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Protein

Mitochondrial folate transporter/carrier

Gene

SLC25A32

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

Functioni

Transports folate across the inner membranes of mitochondria.

GO - Molecular functioni

  • folic acid transporter activity Source: UniProtKB

GO - Biological processi

  • folic acid import into mitochondrion Source: BHF-UCL
  • folic acid metabolic process Source: Reactome
  • folic acid transport Source: UniProtKB
  • glycine metabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164933-MONOMER.
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

HGNCiHGNC:29683. SLC25A32.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrion Source: BHF-UCL
Complete GO annotation...

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 rs142329098dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

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.

PTM databases

iPTMnetiQ9H2D1.
PhosphoSitePlusiQ9H2D1.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000164933.
CleanExiHS_SLC25A32.
ExpressionAtlasiQ9H2D1. baseline and differential.
GenevisibleiQ9H2D1. HS.

Organism-specific databases

HPAiHPA047402.

Interactioni

Protein-protein interaction databases

BioGridi123352. 20 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

Contains 3 Solcar repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0764. Eukaryota.
ENOG410XPAJ. LUCA.
GeneTreeiENSGT00770000120566.
HOGENOMiHOG000188210.
HOVERGENiHBG101979.
InParanoidiQ9H2D1.
KOiK15115.
OMAiLKIYKYE.
OrthoDBiEOG091G0DLO.
PhylomeDBiQ9H2D1.
TreeFamiTF314217.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002030. Mit_uncoupling.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00784. MTUNCOUPLING.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

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 → H.1 PublicationCorresponds to variant rs17803441dbSNPEnsembl.1
Natural variantiVAR_076364147R → H in RREI; decreases succinate dehydrogenase activity and glycerol-3-phosphate dehydrogenase activity. 1 PublicationCorresponds to variant rs142329098dbSNPEnsembl.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

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. 20 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.

Protocols and materials databases

DNASUi81034.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi81034.
GeneCardsiSLC25A32.
HGNCiHGNC:29683. SLC25A32.
HPAiHPA047402.
MIMi610815. gene.
616839. phenotype.
neXtProtiNX_Q9H2D1.
OpenTargetsiENSG00000164933.
PharmGKBiPA142670905.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0764. Eukaryota.
ENOG410XPAJ. LUCA.
GeneTreeiENSGT00770000120566.
HOGENOMiHOG000188210.
HOVERGENiHBG101979.
InParanoidiQ9H2D1.
KOiK15115.
OMAiLKIYKYE.
OrthoDBiEOG091G0DLO.
PhylomeDBiQ9H2D1.
TreeFamiTF314217.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164933-MONOMER.
ReactomeiR-HSA-196757. Metabolism of folate and pterines.

Miscellaneous databases

ChiTaRSiSLC25A32. human.
GenomeRNAii81034.
PROiQ9H2D1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164933.
CleanExiHS_SLC25A32.
ExpressionAtlasiQ9H2D1. baseline and differential.
GenevisibleiQ9H2D1. HS.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002030. Mit_uncoupling.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00784. MTUNCOUPLING.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMFTC_HUMAN
AccessioniPrimary (citable) accession number: Q9H2D1
Secondary accession number(s): Q96JZ6, Q96SU7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 11, 2002
Last sequence update: August 22, 2003
Last modified: November 30, 2016
This is version 135 of the entry and version 2 of the sequence. [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. 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

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.