UniProtKB - Q02252 (MMSA_HUMAN)
Protein
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
Gene
ALDH6A1
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA.
Catalytic activityi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 317 | NucleophilePROSITE-ProRule annotation | 1 | |
Binding sitei | 417 | NADSequence analysis | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 209 – 213 | NADSequence analysis | 5 | |
Nucleotide bindingi | 261 – 266 | NADSequence analysis | 6 |
GO - Molecular functioni
- fatty-acyl-CoA binding Source: UniProtKB
- malonate-semialdehyde dehydrogenase (acetylating) activity Source: UniProtKB
- methylmalonate-semialdehyde dehydrogenase (acylating) activity Source: BHF-UCL
- RNA binding Source: UniProtKB
GO - Biological processi
- branched-chain amino acid catabolic process Source: Reactome
- brown fat cell differentiation Source: Ensembl
- thymine catabolic process Source: BHF-UCL
- thymine metabolic process Source: UniProtKB
- valine catabolic process Source: BHF-UCL
- valine metabolic process Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase |
Ligand | NAD |
Enzyme and pathway databases
BRENDAi | 1.2.1.18, 2681 1.2.1.27, 2681 |
PathwayCommonsi | Q02252 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:ALDH6A1 Synonyms:MMSDH |
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
HGNCi | HGNC:7179, ALDH6A1 |
MIMi | 603178, gene |
neXtProti | NX_Q02252 |
VEuPathDBi | HostDB:ENSG00000119711.12 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: HPA
Nucleus
- nucleoplasm Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010244 | 446 | G → R in MMSDHD. 1 PublicationCorresponds to variant dbSNP:rs72552258EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4329 |
MalaCardsi | ALDH6A1 |
MIMi | 614105, phenotype |
OpenTargetsi | ENSG00000119711 |
Orphaneti | 289307, Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
PharmGKBi | PA24703 |
Miscellaneous databases
Pharosi | Q02252, Tbio |
Chemistry databases
DrugBanki | DB00157, NADH |
Genetic variation databases
BioMutai | ALDH6A1 |
DMDMi | 12643424 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 33 | MitochondrionBy similarityAdd BLAST | 33 | |
ChainiPRO_0000007189 | 34 – 535 | Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrialAdd BLAST | 502 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 47 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 47 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 52 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 52 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 55 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 55 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 76 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 76 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 87 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 117 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 117 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 129 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 129 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 262 | PhosphoserineCombined sources | 1 | |
Modified residuei | 298 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 330 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 331 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 364 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 364 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 376 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 376 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 380 | PhosphoserineCombined sources | 1 | |
Modified residuei | 391 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 500 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 517 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q02252 |
jPOSTi | Q02252 |
MassIVEi | Q02252 |
MaxQBi | Q02252 |
PaxDbi | Q02252 |
PeptideAtlasi | Q02252 |
PRIDEi | Q02252 |
ProteomicsDBi | 58069 [Q02252-1] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00024990 |
UCD-2DPAGEi | Q02252 |
PTM databases
iPTMneti | Q02252 |
MetOSitei | Q02252 |
PhosphoSitePlusi | Q02252 |
SwissPalmi | Q02252 |
Expressioni
Gene expression databases
Bgeei | ENSG00000119711, Expressed in cortex of kidney and 256 other tissues |
ExpressionAtlasi | Q02252, baseline and differential |
Genevisiblei | Q02252, HS |
Organism-specific databases
HPAi | ENSG00000119711, Group enriched (kidney, liver) |
Interactioni
Subunit structurei
Homotetramer.
