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Q9JHZ2

- ANKH_MOUSE

UniProt

Q9JHZ2 - ANKH_MOUSE

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Protein

Progressive ankylosis protein

Gene
Ankh, Ank
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8585Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei86 – 10621Helical; Reviewed predictionAdd
BLAST
Topological domaini107 – 13125Extracellular Reviewed predictionAdd
BLAST
Transmembranei132 – 15221Helical; Reviewed predictionAdd
BLAST
Topological domaini153 – 1586Cytoplasmic Reviewed prediction
Transmembranei159 – 17921Helical; Reviewed predictionAdd
BLAST
Topological domaini180 – 18910Extracellular Reviewed prediction
Transmembranei190 – 21021Helical; Reviewed predictionAdd
BLAST
Topological domaini211 – 326116Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei327 – 34721Helical; Reviewed predictionAdd
BLAST
Topological domaini348 – 3503Extracellular Reviewed prediction
Transmembranei351 – 37121Helical; Reviewed predictionAdd
BLAST
Topological domaini372 – 40332Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei404 – 42623Helical; Reviewed predictionAdd
BLAST
Topological domaini427 – 4293Extracellular Reviewed prediction
Transmembranei430 – 45223Helical; Reviewed predictionAdd
BLAST
Topological domaini453 – 49240Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the ANKH family.

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 83 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

Similar proteinsi