ALDOA aldolase A, fructose-bisphosphate [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: ALDOAprovided by HGNC
Official Full Name: aldolase A, fructose-bisphosphateprovided by HGNC
Primary source: HGNC:414
See related: Ensembl:ENSG00000149925; HPRD:00070; MIM:103850; Vega:OTTHUMG00000132107
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: ALDA; GSD12; MGC10942; MGC17716; MGC17767
Summary: The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Aug 2011]

Help top of page

Genomic context

Location :: 16p11.2

Sequence :: Chromosome: 16; NC_000016.9 (30064491..30081735)

See ALDOA in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

ALDOA is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
Data that aldolase forms a complex with ARNO/Arf6 and the V-ATPase and that it may contribute to remodeling of the actin cytoskeleton.
Title: Aldolase directly interacts with ARNO and modulates cell morphology and acidic vesicle distribution.
Posttranslational nitration of aldolase A may be an important pathway that regulates mast cell phenotype and function.
Title: Protein tyrosine nitration of aldolase in mast cells: a plausible pathway in nitric oxide-mediated regulation of mast cell function.
ALDOA is involved in keratinocyte migration following the induction of lamellipodia formation, and ALDOA-related migration is enhanced by EGF
Title: Fructose-1,6-bisphosphate aldolase A is involved in HaCaT cell migration by inducing lamellipodia formation.
melanoma antigen expressed in G361, a representative melanoma cell line/ reacted with autoantibodies in patient sera
Title: Identification of melanoma antigens using a Serological Proteome Approach (SERPA).
This protein has been found differentially expressed in the anterior cingulate cortex from patients with schizophrenia
Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
ZNF224 recruits the arginine methyltransferase PRMT5 on the transcriptional repressor complex of the aldolase A gene
Title: The Kruppel-like zinc finger protein ZNF224 recruits the arginine methyltransferase PRMT5 on the transcriptional repressor complex of the aldolase A gene.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association and mutation analyses of 16p11.2 autism candidate genes.
The existence of highly AMP-sensitive muscle-like FBPase, activity of which is regulated by metabolite-dependent interaction with aldolase enables the precise regulation of muscle energy expenditures.
Title: Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase.
Results identify VDAC2 and aldolase A as membrane proteins of K562 cells with increased expression under iron deprivation.
Title: VDAC2 and aldolase A identified as membrane proteins of K562 cells with increased expression under iron deprivation.

Submit: New GeneRIF Correction See all (12)

Help top of page

Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
P04075	P04075	ALDOA	HPRD	PubMed
P04075	P36543	ATP6V1E1	HPRD	PubMed
P04075	P63167	DYNLL1	HPRD	PubMed
P04075	P43304	GPD2	HPRD	PubMed
P04075	Q99972	MYOC	HPRD	PubMed
P04075	O14939	PLD2	HPRD	PubMed
P04075	Q6EEV6	SUMO4	HPRD	PubMed
P04075	P21980	TGM2	HPRD	PubMed
P04075	P07437	TUBB	HPRD	PubMed
P04075	Q8IZH2	XRN1	HPRD	PubMed
BioGRID:106728	BioGRID:107012	ATP6V1E1	BioGRID	PubMed	Two-hybrid
BioGRID:106728	BioGRID:107227	CACNA1A	BioGRID	PubMed	Two-hybrid
BioGRID:106728	BioGRID:108276	EGFR	BioGRID	PubMed	PCA
BioGRID:106728	BioGRID:108472	FANCA	BioGRID	PubMed	Two-hybrid
BioGRID:106728	BioGRID:109268	H2AFX	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:204968	Mapk13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:125385	OSBPL10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:106728	BioGRID:111354	PLD2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106728	BioGRID:111657	PSMA3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:132223	SUMO4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:124195	TRIM63	BioGRID	PubMed	Two-hybrid
BioGRID:106728	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:115283	USP15	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106728	BioGRID:119970	XRN1	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
actin binding	TAS Traceable Author Statement more info	PubMed
cytoskeletal protein binding	IDA Inferred from Direct Assay more info	PubMed
fructose binding	IDA Inferred from Direct Assay more info	PubMed
fructose-bisphosphate aldolase activity	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	TAS Traceable Author Statement more info	PubMed
lyase activity	IEA Inferred from Electronic Annotation more info
tubulin binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ATP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
actin filament organization	TAS Traceable Author Statement more info	PubMed
blood coagulation	TAS Traceable Author Statement more info
carbohydrate metabolic process	TAS Traceable Author Statement more info
fructose 1,6-bisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
fructose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
gluconeogenesis	TAS Traceable Author Statement more info
glucose metabolic process	TAS Traceable Author Statement more info
glycolysis	IMP Inferred from Mutant Phenotype more info	PubMed
glycolysis	TAS Traceable Author Statement more info
muscle cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
platelet activation	TAS Traceable Author Statement more info
platelet degranulation	TAS Traceable Author Statement more info
protein homotetramerization	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell shape	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
I band	TAS Traceable Author Statement more info	PubMed
actin cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular vesicular exosome	IDA Inferred from Direct Assay more info	PubMed
platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

Preferred Names: fructose-bisphosphate aldolase A

Names: fructose-bisphosphate aldolase A; muscle-type aldolase; lung cancer antigen NY-LU-1; fructose-1,6-bisphosphate triosephosphate-lyase

NP_000025.1

EC 4.1.2.13

NP_001121089.1

EC 4.1.2.13

NP_908930.1

EC 4.1.2.13

NP_908932.1

EC 4.1.2.13

Help top of page

NCBI Reference Sequences (RefSeq)

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_008010.1 RefSeqGene

Range

4921..22251

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000034.3 → NP_000025.1 fructose-bisphosphate aldolase A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. Variants 2-4 encode the same isoform.

