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    AASDH aminoadipate-semialdehyde dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 132949, updated on 23-Nov-2021

    Summary

    Official Symbol
    AASDHprovided by HGNC
    Official Full Name
    aminoadipate-semialdehyde dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:23993
    See related
    Ensembl:ENSG00000157426 MIM:614365
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LYS2; ACSF4; NRPS998; NRPS1098
    Summary
    This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.4), ovary (RPKM 3.2) and 25 other tissues See more
    Orthologs
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    Genomic context

    See AASDH in Genome Data Viewer
    Location:
    4q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (56337687..56389418, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57204456..57253657, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene capping protein inhibiting regulator of actin dynamics Neighboring gene mitochondrial ribosomal protein L22 pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 162 Neighboring gene ribosomal protein L7a pseudogene 31 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Neighboring gene signal recognition particle 72

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
     
    Process Evidence Code Pubs
    involved_in amino acid activation for nonribosomal peptide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in beta-alanine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    beta-alanine-activating enzyme
    Names
    2-aminoadipic 6-semialdehyde dehydrogenase
    acyl-CoA synthetase family member 4
    non-ribosomal peptide synthetase 1098
    non-ribosomal peptide synthetase 998
    NP_001273597.1
    NP_001273598.1
    NP_001273599.1
    NP_001273600.1
    NP_001273601.1
    NP_001310819.1
    NP_001310821.1
    NP_001310822.1
    NP_001310828.1
    NP_861522.2
    XP_016863229.1
    XP_016863230.1
    XP_016863231.1
    XP_016863232.1
    XP_016863233.1

    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.

    Genomic

    1. NG_046885.1 RefSeqGene

      Range
      6911..56135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286668.2NP_001273597.1  beta-alanine-activating enzyme isoform 2

      See identical proteins and their annotated locations for NP_001273597.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' end and uses a downstream start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA743758, AF516672, AK304309, AY314787, DC306784
      Consensus CDS
      CCDS68705.1
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4E2K0
      Related
      ENSP00000423760.1, ENST00000513376.5
      Conserved Domains (5) summary
      pfam00550
      Location:457526
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:696956
      PQQ_2; PQQ-like domain
      sd00039
      Location:654688
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:767991
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:92433
      AFD_class_I; Adenylate forming domain, Class I superfamily
    2. NM_001286669.2NP_001273598.1  beta-alanine-activating enzyme isoform 3

      See identical proteins and their annotated locations for NP_001273598.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' end and uses a downstream start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA743758, AK303733, AK304309, AY314787, DC306784
      Consensus CDS
      CCDS75126.1
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4E195, B4E2K0, R4GNB1
      Related
      ENSP00000473564.2, ENST00000602986.5
      Conserved Domains (5) summary
      pfam00550
      Location:404473
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:643903
      PQQ_2; PQQ-like domain
      sd00039
      Location:601635
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:714938
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:39380
      AFD_class_I; Adenylate forming domain, Class I superfamily
    3. NM_001286670.2NP_001273599.1  beta-alanine-activating enzyme isoform 4

      See identical proteins and their annotated locations for NP_001273599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks several internal exons and uses a downstream start codon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AA743758, AC068620, AK294332, AK304309, AY314787, DC306784
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4DFZ3, B4E2K0
      Conserved Domains (5) summary
      pfam00550
      Location:72141
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:311571
      PQQ_2; PQQ-like domain
      sd00039
      Location:269303
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:382606
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:348
      AFD_class_I; Adenylate forming domain, Class I superfamily
    4. NM_001286671.2NP_001273600.1  beta-alanine-activating enzyme isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks several exons in the 3' end compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AA743758, AK304309, AY314787, BC142709, DC306784
      Consensus CDS
      CCDS68706.1
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4E2K0
      Related
      ENSP00000409656.1, ENST00000451613.5
      Conserved Domains (3) summary
      TIGR01733
      Location:68474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16533
      AFD_class_I; Adenylate forming domain, Class I superfamily
    5. NM_001286672.2NP_001273601.1  beta-alanine-activating enzyme isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC068620, BC141824, DC306784
      Consensus CDS
      CCDS75127.1
      UniProtKB/Swiss-Prot
      Q4L235
      Related
      ENSP00000421171.1, ENST00000502617.1
      Conserved Domains (3) summary
      TIGR01733
      Location:68474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16533
      AFD_class_I; Adenylate forming domain, Class I superfamily
    6. NM_001323890.2NP_001310819.1  beta-alanine-activating enzyme isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/Swiss-Prot
      Q4L235
    7. NM_001323892.2NP_001310821.1  beta-alanine-activating enzyme isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/Swiss-Prot
      Q4L235
      Conserved Domains (3) summary
      TIGR01733
      Location:68474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16533
      AFD_class_I; Adenylate forming domain, Class I superfamily
    8. NM_001323893.2NP_001310822.1  beta-alanine-activating enzyme isoform 9

      Status: REVIEWED

      Source sequence(s)
      AK303733, AK304309, AK316296, AY314787, BC142709, DC306784
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4E195, B4E2K0, B7ZAI1
      Conserved Domains (2) summary
      pfam00550
      Location:404473
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:39380
      AFD_class_I; Adenylate forming domain, Class I superfamily
    9. NM_001323899.2NP_001310828.1  beta-alanine-activating enzyme isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/Swiss-Prot
      Q4L235
    10. NM_181806.4NP_861522.2  beta-alanine-activating enzyme isoform 1

      See identical proteins and their annotated locations for NP_861522.2

      Status: REVIEWED

      Source sequence(s)
      AA743758, AK304309, AY314787, DC306784
      Consensus CDS
      CCDS3504.1
      UniProtKB/Swiss-Prot
      Q4L235
      UniProtKB/TrEMBL
      B4E2K0
      Related
      ENSP00000205214.6, ENST00000205214.11
      Conserved Domains (6) summary
      TIGR01733
      Location:68474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557626
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:7961056
      PQQ_2; PQQ-like domain
      sd00039
      Location:754788
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:8671091
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:16533
      AFD_class_I; Adenylate forming domain, Class I superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      56337687..56389418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007743.2XP_016863232.1  beta-alanine-activating enzyme isoform X3

    2. XM_017007740.2XP_016863229.1  beta-alanine-activating enzyme isoform X1

    3. XM_017007744.2XP_016863233.1  beta-alanine-activating enzyme isoform X4

      Conserved Domains (5) summary
      pfam00550
      Location:135204
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:374634
      PQQ_2; PQQ-like domain
      sd00039
      Location:332366
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:445669
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:3111
      AFD_class_I; Adenylate forming domain, Class I superfamily
    4. XM_017007742.2XP_016863231.1  beta-alanine-activating enzyme isoform X2

      UniProtKB/TrEMBL
      R4GNB1
      Conserved Domains (5) summary
      pfam00550
      Location:404473
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:643903
      PQQ_2; PQQ-like domain
      sd00039
      Location:601635
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:714938
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:39380
      AFD_class_I; Adenylate forming domain, Class I superfamily
    5. XM_017007741.2XP_016863230.1  beta-alanine-activating enzyme isoform X2

      UniProtKB/TrEMBL
      R4GNB1
      Conserved Domains (5) summary
      pfam00550
      Location:404473
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:643903
      PQQ_2; PQQ-like domain
      sd00039
      Location:601635
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:714938
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:39380
      AFD_class_I; Adenylate forming domain, Class I superfamily
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