SLC25A39 - solute carrier family 25 member 39 Gene

Also Known as CGI69; CGI-69

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 51629

About SLC25A39

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,319,628-44,324,823 (from NCBI)

This gene has 17 transcripts (splice variants), 143 orthologues and 49 paralogues. Ubiquitous expression in bone marrow (RPKM 112.9), kidney (RPKM 47.3) and 25 other tissues.

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]

SLC25A39 Products (5)

mRNA Protein Name
NM_001143780.3 NP_001137252.1 probable mitochondrial glutathione transporter SLC25A39 isoform a
NM_001321240.2 NP_001308169.1 probable mitochondrial glutathione transporter SLC25A39 isoform c
NM_001321241.2 NP_001308170.1 probable mitochondrial glutathione transporter SLC25A39 isoform d
NM_001366726.1 NP_001353655.1 probable mitochondrial glutathione transporter SLC25A39 isoform e
NM_016016.4 NP_057100.1 probable mitochondrial glutathione transporter SLC25A39 isoform b
Molecular Function GO Annotation Evidence 参考文献 由来
enables 2 iron, 2 sulfur cluster binding IDA
IDA: Inferred from direct assay
37917749 GOA
enables glutathione transmembrane transporter activity IDA
IDA: Inferred from direct assay
34707288 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in cellular response to iron ion IDA
IDA: Inferred from direct assay
37917749 GOA
involved in glutathione import into mitochondrion IDA
IDA: Inferred from direct assay
34707288 GOA
involved in glutathione import into mitochondrion IMP
IMP: Inferred from mutant phenotype
35513392 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
is active in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
11256614 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC25A39 Protein Structure

Mito_carr

Mito_carr: Mitochondrial carrier protein (9 - 152)

Mito_carr

Mito_carr: Mitochondrial carrier protein (161 - 245)

Mito_carr

Mito_carr: Mitochondrial carrier protein (253 - 350)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
Protein Preferred Names Protein Names

probable mitochondrial glutathione transporter SLC25A39

関連疾患

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 18
  • Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome

  • COXPD18

  • Combined Oxidative Phosphorylation Deficiency, Type 18

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

生物種 Symbol 由来 ID
Bos taurus SLC25A39 VGNC VGNC:34764
Canis familiaris SLC25A39 VGNC VGNC:49801
Rattus norvegicus SLC25A39 RGD RGD:1306193
Mus musculus SLC25A39 MGD MGI:1196386
Felis catus SLC25A39 VGNC VGNC:65274
Macaca mulatta SLC25A39 VGNC VGNC:77568
Others SLC25A39 NCBI