• Gene id: 132949

Gene Summary

• Gene Symbol: AASDH   Gene   UCSC   Ensembl
• Aliases: ACSF4, LYS2, NRPS1098, NRPS998
• Gene name: aminoadipate-semialdehyde dehydrogenase
• Alternate names: beta-alanine-activating enzyme, 2-aminoadipic 6-semialdehyde dehydrogenase, acyl-CoA synthetase family member 4, non-ribosomal peptide synthetase 1098, non-ribosomal peptide synthetase 998,
• Gene location: 4q12 (56389417: 56337686)     Exons: 17     NC_000004.12
• Gene summary(Entrez): 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) bi
• OMIM: 614365

Protein Summary

• Protein general information: Q4L235  
  • Name: Beta alanine activating enzyme (EC 6.2.1. ) (Acyl CoA synthetase family member 4) (Protein NRPS998)
  • Length: 1098  
  • Mass: 122597
  • Tissue specificity: Ubiquitously expressed in adult tissues. {ECO
• Sequence:

  MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIREIGLYCQPGIDLPSWI
  LGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFKSFHETLLNYDTFTVEHNDLVLFRLHWKNTE
  VNLMLNDGKEKYEKEKIKSISSEHVNEEKAEEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVL
  FDITQEDVLFLASPLTFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQL
  IKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPEKTLNSTLKCELPVQL
  GFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPLGTMRATGDFVTVKDGEIFFLGRKDSQIKRH
  GKRLNIELVQQVAEELQQVESCAVTWYNQEKLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSH
  GKIDVSELNKIYLNYINLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIE
  KLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTSLHQKAIMTFTCHNEI
  NAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLKGLNSPVLIGKSKDPSCVAKVSEEGKPAIGT
  QKMELHVRWRSDTGKCVDASPLVVIPTFDKSSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGN
  FIVVGCYNGLVYVLKSNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFS
  SPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNLLCFTHFGEQVWQFST
  SGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRVYATPFAFHNYNGSNEMLLAAASTDGKVWIL
  ESQSGQLQSVYELPGEVFSSPVVLESMLIIGCRDNYVYCLDLLGGNQK

• Structural information:
  • Protein Domains: (553..63-)
    (/note="Carrier-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00258"-)
  • Interpro: IPR036736  IPR020845  IPR000873  IPR042099  IPR009081   IPR025666  IPR018391  IPR002372  IPR011047  IPR015943  
  • Prosite: PS00455 PS50075
  • STRING: ENSP00000205214
• Other Databases: GeneCards:  AASDH  Malacards:  AASDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0043041	amino acid activation for nonribosomal peptide biosynthetic process	IEA	biological process
GO:0019482	beta-alanine metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	ISS	biological process
GO:0016878	acid-thiol ligase activity	ISS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881