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

Gene ID: 51629, updated on 26-May-2016
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 HPRD:13040; MIM:610820; Vega:OTTHUMG00000132628
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]
Orthologs
Location:
17q12
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (44319625..44324857, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42396993..42402217, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371790 Neighboring gene RUNDC3A antisense RNA 1 Neighboring gene RUN domain containing 3A Neighboring gene granulin Neighboring gene family with sequence similarity 171 member A2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22407

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
heme biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
translation IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
solute carrier family 25 member 39

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_001143780.2NP_001137252.1  solute carrier family 25 member 39 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, BU678976, CB960224
    Consensus CDS
    CCDS45700.1
    UniProtKB/Swiss-Prot
    Q9BZJ4
    Related
    ENSP00000366299, OTTHUMP00000267540, ENST00000377095, OTTHUMT00000457745
    Conserved Domains (1) summary
    pfam00153
    Location:9152
    Mito_carr; Mitochondrial carrier protein
  2. NM_001321240.1NP_001308169.1  solute carrier family 25 member 39 isoform c

    Status: REVIEWED

    Source sequence(s)
    AK294085, BU678976, CB960224
    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_001321241.1NP_001308170.1  solute carrier family 25 member 39 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC003043, BU678976, CB960224
    Conserved Domains (1) summary
    pfam00153
    Location:9144
    Mito_carr; Mitochondrial carrier protein
  4. NM_016016.3NP_057100.1  solute carrier family 25 member 39 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, BU678976, CB960224
    Consensus CDS
    CCDS11482.1
    UniProtKB/Swiss-Prot
    Q9BZJ4
    Related
    ENSP00000225308, OTTHUMP00000163468, ENST00000225308, OTTHUMT00000255875
    Conserved Domains (1) summary
    pfam00153
    Location:9144
    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_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    44319625..44324857 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524881.1XP_011523183.1  

    Conserved Domains (1) summary
    pfam00153
    Location:9144
    Mito_carr; Mitochondrial carrier protein
  2. XM_011524884.1XP_011523186.1  

    See identical proteins and their annotated locations for XP_011523186.1

    Related
    ENSP00000466615, OTTHUMP00000267545, ENST00000588767, OTTHUMT00000457751
    Conserved Domains (1) summary
    pfam00153
    Location:156255
    Mito_carr; Mitochondrial carrier protein
  3. XM_011524880.1XP_011523182.1  

    Conserved Domains (1) summary
    pfam00153
    Location:9152
    Mito_carr; Mitochondrial carrier protein
  4. XM_011524885.1XP_011523187.1  

    Related
    ENSP00000466676, OTTHUMP00000267542, ENST00000586016, OTTHUMT00000457747
    Conserved Domains (1) summary
    pfam00153
    Location:150249
    Mito_carr; Mitochondrial carrier protein
  5. XM_011524883.1XP_011523185.1  

    See identical proteins and their annotated locations for XP_011523185.1

    Conserved Domains (1) summary
    pfam00153
    Location:156255
    Mito_carr; Mitochondrial carrier protein
  6. XM_011524882.1XP_011523184.1  

    Conserved Domains (2) summary
    PTZ00169
    Location:16314
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:9129
    Mito_carr; Mitochondrial carrier protein
  7. XM_005257445.3XP_005257502.1  

    UniProtKB/TrEMBL
    B4DFG5
    Related
    ENSP00000444540, OTTHUMP00000267544, ENST00000537904, OTTHUMT00000457750
    Conserved Domains (2) summary
    PTZ00169
    Location:16308
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:9129
    Mito_carr; Mitochondrial carrier protein

RNA

  1. XR_934481.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    42632642..42637877 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)