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

    Gene ID: 132949, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AASDHprovided by HGNC
    Official Full Name
    aminoadipate-semialdehyde dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:23993
    See related
    Ensembl:ENSG00000157426 MIM:614365; AllianceGenome:HGNC:23993
    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
    mouse all
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    Genomic context

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    See AASDH in Genome Data Viewer
    Location:
    4q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56338290..56387491, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (59826269..59875493, complement)
    RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57253075-57253582 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57253583-57254089 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:57291569-57292254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15450 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57302513-57303396 Neighboring gene phosphoribosyl pyrophosphate amidotransferase Neighboring gene phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:57325164-57326363 Neighboring gene uncharacterized LOC124900706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21580

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ACSF4 (U26) is a beta-alanine activating enzyme homologous to bacterial nonribosomal peptide synthetase. Experiments using the mouse protein suggest this enzyme may be involved in a rare intracellular reaction, possibly an infrequent post-translational or post-transcriptional modification.
      Title: Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase.
    2. Human 2-aminoadipic 6-semialdehyde dehydrogenase gene was cloned; its mRNA is ubiquitously expressed in adult tissues and is highly expressed in colon adenocarcinoma (CX-1) and colon adenocarcinoma (GI-112) cell lines.
      Title: Cloning and characterization of a novel human homolog* of mouse U26, a putative PQQ-dependent AAS dehydrogenase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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    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_016863232.1
    XP_047305570.1
    XP_047305571.1
    XP_054204914.1
    XP_054204915.1
    XP_054204916.1
    XP_054204917.1

    NCBI Reference Sequences (RefSeq)

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    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_001286668.2 → NP_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/TrEMBL
      B4E2K0
      Related
      ENSP00000423760.1, ENST00000513376.5
      Conserved Domains (5) summary
      pfam00550
      Location:457 → 526
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:696 → 956
      PQQ_2; PQQ-like domain
      sd00039
      Location:654 → 688
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:767 → 991
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:92 → 433
      AFD_class_I; Adenylate forming domain, Class I superfamily

    2. NM_001286669.2 → NP_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/TrEMBL
      B4E2K0, R4GNB1
      Related
      ENSP00000473564.2, ENST00000602986.5
      Conserved Domains (5) summary
      pfam00550
      Location:404 → 473
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:643 → 903
      PQQ_2; PQQ-like domain
      sd00039
      Location:601 → 635
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:714 → 938
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:39 → 380
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_001286670.2 → NP_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/TrEMBL
      B4DFZ3
      Conserved Domains (5) summary
      pfam00550
      Location:72 → 141
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:311 → 571
      PQQ_2; PQQ-like domain
      sd00039
      Location:269 → 303
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:382 → 606
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:3 → 48
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. NM_001286671.2 → NP_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/TrEMBL
      B4E195
      Related
      ENSP00000409656.1, ENST00000451613.5
      Conserved Domains (3) summary
      TIGR01733
      Location:68 → 474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557 → 626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16 → 533
      AFD_class_I; Adenylate forming domain, Class I superfamily

    5. NM_001286672.2 → NP_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/TrEMBL
      B4E195
      Related
      ENSP00000421171.1, ENST00000502617.1
      Conserved Domains (3) summary
      TIGR01733
      Location:68 → 474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557 → 626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16 → 533
      AFD_class_I; Adenylate forming domain, Class I superfamily

    6. NM_001323890.2 → NP_001310819.1  beta-alanine-activating enzyme isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/TrEMBL
      B4E2K0

    7. NM_001323892.2 → NP_001310821.1  beta-alanine-activating enzyme isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/TrEMBL
      B4E195
      Conserved Domains (3) summary
      TIGR01733
      Location:68 → 474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557 → 626
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:16 → 533
      AFD_class_I; Adenylate forming domain, Class I superfamily

    8. NM_001323893.2 → NP_001310822.1  beta-alanine-activating enzyme isoform 9

      Status: REVIEWED

      Source sequence(s)
      AK303733, AK304309, AK316296, AY314787, BC142709, DC306784
      UniProtKB/TrEMBL
      B4E195
      Conserved Domains (2) summary
      pfam00550
      Location:404 → 473
      PP-binding; Phosphopantetheine attachment site
      cl17068
      Location:39 → 380
      AFD_class_I; Adenylate forming domain, Class I superfamily

    9. NM_001323899.2 → NP_001310828.1  beta-alanine-activating enzyme isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC068620, BC142709
      UniProtKB/TrEMBL
      B4DFZ3

    10. NM_181806.4 → NP_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
      A5D8V3, A5PL22, Q4L235, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064
      UniProtKB/TrEMBL
      B4E2K0
      Related
      ENSP00000205214.6, ENST00000205214.11
      Conserved Domains (6) summary
      TIGR01733
      Location:68 → 474
      AA-adenyl-dom; amino acid adenylation domain
      pfam00550
      Location:557 → 626
      PP-binding; Phosphopantetheine attachment site
      pfam13360
      Location:796 → 1056
      PQQ_2; PQQ-like domain
      sd00039
      Location:754 → 788
      7WD40; WD40 repeat [structural motif]
      cl11493
      Location:867 → 1091
      PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins
      cl17068
      Location:16 → 533
      AFD_class_I; Adenylate forming domain, Class I superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      56338290..56387491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007743.3 → XP_016863232.1  beta-alanine-activating enzyme isoform X3

      UniProtKB/TrEMBL
      B4E195

    2. XM_017007740.3 → XP_016863229.1  beta-alanine-activating enzyme isoform X2

      UniProtKB/TrEMBL
      B4E2K0

    3. XM_047449614.1 → XP_047305570.1  beta-alanine-activating enzyme isoform X1

    4. XM_047449615.1 → XP_047305571.1  beta-alanine-activating enzyme isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      59826269..59875493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348941.1 → XP_054204916.1  beta-alanine-activating enzyme isoform X3

    2. XM_054348940.1 → XP_054204915.1  beta-alanine-activating enzyme isoform X2

    3. XM_054348939.1 → XP_054204914.1  beta-alanine-activating enzyme isoform X1

    4. XM_054348942.1 → XP_054204917.1  beta-alanine-activating enzyme isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4L235.3 GenPept UniProtKB/Swiss-Prot:Q4L235

    Gene LinkOut

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