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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)

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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_001286668.2NP_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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