UniProtKB - Q9BQT8 (ODC_HUMAN)
Protein
Mitochondrial 2-oxodicarboxylate carrier
Gene
SLC25A21
Organism
Homo sapiens (Human)
Status
Functioni
Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2-oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate.2 Publications
GO - Molecular functioni
- alpha-ketoglutarate transmembrane transporter activity Source: UniProtKB
- ATP transmembrane transporter activity Source: InterPro
GO - Biological processi
- lysine catabolic process Source: Reactome
Keywordsi
Biological process | Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9BQT8 |
Reactomei | R-HSA-71064, Lysine catabolism |
Protein family/group databases
TCDBi | 2.A.29.2.4, the mitochondrial carrier (mc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial 2-oxodicarboxylate carrierAlternative name(s): Solute carrier family 25 member 21 |
Gene namesi | Name:SLC25A21 Synonyms:ODC |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000183032.10 |
HGNCi | HGNC:14411, SLC25A21 |
MIMi | 607571, gene |
neXtProti | NX_Q9BQT8 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial inner membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 17 – 37 | Helical; Name=1Sequence analysisAdd BLAST | 21 | |
Transmembranei | 70 – 89 | Helical; Name=2Sequence analysisAdd BLAST | 20 | |
Transmembranei | 113 – 133 | Helical; Name=3Sequence analysisAdd BLAST | 21 | |
Transmembranei | 167 – 187 | Helical; Name=4Sequence analysisAdd BLAST | 21 | |
Transmembranei | 205 – 225 | Helical; Name=5Sequence analysisAdd BLAST | 21 | |
Transmembranei | 277 – 297 | Helical; Name=6Sequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial DNA depletion syndrome 18 (MTDPS18)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083870 | 232 | K → R in MTDPS18; loss of 2-oxoglutarate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1389068504EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 89874 |
MalaCardsi | SLC25A21 |
MIMi | 618811, phenotype |
OpenTargetsi | ENSG00000183032 |
PharmGKBi | PA37880 |
Miscellaneous databases
Pharosi | Q9BQT8, Tbio |
Chemistry databases
DrugBanki | DB09154, Sodium citrate |
Polymorphism and mutation databases
BioMutai | SLC25A21 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000090644 | 1 – 299 | Mitochondrial 2-oxodicarboxylate carrierAdd BLAST | 299 |
Proteomic databases
jPOSTi | Q9BQT8 |
MassIVEi | Q9BQT8 |
MaxQBi | Q9BQT8 |
PaxDbi | Q9BQT8 |
PeptideAtlasi | Q9BQT8 |
PRIDEi | Q9BQT8 |
ProteomicsDBi | 33264 78721 [Q9BQT8-1] |
PTM databases
iPTMneti | Q9BQT8 |
PhosphoSitePlusi | Q9BQT8 |
Expressioni
Tissue specificityi
Expressed in placenta, gall bladder and colon.1 Publication
Gene expression databases
Bgeei | ENSG00000183032, Expressed in liver and 127 other tissues |
Genevisiblei | Q9BQT8, HS |
Organism-specific databases
HPAi | ENSG00000183032, Tissue enhanced (testis) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124629, 11 interactors |
IntActi | Q9BQT8, 7 interactors |
STRINGi | 9606.ENSP00000329452 |
Miscellaneous databases
RNActi | Q9BQT8, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 11 – 100 | Solcar 1Add BLAST | 90 | |
Repeati | 107 – 196 | Solcar 2Add BLAST | 90 | |
Repeati | 205 – 294 | Solcar 3Add BLAST | 90 |
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0754, Eukaryota |
GeneTreei | ENSGT00730000111119 |
HOGENOMi | CLU_015166_5_2_1 |
InParanoidi | Q9BQT8 |
OMAi | KYNWTYP |
OrthoDBi | 1236425at2759 |
PhylomeDBi | Q9BQT8 |
TreeFami | TF314035 |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9BQT8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSAKPEVSLV REASRQIVAG GSAGLVEICL MHPLDVVKTR FQIQRCATDP
60 70 80 90 100
NSYKSLVDSF RMIFQMEGLF GFYKGILPPI LAETPKRAVK FFTFEQYKKL
110 120 130 140 150
LGYVSLSPAL TFAIAGLGSG LTEAIVVNPF EVVKVGLQAN RNTFAEQPST
160 170 180 190 200
VGYARQIIKK EGWGLQGLNK GLTATLGRHG VFNMVYFGFY YNVKNMIPVN
210 220 230 240 250
KDPILEFWRK FGIGLLSGTI ASVINIPFDV AKSRIQGPQP VPGEIKYRTC
260 270 280 290
FKTMATVYQE EGILALYKGL LPKIMRLGPG GAVMLLVYEY TYSWLQENW
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083870 | 232 | K → R in MTDPS18; loss of 2-oxoglutarate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1389068504EnsemblClinVar. | 1 | |
