Q96DW6 · S2538_HUMAN
- ProteinMitochondrial glycine transporter
- GeneSLC25A38
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids304 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
Plays a role as pro-apoptotic protein that induces caspase-dependent apoptosis.
Catalytic activity
- glycine(in) = glycine(out)
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrion | |
Molecular Function | glycine transmembrane transporter activity | |
Biological Process | erythrocyte differentiation | |
Biological Process | glycine import into mitochondrion | |
Biological Process | heme biosynthetic process |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameMitochondrial glycine transporter
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96DW6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Multi-pass membrane protein
Features
Showing features for transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 31-56 | Helical; Name=1 | ||||
Sequence: FLCGSISGTCSTLLFQPLDLLKTRLQ | ||||||
Transmembrane | 89-115 | Helical; Name=2 | ||||
Sequence: GMSPSIVRCVPGVGIYFGTLYSLKQYF | ||||||
Transmembrane | 127-152 | Helical; Name=3 | ||||
Sequence: VMLGVGSRSVAGVCMSPITVIKTRYE | ||||||
Transmembrane | 180-203 | Helical; Name=4 | ||||
Sequence: GLTATLLRDAPFSGIYLMFYNQTK | ||||||
Transmembrane | 219-245 | Helical; Name=5 | ||||
Sequence: TNFSCGIFAGILASLVTQPADVIKTHM | ||||||
Transmembrane | 274-292 | Helical; Name=6 | ||||
Sequence: GGIPRALRRTLMAAMAWTV |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2)
- Note
- DescriptionA 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.
- See alsoMIM:205950
Natural variants in SIDBA2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_058093 | 130 | G>E | in SIDBA2; dbSNP:rs762562272 | |
VAR_058094 | 134 | R>H | in SIDBA2; dbSNP:rs2041767822 | |
VAR_058095 | 187 | R>P | in SIDBA2; dbSNP:rs121918331 | |
VAR_058096 | 209 | D>H | in SIDBA2; dbSNP:rs146864395 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_032862 | 66 | in dbSNP:rs34127778 | |||
Sequence: R → G | ||||||
Natural variant | VAR_058093 | 130 | in SIDBA2; dbSNP:rs762562272 | |||
Sequence: G → E | ||||||
Natural variant | VAR_058094 | 134 | in SIDBA2; dbSNP:rs2041767822 | |||
Sequence: R → H | ||||||
Natural variant | VAR_058095 | 187 | in SIDBA2; dbSNP:rs121918331 | |||
Sequence: R → P | ||||||
Natural variant | VAR_058096 | 209 | in SIDBA2; dbSNP:rs146864395 | |||
Sequence: D → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 395 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000291802 | 1-304 | Mitochondrial glycine transporter | |||
Sequence: MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTCSTLLFQPLDLLKTRLQTLQPSDHGSRRVGMLAVLLKVVRTESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQYFLRGHPPTALESVMLGVGSRSVAGVCMSPITVIKTRYESGKYGYESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNIVPHDQVDATLIPITNFSCGIFAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGIPRALRRTLMAAMAWTVYEEMMAKMGLKS |
Proteomic databases
PTM databases
Expression
Tissue specificity
Preferentially expressed in erythroid cells.
Induction
Up-regulated in the brains of patients with Alzheimer's disease.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 25-114 | Solcar 1 | ||||
Sequence: HPVIKAFLCGSISGTCSTLLFQPLDLLKTRLQTLQPSDHGSRRVGMLAVLLKVVRTESLLGLWKGMSPSIVRCVPGVGIYFGTLYSLKQY | ||||||
Repeat | 121-205 | Solcar 2 | ||||
Sequence: PTALESVMLGVGSRSVAGVCMSPITVIKTRYESGKYGYESIYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNI | ||||||
Repeat | 215-299 | Solcar 3 | ||||
Sequence: LIPITNFSCGIFAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGIPRALRRTLMAAMAWTVYEEMMAK |
Sequence similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length304
- Mass (Da)33,566
- Last updated2001-12-01 v1
- Checksum026B8121C40F8FF0
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A2R8Y823 | A0A2R8Y823_HUMAN | SLC25A38 | 286 | ||
A0A2R8Y427 | A0A2R8Y427_HUMAN | SLC25A38 | 151 | ||
A0A2R8Y553 | A0A2R8Y553_HUMAN | SLC25A38 | 287 | ||
A0A2R8YE85 | A0A2R8YE85_HUMAN | SLC25A38 | 248 | ||
A0A2R8YD83 | A0A2R8YD83_HUMAN | SLC25A38 | 109 | ||
C9JT44 | C9JT44_HUMAN | SLC25A38 | 148 | ||
A0A3B3IT77 | A0A3B3IT77_HUMAN | SLC25A38 | 252 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 239 | in Ref. 1; BAA91253 | ||||
Sequence: D → G |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK000558 EMBL· GenBank· DDBJ | BAA91253.1 EMBL· GenBank· DDBJ | mRNA | ||
CR457242 EMBL· GenBank· DDBJ | CAG33523.1 EMBL· GenBank· DDBJ | mRNA | ||
BC013194 EMBL· GenBank· DDBJ | AAH13194.1 EMBL· GenBank· DDBJ | mRNA | ||
AC099332 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC104850 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471055 EMBL· GenBank· DDBJ | EAW64580.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471055 EMBL· GenBank· DDBJ | EAW64581.1 EMBL· GenBank· DDBJ | Genomic DNA |