Source sequence(s)

BC004333, BU855133, DB057572

Consensus CDS

CCDS10668.1

UniProtKB/Swiss-Prot

P04075

Related

ENSP00000336927, OTTHUMP00000255843, ENST00000338110, OTTHUMT00000435359

Conserved Domains (1) summary

cd00948
Location:13 – 343
Blast Score: 1601

FBP_aldolase_I_a; Fructose-1,6-bisphosphate aldolase
NM_001127617.2 → NP_001121089.1 fructose-bisphosphate aldolase A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).

Source sequence(s)

BU855133, BX647566, DA899482

Consensus CDS

CCDS10668.1

UniProtKB/Swiss-Prot

P04075

Related

ENSP00000400452, OTTHUMP00000255849, ENST00000412304, OTTHUMT00000435370

Conserved Domains (1) summary

cd00948
Location:13 – 343
Blast Score: 1601

FBP_aldolase_I_a; Fructose-1,6-bisphosphate aldolase
NM_001243177.1 → NP_001230106.1 fructose-bisphosphate aldolase A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting isoform (2) is longer at the N-terminus, compared to isoform 1.

Source sequence(s)

AK301993, BU855133, DA138954

UniProtKB/Swiss-Prot

P04075

Conserved Domains (1) summary

cd00948
Location:67 – 397
Blast Score: 1608

FBP_aldolase_I_a; Fructose-1,6-bisphosphate aldolase
NM_184041.2 → NP_908930.1 fructose-bisphosphate aldolase A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).

Source sequence(s)

BC010660, BU855133, DA138954

Consensus CDS

CCDS10668.1

UniProtKB/Swiss-Prot

P04075

Related

ENSP00000455917, OTTHUMP00000162983, ENST00000564546, OTTHUMT00000255145

Conserved Domains (1) summary

cd00948
Location:13 – 343
Blast Score: 1601

FBP_aldolase_I_a; Fructose-1,6-bisphosphate aldolase
NM_184043.2 → NP_908932.1 fructose-bisphosphate aldolase A isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-4 encode the same isoform (1).

Source sequence(s)

BC013614, BU855133, CB151262, DA564075

Consensus CDS

CCDS10668.1

UniProtKB/Swiss-Prot

P04075

Related

ENSP00000455800, OTTHUMP00000255848, ENST00000563060, OTTHUMT00000435368

Conserved Domains (1) summary

cd00948
Location:13 – 343
Blast Score: 1601

FBP_aldolase_I_a; Fructose-1,6-bisphosphate aldolase

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p5 Primary Assembly

Range

30064491..30081735

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

27726048..27743003

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001243175.1: Suppressed sequence

Description

NM_001243175.1: This RefSeq was permanently suppressed because it contains an upstream ORF that renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC093512.2 (121218..138462)	None
genomic	CH471238.1	EAW79933.1
		EAW79934.1
		EAW79935.1
		EAW79936.1
genomic	X06352.1	CAA29654.1
genomic	X12447.1	CAA30979.1
mRNA	AK026577.1	None
mRNA	AK098778.1	None
mRNA	AK301993.1	BAG63399.1
mRNA	AK308495.1	None
mRNA	AK308748.1	None
mRNA	BC000367.2	AAH00367.2
mRNA	BC004333.1	AAH04333.1
mRNA	BC010660.1	AAH10660.1
mRNA	BC012880.1	AAH12880.1
mRNA	BC013614.1	AAH13614.1
mRNA	BC015888.2	AAH15888.1
mRNA	BC016170.1	AAH16170.1
mRNA	BC016800.1	AAH16800.1
mRNA	BE893518.1	None
mRNA	BQ719865.1	None
mRNA	BU855133.1	None
mRNA	BX647566.1	None
mRNA	CB151262.1	None
mRNA	CR536528.1	CAG38765.1
mRNA	CR541880.1	CAG46678.1
mRNA	D28356.1	BAA05722.1
mRNA	DA138954.1	None
mRNA	DA564075.1	None
mRNA	DA893541.1	None
mRNA	DA899482.1	None
mRNA	DB057572.1	None
mRNA	EF036496.1	ABO65082.1
mRNA	EF036497.1	ABO65083.1
mRNA	M11560.1	AAA51690.1
mRNA	M21190.1	AAA51697.1
mRNA	X05236.1	CAA28861.1
other-genetic	DQ891065.2	ABM81991.1
other-genetic	DQ894246.2	ABM85172.1