• Gene id: 293

Gene Summary

• Gene Symbol: SLC25A6   Gene   UCSC   Ensembl
• Aliases: AAC3, ANT, ANT 2, ANT 3, ANT3, ANT3Y
• Gene name: solute carrier family 25 member 6
• Alternate names: ADP/ATP translocase 3, ADP,ATP carrier protein, ADP,ATP carrier protein 3, ADP,ATP carrier protein, liver, ADP/ATP translocator of liver, adenine nucleotide translocator 3, epididymis secretory sperm binding protein, solute carrier family 25 (mitochondrial carri,
• Gene location: Xp22.33 and Yp11.2 (1392112: 1386151)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix i
• OMIM: 300151403000

SNPs

rs173665

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

Protein Summary

• Protein general information: P12236  
  • Name: ADP/ATP translocase 3 (ADP,ATP carrier protein 3) (ADP,ATP carrier protein, isoform T2) (ANT 2) (Adenine nucleotide translocator 3) (ANT 3) (Solute carrier family 25 member 6) [Cleaved into: ADP/ATP translocase 3, N terminally processed]
  • Length: 298  
  • Mass: 32866
• Sequence:

  MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQIAADKQYKGIVDCIVRIPKEQGVLSFWRGNL
  ANVIRYFPTQALNFAFKDKYKQIFLGGVDKHTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKSGT
  EREFRGLGDCLVKITKSDGIRGLYQGFSVSVQGIIIYRAAYFGVYDTAKGMLPDPKNTHIVVSWMIAQTVTAVAG
  VVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWSNVLRGMGGAFVLVLYDELKKVI

• Structural information:
  • Interpro: IPR002113  IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • STRING: ENSP00000370808
• Other Databases: GeneCards:  SLC25A6  Malacards:  SLC25A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005471	ATP:ADP antiporter activity	IBA	molecular function
GO:0005347	ATP transmembrane transporter activity	IEA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0006626	protein targeting to mitochondrion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0015866	ADP transport	IEA	biological process
GO:0015866	ADP transport	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component
GO:0005471	ATP:ADP antiporter activity	NAS	molecular function
GO:0005744	TIM23 mitochondrial import inner membrane translocase complex	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa05166	Human T-cell leukemia virus 1 infection
hsa04020	Calcium signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04217	Necroptosis
hsa05164	Influenza A
hsa04218	Cellular senescence

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq