AASDHPPT aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: AASDHPPTprovided by HGNC
Official Full Name: aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferaseprovided by HGNC
Primary source: HGNC:HGNC:14235
See related: Ensembl:ENSG00000149313 MIM:607756; AllianceGenome:HGNC:14235
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: ACPS; LYS2; LYS5; CGI-80; AASD-PPT
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]
Expression: Ubiquitous expression in brain (RPKM 32.8), testis (RPKM 17.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (106077662..106098695)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (106082274..106103304)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (105948389..105969422)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our study identifies human PPT as the FDH-modifying enzyme and supports the hypothesis that mammals utilize a single enzyme for all phosphopantetheinylation reactions.
Title: Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.
humans appear to utilize a single, broad specificity enzyme, 4'-phosphopantetheine transferase, for all posttranslational 4'-phosphopantetheinylation reactions
Title: Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity.

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

WI-15672 (e-PCR)
- UniSTS:62236

D11S2325E (e-PCR)
- UniSTS:40235

D11S4277 (e-PCR)
- UniSTS:63046

RH122942 (e-PCR)
- UniSTS:135239

RH11761 (e-PCR)
- UniSTS:77663

NIB321 (e-PCR)
- UniSTS:45164

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables holo-[acyl-carrier-protein] synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables holo-[acyl-carrier-protein] synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables holo-[acyl-carrier-protein] synthase activity	TAS Traceable Author Statement more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_positive_effect 10-formyltetrahydrofolate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysine biosynthetic process via aminoadipic acid	IBA Inferred from Biological aspect of Ancestor more info
involved_in pantothenate metabolic process	TAS Traceable Author Statement more info
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

Names: 4'-phosphopantetheinyl transferase; LYS5 ortholog; alpha-aminoadipic semialdehyde dehydrogenase-phosphopantetheinyl transferase; holo ACP synthase; holo-[acyl-carrier-protein] synthase

NP_056238.2

EC 2.7.8.7

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.

mRNA and Protein(s)

NM_015423.3 → NP_056238.2 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase

See identical proteins and their annotated locations for NP_056238.2

Status: REVIEWED

Source sequence(s)

AP001001

Consensus CDS

CCDS31664.1

UniProtKB/Swiss-Prot

B2R6D1, B4DDW7, Q9C068, Q9NRN7, Q9P0Q3, Q9UG80, Q9Y389

Related

ENSP00000278618.4, ENST00000278618.9

Conserved Domains (1) summary

COG2091
Location:42 → 208

Sfp; Phosphopantetheinyl transferase [Coenzyme transport and metabolism]