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P53007

- TXTP_HUMAN

UniProt

P53007 - TXTP_HUMAN

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Protein

Tricarboxylate transport protein, mitochondrial

Gene
SLC25A1, SLC20A3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in citrate-H+/malate exchange. Important for the bioenergetics of hepatic cells as it provides a carbon source for fatty acid and sterol biosyntheses, and NAD+ for the glycolytic pathway.

GO - Molecular functioni

  1. citrate transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. cellular lipid metabolic process Source: Reactome
  3. citrate transport Source: GOC
  4. gluconeogenesis Source: Reactome
  5. glucose metabolic process Source: Reactome
  6. long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
  7. small molecule metabolic process Source: Reactome
  8. triglyceride biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

ReactomeiREACT_1319. Fatty Acyl-CoA Biosynthesis.
REACT_1520. Gluconeogenesis.

Protein family/group databases

TCDBi2.A.29.7.2. the mitochondrial carrier (mc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Tricarboxylate transport protein, mitochondrial
Alternative name(s):
Citrate transport protein
Short name:
CTP
Solute carrier family 25 member 1
Tricarboxylate carrier protein
Gene namesi
Name:SLC25A1
Synonyms:SLC20A3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:10979. SLC25A1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4618Helical; Name=1; Reviewed predictionAdd
BLAST
Transmembranei86 – 10520Helical; Name=2; Reviewed predictionAdd
BLAST
Transmembranei129 – 14315Helical; Name=3; Reviewed predictionAdd
BLAST
Transmembranei183 – 20220Helical; Name=4; Reviewed predictionAdd
BLAST
Transmembranei224 – 24118Helical; Name=5; Reviewed predictionAdd
BLAST
Transmembranei278 – 29720Helical; Name=6; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProt
  2. integral component of membrane Source: UniProtKB-KW
  3. mitochondrial inner membrane Source: Reactome
  4. nucleus Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Combined D-2- and L-2-hydroxyglutaric aciduria (D2L2AD) [MIM:615182]: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451P → L in D2L2AD. 1 Publication
VAR_069490
Natural varianti144 – 1441E → Q in D2L2AD. 1 Publication
VAR_069491
Natural varianti167 – 1671G → R in D2L2AD. 1 Publication
VAR_069492
Natural varianti193 – 1931S → W in D2L2AD. 1 Publication
VAR_069493
Natural varianti202 – 2021M → T in D2L2AD. 1 Publication
VAR_069494
Natural varianti282 – 2821R → C in D2L2AD. 1 Publication
VAR_069495
Natural varianti282 – 2821R → G in D2L2AD. 1 Publication
VAR_069496
Natural varianti297 – 2971Y → C in D2L2AD. 1 Publication
VAR_069497

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615182. phenotype.
Orphaneti356978. D,L-2-hydroxyglutaric aciduria.
PharmGKBiPA35855.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 1313Mitochondrion By similarityAdd
BLAST
Chaini14 – 311298Tricarboxylate transport protein, mitochondrialPRO_0000019262Add
BLAST

Proteomic databases

MaxQBiP53007.
PaxDbiP53007.
PeptideAtlasiP53007.
PRIDEiP53007.

PTM databases

PhosphoSiteiP53007.

Expressioni

Gene expression databases

ArrayExpressiP53007.
BgeeiP53007.
CleanExiHS_SLC25A1.
GenevestigatoriP53007.

Organism-specific databases

HPAiHPA030183.

Interactioni

Protein-protein interaction databases

BioGridi112464. 20 interactions.
IntActiP53007. 10 interactions.
MINTiMINT-1153318.
STRINGi9606.ENSP00000215882.

Structurei

3D structure databases

ProteinModelPortaliP53007.
SMRiP53007. Positions 27-300.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati23 – 11189Solcar 1Add
BLAST
Repeati122 – 20887Solcar 2Add
BLAST
Repeati218 – 30386Solcar 3Add
BLAST

Sequence similaritiesi

Contains 3 Solcar repeats.

Keywords - Domaini

Repeat, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG306627.
HOVERGENiHBG103009.
InParanoidiP53007.
KOiK15100.
OMAiFMIYDSI.
PhylomeDBiP53007.
TreeFamiTF105786.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiIPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view]
PfamiPF00153. Mito_carr. 3 hits.
[Graphical view]
PRINTSiPR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiPS50920. SOLCAR. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P53007-1 [UniParc]FASTAAdd to Basket

« Hide

MPAPRAPRAL AAAAPASGKA KLTHPGKAIL AGGLAGGIEI CITFPTEYVK    50
TQLQLDERSH PPRYRGIGDC VRQTVRSHGV LGLYRGLSSL LYGSIPKAAV 100
RFGMFEFLSN HMRDAQGRLD STRGLLCGLG AGVAEAVVVV CPMETIKVKF 150
IHDQTSPNPK YRGFFHGVRE IVREQGLKGT YQGLTATVLK QGSNQAIRFF 200
VMTSLRNWYR GDNPNKPMNP LITGVFGAIA GAASVFGNTP LDVIKTRMQG 250
LEAHKYRNTW DCGLQILKKE GLKAFYKGTV PRLGRVCLDV AIVFVIYDEV 300
VKLLNKVWKT D 311
Length:311
Mass (Da):34,013
Last modified:February 11, 2002 - v2
Checksum:iF1341629924953D6
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451P → L in D2L2AD. 1 Publication
VAR_069490
Natural varianti144 – 1441E → Q in D2L2AD. 1 Publication
VAR_069491
Natural varianti167 – 1671G → R in D2L2AD. 1 Publication
VAR_069492
Natural varianti193 – 1931S → W in D2L2AD. 1 Publication
VAR_069493
Natural varianti202 – 2021M → T in D2L2AD. 1 Publication
VAR_069494
Natural varianti282 – 2821R → C in D2L2AD. 1 Publication
VAR_069495
Natural varianti282 – 2821R → G in D2L2AD. 1 Publication
VAR_069496
Natural varianti297 – 2971Y → C in D2L2AD. 1 Publication
VAR_069497

