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

    Gene ID: 231326, updated on 27-Nov-2024

    Summary

    Official Symbol
    Aasdhprovided by MGI
    Official Full Name
    aminoadipate-semialdehyde dehydrogenaseprovided by MGI
    Primary source
    MGI:MGI:2442517
    See related
    Ensembl:ENSMUSG00000055923 AllianceGenome:MGI:2442517
    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
    NEW
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    Genomic context

    See Aasdh in Genome Data Viewer
    Location:
    5 C3.3; 5 41.45 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (77021506..77053376, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (76873659..76905529, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene capping protein inhibiting regulator of actin Neighboring gene predicted gene, 34369 Neighboring gene STARR-seq mESC enhancer starr_13449 Neighboring gene STARR-seq mESC enhancer starr_13451 Neighboring gene predicted gene, 52818 Neighboring gene STARR-seq mESC enhancer starr_13452 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoribosylaminoimidazole, succinocarboxamide synthetase Neighboring gene predicted gene, 54291

    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)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables acid-thiol ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    is_active_in 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_001363933.1
    NP_776126.1
    XP_006534916.1
    XP_006534917.1
    XP_006534919.1
    XP_006534920.1
    XP_006534922.1
    XP_006534923.1
    XP_011247724.1
    XP_011247725.1
    XP_017176330.1
    XP_030110250.1
    XP_030110251.1
    XP_030110252.1
    XP_036020953.1
    XP_036020954.1
    XP_036020955.1
    XP_036020956.1
    XP_036020957.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001377004.1NP_001363933.1  beta-alanine-activating enzyme

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC114666, AC166328
      UniProtKB/Swiss-Prot
      Q3V3L2, Q505K4, Q80WC9, Q8BRP4
      Conserved Domains (4) summary
      COG1520
      Location:754986
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:9231094
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    2. NM_173765.4NP_776126.1  beta-alanine-activating enzyme

      See identical proteins and their annotated locations for NP_776126.1

      Status: REVIEWED

      Description
      Transcript Variant: Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC114666, AC166328
      Consensus CDS
      CCDS19366.1
      UniProtKB/Swiss-Prot
      Q3V3L2, Q505K4, Q80WC9, Q8BRP4
      Related
      ENSMUSP00000113792.2, ENSMUST00000120963.8
      Conserved Domains (4) summary
      COG1520
      Location:754986
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:9231094
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      77021506..77053376 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 (4) summary
      COG1520
      Location:7541051
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      sd00039
      Location:815849
      7WD40; WD40 repeat [structural motif]
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    2. XM_011249423.3XP_011247725.1  beta-alanine-activating enzyme isoform X4

      Conserved Domains (4) summary
      TIGR03300
      Location:730881
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      sd00039
      Location:816850
      7WD40; WD40 repeat [structural motif]
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    3. XM_006534856.4XP_006534919.1  beta-alanine-activating enzyme isoform X5

      Conserved Domains (4) summary
      TIGR03300
      Location:730881
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      sd00039
      Location:816850
      7WD40; WD40 repeat [structural motif]
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    4. XM_006534857.4XP_006534920.1  beta-alanine-activating enzyme isoform X6

      Conserved Domains (4) summary
      COG1520
      Location:592824
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:761932
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:26370
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:399448
      PP-binding; Phosphopantetheine attachment site
    5. XM_036165061.1XP_036020954.1  beta-alanine-activating enzyme isoform X8

      Conserved Domains (4) summary
      COG1520
      Location:569866
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      sd00039
      Location:630664
      7WD40; WD40 repeat [structural motif]
      cd17654
      Location:34347
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:376425
      PP-binding; Phosphopantetheine attachment site
    6. XM_030254392.1XP_030110252.1  beta-alanine-activating enzyme isoform X7

      Conserved Domains (4) summary
      COG1520
      Location:569801
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:738909
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:34347
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:376443
      PP-binding; Phosphopantetheine attachment site
    7. 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
      Q3V3L2, Q505K4, Q80WC9, Q8BRP4
      Related
      ENSMUSP00000069279.9, ENSMUST00000069709.15
      Conserved Domains (4) summary
      COG1520
      Location:754986
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:9231094
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    8. 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
      Q3V3L2, Q505K4, Q80WC9, Q8BRP4
      Conserved Domains (4) summary
      COG1520
      Location:754986
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:9231094
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    9. XM_036165060.1XP_036020953.1  beta-alanine-activating enzyme isoform X6

      Conserved Domains (4) summary
      COG1520
      Location:592824
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:761932
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:26370
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:399448
      PP-binding; Phosphopantetheine attachment site
    10. XM_030254390.1XP_030110250.1  beta-alanine-activating enzyme isoform X2

      Conserved Domains (4) summary
      COG1520
      Location:7541051
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      sd00039
      Location:815849
      7WD40; WD40 repeat [structural motif]
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    11. XM_036165063.1XP_036020956.1  beta-alanine-activating enzyme isoform X12

      Conserved Domains (3) summary
      COG1520
      Location:242474
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:411582
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      pfam00550
      Location:4998
      PP-binding; Phosphopantetheine attachment site
    12. XM_030254391.1XP_030110251.1  beta-alanine-activating enzyme isoform X6

      Conserved Domains (4) summary
      COG1520
      Location:592824
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:761932
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      cd17654
      Location:26370
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:399448
      PP-binding; Phosphopantetheine attachment site
    13. XM_036165064.1XP_036020957.1  beta-alanine-activating enzyme isoform X12

      Conserved Domains (3) summary
      COG1520
      Location:242474
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:411582
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      pfam00550
      Location:4998
      PP-binding; Phosphopantetheine attachment site
    14. XM_006534860.4XP_006534923.1  beta-alanine-activating enzyme isoform X10

      Conserved Domains (4) summary
      COG1520
      Location:392624
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      TIGR03300
      Location:561732
      assembly_YfgL; outer membrane assembly lipoprotein YfgL
      pfam00550
      Location:199266
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:4170
      AFD_class_I; Adenylate forming domain, Class I superfamily
    15. XM_036165062.1XP_036020955.1  beta-alanine-activating enzyme isoform X11

      Conserved Domains (4) summary
      COG1520
      Location:392689
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      sd00039
      Location:453487
      7WD40; WD40 repeat [structural motif]
      pfam00550
      Location:199248
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:4170
      AFD_class_I; Adenylate forming domain, Class I superfamily
    16. XM_017320841.3XP_017176330.1  beta-alanine-activating enzyme isoform X3

      Conserved Domains (3) summary
      COG1520
      Location:754962
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      cd17654
      Location:15532
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:561628
      PP-binding; Phosphopantetheine attachment site
    17. XM_006534859.5XP_006534922.1  beta-alanine-activating enzyme isoform X9

      Conserved Domains (3) summary
      COG1520
      Location:592800
      PQQ; Outer membrane protein assembly factor BamB, contains PQQ-like beta-propeller repeat [Cell wall/membrane/envelope biogenesis]
      cd17654
      Location:26370
      A_NRPS_acs4; acyl-CoA synthetase family member 4
      pfam00550
      Location:399466
      PP-binding; Phosphopantetheine attachment site

    RNA

    1. XR_880391.3 RNA Sequence

    2. XR_880390.3 RNA Sequence

    3. XR_389268.4 RNA Sequence

    4. XR_004942502.1 RNA Sequence

    5. XR_004942498.1 RNA Sequence

      Related
      ENSMUST00000126741.8
    6. XR_004942501.1 RNA Sequence

    7. XR_004942499.1 RNA Sequence

    8. XR_001784673.2 RNA Sequence

    9. XR_004942500.1 RNA Sequence

    10. XR_389267.3 RNA Sequence