Format

Send to:

Choose Destination

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

Gene ID: 79751, updated on 26-May-2016
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 HPRD:15356; 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]
Orthologs
Location:
11p15.5
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (790475..798269, 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 uncharacterized LOC105369190 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ13044

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-glutamate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-glutamate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
L-glutamate transport IDA
Inferred from Direct Assay
more info
PubMed 
translation IBA
Inferred from Biological aspect of Ancestor
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 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
mitochondrial glutamate carrier 1
Names
glutamate/H(+) symporter 1
solute carrier family 25 (mitochondrial carrier: glutamate), member 22

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, OTTHUMP00000229783, ENST00000531214, OTTHUMT00000384124
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    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, OTTHUMP00000229965, ENST00000628067, OTTHUMT00000384459
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    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, OTTHUMP00000164433, ENST00000320230, OTTHUMT00000257107
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    790475..798269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520371.1XP_011518673.1  

    See identical proteins and their annotated locations for XP_011518673.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  2. XM_011520370.1XP_011518672.1  

    See identical proteins and their annotated locations for XP_011518672.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein
  3. XM_011520369.1XP_011518671.1  

    See identical proteins and their annotated locations for XP_011518671.1

    UniProtKB/Swiss-Prot
    Q9H936
    Conserved Domains (2) summary
    PTZ00169
    Location:3289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:498
    Mito_carr; Mitochondrial carrier protein

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    789304..797176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)