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Q14532

- K1H2_HUMAN

UniProt

Q14532 - K1H2_HUMAN

Protein

Keratin, type I cuticular Ha2

Gene

KRT32

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei345 – 3451Stutter

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    GO - Biological processi

    1. epidermis development Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type I cuticular Ha2
    Alternative name(s):
    Hair keratin, type I Ha2
    Keratin-32
    Short name:
    K32
    Gene namesi
    Name:KRT32
    Synonyms:HHA2, HKA2, KRTHA2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:6449. KRT32.

    Subcellular locationi

    GO - Cellular componenti

    1. intermediate filament Source: UniProtKB-KW

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30238.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 448448Keratin, type I cuticular Ha2PRO_0000063686Add
    BLAST

    Proteomic databases

    MaxQBiQ14532.
    PaxDbiQ14532.
    PeptideAtlasiQ14532.
    PRIDEiQ14532.

    PTM databases

    PhosphoSiteiQ14532.

    Expressioni

    Tissue specificityi

    Restricted to the hair cuticle.

    Gene expression databases

    BgeeiQ14532.
    CleanExiHS_KRT32.
    GenevestigatoriQ14532.

    Organism-specific databases

    HPAiHPA040330.

    Interactioni

    Protein-protein interaction databases

    BioGridi110080. 3 interactions.
    IntActiQ14532. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14532.
    SMRiQ14532. Positions 99-131, 150-245, 314-401.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 9696HeadAdd
    BLAST
    Regioni97 – 403307RodAdd
    BLAST
    Regioni97 – 13135Coil 1AAdd
    BLAST
    Regioni132 – 14211Linker 1Add
    BLAST
    Regioni143 – 243101Coil 1BAdd
    BLAST
    Regioni244 – 25916Linker 12Add
    BLAST
    Regioni260 – 403144Coil 2Add
    BLAST
    Regioni404 – 44845TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG149251.
    HOGENOMiHOG000230975.
    HOVERGENiHBG013015.
    InParanoidiQ14532.
    KOiK07604.
    OMAiEEWFNMQ.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiQ14532.
    TreeFamiTF332742.

    Family and domain databases

    InterProiIPR009030. Growth_fac_rcpt_N_dom.
    IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR002957. Keratin_I.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01248. TYPE1KERATIN.
    SUPFAMiSSF57184. SSF57184. 2 hits.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q14532-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTSSCCVTNN LQASLKSCPR PASVCSSGVN CRPELCLGYV CQPMACLPSV    50
    CLPTTFRPAS CLSKTYLSSS CQAASGISGS MGPGSWYSEG AFNGNEKETM 100
    QFLNDRLASY LTRVRQLEQE NAELESRIQE ASHSQVLTMT PDYQSHFRTI 150
    EELQQKILCT KAENARMVVN IDNAKLAADD FRAKYEAELA MRQLVEADIN 200
    GLRRILDDLT LCKADLEAQV ESLKEELMCL KKNHEEEVGS LRCQLGDRLN 250
    IEVDAAPPVD LTRVLEEMRC QYEAMVEANR RDVEEWFNMQ MEELNQQVAT 300
    SSEQLQNYQS DIIDLRRTVN TLEIELQAQH SLRDSLENTL TESEARYSSQ 350
    LAQMQCMITN VEAQLAEIRA DLERQNQEYQ VLLDVRARLE GEINTYRSLL 400
    ENEDCKLPCN PCSTPSCTTC VPSPCVPRTV CVPRTVGMPC SPCPQGRY 448
    Length:448
    Mass (Da):50,343
    Last modified:November 2, 2010 - v3
    Checksum:iF223A4F828B7EACB
    GO

