Version 5.4
Homo sapiens Protein: SLC25A38
Summary
InnateDB Protein IDBP-26769.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC25A38
Protein Name solute carrier family 25, member 38
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000273158
InnateDB Gene IDBG-26767 (SLC25A38)
Protein Structure
UniProt Annotation
Function Mitochondrial carrier required during erythropoiesis. Probably involved in the biosynthesis of heme, possibly by facilitating 5-aminolevulinate (ALA) production. May act by importing glycine into mitochondria or by exchanging glycine for ALA across the mitochondrial inner membrane. {ECO:0000255HAMAP- Rule:MF_03064, ECO:0000269PubMed:19412178}.
Subcellular Localization Mitochondrion inner membrane {ECO:0000255HAMAP-Rule:MF_03064}; Multi-pass membrane protein {ECO:0000255HAMAP-Rule:MF_03064}.
Disease Associations Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA) [MIM:205950]: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. {ECO:0000269PubMed:19412178}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Preferentially expressed in erythroid cells. {ECO:0000269PubMed:19412178}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006783 heme biosynthetic process
GO:0006810 transport
GO:0030218 erythrocyte differentiation
Cellular Component
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain
PFAM PF00153
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96DW6
PhosphoSite PhosphoSite-Q96DW6
TrEMBL A0A024R2L5
UniProt Splice Variant
Entrez Gene 54977
UniGene Hs.606636
RefSeq NP_060345
HUGO HGNC:26054
OMIM 610819
CCDS CCDS2685
HPRD 07925
IMGT
EMBL AK000558 BC013194 CH471055 CR457242
GenPept AAH13194 BAA91253 CAG33523 EAW64580 EAW64581

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca