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SLC25A39 solute carrier family 25 member 39 [ Homo sapiens (human) ]

Gene ID: 51629, updated on 22-Sep-2022

Summary

Official Symbol
SLC25A39provided by HGNC
Official Full Name
solute carrier family 25 member 39provided by HGNC
Primary source
HGNC:HGNC:24279
See related
Ensembl:ENSG00000013306 MIM:610820; AllianceGenome:HGNC:24279
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
CGI69; CGI-69
Summary
This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in bone marrow (RPKM 112.9), kidney (RPKM 47.3) and 25 other tissues See more
Orthologs
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Genomic context

See SLC25A39 in Genome Data Viewer
Location:
17q21.31
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44319628..44324823, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45172706..45177901, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42396996..42402191, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene RUNDC3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 453, pseudogene Neighboring gene RUN domain containing 3A Neighboring gene uncharacterized LOC124904009 Neighboring gene CRISPRi-validated cis-regulatory element chr17.2878 Neighboring gene granulin precursor

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22407

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in glutathione import into mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in heme biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
probable mitochondrial glutathione transporter SLC25A39

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001143780.3NP_001137252.1  probable mitochondrial glutathione transporter SLC25A39 isoform a

    See identical proteins and their annotated locations for NP_001137252.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AK289357, BC096819
    Consensus CDS
    CCDS45700.1
    UniProtKB/Swiss-Prot
    Q9BZJ4, Q9Y379
    Related
    ENSP00000366299.4, ENST00000377095.10
    Conserved Domains (1) summary
    pfam00153
    Location:251350
    Mito_carr; Mitochondrial carrier protein
  2. NM_001321240.2NP_001308169.1  probable mitochondrial glutathione transporter SLC25A39 isoform c

    Status: REVIEWED

    Source sequence(s)
    AK294085, BU678976
    Consensus CDS
    CCDS82138.1
    UniProtKB/TrEMBL
    B4DFG5
    Related
    ENSP00000444540.1, ENST00000537904.6
    Conserved Domains (2) summary
    PTZ00169
    Location:16308
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:9129
    Mito_carr; Mitochondrial carrier protein
  3. NM_001321241.2NP_001308170.1  probable mitochondrial glutathione transporter SLC25A39 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC003043, BU678976, CB960224
    Conserved Domains (1) summary
    pfam00153
    Location:9144
    Mito_carr; Mitochondrial carrier protein
  4. NM_001366726.1NP_001353655.1  probable mitochondrial glutathione transporter SLC25A39 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC003043
    Conserved Domains (1) summary
    pfam00153
    Location:150249
    Mito_carr; Mitochondrial carrier protein
  5. NM_016016.4NP_057100.1  probable mitochondrial glutathione transporter SLC25A39 isoform b

    See identical proteins and their annotated locations for NP_057100.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The encoded isoform (b) is shorter but has the same N- and C-termini compared to isoform a.
    Source sequence(s)
    BC001398, CB960224
    Consensus CDS
    CCDS11482.1
    UniProtKB/Swiss-Prot
    Q9BZJ4
    Related
    ENSP00000225308.8, ENST00000225308.12
    Conserved Domains (1) summary
    pfam00153
    Location:9144
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_159401.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC003043
  2. NR_159402.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC003043
  3. NR_159403.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC003043
  4. NR_159404.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC003043
  5. NR_159405.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC003043

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44319628..44324823 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524880.4XP_011523182.1  probable mitochondrial glutathione transporter SLC25A39 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:257356
    Mito_carr; Mitochondrial carrier protein
  2. XM_047436237.1XP_047292193.1  probable mitochondrial glutathione transporter SLC25A39 isoform X4

    UniProtKB/TrEMBL
    B4DFG5
  3. XM_047436236.1XP_047292192.1  probable mitochondrial glutathione transporter SLC25A39 isoform X3

  4. XM_047436235.1XP_047292191.1  probable mitochondrial glutathione transporter SLC25A39 isoform X2

  5. XM_047436234.1XP_047292190.1  probable mitochondrial glutathione transporter SLC25A39 isoform X1

  6. XM_047436240.1XP_047292196.1  probable mitochondrial glutathione transporter SLC25A39 isoform X5

    Related
    ENSP00000466615.1, ENST00000588767.5
  7. XM_047436238.1XP_047292194.1  probable mitochondrial glutathione transporter SLC25A39 isoform X5

  8. XM_047436241.1XP_047292197.1  probable mitochondrial glutathione transporter SLC25A39 isoform X6

    Related
    ENSP00000466676.1, ENST00000586016.5
  9. XM_047436239.1XP_047292195.1  probable mitochondrial glutathione transporter SLC25A39 isoform X5

  10. XM_047436242.1XP_047292198.1  probable mitochondrial glutathione transporter SLC25A39 isoform X7

  11. XM_047436244.1XP_047292200.1  probable mitochondrial glutathione transporter SLC25A39 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    45172706..45177901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)