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InnateDB Protein
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IDBP-591810.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ALDH6A1
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Protein Name
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aldehyde dehydrogenase 6 family, member A1
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Synonyms
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MMSADHA; MMSDH;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000450436
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InnateDB Gene
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IDBG-11882 (ALDH6A1)
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Protein Structure
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| Function |
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
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| Subcellular Localization |
Mitochondrion.
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| Disease Associations |
Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. {ECO:0000269PubMed:10947204}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
| Experimentally validated |
| Total |
2
[view]
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| Protein-Protein |
2
[view]
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| Protein-DNA |
0
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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Molecular Function |
| Accession |
GO Term |
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GO:0000062
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fatty-acyl-CoA binding
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GO:0004491
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methylmalonate-semialdehyde dehydrogenase (acylating) activity
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GO:0016491
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oxidoreductase activity
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GO:0018478
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malonate-semialdehyde dehydrogenase (acetylating) activity
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GO:0044822
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poly(A) RNA binding
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR010061
Methylmalonate-semialdehyde dehydrogenase
IPR015590
Aldehyde dehydrogenase domain
IPR016161
Aldehyde/histidinol dehydrogenase
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| PFAM |
PF00171
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q02252
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| PhosphoSite |
PhosphoSite-Q02252
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| TrEMBL |
G3V4Z4
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| UniProt Splice Variant |
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| Entrez Gene |
4329
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| UniGene |
Hs.732227
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| RefSeq |
NP_005580
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| HUGO |
HGNC:7179
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| OMIM |
603178
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| CCDS |
CCDS9826
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| HPRD |
04416
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| IMGT |
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| EMBL |
AC005484
AF148505
AF148855
AF159889
AJ249994
AK294243
AK312389
BC004909
BC032371
CH471061
M93405
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| GenPept |
AAA36328
AAF04489
AAF80380
AAG29581
AAH04909
AAH32371
BAG35306
BAG57539
CAB76468
EAW81159
EAW81160
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