AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Gene

Also Known as ACPS; LYS2; LYS5; CGI-80; AASD-PPT

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 60496

About AASDHPPT

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:106,077,662-106,098,695 (from NCBI)

This gene has 5 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues.

Summary

The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]

AASDHPPT Products (1)

mRNA Protein Name
NM_015423.3 NP_056238.2 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables holo-[acyl-carrier-protein] synthase activity IDA
IDA: Inferred from direct assay
12815048 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
18022563 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence 参考文献 由来
acts upstream of positive effect 10-formyltetrahydrofolate catabolic process IMP
IMP: Inferred from mutant phenotype
19933275 GOA
involved in protein maturation IDA
IDA: Inferred from direct assay
19933275 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytosol IDA
IDA: Inferred from direct assay
12815048 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AASDHPPT Protein Structure

ACPS

ACPS: 4'-phosphopantetheinyl transferase superfamily (125 - 244)

  • 0
  • 100
  • 200
  • 309 a.a.
Protein Preferred Names Protein Names

L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

  • 4'-phosphopantetheinyl transferase

AASDHPPT Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Y2H Array
32296183
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Y2H Prey Pooling
32296183
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Anti Tag CoIP
28514442
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9-2
Validated Y2H
32296183
Intra
AASDHPPT Q9NRN7 EFHC2 Homo sapiens Q5JST6
Y2H Array
32296183
Intra
AASDHPPT Q9NRN7 EFHC2 Homo sapiens Q5JST6
Y2H Prey Pooling
32296183
Intra
AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Intra
AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Array
32296183
Intra
AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
25416956
Intra
AASDHPPT Q9NRN7 TRAF2 Homo sapiens Q12933
Y2H Prey Pooling
32296183
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9
Anti Tag CoIP
33961781
Intra
AASDHPPT Q9NRN7 USP22 Homo sapiens Q9UPT9
Y2H Prey Pooling
25416956
Intra
AASDHPPT Q9NRN7 SIAH1 Homo sapiens Q8IUQ4
Y2H Array
25416956
Intra
AASDHPPT Q9NRN7 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra
AASDHPPT Q9NRN7 CRX Homo sapiens O43186
Y2H Prey Pooling
32296183
Intra
AASDHPPT Q9NRN7 CRX Homo sapiens O43186
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Pipecolic Acidemia
Lissencephaly 5

  • LIS5

  • Cobblestone Lissencephaly Without Muscular Or Ocular Involvement

  • Cobblestone Lissencephaly Without Muscular Or Eye Involvement

  • Lissencephaly Type 2 Without Muscular Or Eye Involvement

  • Lissencephaly Type 2 Without Muscular Or Ocular Involvement

  • Lissencephaly, Type 5
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS00032 AASDHPPT Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Mus musculus AASDHPPT MGD MGI:1914868
Canis familiaris AASDHPPT VGNC VGNC:37418
Felis catus AASDHPPT VGNC VGNC:59457
Rattus norvegicus AASDHPPT RGD RGD:1311360
Macaca mulatta AASDHPPT VGNC VGNC:69394
Others AASDHPPT NCBI