Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9JHZ2 (ANKH_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Progressive ankylosis protein
Alternative name(s):
Fn54 protein
Gene names
Name:Ankh
Synonyms:Ank
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length492 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein Probable.

Tissue specificity

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.

Involvement in disease

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.

Sequence similarities

Belongs to the ANKH family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 492492Progressive ankylosis protein
PRO_0000137468

Regions

Topological domain1 – 8585Cytoplasmic Potential
Transmembrane86 – 10621Helical; Potential
Topological domain107 – 13125Extracellular Potential
Transmembrane132 – 15221Helical; Potential
Topological domain153 – 1586Cytoplasmic Potential
Transmembrane159 – 17921Helical; Potential
Topological domain180 – 18910Extracellular Potential
Transmembrane190 – 21021Helical; Potential
Topological domain211 – 326116Cytoplasmic Potential
Transmembrane327 – 34721Helical; Potential
Topological domain348 – 3503Extracellular Potential
Transmembrane351 – 37121Helical; Potential
Topological domain372 – 40332Cytoplasmic Potential
Transmembrane404 – 42623Helical; Potential
Topological domain427 – 4293Extracellular Potential
Transmembrane430 – 45223Helical; Potential
Topological domain453 – 49240Cytoplasmic Potential

Natural variations

Natural variant2011A → V in strain: C3H. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9JHZ2 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8792B248C875688E

FASTA49254,298
        10         20         30         40         50         60 
MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA SYGLAYSLMK 

        70         80         90        100        110        120 
FFTGPMSDFK NVGLVFVNSK RDRAKAVLCM VVAGAIAAVF HTLIAYSDLG YYIINKLHHV 

       130        140        150        160        170        180 
DESVGSKTRR AFLYLAAFPF MDAMAWTHAG ILLKHKYSFL VGCASISDVI AQVVFVAILL 

       190        200        210        220        230        240 
HSHLECREPL LIPILSLYMG ALVRCTTLCL GYYRNIHDII PDRSGPELGG DATIRKMLSF 

       250        260        270        280        290        300 
WWPLALILAT QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 

       310        320        330        340        350        360 
PAFDKNNPSN KLANTSNTVT SAHIKKFTFV CMALSLTLCF VMFWTPNVSE KILIDIIGVD 

       370        380        390        400        410        420 
FAFAELCVIP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL APSSVLRIIV LITSLVVLPY 

       430        440        450        460        470        480 
LGVHGATLGV GSLLAGFVGE STMVALAACY VYRKQKKKME NESATEGEDS AMTDMPPTEE 

       490 
VTDIVEMREE NE 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF274752 mRNA. Translation: AAF88038.1.
AF001532 mRNA. Translation: AAB65653.1.
AF001533 mRNA. Translation: AAB65654.2.
BC054379 mRNA. Translation: AAH54379.1.
RefSeqNP_065065.3. NM_020332.4.
UniGeneMm.265264.

3D structure databases

ProteinModelPortalQ9JHZ2.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9JHZ2.

Proteomic databases

PaxDbQ9JHZ2.
PRIDEQ9JHZ2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000022875; ENSMUSP00000022875; ENSMUSG00000022265.
GeneID11732.
KEGGmmu:11732.
UCSCuc007vjo.2. mouse.

Organism-specific databases

CTD11732.
MGIMGI:3045421. Ank.

Phylogenomic databases

eggNOGNOG19764.
GeneTreeENSGT00390000012189.
HOGENOMHOG000033943.
HOVERGENHBG018728.
InParanoidQ9JHZ2.
OMAYMGVHGA.
OrthoDBEOG7KH9JM.
PhylomeDBQ9JHZ2.
TreeFamTF333504.

Gene expression databases

ArrayExpressQ9JHZ2.
BgeeQ9JHZ2.
CleanExMM_ANK.
GenevestigatorQ9JHZ2.

Family and domain databases

InterProIPR009887. ANKH.
[Graphical view]
PfamPF07260. ANKH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio279427.
PROQ9JHZ2.
SOURCESearch...

Entry information

Entry nameANKH_MOUSE
AccessionPrimary (citable) accession number: Q9JHZ2
Secondary accession number(s): O35138, O35139
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 81 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot