HuLPr45062

Uniprot ID

S2538_HUMAN

Uniprot Acc

Q96DW6;Q9NWX2;

Protein name

Solute carrier family 25 member 38

Comment

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.||SUBCELLULAR LOCATION:Mitochondrion inner membrane; Multi-pass membrane protein (By similarity).||TISSUE SPECIFICITY:Preferentially expressed in erythroid cells.||DISEASE:Defects in SLC25A38 are a cause of 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.||SIMILARITY:Belongs to the mitochon

Subcellular localization

Mitochondrion inner membrane;Multi-pass membrane protein(By similarity).

Gene name

solute carrier family 25, member 38

Protein sequence

MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTC STLLFQPLDLLKTRLQTLQPSDHGSRRVGMLAVLLKVVR TESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQYFLRG HPPTALESVMLGVGSRSVAGVCMSPITVIKTRYESGKYG YESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYL MFYNQTKNIVPHDQVDATLIPITNFSCGIFAGILASLVT QPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQG GIPRALRRTLMAAMAWTVYEEMMAKMGLKS

Database cross reference

RefSeq Protein accession:NP_060345
RefSeq Protein gi:157388925

HLPP validation

Yes/No

Yes

Project name

French Liver;Human Liver Organelles;

GO:0016021;C:integral to membrane;IEA:UniProtKB-KW. GO:0005743;C:mitochondrial inner membrane;IEA:UniProtKB-SubCell.

GO-P

GO:0030218;P:erythrocyte differentiation;IMP:UniProtKB. GO:0006783;P:heme biosynthetic process;TAS:UniProtKB. GO:0006810;P:transport;IEA:UniProtKB-KW.