mmachc metabolism of cobalamin associated C [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mmachcprovided by ZNC
Official Full Name: metabolism of cobalamin associated Cprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-3167
See related: Ensembl:ENSDARG00000043877 AllianceGenome:ZFIN:ZDB-GENE-030131-3167
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: CblC; fc29d04; wu:fc29d04; si:zfos-47c12.1
Summary: Predicted to enable FAD binding activity; cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity; and demethylase activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 20

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (1385692..1393020)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (1364866..1372194)

Chromosome 20 - NC_007131.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Title: The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression
Title: Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables FAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables cyanocobalamin reductase (cyanide-eliminating) (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cobalamin metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryonic viscerocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cyanocobalamin reductase / alkylcobalamin dealkylase

Names: alkylcobalamin:glutathione S-alkyltransferase; cyanocobalamin reductase (cyanide-eliminating); methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduria and homocystinuria type C protein homolog

NP_001108361.2

EC 1.16.1.6

EC 2.5.1.151

XP_021324095.1

EC 1.16.1.6

EC 2.5.1.151

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_001114889.2 → NP_001108361.2 cyanocobalamin reductase / alkylcobalamin dealkylase

See identical proteins and their annotated locations for NP_001108361.2

Status: VALIDATED

Source sequence(s)

CR854946, EH554822

UniProtKB/Swiss-Prot

Q5RFU5

Related

ENSDARP00000117903.1, ENSDART00000145981.3

Conserved Domains (1) summary

pfam16690
Location:23 → 239

MMACHC; Methylmalonic aciduria and homocystinuria type C family

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007131.7 Reference GRCz11 Primary Assembly

Range

1385692..1393020

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021468420.2 → XP_021324095.1 cyanocobalamin reductase / alkylcobalamin dealkylase isoform X1

UniProtKB/TrEMBL

A0A8M9PSN9

Conserved Domains (1) summary

pfam16690
Location:23 → 238

MMACHC; Methylmalonic aciduria and homocystinuria type C family