1. Gene
  2. SLC25A46 - solute carrier family 25 member 46 Gene

SLC25A46 - solute carrier family 25 member 46 Gene

Homo sapiens

Also known as PCH1E; HMSN6B

Gene ID: 91137 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Mito_carr: Mitochondrial carrier protein (314 - 414)

  • 0
  • 100
  • 200
  • 300
  • 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 Reference
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

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