Seroatlas · Human Serome Atlas

SLC25A38

Mitochondrial glycine transporter

Also known as: FLJ20551, S2538_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96DW6
Gene: SLC25A38
Ensembl: ENSG00000144659
Chromosome: 3
Canonical length: 304 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

304 residues, UniProt reviewed canonical sequence.

>Q96DW6|SLC25A38
     1  MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL LKTRLQTLQP
    61  SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG VGIYFGTLYS LKQYFLRGHP
   121  PTALESVMLG VGSRSVAGVC MSPITVIKTR YESGKYGYES IYAALRSIYH SEGHRGLFSG
   181  LTATLLRDAP FSGIYLMFYN QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV
   241  IKTHMQLYPL KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM
   301  GLKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A38 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 6
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 66 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 66 nTPM
liver: 56 nTPM
choroid plexus: 55 nTPM
thyroid gland: 49 nTPM
skeletal muscle: 46 nTPM
pancreas: 44 nTPM

Single-cell type

oocytes: 74 nCPM
endometrial luminal cells: 54 nCPM
granulosa cells: 53 nCPM
erythrocyte progenitors: 48 nCPM
endometrial glandular cells: 48 nCPM
cytotrophoblasts: 44 nCPM

Immune cell

NK-cell: 57 nTPM
T-reg: 55 nTPM
memory B-cell: 51 nTPM
MAIT T-cell: 45 nTPM
memory CD8 T-cell: 43 nTPM
naive CD4 T-cell: 42 nTPM

Brain region

choroid plexus: 42 nTPM
hypothalamus: 26 nTPM
cerebellum: 25 nTPM
pons: 25 nTPM
midbrain: 22 nTPM
medulla oblongata: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A38.

Disease | AllUniProt

Conditions SLC25A38 is implicated in, by any mechanism.

Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2) MIM:205950

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 272 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Sideroblastic anemia 2
SLC25A38-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.11
gnomAD pLI: 0
gnomAD missense Z: 0.26
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

erythrocyte differentiation
heme biosynthetic process
glycine import into mitochondrion

Molecular functions

glycine transmembrane transporter activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Mitochondrial carrier protein, transmembrane region
Mitochondrial carrier protein domain superfamily
Mitochondrial carrier protein
Mitochondrial glycine transporter Hem25/SLC25A38

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A38 as an antibody target. Whether an autoantibody or antibody against SLC25A38 could matter depends on whether native SLC25A38 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A38 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC25A38 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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