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti26 – 261G → E in AAB08515. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U25147 mRNA. Translation: AAB08515.1.
L76134 Genomic DNA. Translation: AAL40091.1.
L75823 mRNA. Translation: AAL40090.1.
AK292313 mRNA. Translation: BAF85002.1.
BC004980 mRNA. Translation: AAH04980.1.
BC008061 mRNA. Translation: AAH08061.1.
CCDSiCCDS13758.1.
PIRiG01789.
RefSeqiNP_005975.1. NM_005984.4.
UniGeneiHs.111024.

Genome annotation databases

EnsembliENST00000215882; ENSP00000215882; ENSG00000100075.
ENST00000598008; ENSP00000472050; ENSG00000268928.
GeneIDi6576.
KEGGihsa:6576.
UCSCiuc002zoy.4. human.

Polymorphism databases

DMDMi20141931.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U25147 mRNA. Translation: AAB08515.1 .
L76134 Genomic DNA. Translation: AAL40091.1 .
L75823 mRNA. Translation: AAL40090.1 .
AK292313 mRNA. Translation: BAF85002.1 .
BC004980 mRNA. Translation: AAH04980.1 .
BC008061 mRNA. Translation: AAH08061.1 .
CCDSi CCDS13758.1.
PIRi G01789.
RefSeqi NP_005975.1. NM_005984.4.
UniGenei Hs.111024.

3D structure databases

ProteinModelPortali P53007.
SMRi P53007. Positions 27-300.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112464. 20 interactions.
IntActi P53007. 10 interactions.
MINTi MINT-1153318.
STRINGi 9606.ENSP00000215882.

Chemistry

GuidetoPHARMACOLOGYi 1051.

Protein family/group databases

TCDBi 2.A.29.7.2. the mitochondrial carrier (mc) family.

PTM databases

PhosphoSitei P53007.

Polymorphism databases

DMDMi 20141931.

Proteomic databases

MaxQBi P53007.
PaxDbi P53007.
PeptideAtlasi P53007.
PRIDEi P53007.

Protocols and materials databases

DNASUi 6576.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000215882 ; ENSP00000215882 ; ENSG00000100075 .
ENST00000598008 ; ENSP00000472050 ; ENSG00000268928 .
GeneIDi 6576.
KEGGi hsa:6576.
UCSCi uc002zoy.4. human.

Organism-specific databases

CTDi 6576.
GeneCardsi GC22M019163.
H-InvDB HIX0040279.
HGNCi HGNC:10979. SLC25A1.
HPAi HPA030183.
MIMi 190315. gene.
615182. phenotype.
neXtProti NX_P53007.
Orphaneti 356978. D,L-2-hydroxyglutaric aciduria.
PharmGKBi PA35855.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG306627.
HOVERGENi HBG103009.
InParanoidi P53007.
KOi K15100.
OMAi FMIYDSI.
PhylomeDBi P53007.
TreeFami TF105786.

Enzyme and pathway databases

Reactomei REACT_1319. Fatty Acyl-CoA Biosynthesis.
REACT_1520. Gluconeogenesis.

Miscellaneous databases

ChiTaRSi SLC25A1. human.
GeneWikii SLC25A1.
GenomeRNAii 6576.
NextBioi 25587.
PROi P53007.
SOURCEi Search...

Gene expression databases

ArrayExpressi P53007.
Bgeei P53007.
CleanExi HS_SLC25A1.
Genevestigatori P53007.

Family and domain databases

Gene3Di 1.50.40.10. 1 hit.
InterProi IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
[Graphical view ]
Pfami PF00153. Mito_carr. 3 hits.
[Graphical view ]
PRINTSi PR00926. MITOCARRIER.
SUPFAMi SSF103506. SSF103506. 1 hit.
PROSITEi PS50920. SOLCAR. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22q11 in the DiGeorge syndrome critical region."
    Heisterkamp N., Mulder M.P., Langeveld A., ten Hoeve J., Wang Z., Roe B., Groffen J.
    Genomics 29:451-456(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region."
    Goldmuntz E., Wang Z., Roe B.A., Budarf M.L.
    Genomics 33:271-276(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Kidney.
  5. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANTS D2L2AD LEU-45; GLN-144; ARG-167; TRP-193; THR-202; CYS-282; GLY-282 AND CYS-297.

Entry informationi

Entry nameiTXTP_HUMAN
AccessioniPrimary (citable) accession number: P53007
Secondary accession number(s): A8K8E8, Q9BSK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 11, 2002
Last modified: September 3, 2014
This is version 138 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 22
    Human chromosome 22: 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

External Data

Dasty 3

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