• Gene id: 56172

Gene Summary

• Gene Symbol: ANKH   Gene   UCSC   Ensembl
• Aliases: ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
• Gene name: ANKH inorganic pyrophosphate transport regulator
• Alternate names: progressive ankylosis protein homolog, ankylosis, progressive homolog,
• Gene location: 5p15.2 (14871777: 14704799)     Exons: 14     NC_000005.10
• Gene summary(Entrez): This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanis
• OMIM: 605145

Protein Summary

• Protein general information: Q9HCJ1  
  • Name: Progressive ankylosis protein homolog (ANK)
  • Length: 492  
  • Mass: 54241
  • Tissue specificity: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.
• Sequence:

  MVKFPALTHYWPLIRFLVPLGITNIAIDFGEQALNRGIAAVKEDAVEMLASYGLAYSLMKFFTGPMSDFKNVGLV
  FVNSKRDRTKAVLCMVVAGAIAAVFHTLIAYSDLGYYIINKLHHVDESVGSKTRRAFLYLAAFPFMDAMAWTHAG
  ILLKHKYSFLVGCASISDVIAQVVFVAILLHSHLECREPLLIPILSLYMGALVRCTTLCLGYYKNIHDIIPDRSG
  PELGGDATIRKMLSFWWPLALILATQRISRPIVNLFVSRDLGGSSAATEAVAILTATYPVGHMPYGWLTEIRAVY
  PAFDKNNPSNKLVSTSNTVTAAHIKKFTFVCMALSLTLCFVMFWTPNVSEKILIDIIGVDFAFAELCVVPLRIFS
  FFPVPVTVRAHLTGWLMTLKKTFVLAPSSVLRIIVLIASLVVLPYLGVHGATLGVGSLLAGFVGESTMVAIAACY
  VYRKQKKKMENESATEGEDSAMTDMPPTEEVTDIVEMREENE

• Structural information:
  • Interpro: IPR009887  
  • STRING: ENSP00000284268
• Other Databases: GeneCards:  ANKH  Malacards:  ANKH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005315	inorganic phosphate transmembrane transporter activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0030504	inorganic diphosphate transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	ISS	cellular component
GO:0015114	phosphate ion transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035435	phosphate ion transmembrane transport	IEA	biological process
GO:0006817	phosphate ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030504	inorganic diphosphate transmembrane transporter activity	TAS	molecular function
GO:0055085	transmembrane transport	TAS	biological process
GO:0030504	inorganic diphosphate transmembrane transporter activity	IEA	molecular function
GO:0030500	regulation of bone mineralization	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030505	inorganic diphosphate transport	IEA	biological process
GO:0030505	inorganic diphosphate transport	IEA	biological process
GO:0030505	inorganic diphosphate transport	IEA	biological process
GO:0030505	inorganic diphosphate transport	IEA	biological process
GO:0005315	inorganic phosphate transmembrane transporter activity	IDA	molecular function
GO:0030504	inorganic diphosphate transmembrane transporter activity	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0030500	regulation of bone mineralization	ISS	biological process
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0001501	skeletal system development	NAS	biological process
GO:0030500	regulation of bone mineralization	TAS	biological process
GO:0019867	outer membrane	TAS	cellular component
GO:0007626	locomotory behavior	NAS	biological process

Diseases

Associated diseases	References
Craniometaphyseal dysplasia	KEGG:H00491
Familial articular chondrocalcinosis	KEGG:H01236
Craniometaphyseal dysplasia	KEGG:H00491
Familial articular chondrocalcinosis	KEGG:H01236
Chondrocalcinosis	PMID:12297987
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq