AASDH aminoadipate-semialdehyde dehydrogenase [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:23993
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: mouse all
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Genomic context

Location:: 4q12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (56338290..56387491, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (59826269..59875493, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (57204456..57253657, complement)

Chromosome 4 - NC_000004.12 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?

ACSF4 (U26) is a beta-alanine activating enzyme homologous to bacterial nonribosomal peptide synthetase. Experiments using the mouse protein suggest this enzyme may be involved in a rare intracellular reaction, possibly an infrequent post-translational or post-transcriptional modification.
Title: Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase.
Human 2-aminoadipic 6-semialdehyde dehydrogenase gene was cloned; its mRNA is ubiquitously expressed in adult tissues and is highly expressed in colon adenocarcinoma (CX-1) and colon adenocarcinoma (GI-112) cell lines.
Title: Cloning and characterization of a novel human homolog* of mouse U26, a putative PQQ-dependent AAS dehydrogenase.

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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

AB050266 (e-PCR)
- UniSTS:479863

D4S3000 (e-PCR), detects polymorphism
- UniSTS:11214

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

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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

EC 6.2.1.-

NP_001273598.1

EC 6.2.1.-

NP_001273599.1

EC 6.2.1.-

NP_001273600.1

EC 6.2.1.-

NP_001273601.1

EC 6.2.1.-

NP_001310819.1

EC 6.2.1.-

NP_001310821.1

EC 6.2.1.-

NP_001310822.1

EC 6.2.1.-

NP_001310828.1

EC 6.2.1.-

NP_861522.2

EC 6.2.1.-

XP_016863229.1

EC 6.2.1.-

XP_016863232.1

EC 6.2.1.-

XP_047305570.1

EC 6.2.1.-

XP_047305571.1

EC 6.2.1.-

XP_054204914.1

EC 6.2.1.-

XP_054204915.1

EC 6.2.1.-

XP_054204916.1

EC 6.2.1.-

XP_054204917.1

EC 6.2.1.-

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

NG_046885.1 RefSeqGene

Range

6911..56135

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286668.2 → NP_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/TrEMBL

B4E2K0

Related

ENSP00000423760.1, ENST00000513376.5

Conserved Domains (5) summary

pfam00550
Location:457 → 526

PP-binding; Phosphopantetheine attachment site

pfam13360
Location:696 → 956

PQQ_2; PQQ-like domain

sd00039
Location:654 → 688

7WD40; WD40 repeat [structural motif]

cl11493
Location:767 → 991

PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins

cl17068
Location:92 → 433

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001286669.2 → NP_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/TrEMBL

B4E2K0, R4GNB1

Related

ENSP00000473564.2, ENST00000602986.5

Conserved Domains (5) summary

pfam00550
Location:404 → 473

PP-binding; Phosphopantetheine attachment site

pfam13360
Location:643 → 903

PQQ_2; PQQ-like domain

sd00039
Location:601 → 635

7WD40; WD40 repeat [structural motif]

cl11493
Location:714 → 938

PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins

cl17068
Location:39 → 380

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001286670.2 → NP_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/TrEMBL

B4DFZ3

Conserved Domains (5) summary

pfam00550
Location:72 → 141

PP-binding; Phosphopantetheine attachment site

pfam13360
Location:311 → 571

PQQ_2; PQQ-like domain

sd00039
Location:269 → 303

7WD40; WD40 repeat [structural motif]

cl11493
Location:382 → 606

PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins

cl17068
Location:3 → 48

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001286671.2 → NP_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/TrEMBL

B4E195

Related

ENSP00000409656.1, ENST00000451613.5

Conserved Domains (3) summary

TIGR01733
Location:68 → 474

AA-adenyl-dom; amino acid adenylation domain

pfam00550
Location:557 → 626

PP-binding; Phosphopantetheine attachment site

cl17068
Location:16 → 533

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001286672.2 → NP_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/TrEMBL

B4E195

Related

ENSP00000421171.1, ENST00000502617.1

Conserved Domains (3) summary

TIGR01733
Location:68 → 474

AA-adenyl-dom; amino acid adenylation domain

pfam00550
Location:557 → 626

PP-binding; Phosphopantetheine attachment site

cl17068
Location:16 → 533

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001323890.2 → NP_001310819.1 beta-alanine-activating enzyme isoform 7

Status: REVIEWED

Source sequence(s)

AC068620, BC142709

UniProtKB/TrEMBL

B4E2K0
NM_001323892.2 → NP_001310821.1 beta-alanine-activating enzyme isoform 8

Status: REVIEWED

Source sequence(s)

AC068620, BC142709

UniProtKB/TrEMBL

B4E195

Conserved Domains (3) summary

TIGR01733
Location:68 → 474

AA-adenyl-dom; amino acid adenylation domain

pfam00550
Location:557 → 626

PP-binding; Phosphopantetheine attachment site

cl17068
Location:16 → 533

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001323893.2 → NP_001310822.1 beta-alanine-activating enzyme isoform 9

Status: REVIEWED

Source sequence(s)

AK303733, AK304309, AK316296, AY314787, BC142709, DC306784

UniProtKB/TrEMBL

B4E195

Conserved Domains (2) summary

pfam00550
Location:404 → 473

PP-binding; Phosphopantetheine attachment site

cl17068
Location:39 → 380

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001323899.2 → NP_001310828.1 beta-alanine-activating enzyme isoform 10

Status: REVIEWED

Source sequence(s)

AC068620, BC142709

UniProtKB/TrEMBL

B4DFZ3
NM_181806.4 → NP_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

A5D8V3, A5PL22, Q4L235, Q63HK2, Q63HR7, Q6IPP8, Q6TFZ6, Q7Z5Y3, Q96BW4, Q9P064

UniProtKB/TrEMBL

B4E2K0

Related

ENSP00000205214.6, ENST00000205214.11

Conserved Domains (6) summary

TIGR01733
Location:68 → 474

AA-adenyl-dom; amino acid adenylation domain

pfam00550
Location:557 → 626

PP-binding; Phosphopantetheine attachment site

pfam13360
Location:796 → 1056

PQQ_2; PQQ-like domain

sd00039
Location:754 → 788

7WD40; WD40 repeat [structural motif]

cl11493
Location:867 → 1091

PQQ_DH_like; PQQ-dependent dehydrogenases and related proteins

cl17068
Location:16 → 533

AFD_class_I; Adenylate forming domain, Class I superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

56338290..56387491 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007743.3 → XP_016863232.1 beta-alanine-activating enzyme isoform X3

UniProtKB/TrEMBL

B4E195
XM_017007740.3 → XP_016863229.1 beta-alanine-activating enzyme isoform X2

UniProtKB/TrEMBL

B4E2K0
XM_047449614.1 → XP_047305570.1 beta-alanine-activating enzyme isoform X1
XM_047449615.1 → XP_047305571.1 beta-alanine-activating enzyme isoform X4