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Q9JHZ2

- ANKH_MOUSE

UniProt

Q9JHZ2 - ANKH_MOUSE

Protein

Progressive ankylosis protein

Gene

Ankh

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

    GO - Molecular functioni

    1. inorganic diphosphate transmembrane transporter activity Source: UniProtKB
    2. inorganic phosphate transmembrane transporter activity Source: Ensembl
    3. phosphate ion transmembrane transporter activity Source: InterPro

    GO - Biological processi

    1. inorganic diphosphate transport Source: GOC
    2. regulation of bone mineralization Source: UniProtKB

    Keywords - Biological processi

    Phosphate transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Progressive ankylosis protein
    Alternative name(s):
    Fn54 protein
    Gene namesi
    Name:Ankh
    Synonyms:Ank
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 15

    Organism-specific databases

    MGIiMGI:3045421. Ank.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB
    2. integral component of plasma membrane Source: MGI
    3. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Defects in Ankh are the cause of a generalized, progressive form of arthritis. In ank mice hydroxyapatite crystals develop in articular surfaces and synovial fluid leading to joint space narrowing, cartilage erosion, and formation of bony outgrowths or osteophytes that cause fusion and joint immobility and destruction.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 492492Progressive ankylosis proteinPRO_0000137468Add
    BLAST

    Proteomic databases

    MaxQBiQ9JHZ2.
    PaxDbiQ9JHZ2.
    PRIDEiQ9JHZ2.

    PTM databases

    PhosphoSiteiQ9JHZ2.

    Expressioni

    Tissue specificityi

    Expressed in heart, brain, liver, spleen, lung, muscle, and kidney of adult animals. Strongly expressed in the developing articular cartilage of joints in the shoulder, elbow, wrist, and digits of the embryo.

    Gene expression databases

    ArrayExpressiQ9JHZ2.
    BgeeiQ9JHZ2.
    CleanExiMM_ANK.
    GenevestigatoriQ9JHZ2.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9JHZ2.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 8585CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini107 – 13125ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini153 – 1586CytoplasmicSequence Analysis
    Topological domaini180 – 18910ExtracellularSequence Analysis
    Topological domaini211 – 326116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini348 – 3503ExtracellularSequence Analysis
    Topological domaini372 – 40332CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini427 – 4293ExtracellularSequence Analysis
    Topological domaini453 – 49240CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei86 – 10621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei132 – 15221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei159 – 17921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei190 – 21021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei327 – 34721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei351 – 37121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei404 – 42623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei430 – 45223HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the ANKH family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG19764.
    GeneTreeiENSGT00390000012189.
    HOGENOMiHOG000033943.
    HOVERGENiHBG018728.
    InParanoidiQ9JHZ2.
    OMAiYMGVHGA.
    OrthoDBiEOG7KH9JM.
    PhylomeDBiQ9JHZ2.
    TreeFamiTF333504.

    Family and domain databases

    InterProiIPR009887. ANKH.
    [Graphical view]
    PfamiPF07260. ANKH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9JHZ2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA    50
    SYGLAYSLMK FFTGPMSDFK NVGLVFVNSK RDRAKAVLCM VVAGAIAAVF 100
    HTLIAYSDLG YYIINKLHHV DESVGSKTRR AFLYLAAFPF MDAMAWTHAG 150
    ILLKHKYSFL VGCASISDVI AQVVFVAILL HSHLECREPL LIPILSLYMG 200
    ALVRCTTLCL GYYRNIHDII PDRSGPELGG DATIRKMLSF WWPLALILAT 250
    QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 300
    PAFDKNNPSN KLANTSNTVT SAHIKKFTFV CMALSLTLCF VMFWTPNVSE 350
    KILIDIIGVD FAFAELCVIP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL 400
    APSSVLRIIV LITSLVVLPY LGVHGATLGV GSLLAGFVGE STMVALAACY 450
    VYRKQKKKME NESATEGEDS AMTDMPPTEE VTDIVEMREE NE 492
    Length:492
    Mass (Da):54,298
    Last modified:October 1, 2000 - v1
    Checksum:i8792B248C875688E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2011A → V in strain: C3H. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF274752 mRNA. Translation: AAF88038.1.
    AF001532 mRNA. Translation: AAB65653.1.
    AF001533 mRNA. Translation: AAB65654.2.
    BC054379 mRNA. Translation: AAH54379.1.
    CCDSiCCDS27402.1.
    RefSeqiNP_065065.3. NM_020332.4.
    UniGeneiMm.265264.

    Genome annotation databases

    EnsembliENSMUST00000022875; ENSMUSP00000022875; ENSMUSG00000022265.
    GeneIDi11732.
    KEGGimmu:11732.
    UCSCiuc007vjo.2. mouse.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF274752 mRNA. Translation: AAF88038.1 .
    AF001532 mRNA. Translation: AAB65653.1 .
    AF001533 mRNA. Translation: AAB65654.2 .
    BC054379 mRNA. Translation: AAH54379.1 .
    CCDSi CCDS27402.1.
    RefSeqi NP_065065.3. NM_020332.4.
    UniGenei Mm.265264.

    3D structure databases

    ProteinModelPortali Q9JHZ2.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9JHZ2.

    Proteomic databases

    MaxQBi Q9JHZ2.
    PaxDbi Q9JHZ2.
    PRIDEi Q9JHZ2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000022875 ; ENSMUSP00000022875 ; ENSMUSG00000022265 .
    GeneIDi 11732.
    KEGGi mmu:11732.
    UCSCi uc007vjo.2. mouse.

    Organism-specific databases

    CTDi 11732.
    MGIi MGI:3045421. Ank.

    Phylogenomic databases

    eggNOGi NOG19764.
    GeneTreei ENSGT00390000012189.
    HOGENOMi HOG000033943.
    HOVERGENi HBG018728.
    InParanoidi Q9JHZ2.
    OMAi YMGVHGA.
    OrthoDBi EOG7KH9JM.
    PhylomeDBi Q9JHZ2.
    TreeFami TF333504.

    Miscellaneous databases

    NextBioi 279427.
    PROi Q9JHZ2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9JHZ2.
    Bgeei Q9JHZ2.
    CleanExi MM_ANK.
    Genevestigatori Q9JHZ2.

    Family and domain databases

    InterProi IPR009887. ANKH.
    [Graphical view ]
    Pfami PF07260. ANKH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Role of the mouse ank gene in control of tissue calcification and arthritis."
      Ho A.M., Johnson M.D., Kingsley D.M.
      Science 289:265-270(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-201.
      Strain: C57BL/6.
      Tissue: Brain.
    2. "Molecular cloning and characterization of a mitogen-inducible gene differentially expressed in androgen-dependent and independent prostate carcinoma cell lines."
      Guo Y., Hsu D.K.W., Alberts G.F., Feng S.-L., Copeland N.G., Gilbert D.J., Jenkins N.A., Peifley K.A., Winkles J.A.
      Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: BALB/c.
    3. "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].
      Tissue: Olfactory epithelium.

    Entry informationi

    Entry nameiANKH_MOUSE
    AccessioniPrimary (citable) accession number: Q9JHZ2
    Secondary accession number(s): O35138, O35139
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 84 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3