Protein-protein interaction databases
BioGRIDi | 110472, 21 interactors |
IntActi | Q02252, 9 interactors |
MINTi | Q02252 |
STRINGi | 9606.ENSP00000450436 |
Miscellaneous databases
RNActi | Q02252, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the aldehyde dehydrogenase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2449, Eukaryota |
GeneTreei | ENSGT00940000156110 |
InParanoidi | Q02252 |
OMAi | LWRETDV |
PhylomeDBi | Q02252 |
TreeFami | TF105651 |
Family and domain databases
CDDi | cd07085, ALDH_F6_MMSDH, 1 hit |
Gene3Di | 3.40.309.10, 1 hit 3.40.605.10, 1 hit |
InterProi | View protein in InterPro IPR016161, Ald_DH/histidinol_DH IPR016163, Ald_DH_C IPR016160, Ald_DH_CS_CYS IPR016162, Ald_DH_N IPR015590, Aldehyde_DH_dom IPR010061, MeMal-semiAld_DH |
PANTHERi | PTHR43866, PTHR43866, 1 hit |
Pfami | View protein in Pfam PF00171, Aldedh, 1 hit |
SUPFAMi | SSF53720, SSF53720, 1 hit |
TIGRFAMsi | TIGR01722, MMSDH, 1 hit |
PROSITEi | View protein in PROSITE PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q02252-1) [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
MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE
60 70 80 90 100
SKSDKWIDIH NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS
110 120 130 140 150
RQQVLLRYQQ LIKENLKEIA KLITLEQGKT LADAEGDVFR GLQVVEHACS
160 170 180 190 200
VTSLMMGETM PSITKDMDLY SYRLPLGVCA GIAPFNFPAM IPLWMFPMAM
210 220 230 240 250
VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG QHEAVNFICD
260 270 280 290 300
HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN
310 320 330 340 350
TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ
360 370 380 390 400
PGADLGPLIT PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG
410 420 430 440 450
PTIISNVKPN MTCYKEEIFG PVLVVLETET LDEAIQIVNN NPYGNGTAIF
460 470 480 490 500
TTNGATARKY AHLVDVGQVG VNVPIPVPLP MFSFTGSRSS FRGDTNFYGK
510 520 530
QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketG3V4Z4 | G3V4Z4_HUMAN | Methylmalonate-semialdehyde dehydro... | ALDH6A1 | 252 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 101 | R → C in BAG57539 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 212 | E → K in BAG57539 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 460 | Y → H in BAG57539 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010244 | 446 | G → R in MMSDHD. 1 PublicationCorresponds to variant dbSNP:rs72552258EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055067 | 104 – 116 | Missing in isoform 2. 1 PublicationAdd BLAST | 13 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ249994 mRNA Translation: CAB76468.1 AF159889 mRNA Translation: AAF80380.1 AF148505 mRNA Translation: AAF04489.1 AF148855 Genomic DNA Translation: AAG29581.1 AK312389 mRNA Translation: BAG35306.1 AK294243 mRNA Translation: BAG57539.1 AC005484 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81159.1 BC004909 mRNA Translation: AAH04909.1 BC032371 mRNA Translation: AAH32371.1 M93405 mRNA Translation: AAA36328.1 |
CCDSi | CCDS61501.1 [Q02252-2] CCDS9826.1 [Q02252-1] |
RefSeqi | NP_001265522.1, NM_001278593.1 [Q02252-2] NP_005580.1, NM_005589.3 [Q02252-1] |
Genome annotation databases
Ensembli | ENST00000350259; ENSP00000342564; ENSG00000119711 [Q02252-2] ENST00000553458; ENSP00000450436; ENSG00000119711 [Q02252-1] |
GeneIDi | 4329 |
KEGGi | hsa:4329 |
UCSCi | uc001xpo.5, human [Q02252-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ249994 mRNA Translation: CAB76468.1 AF159889 mRNA Translation: AAF80380.1 AF148505 mRNA Translation: AAF04489.1 AF148855 Genomic DNA Translation: AAG29581.1 AK312389 mRNA Translation: BAG35306.1 AK294243 mRNA Translation: BAG57539.1 AC005484 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW81159.1 BC004909 mRNA Translation: AAH04909.1 BC032371 mRNA Translation: AAH32371.1 M93405 mRNA Translation: AAA36328.1 |
CCDSi | CCDS61501.1 [Q02252-2] CCDS9826.1 [Q02252-1] |
RefSeqi | NP_001265522.1, NM_001278593.1 [Q02252-2] NP_005580.1, NM_005589.3 [Q02252-1] |
3D structure databases
SMRi | Q02252 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110472, 21 interactors |
IntActi | Q02252, 9 interactors |
MINTi | Q02252 |
STRINGi | 9606.ENSP00000450436 |
Chemistry databases
DrugBanki | DB00157, NADH |
PTM databases
iPTMneti | Q02252 |
MetOSitei | Q02252 |
PhosphoSitePlusi | Q02252 |
SwissPalmi | Q02252 |
Genetic variation databases
BioMutai | ALDH6A1 |
DMDMi | 12643424 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00024990 |
UCD-2DPAGEi | Q02252 |
Proteomic databases
EPDi | Q02252 |
jPOSTi | Q02252 |
MassIVEi | Q02252 |
MaxQBi | Q02252 |
PaxDbi | Q02252 |
PeptideAtlasi | Q02252 |
PRIDEi | Q02252 |
ProteomicsDBi | 58069 [Q02252-1] |
Protocols and materials databases
Antibodypediai | 25547, 487 antibodies |
DNASUi | 4329 |
Genome annotation databases
Ensembli | ENST00000350259; ENSP00000342564; ENSG00000119711 [Q02252-2] ENST00000553458; ENSP00000450436; ENSG00000119711 [Q02252-1] |
GeneIDi | 4329 |
KEGGi | hsa:4329 |
UCSCi | uc001xpo.5, human [Q02252-1] |
Organism-specific databases
CTDi | 4329 |
DisGeNETi | 4329 |
GeneCardsi | ALDH6A1 |
HGNCi | HGNC:7179, ALDH6A1 |
HPAi | ENSG00000119711, Group enriched (kidney, liver) |
MalaCardsi | ALDH6A1 |
MIMi | 603178, gene 614105, phenotype |
neXtProti | NX_Q02252 |
OpenTargetsi | ENSG00000119711 |
Orphaneti | 289307, Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency |
PharmGKBi | PA24703 |
VEuPathDBi | HostDB:ENSG00000119711.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2449, Eukaryota |
GeneTreei | ENSGT00940000156110 |
InParanoidi | Q02252 |
OMAi | LWRETDV |
PhylomeDBi | Q02252 |
TreeFami | TF105651 |
Enzyme and pathway databases
BRENDAi | 1.2.1.18, 2681 1.2.1.27, 2681 |
PathwayCommonsi | Q02252 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
Miscellaneous databases
BioGRID-ORCSi | 4329, 2 hits in 879 CRISPR screens |
ChiTaRSi | ALDH6A1, human |
GeneWikii | Aldehyde_dehydrogenase_6_family,_member_A1 |
GenomeRNAii | 4329 |
Pharosi | Q02252, Tbio |
PROi | PR:Q02252 |
RNActi | Q02252, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000119711, Expressed in cortex of kidney and 256 other tissues |
ExpressionAtlasi | Q02252, baseline and differential |
Genevisiblei | Q02252, HS |
Family and domain databases
CDDi | cd07085, ALDH_F6_MMSDH, 1 hit |
Gene3Di | 3.40.309.10, 1 hit 3.40.605.10, 1 hit |
InterProi | View protein in InterPro IPR016161, Ald_DH/histidinol_DH IPR016163, Ald_DH_C IPR016160, Ald_DH_CS_CYS IPR016162, Ald_DH_N IPR015590, Aldehyde_DH_dom IPR010061, MeMal-semiAld_DH |
PANTHERi | PTHR43866, PTHR43866, 1 hit |
Pfami | View protein in Pfam PF00171, Aldedh, 1 hit |
SUPFAMi | SSF53720, SSF53720, 1 hit |
TIGRFAMsi | TIGR01722, MMSDH, 1 hit |
PROSITEi | View protein in PROSITE PS00070, ALDEHYDE_DEHYDR_CYS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MMSA_HUMAN | |
Accessioni | Q02252Primary (citable) accession number: Q02252 Secondary accession number(s): B2R609 Q9UKM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | January 24, 2001 | |
Last modified: | February 10, 2021 | |
This is version 202 of the entry and version 2 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 chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families