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Aasdh aminoadipate-semialdehyde dehydrogenase [ Mus musculus (house mouse) ]

Gene ID: 231326, updated on 17-Sep-2019

Summary

Official Symbol
Aasdhprovided by MGI
Official Full Name
aminoadipate-semialdehyde dehydrogenaseprovided by MGI
Primary source
MGI:MGI:2442517
See related
Ensembl:ENSMUSG00000055923
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
U26; Acsf4; A830035E16; A230062G08Rik
Summary
The gene product is a cytosolic enzyme involved in the production of alpha-aminoadipic acid from alpha-aminoadipic semialdehyde. It is postulated that this enzyme plays a role in lysine metabolism. There is currently debate regarding this enzyme's putative requirement of pyrroloquinoline quinine as an essential cofactor. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in bladder adult (RPKM 4.3), CNS E14 (RPKM 3.1) and 28 other tissues See more
Orthologs

Genomic context

See Aasdh in Genome Data Viewer
Location:
5; 5 C3.3
Exon count:
21
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (76873659..76905529, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 5 NC_000071.5 (77304960..77334539, complement)

Chromosome 5 - NC_000071.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C530008M17 gene Neighboring gene predicted gene, 34369 Neighboring gene uncharacterized LOC115490193 Neighboring gene uncharacterized LOC115486295 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene predicted gene, 42102 Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Endonuclease-mediated (1) 

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
ligase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
amino acid activation for nonribosomal peptide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
beta-alanine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
beta-alanine-activating enzyme
Names
2-aminoadipic 6-semialdehyde dehydrogenase
acyl-CoA synthetase family member 4
protein LYS2 homolog
putative aminoadipate-semialdehyde dehydrogenase
NP_776126.1
XP_006534916.1
XP_006534917.1
XP_006534919.1
XP_006534920.1
XP_006534922.1
XP_006534923.1
XP_011247723.1
XP_011247724.1
XP_011247725.1
XP_017176330.1
XP_030110250.1
XP_030110251.1
XP_030110252.1
XP_030110254.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_173765.3NP_776126.1  beta-alanine-activating enzyme

    See identical proteins and their annotated locations for NP_776126.1

    Status: REVIEWED

    Source sequence(s)
    AC114666, AC166328, BB077169, BY741513
    Consensus CDS
    CCDS19366.1
    UniProtKB/Swiss-Prot
    Q80WC9
    Related
    ENSMUSP00000113792.1, ENSMUST00000120963.7
    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:7921012
    PQQ_2; PQQ-like domain
    cl11493
    Location:8441090
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000071.6 Reference GRCm38.p6 C57BL/6J

    Range
    76873659..76905529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006534854.3XP_006534917.1  beta-alanine-activating enzyme isoform X2

    Conserved Domains (6) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:7921013
    PQQ_2; PQQ-like domain
    sd00039
    Location:815849
    7WD40; WD40 repeat [structural motif]
    cl11493
    Location:7841046
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  2. XM_017320841.2XP_017176330.1  beta-alanine-activating enzyme isoform X3

  3. XM_011249423.3XP_011247725.1  beta-alanine-activating enzyme isoform X4

    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    sd00039
    Location:816850
    7WD40; WD40 repeat [structural motif]
    cl11493
    Location:784904
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  4. XM_006534856.4XP_006534919.1  beta-alanine-activating enzyme isoform X5

    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    sd00039
    Location:816850
    7WD40; WD40 repeat [structural motif]
    cl11493
    Location:784904
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  5. XM_006534857.4XP_006534920.1  beta-alanine-activating enzyme isoform X6

    Conserved Domains (4) summary
    pfam00550
    Location:395466
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:630850
    PQQ_2; PQQ-like domain
    cl11493
    Location:682928
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:55370
    AFD_class_I; Adenylate forming domain, Class I superfamily
  6. XM_006534859.4XP_006534922.1  beta-alanine-activating enzyme isoform X8

    Conserved Domains (4) summary
    COG1520
    Location:592800
    PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
    pfam00550
    Location:395466
    PP-binding; Phosphopantetheine attachment site
    cl11493
    Location:622742
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:55370
    AFD_class_I; Adenylate forming domain, Class I superfamily
  7. XM_030254392.1XP_030110252.1  beta-alanine-activating enzyme isoform X7

  8. XM_006534853.3XP_006534916.1  beta-alanine-activating enzyme isoform X1

    See identical proteins and their annotated locations for XP_006534916.1

    UniProtKB/Swiss-Prot
    Q80WC9
    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:7921012
    PQQ_2; PQQ-like domain
    cl11493
    Location:8441090
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  9. XM_011249422.2XP_011247724.1  beta-alanine-activating enzyme isoform X1

    See identical proteins and their annotated locations for XP_011247724.1

    UniProtKB/Swiss-Prot
    Q80WC9
    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:7921012
    PQQ_2; PQQ-like domain
    cl11493
    Location:8441090
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  10. XM_030254390.1XP_030110250.1  beta-alanine-activating enzyme isoform X2

  11. XM_030254391.1XP_030110251.1  beta-alanine-activating enzyme isoform X6

  12. XM_011249421.2XP_011247723.1  beta-alanine-activating enzyme isoform X1

    See identical proteins and their annotated locations for XP_011247723.1

    UniProtKB/Swiss-Prot
    Q80WC9
    Conserved Domains (5) summary
    TIGR01733
    Location:34473
    AA-adenyl-dom; amino acid adenylation domain
    pfam00550
    Location:557628
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:7921012
    PQQ_2; PQQ-like domain
    cl11493
    Location:8441090
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:16532
    AFD_class_I; Adenylate forming domain, Class I superfamily
  13. XM_030254394.1XP_030110254.1  beta-alanine-activating enzyme isoform X10

  14. XM_006534860.3XP_006534923.1  beta-alanine-activating enzyme isoform X9

    Conserved Domains (6) summary
    COG0365
    Location:13176
    Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
    pfam00550
    Location:195266
    PP-binding; Phosphopantetheine attachment site
    pfam13360
    Location:430650
    PQQ_2; PQQ-like domain
    sd00039
    Location:453487
    7WD40; WD40 repeat [structural motif]
    cl11493
    Location:482728
    PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
    cl17068
    Location:9170
    AFD_class_I; Adenylate forming domain, Class I superfamily

RNA

  1. XR_880391.3 RNA Sequence

  2. XR_880390.3 RNA Sequence

  3. XR_003955628.1 RNA Sequence

  4. XR_003955629.1 RNA Sequence

  5. XR_003955630.1 RNA Sequence

  6. XR_389268.4 RNA Sequence

  7. XR_001784673.2 RNA Sequence

    Related
    ENSMUST00000126741.7
  8. XR_389267.3 RNA Sequence

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