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Protein

Mitochondrial glycine transporter

Gene

SLC25A38

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.UniRule annotation2 Publications

GO - Molecular functioni

GO - Biological processi

  • erythrocyte differentiation Source: UniProtKB
  • glycine import into mitochondrion Source: InterPro
  • heme biosynthetic process Source: UniProtKB
  • mitochondrial transport Source: GO_Central

Keywordsi

Biological processTransport

Protein family/group databases

TCDBi2.A.29.5.6 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial glycine transporterUniRule annotation
Alternative name(s):
Mitochondrial glycine transporter GlyC1 Publication
Solute carrier family 25 member 38UniRule annotation
Gene namesi
Name:SLC25A38UniRule annotation
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144659.10
HGNCiHGNC:26054 SLC25A38
MIMi610819 gene
neXtProtiNX_Q96DW6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei31 – 56Helical; Name=1UniRule annotationAdd BLAST26
Transmembranei89 – 115Helical; Name=2UniRule annotationAdd BLAST27
Transmembranei127 – 152Helical; Name=3UniRule annotationAdd BLAST26
Transmembranei180 – 203Helical; Name=4UniRule annotationAdd BLAST24
Transmembranei219 – 245Helical; Name=5UniRule annotationAdd BLAST27
Transmembranei274 – 292Helical; Name=6UniRule annotationAdd BLAST19

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Anemia, sideroblastic, 2, pyridoxine-refractory (SIDBA2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:205950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058093130G → E in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs762562272Ensembl.1
Natural variantiVAR_058094134R → H in SIDBA2. 1 Publication1
Natural variantiVAR_058095187R → P in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs121918331EnsemblClinVar.1
Natural variantiVAR_058096209D → H in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs146864395Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi54977
MalaCardsiSLC25A38
MIMi205950 phenotype
OpenTargetsiENSG00000144659
Orphaneti260305 Autosomal recessive sideroblastic anemia
PharmGKBiPA162403607

Polymorphism and mutation databases

BioMutaiSLC25A38
DMDMi74751821

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002918021 – 304Mitochondrial glycine transporterAdd BLAST304

Proteomic databases

EPDiQ96DW6
MaxQBiQ96DW6
PaxDbiQ96DW6
PeptideAtlasiQ96DW6
PRIDEiQ96DW6
ProteomicsDBi76331

PTM databases

iPTMnetiQ96DW6
PhosphoSitePlusiQ96DW6

Expressioni

Tissue specificityi

Preferentially expressed in erythroid cells.1 Publication

Gene expression databases

BgeeiENSG00000144659
CleanExiHS_SLC25A38
ExpressionAtlasiQ96DW6 baseline and differential
GenevisibleiQ96DW6 HS

Organism-specific databases

HPAiHPA041027

Interactioni

Protein-protein interaction databases

BioGridi120313, 5 interactors
IntActiQ96DW6, 4 interactors
STRINGi9606.ENSP00000273158

Structurei

3D structure databases

ProteinModelPortaliQ96DW6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati25 – 114Solcar 1UniRule annotationAdd BLAST90
Repeati121 – 205Solcar 2UniRule annotationAdd BLAST85
Repeati215 – 299Solcar 3UniRule annotationAdd BLAST85

Sequence similaritiesi

Belongs to the mitochondrial carrier (TC 2.A.29) family. SLC25A38 subfamily. [View classification]UniRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0766 Eukaryota
ENOG410XRMK LUCA
GeneTreeiENSGT00550000075117
HOGENOMiHOG000006978
HOVERGENiHBG054682
InParanoidiQ96DW6
KOiK15118
OMAiTVYEQMM
OrthoDBiEOG091G0IR1
PhylomeDBiQ96DW6
TreeFamiTF332793

Family and domain databases

Gene3Di1.50.40.10, 2 hits
HAMAPiMF_03064 SLC25A38, 1 hit
InterProiView protein in InterPro
IPR030847 Hem25/SLC25A38
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequencei

Sequence statusi: Complete.

Q96DW6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIQNSRPSLL QPQDVGDTVE TLMLHPVIKA FLCGSISGTC STLLFQPLDL
60 70 80 90 100
LKTRLQTLQP SDHGSRRVGM LAVLLKVVRT ESLLGLWKGM SPSIVRCVPG
110 120 130 140 150
VGIYFGTLYS LKQYFLRGHP PTALESVMLG VGSRSVAGVC MSPITVIKTR
160 170 180 190 200
YESGKYGYES IYAALRSIYH SEGHRGLFSG LTATLLRDAP FSGIYLMFYN
210 220 230 240 250
QTKNIVPHDQ VDATLIPITN FSCGIFAGIL ASLVTQPADV IKTHMQLYPL
260 270 280 290 300
KFQWIGQAVT LIFKDYGLRG FFQGGIPRAL RRTLMAAMAW TVYEEMMAKM

GLKS
Length:304
Mass (Da):33,566
Last modified:December 1, 2001 - v1
Checksum:i026B8121C40F8FF0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti239D → G in BAA91253 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03286266R → G. Corresponds to variant dbSNP:rs34127778EnsemblClinVar.1
Natural variantiVAR_058093130G → E in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs762562272Ensembl.1
Natural variantiVAR_058094134R → H in SIDBA2. 1 Publication1
Natural variantiVAR_058095187R → P in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs121918331EnsemblClinVar.1
Natural variantiVAR_058096209D → H in SIDBA2. 1 PublicationCorresponds to variant dbSNP:rs146864395Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000558 mRNA Translation: BAA91253.1
CR457242 mRNA Translation: CAG33523.1
BC013194 mRNA Translation: AAH13194.1
CCDSiCCDS2685.1
RefSeqiNP_060345.2, NM_017875.2
UniGeneiHs.369615

Genome annotation databases

EnsembliENST00000273158; ENSP00000273158; ENSG00000144659
GeneIDi54977
KEGGihsa:54977
UCSCiuc003cjo.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiS2538_HUMAN
AccessioniPrimary (citable) accession number: Q96DW6
Secondary accession number(s): Q9NWX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: December 1, 2001
Last modified: June 20, 2018
This is version 129 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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