Natural variantiVAR_050131 | 299 | W → C. Corresponds to variant dbSNP:rs17104991Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046690 | 299 | Missing in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ278148 mRNA Translation: CAC27562.1 AK289575 mRNA Translation: BAF82264.1 AL079303 Genomic DNA No translation available. AL079304 Genomic DNA No translation available. AL121775 Genomic DNA No translation available. AL162464 Genomic DNA No translation available. BC101521 mRNA Translation: AAI01522.1 BC113365 mRNA Translation: AAI13366.1 |
CCDSi | CCDS55913.1 [Q9BQT8-2] CCDS9663.1 [Q9BQT8-1] |
RefSeqi | NP_001164641.1, NM_001171170.1 [Q9BQT8-2] NP_085134.1, NM_030631.3 [Q9BQT8-1] |
Genome annotation databases
Ensembli | ENST00000331299; ENSP00000329452; ENSG00000183032 [Q9BQT8-1] ENST00000555449; ENSP00000451873; ENSG00000183032 [Q9BQT8-2] |
GeneIDi | 89874 |
KEGGi | hsa:89874 |
UCSCi | uc001wtz.3, human [Q9BQT8-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ278148 mRNA Translation: CAC27562.1 AK289575 mRNA Translation: BAF82264.1 AL079303 Genomic DNA No translation available. AL079304 Genomic DNA No translation available. AL121775 Genomic DNA No translation available. AL162464 Genomic DNA No translation available. BC101521 mRNA Translation: AAI01522.1 BC113365 mRNA Translation: AAI13366.1 |
CCDSi | CCDS55913.1 [Q9BQT8-2] CCDS9663.1 [Q9BQT8-1] |
RefSeqi | NP_001164641.1, NM_001171170.1 [Q9BQT8-2] NP_085134.1, NM_030631.3 [Q9BQT8-1] |
3D structure databases
SMRi | Q9BQT8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124629, 11 interactors |
IntActi | Q9BQT8, 7 interactors |
STRINGi | 9606.ENSP00000329452 |
Chemistry databases
DrugBanki | DB09154, Sodium citrate |
Protein family/group databases
TCDBi | 2.A.29.2.4, the mitochondrial carrier (mc) family |
PTM databases
iPTMneti | Q9BQT8 |
PhosphoSitePlusi | Q9BQT8 |
Polymorphism and mutation databases
BioMutai | SLC25A21 |
Proteomic databases
jPOSTi | Q9BQT8 |
MassIVEi | Q9BQT8 |
MaxQBi | Q9BQT8 |
PaxDbi | Q9BQT8 |
PeptideAtlasi | Q9BQT8 |
PRIDEi | Q9BQT8 |
ProteomicsDBi | 33264 78721 [Q9BQT8-1] |
Protocols and materials databases
Antibodypediai | 32, 155 antibodies |
DNASUi | 89874 |
Genome annotation databases
Ensembli | ENST00000331299; ENSP00000329452; ENSG00000183032 [Q9BQT8-1] ENST00000555449; ENSP00000451873; ENSG00000183032 [Q9BQT8-2] |
GeneIDi | 89874 |
KEGGi | hsa:89874 |
UCSCi | uc001wtz.3, human [Q9BQT8-1] |
Organism-specific databases
CTDi | 89874 |
DisGeNETi | 89874 |
EuPathDBi | HostDB:ENSG00000183032.10 |
GeneCardsi | SLC25A21 |
HGNCi | HGNC:14411, SLC25A21 |
HPAi | ENSG00000183032, Tissue enhanced (testis) |
MalaCardsi | SLC25A21 |
MIMi | 607571, gene 618811, phenotype |
neXtProti | NX_Q9BQT8 |
OpenTargetsi | ENSG00000183032 |
PharmGKBi | PA37880 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0754, Eukaryota |
GeneTreei | ENSGT00730000111119 |
HOGENOMi | CLU_015166_5_2_1 |
InParanoidi | Q9BQT8 |
OMAi | KYNWTYP |
OrthoDBi | 1236425at2759 |
PhylomeDBi | Q9BQT8 |
TreeFami | TF314035 |
Enzyme and pathway databases
PathwayCommonsi | Q9BQT8 |
Reactomei | R-HSA-71064, Lysine catabolism |
Miscellaneous databases
BioGRID-ORCSi | 89874, 2 hits in 844 CRISPR screens |
ChiTaRSi | SLC25A21, human |
GeneWikii | SLC25A21 |
GenomeRNAii | 89874 |
Pharosi | Q9BQT8, Tbio |
PROi | PR:Q9BQT8 |
RNActi | Q9BQT8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000183032, Expressed in liver and 127 other tissues |
Genevisiblei | Q9BQT8, HS |
Family and domain databases
Gene3Di | 1.50.40.10, 1 hit |
InterProi | View protein in InterPro IPR002067, Mit_carrier IPR018108, Mitochondrial_sb/sol_carrier IPR023395, Mt_carrier_dom_sf |
Pfami | View protein in Pfam PF00153, Mito_carr, 3 hits |
PRINTSi | PR00926, MITOCARRIER |
SUPFAMi | SSF103506, SSF103506, 1 hit |
PROSITEi | View protein in PROSITE PS50920, SOLCAR, 3 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ODC_HUMAN | |
Accessioni | Q9BQT8Primary (citable) accession number: Q9BQT8 Secondary accession number(s): A8K0L0, G3V4L5, Q3MJ99 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 11, 2002 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations