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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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Related articles in PubMed

  1. Cloning and characterization of a novel human homolog* of mouse U26, a putative PQQ-dependent AAS dehydrogenase. Wang L, et al. Mol Biol Rep, 2005 Mar. PMID 15865210
  2. Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase. Drozak J, et al. FEBS J, 2014 Mar. PMID 24467666
  3. SMART amplification combined with cDNA size fractionation in order to obtain large full-length clones. Wellenreuther R, et al. BMC Genomics, 2004 Jun 15. PMID 15198809, Free PMC Article
  4. Nutritional biochemistry: A new redox-cofactor vitamin for mammals. Kasahara T, et al. Nature, 2003 Apr 24. PMID 12712191
  5. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, et al. J Lipid Res, 2007 Dec. PMID 17762044

See all (16) citations in PubMed

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)

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

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