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SLC25A22 solute carrier family 25 member 22 [ Homo sapiens (human) ]

Gene ID: 79751, updated on 4-Nov-2018

Summary

Official Symbol
SLC25A22provided by HGNC
Official Full Name
solute carrier family 25 member 22provided by HGNC
Primary source
HGNC:HGNC:19954
See related
Ensembl:ENSG00000177542 MIM:609302; Vega:OTTHUMG00000133310
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GC1; GC-1; EIEE3; NET44
Summary
This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in brain (RPKM 22.0), testis (RPKM 5.8) and 24 other tissues See more
Orthologs

Genomic context

See SLC25A22 in Genome Data Viewer
Location:
11p15.5
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (790475..798281, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (790475..798269, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC171391 Neighboring gene cell cycle exit and neuronal differentiation 1 Neighboring gene proapoptotic nucleolar protein 1 Neighboring gene p53-induced death domain protein 1 Neighboring gene ribosomal protein lateral stalk subunit P2 Neighboring gene small nucleolar RNA, H/ACA box 52

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aspartate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
amino acid:proton symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
L-aspartate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-glutamate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-glutamate transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
aspartate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
malate-aspartate shuttle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
mitochondrial glutamate carrier 1
Names
glutamate/H(+) symporter 1
solute carrier family 25 (mitochondrial carrier: glutamate), member 22

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023407.1 RefSeqGene

    Range
    5001..12795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001191060.1NP_001177989.1  mitochondrial glutamate carrier 1

    See identical proteins and their annotated locations for NP_001177989.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AA723654, AK290481, AP006621
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    Q9H936
    Related
    ENSP00000437236.1, OTTHUMP00000229783, ENST00000531214.5, OTTHUMT00000384124
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  2. NM_001191061.1NP_001177990.1  mitochondrial glutamate carrier 1

    See identical proteins and their annotated locations for NP_001177990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AP006621, BC019033
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    Q9H936
    Related
    ENSP00000486058.1, OTTHUMP00000229965, ENST00000628067.2, OTTHUMT00000384459
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  3. NM_024698.5NP_078974.1  mitochondrial glutamate carrier 1

    See identical proteins and their annotated locations for NP_078974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AP006621, BC023545
    Consensus CDS
    CCDS7715.1
    UniProtKB/Swiss-Prot
    Q9H936
    Related
    ENSP00000322020.5, OTTHUMP00000164433, ENST00000320230.9, OTTHUMT00000257107
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    790475..798281 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520371.2XP_011518673.1  mitochondrial glutamate carrier 1 isoform X1

    See identical proteins and their annotated locations for XP_011518673.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  2. XM_024448687.1XP_024304455.1  mitochondrial glutamate carrier 1 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  3. XM_011520370.2XP_011518672.1  mitochondrial glutamate carrier 1 isoform X1

    See identical proteins and their annotated locations for XP_011518672.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  4. XM_024448689.1XP_024304457.1  mitochondrial glutamate carrier 1 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  5. XM_011520369.1XP_011518671.1  mitochondrial glutamate carrier 1 isoform X1

    See identical proteins and their annotated locations for XP_011518671.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  6. XM_024448688.1XP_024304456.1  mitochondrial glutamate carrier 1 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
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