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This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013] See more...
Aliases for DHTKD1 Gene
Aliases for DHTKD1 Gene
External Ids for DHTKD1 Gene
- HGNC: 23537
- NCBI Entrez Gene: 55526
- Ensembl: ENSG00000181192
- OMIM®: 614984
- UniProtKB/Swiss-Prot: Q96HY7
Previous GeneCards Identifiers for DHTKD1 Gene
- GC10P012114
- GC10P012150
- GC10P012028
- GC10P012110
Summaries for DHTKD1 Gene
-
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
GeneCards Summary for DHTKD1 Gene
DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1) is a Protein Coding gene. Diseases associated with DHTKD1 include 2-Aminoadipic 2-Oxoadipic Aciduria and Charcot-Marie-Tooth Disease, Axonal, Type 2Q. Among its related pathways are Lysine degradation and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor and oxoglutarate dehydrogenase (succinyl-transferring) activity. An important paralog of this gene is OGDH.
UniProtKB/Swiss-Prot Summary for DHTKD1 Gene
-
The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).
Additional gene information for DHTKD1 Gene
- HGNC (23537)
- NCBI Entrez Gene (55526)
- Ensembl (ENSG00000181192)
- OMIM® (614984)
- UniProtKB/Swiss-Prot (Q96HY7)
- Open Targets Platform(ENSG00000181192)
- Monarch Initiative
- Alliance of Genome Resources
- Search for DHTKD1 at DataMed
- Search for DHTKD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DHTKD1 Gene
Genomics for DHTKD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DHTKD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DHTKD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DHTKD1
- Top Transcription factor binding sites by QIAGEN in the DHTKD1 gene promoter:
-
- AP-2gamma
- CBF(2)
- FOXJ2
- FOXJ2 (long isoform)
- NF-Y
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- PPAR-gamma1
- PPAR-gamma2
Genomic Locations for DHTKD1 Gene
Latest Assembly
- chr10:12,068,954-12,123,221
- (GRCh38/hg38)
- Size:
- 54,268 bases
- Orientation:
- Plus strand
Previous Assembly
- chr10:12,110,953-12,165,220
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 54,268 bases
- Orientation:
- Plus strand
Genomic View for DHTKD1 Gene
Genes around DHTKD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p14 by HGNC
- 10p14 by Entrez Gene
- 10p14 by Ensembl
DHTKD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DHTKD1 Gene
Proteins for DHTKD1 Gene
-
Protein details for DHTKD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96HY7-DHTK1_HUMAN
- Recommended name:
- Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
- Protein Accession:
- Q96HY7
- Q68CU5
- Q9BUM8
- Q9HCE2
Protein attributes for DHTKD1 Gene
- Size:
- 919 amino acids
- Molecular mass:
- 103077 Da
- Cofactor:
- Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAB13456.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13456.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. C-terminal exons are derived from the neighboring gene.; Evidence={ECO:0000305};
Protein Expression for DHTKD1 Gene
Selected DME Specific Peptides for DHTKD1 Gene
- Q96HY7:
-
- RLSGQDV
- LPHGYDG
- CLQVHGDAS
- ETFTLSNLPH
- HLIVNNQLGYTTPAERGRSSLY
- WEAQFGDFFNGAQII
- EEGVDGDTVNM
- DHGLARLV
- VLGFEYG
- GKTRGRQQ
- TERGVYGYRP
- QEEPQNMG
- TVKRYGGEGAESM
- FHLLRRQ
- NPSHLEAVNP
- QKGFLEVSNS
- NPVAVGKTR
- ERFLQMC
Post-translational modifications for DHTKD1 Gene
Other Protein References for DHTKD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for DHTKD1
- Novus Biologicals Antibodies for DHTKD1
-
Abcam antibodies for DHTKD1
- Invitrogen Antibodies for DHTKD1 (AFLGC-DHTKD1)
-
Boster Bio Antibodies for DHTKD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DHTKD1
- Sino Biological Antibodies for DHTKD1
Protein products for research
-
OriGene Purified Proteins for DHTKD1
- Search Origene for MassSpec and Protein Over-expression Lysates for DHTKD1
- Origene Custom Protein Services for DHTKD1
-
Abcam proteins for DHTKD1
Assay products for research
- antibodies-online: Show 6 available DHTKD1 Elisa Kits ranked by validation data
- Compare Top DHTKD1 Elisa Kits
-
Quality Products:
Domains & Families for DHTKD1 Gene
Gene Families for DHTKD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DHTKD1 Gene
Suggested Antigen Peptide Sequences for DHTKD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Dehydrogenase E1 and transketolase domain-containing protein 1 (DHTK1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96HY7- Family:
-
- Belongs to the alpha-ketoglutarate dehydrogenase family.
Function for DHTKD1 Gene
Molecular function for DHTKD1 Gene
- UniProtKB/Swiss-Prot Function:
- The 2-oxoglutarate dehydrogenase complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). It contains multiple copies of three enzymatic components: 2-oxoglutarate dehydrogenase (E1), dihydrolipoamide succinyltransferase (E2) and lipoamide dehydrogenase (E3) (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2-oxoglutarate + [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-lipoyl-L-lysine + H(+) = [dihydrolipoyllysine-residue succinyltransferase]-(R)-N(6)-(S(8)-succinyldihydrolipoyl)-L-lysine + CO2; Xref=Rhea:RHEA:12188, Rhea:RHEA-COMP:10483, Rhea:RHEA-COMP:10484, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:83099, ChEBI:CHEBI:83120; EC=1.2.4.2;.
Enzyme Numbers (IUBMB) for DHTKD1 Gene
Phenotypes From GWAS Catalog for DHTKD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004591 | oxoglutarate dehydrogenase (succinyl-transferring) activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016624 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor | IEA | -- |
| GO:0030976 | thiamine pyrophosphate binding | IEA | -- |
Phenotypes for DHTKD1 Gene
- MGI mutant phenotypes for DHTKD1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for DHTKD1:
Animal Models for DHTKD1 Gene
- MGI Knock Outs for DHTKD1:
-
- Dhtkd1 Dhtkd1<tm1Zgwg>
Animal Models for research
-
Taconic Biosciences Mouse Models for DHTKD1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DHTKD1 - Starting at $85 >
- * DHTKD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DHTKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DHTKD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHTKD1
miRNA for DHTKD1 Gene
- miRTarBase miRNAs that target DHTKD1
-
- hsa-miR-1296-5p (MIRT036136)
- hsa-miR-92a-3p (MIRT049034)
- hsa-miR-16-5p (MIRT051121)
- hsa-let-7b-5p (MIRT052332)
- hsa-miR-129-5p (MIRT615991)
- hsa-miR-1228-5p (MIRT615992)
- hsa-miR-6881-5p (MIRT615993)
- hsa-miR-6787-5p (MIRT615994)
- hsa-miR-663a (MIRT615995)
- hsa-miR-1908-5p (MIRT615996)
- hsa-miR-7150 (MIRT630482)
- hsa-miR-4736 (MIRT630483)
- hsa-miR-4763-3p (MIRT630484)
- hsa-miR-1207-5p (MIRT630485)
- hsa-miR-4695-3p (MIRT630486)
- hsa-miR-4772-3p (MIRT630487)
- hsa-miR-6787-3p (MIRT630488)
- hsa-miR-1304-3p (MIRT630489)
- hsa-miR-6736-3p (MIRT630490)
- hsa-miR-6890-3p (MIRT630491)
- hsa-miR-4482-3p (MIRT659015)
- hsa-miR-7159-3p (MIRT659016)
- hsa-miR-1238-3p (MIRT659017)
- hsa-miR-670-3p (MIRT659018)
- hsa-miR-4753-3p (MIRT659019)
- hsa-miR-6873-3p (MIRT659020)
- hsa-miR-6881-3p (MIRT659021)
- hsa-miR-6780a-3p (MIRT659022)
- hsa-miR-7111-3p (MIRT659023)
- hsa-miR-130b-5p (MIRT659024)
- hsa-miR-6817-3p (MIRT659025)
- hsa-miR-7110-3p (MIRT659026)
- hsa-miR-138-2-3p (MIRT659027)
- hsa-miR-6769b-3p (MIRT659028)
- hsa-miR-4723-3p (MIRT659029)
- hsa-miR-3183 (MIRT659030)
- hsa-miR-6878-3p (MIRT659031)
- hsa-miR-640 (MIRT659032)
- hsa-miR-378a-5p (MIRT659033)
- hsa-miR-6778-3p (MIRT659034)
- hsa-miR-6821-3p (MIRT659035)
- hsa-miR-6790-3p (MIRT659036)
- hsa-miR-3653-5p (MIRT659037)
- hsa-miR-150-5p (MIRT659038)
- hsa-miR-212-5p (MIRT659039)
- hsa-miR-186-3p (MIRT659040)
- hsa-miR-6849-3p (MIRT659041)
- hsa-miR-764 (MIRT659042)
- hsa-miR-125a-3p (MIRT659043)
- hsa-miR-1226-3p (MIRT659044)
- hsa-miR-5585-3p (MIRT678703)
- hsa-miR-6783-3p (MIRT678704)
- hsa-miR-4279 (MIRT678705)
- hsa-miR-1343-3p (MIRT678706)
- hsa-miR-23b-5p (MIRT678707)
- hsa-miR-23a-5p (MIRT678708)
- hsa-miR-1976 (MIRT678709)
- hsa-miR-6742-3p (MIRT678710)
- hsa-miR-6852-5p (MIRT678711)
- hsa-miR-939-3p (MIRT678712)
- hsa-miR-6747-3p (MIRT678713)
- hsa-miR-6727-3p (MIRT678714)
- hsa-miR-4722-3p (MIRT678715)
- hsa-miR-660-3p (MIRT678716)
- hsa-miR-3934-5p (MIRT743095)
- hsa-miR-5586-5p (MIRT750998)
- hsa-miR-6512-3p (MIRT753217)
- hsa-miR-6720-5p (MIRT753749)
- hsa-miR-6746-3p (MIRT754484)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DHTKD1
- Browse OriGene Inhibitory RNA Products For DHTKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHTKD1
Clone products for research
- Applied Biological Materials (abm): Clones for DHTKD1 - Starting at $45 >
- * DHTKD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DHTKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DHTKD1
Cell Lines for research
-
Horizon Cell Lines for DHTKD1
No data available for Transcription Factor Targets and HOMER Transcription for DHTKD1 Gene
Localization for DHTKD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DHTKD1 Gene
- Mitochondrion.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | 23141294 |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for DHTKD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Lysine degradation | ||
| 3 | Tryptophan metabolism | ||
| 4 | Glyoxylate metabolism and glycine degradation | ||
| 5 | Viral mRNA Translation | ||
Pathways by source for DHTKD1 Gene
1 BioSystems pathway for DHTKD1 Gene
3 Reactome pathways for DHTKD1 Gene
3 KEGG pathways for DHTKD1 Gene
Interacting Proteins for DHTKD1 Gene
Selected Interacting proteins:
Q96HY7-DHTK1_HUMAN
ENSP00000263035
for DHTKD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DHTKD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
| GO:0006091 | generation of precursor metabolites and energy | IMP | 23141294 |
| GO:0006096 | glycolytic process | IEA | -- |
| GO:0006099 | tricarboxylic acid cycle | IEA | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for DHTKD1 Gene
Transcripts for DHTKD1 Gene
mRNA/cDNA for DHTKD1 Gene
- 1 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263035 5173 nts (view in UCSC)
- ENST00000415935 482 nts (view in UCSC)
- ENST00000437298 933 nts (view in UCSC)
- ENST00000448829 787 nts (view in UCSC)
- ENST00000465617 773 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DHTKD1 - Starting at $85 >
- * DHTKD1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DHTKD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DHTKD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for DHTKD1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DHTKD1
- Browse OriGene Inhibitory RNA Products For DHTKD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DHTKD1
Clone products for research
- Applied Biological Materials (abm): Clones for DHTKD1 - Starting at $45 >
- * DHTKD1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DHTKD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DHTKD1
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
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| SP3: | |||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||
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| SP7: | - | - | |||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for DHTKD1 Gene
- GeneLoc Exon Structure for
- DHTKD1
Expression for DHTKD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Liver (Hepatobiliary System)
mRNA differential expression in normal tissues according to GTEx for DHTKD1 Gene
This gene is overexpressed in Liver (x7.0).
This gene is overexpressed in Liver (16.9), Salivary gland (9.6), Lymph node (8.4), and Liver, secretome (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DHTKD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DHTKD1
SOURCE GeneReport for Unigene cluster for DHTKD1 Gene:
Hs.104980Evidence on tissue expression from TISSUES for DHTKD1 Gene
- Liver(4.6)
- Kidney(4.5)
- Nervous system(4.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DHTKD1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- head
- skull
Abdomen:
- kidney
Primer products for research
-
OriGene qPCR primer pairs for DHTKD1
-
OriGene qPCR primer pairs and template standards for DHTKD1
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt for DHTKD1 Gene
Orthologs for DHTKD1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DHTKD1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DHTKD1 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DHTKD1 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DHTKD1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dhtkd1 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | DHTKD1 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dhtkd1 29 16 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DHTKD1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DHTKD1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dhtkd1 29 |
|
||
| Str.17401 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4843 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dhtkd1 29 30 |
|
OneToOne | |
| Dr.13396 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG1544 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000551 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | ZK836.2 29 30 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KGD1 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1194 30 |
|
OneToOne |
- Species where no ortholog for DHTKD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for DHTKD1 Gene
- ENSEMBL:
- Gene Tree for DHTKD1 (if available)
- TreeFam:
- Gene Tree for DHTKD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DHTKD1: view image
- Alliance of Genome Resources:
- Additional Orthologs for DHTKD1
Paralogs for DHTKD1 Gene
Variants for DHTKD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DHTKD1 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1003069 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,118,923(+) |
G/A NM_018706.7(DHTKD1):c.2572+5G>A |
INTRON | |
| 1009821 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,113,064(+) |
G/A NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=) |
SYNONYMOUS | |
| 1013563 | Likely Benign: not provided | 12,069,042(+) |
T/A NM_018706.7(DHTKD1):c.9T>A (p.Ser3=) |
SYNONYMOUS | |
| 1013654 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,091,592(+) |
T/C NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr) |
MISSENSE | |
| 1023096 | Uncertain Significance: 2-aminoadipic 2-oxoadipic aciduria | 12,117,743(+) |
T/C NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv120e199 | CNV | deletion | 23128226 |
| dgv37n21 | CNV | gain | 19592680 |
| dgv673n100 | CNV | gain | 25217958 |
| dgv674n100 | CNV | gain | 25217958 |
| dgv67n27 | CNV | gain | 19166990 |
| dgv956n54 | CNV | gain | 21841781 |
| esv2673758 | CNV | deletion | 23128226 |
| esv2733084 | CNV | deletion | 23290073 |
| esv2761574 | CNV | loss | 21179565 |
| esv3622354 | CNV | gain | 21293372 |
| esv3622355 | CNV | gain | 21293372 |
| esv3622356 | CNV | loss | 21293372 |
| esv3622357 | CNV | gain | 21293372 |
| esv3622358 | CNV | loss | 21293372 |
| esv3622359 | CNV | loss | 21293372 |
| esv3622360 | CNV | gain | 21293372 |
| esv3622361 | CNV | loss | 21293372 |
| esv3891755 | CNV | loss | 25118596 |
| nsv1035709 | CNV | gain | 25217958 |
| nsv1035894 | CNV | gain | 25217958 |
| nsv1046396 | CNV | gain | 25217958 |
| nsv470919 | CNV | gain | 18288195 |
| nsv818745 | CNV | gain | 17921354 |
| nsv831785 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
11.93;
93.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DHTKD1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHTKD1 Gene
Disorders for DHTKD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| 2-aminoadipic 2-oxoadipic aciduria |
|
|
| charcot-marie-tooth disease, axonal, type 2q |
|
|
| tooth disease |
|
|
| charcot-marie-tooth disease |
|
|
| hyperlysinemia, type i |
|
|
Search DHTKD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
DHTK1_HUMAN- Charcot-Marie-Tooth disease 2Q (CMT2Q) [MIM:615025]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:23141294}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269 PubMed:23141293}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for DHTKD1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for DHTKD1 Gene
Publications for DHTKD1 Gene
- A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. (PMID: 23141294) Xu WY … Wang ZG (American journal of human genetics 2012) 3 4 72
- DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. (PMID: 23141293) Danhauser K … Kölker S (American journal of human genetics 2012) 3 4 72
- Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 40
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
ExternalLinks
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