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Protein

Mitochondrial folate transporter/carrier

Gene

SLC25A32

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

Functioni

Transports folate across the inner membranes of mitochondria.

GO - Molecular functioni

GO - Biological processi

  • folate import into mitochondrion Source: BHF-UCL
  • folic acid metabolic process Source: Reactome
  • folic acid transport Source: UniProtKB
  • glycine metabolic process Source: BHF-UCL
  • mitochondrial transport Source: GO_Central

Keywordsi

Biological processTransport

Enzyme and pathway databases

ReactomeiR-HSA-196757 Metabolism of folate and pterines

Protein family/group databases

TCDBi2.A.29.10.2 the mitochondrial carrier (mc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial folate transporter/carrier
Alternative name(s):
Solute carrier family 25 member 32
Gene namesi
Name:SLC25A32
Synonyms:MFT, MFTC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000164933.11
HGNCiHGNC:29683 SLC25A32
MIMi610815 gene
neXtProtiNX_Q9H2D1

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
Transmembranei26 – 43Helical; Name=1Sequence analysisAdd BLAST18
Transmembranei89 – 106Helical; Name=2Sequence analysisAdd BLAST18
Transmembranei123 – 143Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei186 – 203Helical; Name=4Sequence analysisAdd BLAST18
Transmembranei227 – 243Helical; Name=5Sequence analysisAdd BLAST17
Transmembranei281 – 300Helical; Name=6Sequence analysisAdd BLAST20

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Exercise intolerance, riboflavin-responsive (RREI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance.
See also OMIM:616839
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076364147R → H in RREI; decreases succinate dehydrogenase activity and glycerol-3-phosphate dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs142329098EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi81034
MalaCardsiSLC25A32
MIMi616839 phenotype
OpenTargetsiENSG00000164933
PharmGKBiPA142670905

Chemistry databases

DrugBankiDB00158 Folic Acid

Polymorphism and mutation databases

DMDMi34223740

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000906411 – 315Mitochondrial folate transporter/carrierAdd BLAST315

Proteomic databases

EPDiQ9H2D1
MaxQBiQ9H2D1
PaxDbiQ9H2D1
PeptideAtlasiQ9H2D1
PRIDEiQ9H2D1
ProteomicsDBi80530

PTM databases

iPTMnetiQ9H2D1
PhosphoSitePlusiQ9H2D1

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000164933 Expressed in 218 organ(s), highest expression level in female gonad
CleanExiHS_SLC25A32
ExpressionAtlasiQ9H2D1 baseline and differential
GenevisibleiQ9H2D1 HS

Organism-specific databases

HPAiHPA024763
HPA047402

Interactioni

Protein-protein interaction databases

BioGridi123352, 24 interactors
STRINGi9606.ENSP00000297578

Structurei

3D structure databases

ProteinModelPortaliQ9H2D1
SMRiQ9H2D1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati20 – 109Solcar 1Add BLAST90
Repeati118 – 209Solcar 2Add BLAST92
Repeati222 – 306Solcar 3Add BLAST85

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0764 Eukaryota
ENOG410XPAJ LUCA
GeneTreeiENSGT00920000149145
HOGENOMiHOG000188210
HOVERGENiHBG101979
InParanoidiQ9H2D1
KOiK15115
OMAiLRPKYKG
OrthoDBiEOG091G0DLO
PhylomeDBiQ9H2D1
TreeFamiTF314217

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002030 Mit_uncoupling_UCP-like
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00784 MTUNCOUPLING
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9H2D1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTGQGQSASG SSAWSTVFRH VRYENLIAGV SGGVLSNLAL HPLDLVKIRF
60 70 80 90 100
AVSDGLELRP KYNGILHCLT TIWKLDGLRG LYQGVTPNIW GAGLSWGLYF
110 120 130 140 150
FFYNAIKSYK TEGRAERLEA TEYLVSAAEA GAMTLCITNP LWVTKTRLML
160 170 180 190 200
QYDAVVNSPH RQYKGMFDTL VKIYKYEGVR GLYKGFVPGL FGTSHGALQF
210 220 230 240 250
MAYELLKLKY NQHINRLPEA QLSTVEYISV AALSKIFAVA ATYPYQVVRA
260 270 280 290 300
RLQDQHMFYS GVIDVITKTW RKEGVGGFYK GIAPNLIRVT PACCITFVVY
310
ENVSHFLLDL REKRK
Length:315
Mass (Da):35,407
Last modified:August 22, 2003 - v2
Checksum:iEED376828B4D1069
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RGK5E5RGK5_HUMAN
Mitochondrial folate transporter/ca...
SLC25A32
123Annotation score:
E5RGT9E5RGT9_HUMAN
Mitochondrial folate transporter/ca...
SLC25A32
149Annotation score:
E5RFL3E5RFL3_HUMAN
Mitochondrial folate transporter/ca...
SLC25A32
123Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti306F → L in BAB55368 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050130117R → H1 PublicationCorresponds to variant dbSNP:rs17803441Ensembl.1
Natural variantiVAR_076364147R → H in RREI; decreases succinate dehydrogenase activity and glycerol-3-phosphate dehydrogenase activity. 1 PublicationCorresponds to variant dbSNP:rs142329098EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283645 mRNA Translation: AAG37834.1
AK027531 mRNA Translation: BAB55180.1
AK027787 mRNA Translation: BAB55368.1
BC021893 mRNA Translation: AAH21893.1
CCDSiCCDS6300.1
RefSeqiNP_110407.2, NM_030780.4
UniGeneiHs.532265
Hs.607819

Genome annotation databases

EnsembliENST00000297578; ENSP00000297578; ENSG00000164933
GeneIDi81034
KEGGihsa:81034
UCSCiuc003yll.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF283645 mRNA Translation: AAG37834.1
AK027531 mRNA Translation: BAB55180.1
AK027787 mRNA Translation: BAB55368.1
BC021893 mRNA Translation: AAH21893.1
CCDSiCCDS6300.1
RefSeqiNP_110407.2, NM_030780.4
UniGeneiHs.532265
Hs.607819

3D structure databases

ProteinModelPortaliQ9H2D1
SMRiQ9H2D1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123352, 24 interactors
STRINGi9606.ENSP00000297578

Chemistry databases

DrugBankiDB00158 Folic Acid

Protein family/group databases

TCDBi2.A.29.10.2 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9H2D1
PhosphoSitePlusiQ9H2D1

Polymorphism and mutation databases

DMDMi34223740

Proteomic databases

EPDiQ9H2D1
MaxQBiQ9H2D1
PaxDbiQ9H2D1
PeptideAtlasiQ9H2D1
PRIDEiQ9H2D1
ProteomicsDBi80530

Protocols and materials databases

DNASUi81034
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297578; ENSP00000297578; ENSG00000164933
GeneIDi81034
KEGGihsa:81034
UCSCiuc003yll.5 human

Organism-specific databases

CTDi81034
DisGeNETi81034
EuPathDBiHostDB:ENSG00000164933.11
GeneCardsiSLC25A32
HGNCiHGNC:29683 SLC25A32
HPAiHPA024763
HPA047402
MalaCardsiSLC25A32
MIMi610815 gene
616839 phenotype
neXtProtiNX_Q9H2D1
OpenTargetsiENSG00000164933
PharmGKBiPA142670905
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0764 Eukaryota
ENOG410XPAJ LUCA
GeneTreeiENSGT00920000149145
HOGENOMiHOG000188210
HOVERGENiHBG101979
InParanoidiQ9H2D1
KOiK15115
OMAiLRPKYKG
OrthoDBiEOG091G0DLO
PhylomeDBiQ9H2D1
TreeFamiTF314217

Enzyme and pathway databases

ReactomeiR-HSA-196757 Metabolism of folate and pterines

Miscellaneous databases

ChiTaRSiSLC25A32 human
GenomeRNAii81034
PROiPR:Q9H2D1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164933 Expressed in 218 organ(s), highest expression level in female gonad
CleanExiHS_SLC25A32
ExpressionAtlasiQ9H2D1 baseline and differential
GenevisibleiQ9H2D1 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002030 Mit_uncoupling_UCP-like
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00784 MTUNCOUPLING
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMFTC_HUMAN
AccessioniPrimary (citable) accession number: Q9H2D1
Secondary accession number(s): Q96JZ6, Q96SU7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: August 22, 2003
Last modified: September 12, 2018
This is version 148 of the entry and version 2 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 8
    Human chromosome 8: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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