SLC25A46 - solute carrier family 25 member 46 Gene

Also Known as PCH1E; HMSN6B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 91137

About SLC25A46

Cytogenetic location: 5q22.1 Genomic coordinates (GRCh38): 5:110,738,145-110,765,157 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 5 phenotypes. Ubiquitous expression in brain (RPKM 17.7), thyroid (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]

SLC25A46 Products (3)

mRNA	Protein	Name
NM_001303249.3	NP_001290178.1	mitochondrial outer membrane protein SLC25A46 isoform 2
NM_001303250.3	NP_001290179.1	mitochondrial outer membrane protein SLC25A46 isoform 3
NM_138773.4	NP_620128.1	mitochondrial outer membrane protein SLC25A46 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	27390132	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cristae formation	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in mitochondrial fission	IDA IDA: Inferred from direct assay	26168012	GOA
acts upstream of or within mitochondrial fission	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in mitochondrial fission	IMP IMP: Inferred from mutant phenotype	27543974	GOA
involved in phospholipid homeostasis	IMP IMP: Inferred from mutant phenotype	27390132	GOA
involved in protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	27390132	GOA
acts upstream of or within respiratory chain complex IV assembly	IMP IMP: Inferred from mutant phenotype	27390132	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	26168012	GOA
located in mitochondrial outer membrane	IMP IMP: Inferred from mutant phenotype	27390132	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A46 Protein Structure

Mito_carr

0
100
200
300
400
418 a.a.

Protein Preferred Names	Protein Names
mitochondrial outer membrane protein SLC25A46

SLC25A46 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SLC25A46	Q96AG3	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	HSD17B11	Homo sapiens	Q8NBQ5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	VMA21	Homo sapiens	Q3ZAQ7	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	VMA21	Homo sapiens	Q3ZAQ7	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	REEP2	Homo sapiens	Q9BRK0	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	ODF4	Homo sapiens	Q2M2E3	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	ODF4	Homo sapiens	Q2M2E3	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	SLC7A8	Homo sapiens	Q9UHI5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	MFSD14B	Homo sapiens	Q5SR56	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	MFSD14B	Homo sapiens	Q5SR56	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC66A2	Homo sapiens	Q8N2U9	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC66A2	Homo sapiens	Q8N2U9	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Array	25416956
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Y2H Prey Pooling	25416956
Intra	SLC25A46	Q96AG3	FHL3	Homo sapiens	Q13643	Validated Y2H	25416956
Intra	SLC25A46	Q96AG3	LEPROTL1	Homo sapiens	O95214	Y2H Prey Pooling	32296183
Intra	SLC25A46	Q96AG3	LEPROTL1	Homo sapiens	O95214	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Validated Y2H	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	SLC25A46	Q96AG3	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Neuropathy, Hereditary Motor And Sensory, Type Vib HMSN6B Hmsn Vib Cmt6b Neuropathy, Hereditary Motor And Sensory, Type 6b Charcot-Marie-Tooth Disease, Type 6b Neuropathy, Hereditary Motor And Sensory, 6b, With Optic Atrophy Charcot-Marie-Tooth Disease 6b Hereditary Motor And Sensory Neuropathy Type Vib Neuropathy, Motor And Sensory, Hereditary, Type Vib
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Spastic Ataxia	Spax Ataxia, Spastic
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Pontocerebellar Hypoplasia, Type 1d	PCH1D Pontocerebellar Hypoplasia Type 1d Pontocerebellar Hypoplasia 1d Doid:0112323 Hypoplasia, Pontocerebellar, Type 1d
Transitional Papilloma	Transitional Cell Papilloma Transitional Cell Papilloma, Benign
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13128	SLC25A46 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC25A46	MGD	MGI:1914703
Macaca mulatta	SLC25A46	VGNC	VGNC:77569
Felis catus	SLC25A46	VGNC	VGNC:102321
Rattus norvegicus	SLC25A46	RGD	RGD:1305072
Bos taurus	SLC25A46	VGNC	VGNC:34771
Canis familiaris	SLC25A46	VGNC	VGNC:46316
Others	SLC25A46	NCBI