AASDH (aminoadipate-semialdehyde dehydrogenase)

Gene

• Entrez ID: 132949
• Gene name: Aminoadipate-semialdehyde dehydrogenase
• Gene symbol: AASDH
• Synonyms (NCBI Gene): ACSF4, LYS2, NRPS1098, NRPS998
• Chromosome: 4
• Chromosome location: 4q12
• 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) bi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047487	hsa-miR-10b-5p	CLASH	23622248
MIRT526608	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT526607	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT526606	hsa-miR-3064-3p	PAR-CLIP	20371350
MIRT526605	hsa-miR-4715-3p	PAR-CLIP	20371350
MIRT526608	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT526607	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT526606	hsa-miR-3064-3p	PAR-CLIP	22012620
MIRT526605	hsa-miR-4715-3p	PAR-CLIP	22012620
MIRT526608	hsa-miR-605-5p	PAR-CLIP	20371350
MIRT526607	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT526606	hsa-miR-3064-3p	PAR-CLIP	20371350
MIRT526605	hsa-miR-4715-3p	PAR-CLIP	20371350
MIRT526608	hsa-miR-605-5p	PAR-CLIP	22012620
MIRT526607	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT526606	hsa-miR-3064-3p	PAR-CLIP	22012620
MIRT526605	hsa-miR-4715-3p	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	ISS
GO:0016874	Function	Ligase activity	IEA
GO:0019482	Process	Beta-alanine metabolic process	IEA
GO:0043041	Process	Amino acid activation for nonribosomal peptide biosynthetic process	IEA

Other IDs

• MIM: 614365
• HGNC: 23993
• e!Ensembl: ENSG00000157426

Protein

• UniProt ID: Q4L235
• Protein name: Beta-alanine-activating enzyme (EC 6.2.1.-) (Acyl-CoA synthetase family member 4) (Protein NRPS998)
• Protein function: Covalently binds beta-alanine in an ATP-dependent manner to form a thioester bond with its phosphopantetheine group and transfers it to an, as yet, unknown acceptor. May be required for a post-translational protein modification or for post-trans
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00501	AMP-binding	7 → 450	AMP-binding enzyme	Family
  PF00550	PP-binding	557 → 626	Phosphopantetheine attachment site	Domain
  PF13360	PQQ_2	815 → 945	PQQ-like domain	Domain
  PF13570	PQQ_3	967 → 1007	PQQ-like domain	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed in adult tissues. {ECO:0000269|PubMed:15865210}.
• Sequence:

  MTLQELVHKAASCYMDRVAVCFDECNNQLPVYYTYKTVVNAASELSNFLLLHCDFQGIRE
  IGLYCQPGIDLPSWILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEKKQINKFK
  SFHETLLNYDTFTVEHNDLVLFRLHWKNTEVNLMLNDGKEKYEKEKIKSISSEHVNEEKA
  EEHMDLRLKHCLAYVLHTSGTTGIPKIVRVPHKCIVPNIQHFRVLFDITQEDVLFLASPL
  TFDPSVVEIFLALSSGASLLIVPTSVKLLPSKLASVLFSHHRVTVLQATPTLLRRFGSQL
  IKSTVLSATTSLRVLALGGEAFPSLTVLRSWRGEGNKTQIFNVYGITEVSSWATIYRIPE
  KTLNSTLKCELPVQLGFPLLGTVVEVRDTNGFTIQEGSGQVFLGGRNRVCFLDDEVTVPL
  GTMRATGDFVTVKDGEIFFLGRKDSQIKRHGKRLNIELVQQVAEELQQVESCAVTWYNQE
  KLILFMVSKDASVKEYIFKELQKYLPSHAVPDELVLIDSLPFTSHGKIDVSELNKIYLNY
  INLKSENKLSGKEDLWEKLQYLWKSTLNLPEDLLRVPDESLFLNSGGDSLKSIRLLSEIE
  KLVGTSVPGLLEIILSSSILEIYNHILQTVVPDEDVTFRKSCATKRKLSDINQEEASGTS
  LHQKAIMTFTCHNEINAFVVLSRGSQILSLNSTRFLTKLGHCSSACPSDSVSQTNIQNLK
  GLNSPVLIGKSKDPSCVAKVSEEGKPAIGTQKMELHVRWRSDTGKCVDASPLVVIPTFDK
  SSTTVYIGSHSHRMKAVDFYSGKVKWEQILGDRIESSACVSKCGNFIVVGCYNGLVYVLK
  SNSGEKYWMFTTEDAVKSSATMDPTTGLIYIGSHDQHAYALDIYRKKCVWKSKCGGTVFS
  SPCLNLIPHHLYFATLGGLLLAVNPATGNVIWKHSCGKPLFSSPQCCSQYICIGCVDGNL
  LCFTHFGEQVWQFSTSGPIFSSPCTSPSEQKIFFGSHDCFIYCCNMKGHLQWKFETTSRV
  YATPFAFHNYNGSNEMLLAAASTDGKVWILESQSGQLQSVYELPGEVFSSPVVLESMLII
  GCRDNYVYCLDLLGGNQK

• Sequence length: 1098

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	15865210		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28611049		★☆☆☆☆ Found in Text Mining only