Entity Details

Primary name CMC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75746
EntryNameCMC1_HUMAN
FullNameCalcium-binding mitochondrial carrier protein Aralar1
TaxID9606
Evidenceevidence at protein level
Length678
SequenceStatuscomplete
DateCreated2001-02-21
DateModified2021-06-02

Ontological Relatives

GenesSLC25A12

GO terms

Show/Hide Table
GOName
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005509 calcium ion binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006094 gluconeogenesis
GO:0006537 glutamate biosynthetic process
GO:0009066 aspartate family amino acid metabolic process
GO:0010907 positive regulation of glucose metabolic process
GO:0015183 L-aspartate transmembrane transporter activity
GO:0015810 aspartate transmembrane transport
GO:0015813 L-glutamate transmembrane transport
GO:0016021 integral component of membrane
GO:0022857 transmembrane transporter activity
GO:0031643 positive regulation of myelination
GO:0042802 identical protein binding
GO:0043490 malate-aspartate shuttle
GO:0051592 response to calcium ion
GO:1904024 negative regulation of glucose catabolic process to lactate via pyruvate
GO:2001171 positive regulation of ATP biosynthetic process

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion inner membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR002048 EF-hand domainDomainDomain
IPR002067 Mitochondrial carrier proteinFamilyFamily
IPR011992 EF-hand domain pairFamilyHomologous superfamily
IPR018108 Mitochondrial substrate/solute carrierRepeatRepeat
IPR018247 EF-Hand 1, calcium-binding siteSiteBinding site
IPR023395 Mitochondrial carrier domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
612949 OMIMDevelopmental and epileptic encephalopathy 39 (DEE39)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00128 Aspartic acidDrugbanksmall molecule

Interactions

4 interactions