606.ENSP00000251645.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15323.
    SMRiQ15323. Positions 106-204, 274-361.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 5656HeadAdd
    BLAST
    Regioni57 – 363307RodAdd
    BLAST
    Regioni57 – 9135Coil 1AAdd
    BLAST
    Regioni92 – 10211Linker 1Add
    BLAST
    Regioni103 – 203101Coil 1BAdd
    BLAST
    Regioni204 – 21916Linker 12Add
    BLAST
    Regioni220 – 363144Coil 2Add
    BLAST
    Regioni364 – 41653TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG321598.
    HOGENOMiHOG000230975.
    HOVERGENiHBG013015.
    InParanoidiQ15323.
    KOiK07604.
    OMAiTKYHTEL.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiQ15323.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15323-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPYNFCLPSL SCRTSCSSRP CVPPSCHSCT LPGACNIPAN VSNCNWFCEG    50
    SFNGSEKETM QFLNDRLASY LEKVRQLERD NAELENLIRE RSQQQEPLLC 100
    PSYQSYFKTI EELQQKILCT KSENARLVVQ IDNAKLAADD FRTKYQTELS 150
    LRQLVESDIN GLRRILDELT LCKSDLEAQV ESLKEELLCL KSNHEQEVNT 200
    LRCQLGDRLN VEVDAAPTVD LNRVLNETRS QYEALVETNR REVEQWFTTQ 250
    TEELNKQVVS SSEQLQSYQA EIIELRRTVN ALEIELQAQH NLRDSLENTL 300
    TESEARYSSQ LSQVQSLITN VESQLAEIRS DLERQNQEYQ VLLDVRARLE 350
    CEINTYRSLL ESEDCNLPSN PCATTNACSK PIGPCLSNPC TSCVPPAPCT 400
    PCAPRPRCGP CNSFVR 416
    Length:416
    Mass (Da):47,237
    Last modified:October 14, 2008 - v3
    Checksum:iC284DD33A4896009
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti153 – 1542QL → HV in CAA60378. (PubMed:7578244)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti39 – 391A → G.
    Corresponds to variant rs6503628 [ dbSNP | Ensembl ].
    VAR_046989
    Natural varianti82 – 821A → V.
    Corresponds to variant rs6503627 [ dbSNP | Ensembl ].
    VAR_046990
    Natural varianti377 – 3771A → V.
    Corresponds to variant rs34293483 [ dbSNP | Ensembl ].
    VAR_046991

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86570 mRNA. Translation: CAA60378.1.
    Y16787 Genomic DNA. Translation: CAA76383.1.
    CH471152 Genomic DNA. Translation: EAW60730.1.
    BC114468 mRNA. Translation: AAI14469.1.
    CCDSiCCDS11391.1.
    PIRiS60034.
    RefSeqiNP_002268.2. NM_002277.2.
    UniGeneiHs.41696.

    Genome annotation databases

    EnsembliENST00000251645; ENSP00000251645; ENSG00000094796.
    ENST00000573281; ENSP00000460739; ENSG00000262993.
    GeneIDi3881.
    KEGGihsa:3881.
    UCSCiuc002hwn.3. human.

    Polymorphism databases

    DMDMi209572740.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86570 mRNA. Translation: CAA60378.1 .
    Y16787 Genomic DNA. Translation: CAA76383.1 .
    CH471152 Genomic DNA. Translation: EAW60730.1 .
    BC114468 mRNA. Translation: AAI14469.1 .
    CCDSi CCDS11391.1.
    PIRi S60034.
    RefSeqi NP_002268.2. NM_002277.2.
    UniGenei Hs.41696.

    3D structure databases

    ProteinModelPortali Q15323.
    SMRi Q15323. Positions 106-204, 274-361.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110079. 18 interactions.
    IntActi Q15323. 9 interactions.
    MINTi MINT-2860287.
    STRINGi 9606.ENSP00000251645.

    PTM databases

    PhosphoSitei Q15323.

    Polymorphism databases

    DMDMi 209572740.

    Proteomic databases

    MaxQBi Q15323.
    PaxDbi Q15323.
    PRIDEi Q15323.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251645 ; ENSP00000251645 ; ENSG00000094796 .
    ENST00000573281 ; ENSP00000460739 ; ENSG00000262993 .
    GeneIDi 3881.
    KEGGi hsa:3881.
    UCSCi uc002hwn.3. human.

    Organism-specific databases

    CTDi 3881.
    GeneCardsi GC17M039549.
    H-InvDB HIX0039252.
    HGNCi HGNC:6448. KRT31.
    HPAi HPA049550.
    MIMi 601077. gene.
    neXtProti NX_Q15323.
    PharmGKBi PA30237.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321598.
    HOGENOMi HOG000230975.
    HOVERGENi HBG013015.
    InParanoidi Q15323.
    KOi K07604.
    OMAi TKYHTEL.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi Q15323.
    TreeFami TF332742.

    Miscellaneous databases

    GeneWikii KRT31.
    GenomeRNAii 3881.
    NextBioi 15235.
    PROi Q15323.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15323.
    Bgeei Q15323.
    CleanExi HS_KRT31.
    Genevestigatori Q15323.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01248. TYPE1KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Hair.
    2. Rogers M.A.
      Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    3. "Characterization of a 190-kilobase pair domain of human type I hair keratin genes."
      Rogers M.A., Winter H., Wolf C., Heck M., Schweizer J.
      J. Biol. Chem. 273:26683-26691(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
      Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
      J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiK1H1_HUMAN
    AccessioniPrimary (citable) accession number: Q15323
    Secondary accession number(s): Q9UE12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: October 14, 2008
    Last modified: October 1, 2014
    This is version 113 of the entry and version 3 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 17
      Human chromosome 17: 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