alas2 aminolevulinate, delta-, synthase 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: alas2provided by ZNC
Official Full Name: aminolevulinate, delta-, synthase 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-001229-1
See related: Ensembl:ENSDARG00000038643 AllianceGenome:ZFIN:ZDB-GENE-001229-1
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: sau; alas-e; cb1063; sauternes; si:dkey-24f17.4
Summary: Predicted to enable 5-aminolevulinate synthase activity. Acts upstream of or within heme biosynthetic process; hemoglobin biosynthetic process; and hemopoiesis. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Is expressed in erythroid progenitor cell; hematopoietic system; mesoderm; and pronephric duct. Used to study sideroblastic anemia. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: chromosome: 8

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	8	NC_007119.7 (21353940..21369028)
105	previous assembly	GRCz10 (GCF_000002035.5)	8	NC_007119.6 (21321855..21336943)

Chromosome 8 - NC_007119.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

fj66h12.x1 (e-PCR)
- UniSTS:199813

fl07a09.x1 (e-PCR)
- UniSTS:201912

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables 5-aminolevulinate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 5-aminolevulinate synthase activity	IEA Inferred from Electronic Annotation more info
enables 5-aminolevulinate synthase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within erythrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heme biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heme biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heme biosynthetic process	IMP Inferred from Mutant Phenotype more info
involved_in heme biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hemoglobin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hemoglobin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hemoglobin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hemoglobin metabolic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hemoglobin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within porphyrin-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protoporphyrinogen IX biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within tetrapyrrole biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: 5-aminolevulinate synthase, erythroid-specific, mitochondrial

Names: 5-aminolevulinate synthase 2; 5-aminolevulinic acid synthase 2; aminolevulinate, delta-, synthetase 2; delta-ALA synthase 2; delta-ALA synthetase; delta-aminolevulinate synthase 2

NP_571757.1

EC 2.3.1.37

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_131682.2 → NP_571757.1 5-aminolevulinate synthase, erythroid-specific, mitochondrial

See identical proteins and their annotated locations for NP_571757.1

Status: PROVISIONAL

Source sequence(s)

BC056338

UniProtKB/Swiss-Prot

Q6NXC5, Q9YHT4

Related

ENSDARP00000056419.3, ENSDART00000056420.4

Conserved Domains (3) summary

COG0156
Location:138 → 535

BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]

pfam09029
Location:3 → 98

Preseq_ALAS; 5-aminolevulinate synthase presequence

cl18945
Location:138 → 542

AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...