    Sequence cautioni

    The sequence CAA57179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti152 – 1521E → Q in CAA62284. (PubMed:8823373)Curated
    Sequence conflicti152 – 1521E → Q in CAA57179. (PubMed:7556444)Curated
    Sequence conflicti371 – 3711D → E in CAA62284. (PubMed:8823373)Curated
    Sequence conflicti371 – 3711D → E in CAA57179. (PubMed:7556444)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721Q → R.
    Corresponds to variant rs3744786 [ dbSNP | Ensembl ].
    VAR_056011
    Natural varianti89 – 891E → K.1 Publication
    VAR_069391
    Natural varianti151 – 1511E → D.2 Publications
    Corresponds to variant rs1111168 [ dbSNP | Ensembl ].
    VAR_060237
    Natural varianti171 – 1711I → T.
    Corresponds to variant rs2071560 [ dbSNP | Ensembl ].
    VAR_056012
    Natural varianti222 – 2221S → Y.
    Corresponds to variant rs2071561 [ dbSNP | Ensembl ].
    VAR_056013
    Natural varianti280 – 2801R → H.
    Corresponds to variant rs72830046 [ dbSNP | Ensembl ].
    VAR_060238
    Natural varianti339 – 3391T → M.
    Corresponds to variant rs16966929 [ dbSNP | Ensembl ].
    VAR_056014
    Natural varianti395 – 3951T → M.
    Corresponds to variant rs2071563 [ dbSNP | Ensembl ].
    VAR_056015
    Natural varianti402 – 4021N → S.2 Publications
    Corresponds to variant rs2604955 [ dbSNP | Ensembl ].
    VAR_060239
    Natural varianti427 – 4271P → T.2 Publications
    Corresponds to variant rs2604953 [ dbSNP | Ensembl ].
    VAR_060240
    Natural varianti428 – 4281R → C.
    Corresponds to variant rs9893787 [ dbSNP | Ensembl ].
    VAR_056016

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90761 Genomic DNA. Translation: CAA62284.1.
    AC019349 Genomic DNA. No translation available.
    X81419 mRNA. Translation: CAA57179.1. Different initiation.
    CCDSiCCDS11393.1.
    RefSeqiNP_002269.3. NM_002278.3.
    UniGeneiHs.41752.

    Genome annotation databases

    EnsembliENST00000225899; ENSP00000225899; ENSG00000108759.
    GeneIDi3882.
    KEGGihsa:3882.
    UCSCiuc002hwr.3. human.

    Polymorphism databases

    DMDMi311033432.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X90761 Genomic DNA. Translation: CAA62284.1 .
    AC019349 Genomic DNA. No translation available.
    X81419 mRNA. Translation: CAA57179.1 . Different initiation.
    CCDSi CCDS11393.1.
    RefSeqi NP_002269.3. NM_002278.3.
    UniGenei Hs.41752.

    3D structure databases

    ProteinModelPortali Q14532.
    SMRi Q14532. Positions 99-131, 150-245, 314-401.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110080. 3 interactions.
    IntActi Q14532. 1 interaction.

    PTM databases

    PhosphoSitei Q14532.

    Polymorphism databases

    DMDMi 311033432.

    Proteomic databases

    MaxQBi Q14532.
    PaxDbi Q14532.
    PeptideAtlasi Q14532.
    PRIDEi Q14532.

    Protocols and materials databases

    DNASUi 3882.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000225899 ; ENSP00000225899 ; ENSG00000108759 .
    GeneIDi 3882.
    KEGGi hsa:3882.
    UCSCi uc002hwr.3. human.

    Organism-specific databases

    CTDi 3882.
    GeneCardsi GC17M039615.
    H-InvDB HIX0202544.
    HGNCi HGNC:6449. KRT32.
    HPAi HPA040330.
    MIMi 602760. gene.
    neXtProti NX_Q14532.
    PharmGKBi PA30238.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149251.
    HOGENOMi HOG000230975.
    HOVERGENi HBG013015.
    InParanoidi Q14532.
    KOi K07604.
    OMAi EEWFNMQ.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi Q14532.
    TreeFami TF332742.

    Miscellaneous databases

    GeneWikii KRT32.
    GenomeRNAii 3882.
    NextBioi 15239.
    PROi Q14532.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q14532.
    CleanExi HS_KRT32.
    Genevestigatori Q14532.

    Family and domain databases

    InterProi IPR009030. Growth_fac_rcpt_N_dom.
    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.
    SUPFAMi SSF57184. SSF57184. 2 hits.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5."
      Rogers M.A., Winter H., Langbein L., Krieg T., Schweizer J.
      J. Invest. Dermatol. 107:633-638(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASP-151; SER-402 AND THR-427.
      Tissue: Hair.
    2. Rogers M.A.
      Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION TO N-TERMINUS.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Sequence data and chromosomal localization of human type I and type II hair keratin genes."
      Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P., Winter H., Schweizer J.
      Exp. Cell Res. 220:357-362(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-448, VARIANTS ASP-151; SER-402 AND THR-427.
      Tissue: Hair.
    5. Cited for: VARIANT LYS-89.

    Entry informationi

    Entry nameiK1H2_HUMAN
    AccessioniPrimary (citable) accession number: Q14532
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 110 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