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Protein

Solute carrier family 25 member 38

Gene

SLC25A38

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

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.UniRule annotation1 Publication

GO - Molecular functioni

GO - Biological processi

  • erythrocyte differentiation Source: UniProtKB
  • glycine import Source: GO_Central
  • 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:
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

HGNCiHGNC:26054. SLC25A38.

Subcellular locationi

  • Mitochondrion inner membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

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

GO - Cellular componenti

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:rs121918331Ensembl.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 – 304Solute carrier family 25 member 38Add BLAST304

Proteomic databases

EPDiQ96DW6.
MaxQBiQ96DW6.
PaxDbiQ96DW6.
PeptideAtlasiQ96DW6.
PRIDEiQ96DW6.

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.
MINTiMINT-1367644.
STRINGi9606.ENSP00000273158.

Structurei

3D structure databases

ProteinModelPortaliQ96DW6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati25 – 114Solcar 1Add BLAST90
Repeati121 – 205Solcar 2Add BLAST85
Repeati215 – 299Solcar 3Add 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. 1 hit.
HAMAPiMF_03064. SLC25A38. 1 hit.
InterProiView protein in InterPro
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
IPR030847. SLC25A38.
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:rs34127778Ensembl.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:rs121918331Ensembl.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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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 7, 2017
This is version 124 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