• Gene id: 10463

Gene Summary

• Gene Symbol: SLC30A9   Gene   UCSC   Ensembl
• Aliases: BILAPES, C4orf1, GAC63, HUEL, ZNT9
• Gene name: solute carrier family 30 member 9
• Alternate names: zinc transporter 9, GRIP1-dependent nuclear receptor coactivator, expressed in human embryonic lung, human embryonic lung protein, solute carrier family 30 (zinc transporter), member 9, znT-9,
• Gene location: 4p13 (40755335: 40735883)     Exons: 14     NC_000015.10
• OMIM: 604604

Protein Summary

• Protein general information: Q6PML9  
  • Name: Zinc transporter 9 (ZnT 9) (Human embryonic lung protein) (HuEL) (Solute carrier family 30 member 9)
  • Length: 568  
  • Mass: 63515
  • Tissue specificity: Ubiquitously expressed in fetal and adult tissues and cancer cell lines. {ECO
• Sequence:

  MLPGLAAAAAHRCSWSSLCRLRLRCRAAACNPSDRQEWQNLVTFGSFSNMVPCSHPYIGTLSQVKLYSTNVQKEG
  QGSQTLRVEKVPSFETAEGIGTELKAPLKQEPLQVRVKAVLKKREYGSKYTQNNFITGVRAINEFCLKSSDLEQL
  RKIRRRSPHEDTESFTVYLRSDVEAKSLEVWGSPEALAREKKLRKEAEIEYRERLFRNQKILREYRDFLGNTKPR
  SRTASVFFKGPGKVVMVAICINGLNCFFKFLAWIYTGSASMFSEAIHSLSDTCNQGLLALGISKSVQTPDPSHPY
  GFSNMRYISSLISGVGIFMMGAGLSWYHGVMGLLHPQPIESLLWAYCILAGSLVSEGATLLVAVNELRRNARAKG
  MSFYKYVMESRDPSTNVILLEDTAAVLGVIIAATCMGLTSITGNPLYDSLGSLGVGTLLGMVSAFLIYTNTEALL
  GRSIQPEQVQRLTELLENDPSVRAIHDVKATDLGLGKVRFKAEVDFDGRVVTRSYLEKQDFDQMLQEIQEVKTPE
  ELETFMLKHGENIIDTLGAEVDRLEKELKKRNPEVRHVDLEIL

• Structural information:
  • Interpro: IPR002524  IPR027469  IPR009061  IPR040177  IPR037129  
  • PDB: 2ENK
  • PDBsum: 2ENK
  • STRING: ENSP00000264451
• Other Databases: GeneCards:  SLC30A9  Malacards:  SLC30A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0006882	cellular zinc ion homeostasis	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0003682	chromatin binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030374	nuclear receptor transcription coactivator activity	IBA	molecular function
GO:0016922	nuclear receptor binding	IBA	molecular function
GO:0006829	zinc ion transport	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0006882	cellular zinc ion homeostasis	IMP	biological process
GO:0006829	zinc ion transport	IMP	biological process
GO:0006812	cation transport	IEA	biological process
GO:0008324	cation transmembrane transporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006829	zinc ion transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0016922	nuclear receptor binding	IEA	molecular function
GO:0030374	nuclear receptor transcription coactivator activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray