SLC25A38
entrez
54977
canonical
uniprot
Q96DW6
canonical
ensembl
ENSG00000144659
resolver
ensp
ENSP00000496690
resolver
ensp
ENSP00000497532
resolver
ensp
ENSP00000770298
resolver
enst
ENST00000645280
resolver
enst
ENST00000650617
resolver
genesymbol
SLC25A38
resolver
hgnc
HGNC:26054
resolver
uniprot
A0A2R8Y823
resolver
uniprot
A1LP07
resolver
uniprot
Q9NWX2
resolver
uniprot_entry
A0A2R8Y823_HUMAN
resolver
uniprot_entry
S2538_HUMAN
resolver
uniprot_sec
A1LP07
resolver
uniprot_sec
Q9NWX2
resolver
amino_acid_sequence
MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTCSTLLFQPLDLLKTRLQTLQPSDHGSRRVGMLAVLLKVVRTESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQYFLRGHPPTALESVMLGVGSRSVAGVCMSPITVIKTRYESGKYGYESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNIVPHDQVDATLIPITNFSCGIFAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGIPRALRRTLMAAMAWTVYEEMMAKMGLKS
uniprot
proteins
disease_involvement
DISEASE: Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) [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:0000269|PubMed:19412178}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mitochondrial glycine transporter that imports glycine into the mitochondrial matrix. Plays an important role in providing glycine for the first enzymatic step in heme biosynthesis, the condensation of glycine with succinyl-CoA to produce 5-aminolevulinate (ALA) in the mitochondrial matrix. Required during erythropoiesis. {ECO:0000255|HAMAP-Rule:MF_03064, ECO:0000269|PubMed:19412178, ECO:0000269|PubMed:27476175}.; FUNCTION: Plays a role as pro-apoptotic protein that induces caspase-dependent apoptosis. {ECO:0000250|UniProtKB:Q91XD8}.
uniprot
proteins
mass_dalton
33566
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
protein_family
SLC25A38 subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16949250
uniprot
proteins
pubmed
19412178
uniprot
proteins
pubmed
23115192
uniprot
proteins
pubmed
27476175
uniprot
proteins
sequence_length
304
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000255|HAMAP-Rule:MF_03064}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03064}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..56; /note="Helical; Name=1"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064"; TRANSMEM 89..115; /note="Helical; Name=2"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064"; TRANSMEM 127..152; /note="Helical; Name=3"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064"; TRANSMEM 180..203; /note="Helical; Name=4"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064"; TRANSMEM 219..245; /note="Helical; Name=5"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064"; TRANSMEM 274..292; /note="Helical; Name=6"; /evidence="ECO:0000255|HAMAP-Rule:MF_03064
uniprot
proteins