• Gene id: 291

Gene Summary

• Gene Symbol: SLC25A4   Gene   UCSC   Ensembl
• Aliases: AAC1, ANT, ANT 1, ANT1, MTDPS12, MTDPS12A, PEO2, PEO3, PEOA2, T1
• Gene name: solute carrier family 25 member 4
• Alternate names: ADP/ATP translocase 1, ADP,ATP carrier protein 1, ADP,ATP carrier protein, heart/skeletal muscle, adenine nucleotide translocator 1 (skeletal muscle), heart/skeletal muscle ATP/ADP translocator, solute carrier family 25 (mitochondrial carrier; adenine nucleoti,
• Gene location: 4q35.1 (185143265: 185150381)     Exons: 4     NC_000004.12
• 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: 103220

SNPs

rs642321

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

NC_000005.10   g.31400896T>A
NC_000005.10   g.31400896T>C
NC_000005.9   g.31401003T>A
NC_000005.9   g.31401003T>C
NG_051574.1   g.136280A>T
NG_051574.1   g.136280A>G
NM_013235.5   c.*536A>T
NM_013235.5   c.*536A>G
NM_013235.4   c.*536A>T
NM_013235.4   c.*536A>G
NM_00110  

rs10719

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

NC_000005.10   g.31401340A>G
NC_000005.10   g.31401340A>T
NC_000005.9   g.31401447A>G
NC_000005.9   g.31401447A>T
NG_051574.1   g.135836T>C
NG_051574.1   g.135836T>A
NM_013235.5   c.*92T>C
NM_013235.5   c.*92T>A
NM_013235.4   c.*92T>C
NM_013235.4   c.*92T>A
NM_001100412  

rs700519

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

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs2656927

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

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

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

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs498422

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

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs2291109

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

NC_000005.10   g.31532322A>G
NC_000005.10   g.31532322A>T
NC_000005.9   g.31532429A>G
NC_000005.9   g.31532429A>T
NG_051574.1   g.4854T>C
NG_051574.1   g.4854T>A
NM_018356.3   c.-71A>G
NM_018356.3   c.-71A>T
NM_018356.2   c.-71A>G
NM_018356.2   c.-71A>T
XM_011514062.3   c

rs17409893

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

NC_000005.10   g.31532682A>G
NC_000005.9   g.31532789A>G
NG_051574.1   g.4494T>C|SEQ=[A/G]|GENE=DROSHA
C5orf22   55322

Protein Summary

• Protein general information: P12235  
  • Name: ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4)
  • Length: 298  
  • Mass: 33064
• Sequence:

  MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVRIPKEQGFLSFWRGNL
  ANVIRYFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKGAA
  QREFHGLGDCIIKIFKSDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAG
  LVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV

• Structural information:
  • Interpro: IPR002113  IPR002067  IPR018108  IPR023395  
  • Prosite: PS50920
  • DIP: 33116
  • STRING: ENSP00000281456
• Other Databases: GeneCards:  SLC25A4  Malacards:  SLC25A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005471	ATP:ADP antiporter activity	IBA	molecular function
GO:0015866	ADP transport	IMP	biological process
GO:0032592	integral component of mitochondrial membrane	ISS	cellular component
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:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015207	adenine transmembrane transporter activity	TAS	molecular function
GO:0000002	mitochondrial genome maintenance	TAS	biological process
GO:0005739	mitochondrion	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008637	apoptotic mitochondrial changes	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060546	negative regulation of necroptotic process	IMP	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0015853	adenine transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0015867	ATP transport	IEA	biological process
GO:0005739	mitochondrion	HDA	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
Mitochondrial DNA depletion syndrome	KEGG:H00469
Progressive external ophthalmoplegia	KEGG:H01118
Mitochondrial DNA depletion syndrome	KEGG:H00469
Progressive external ophthalmoplegia	KEGG:H01118
Dilated cardiomyopathy 1H	PMID:12056860
Alzheimer's disease	PMID:21958963
facioscapulohumeral muscular dystrophy	PMID:15551024
hypertrophic cardiomyopathy	PMID:16155110
chronic progressive external ophthalmoplegia	PMID:12565915
chronic progressive external ophthalmoplegia	PMID:15792871
mitochondrial myopathy	PMID:16155110
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray