Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACMSD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACMSD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | The effect of age on the enzyme activities of tryptophan metabolism along the kynurenine pathway in rats. | Comai S, etal., Clin Chim Acta. 2005 Oct;360(1-2):67-80. doi: 10.1016/j.cccn.2005.04.013. |
2. | Tryptophan-niacin metabolism in rat with puromycin aminonucleoside-induced nephrosis. | Egashira Y, etal., Int J Vitam Nutr Res. 2006 Jan;76(1):28-33. doi: 10.1024/0300-9831.76.1.28. |
3. | Identification and expression of a cDNA encoding human alpha-amino-beta-carboxymuconate-epsilon-semialdehyde decarboxylase (ACMSD). A key enzyme for the tryptophan-niacine pathway and "quinolinate hypothesis". | Fukuoka S, etal., J Biol Chem 2002 Sep 20;277(38):35162-7. |
4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
5. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
6. | The kynurenine pathway and neurodegenerative disease. | Maddison DC and Giorgini F, Semin Cell Dev Biol. 2015 Apr;40:134-41. doi: 10.1016/j.semcdb.2015.03.002. Epub 2015 Mar 12. |
7. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
8. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
9. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
10. | GOA pipeline | RGD automated data pipeline |
11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
13. | Comprehensive gene review and curation | RGD comprehensive gene curation |
14. | Mechanism of increases in L-kynurenine and quinolinic acid in renal insufficiency. | Saito K, etal., Am J Physiol Renal Physiol. 2000 Sep;279(3):F565-72. doi: 10.1152/ajprenal.2000.279.3.F565. |
15. | Production of L-tryptophan-derived catabolites in hepatocytes from streptozotocin-induced diabetic rats. | Sasaki N, etal., Eur J Nutr. 2009 Apr;48(3):145-53. doi: 10.1007/s00394-009-0774-7. Epub 2009 Jan 23. |
16. | Purification and molecular cloning of rat 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase. | Tanabe A, etal., Biochem J 2002 Feb 1;361(Pt 3):567-75. |
17. | Expression of rat hepatic 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase is affected by a high protein diet and by streptozotocin-induced diabetes. | Tanabe A, etal., J Nutr. 2002 Jun;132(6):1153-9. doi: 10.1093/jn/132.6.1153. |
PMID:17288562 | PMID:19843166 | PMID:23376485 | PMID:25289390 | PMID:25392945 |
Acmsd (Rattus norvegicus - Norway rat) |
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ACMSD (Homo sapiens - human) |
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Acmsd (Mus musculus - house mouse) |
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Acmsd (Chinchilla lanigera - long-tailed chinchilla) |
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ACMSD (Pan paniscus - bonobo/pygmy chimpanzee) |
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ACMSD (Canis lupus familiaris - dog) |
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Acmsd (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ACMSD (Sus scrofa - pig) |
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ACMSD (Chlorocebus sabaeus - green monkey) |
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Acmsd (Heterocephalus glaber - naked mole-rat) |
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Variants in Acmsd
251 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 10 | 10 | 10 | 21 | |||||||||
Low | 10 | 18 | 11 | 7 | 11 | 8 | 7 | 4 | |||||
Below cutoff | 2 | 9 | 11 | 2 | 10 | 2 | 7 | 8 | 9 | 4 | 19 | 7 | 7 |
RefSeq Transcripts | NM_134372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AB069781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAXUCZ010000013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000005206 ⟹ ENSRNOP00000005206 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000097274 ⟹ ENSRNOP00000079363 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000109111 ⟹ ENSRNOP00000081182 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000119830 ⟹ ENSRNOP00000088596 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_134372 ⟹ NP_599199 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_599199 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | BAB84692 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000005206.7 | ||
ENSRNOP00000079363.1 | |||
ENSRNOP00000081182 | |||
ENSRNOP00000081182.1 | |||
ENSRNOP00000088596.1 | |||
ENSRNOP00055017771 | |||
ENSRNOP00060007639 | |||
ENSRNOP00065011721 | |||
GenBank Protein | Q8R5M5 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_599199 ⟸ NM_134372 |
- UniProtKB: | Q8R5M5 (UniProtKB/Swiss-Prot), A6IBV8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000005206 ⟸ ENSRNOT00000005206 |
RefSeq Acc Id: | ENSRNOP00000081182 ⟸ ENSRNOT00000109111 |
RefSeq Acc Id: | ENSRNOP00000088596 ⟸ ENSRNOT00000119830 |
RefSeq Acc Id: | ENSRNOP00000079363 ⟸ ENSRNOT00000097274 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8R5M5-F1-model_v2 | AlphaFold | Q8R5M5 | 1-336 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13698775 | ||||||||
Promoter ID: | EPDNEW_R9300 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Acmsd_1 | ||||||||
Description: | aminocarboxymuconate semialdehyde decarboxylase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | RGD:620868 | AgrOrtholog |
BioCyc Gene | G2FUF-18436 | BioCyc |
BioCyc Pathway | PWY-5652 [2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA] | BioCyc |
BioCyc Pathway Image | PWY-5652 | BioCyc |
Ensembl Genes | ENSRNOG00000003884 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055012818 | UniProtKB/Swiss-Prot | |
ENSRNOG00060006187 | UniProtKB/Swiss-Prot | |
ENSRNOG00065009677 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000005206.7 | UniProtKB/TrEMBL |
ENSRNOT00000097274.1 | UniProtKB/TrEMBL | |
ENSRNOT00000109111 | ENTREZGENE | |
ENSRNOT00000109111.1 | UniProtKB/Swiss-Prot | |
ENSRNOT00000119830.1 | UniProtKB/TrEMBL | |
ENSRNOT00055021929 | UniProtKB/Swiss-Prot | |
ENSRNOT00060010243 | UniProtKB/Swiss-Prot | |
ENSRNOT00065015547 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Metal-dependent hydrolases | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
InterPro | ACMSD | UniProtKB/TrEMBL, UniProtKB/Swiss-Prot |
Amidohydro-rel | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Metal_Hydrolase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:171385 | UniProtKB/Swiss-Prot |
NCBI Gene | 171385 | ENTREZGENE |
PANTHER | 2-AMINO-3-CARBOXYMUCONATE-6-SEMIALDEHYDE DECARBOXYLASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR21240 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Amidohydro_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Acmsd | PhenoGen |
RatGTEx | ENSRNOG00000003884 | RatGTEx |
ENSRNOG00055012818 | RatGTEx | |
ENSRNOG00060006187 | RatGTEx | |
ENSRNOG00065009677 | RatGTEx | |
Superfamily-SCOP | SSF51556 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I5ZMP7_RAT | UniProtKB/TrEMBL |
A0A8I6AJ63_RAT | UniProtKB/TrEMBL | |
A6IBV8 | ENTREZGENE, UniProtKB/TrEMBL | |
A9CMA9_RAT | UniProtKB/TrEMBL | |
ACMSD_RAT | UniProtKB/Swiss-Prot | |
F8WFI2_RAT | UniProtKB/TrEMBL | |
Q8R5M5 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-02-25 | Acmsd | aminocarboxymuconate semialdehyde decarboxylase | Acmsd | 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2004-12-14 | Acmsd | 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase | Symbol and Name status set to approved | 1299863 | APPROVED | ||
2002-08-07 | acmsd | 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
Note Type | Note | Reference |
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gene_disease | involved in diabetes | 70243 |
gene_expression | expressed in liver and kidney only | 70243 |
gene_function | converts 2-amino-3-carboxymuconate-6-semialdehyde to 2-aminomuconate-6-semialdehyde | 70243 |
gene_process | may function in tryptophan-niacin metabolism | 70243 |