MMADHC methylmalonic aciduria and homocystinuria, cblD type [Gallus gallus (chicken)] - Gene

Summary

Official Symbol: MMADHCprovided by CGNC
Official Full Name: methylmalonic aciduria and homocystinuria, cblD typeprovided by CGNC
Primary source: CGNC:9474
See related: Ensembl:ENSGALG00010009609
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Gallus gallus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
Also known as: CblD; C2orf25
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 7

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
106	current	bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2)	7	NC_052538.1 (34533219..34545963, complement)
106	current	bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2)	7	NC_052579.1 (34451032..34463762, complement)

Chromosome 7 - NC_052538.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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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Gene Ontology Provided by RefSeq

Process	Evidence Code	Pubs
involved_in cobalamin metabolic process	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: cobalamin trafficking protein CblD

Names: methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; methylmalonic aciduria and homocystinuria type D homolog, mitochondrial

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_001008477.2 → NP_001008477.1 cobalamin trafficking protein CblD precursor

See identical proteins and their annotated locations for NP_001008477.1

Status: PROVISIONAL

Source sequence(s)

JAENSK010000236

UniProtKB/Swiss-Prot

Q5ZKP2

UniProtKB/TrEMBL

A0A8V0Y6Q1

Related

ENSGALP00010013242.1, ENSGALT00010022912.1

Conserved Domains (1) summary

pfam10229
Location:24 → 293

DUF2246; Uncharacterized conserved protein (DUF2246)

RefSeqs of Annotated Genomes: Gallus gallus Annotation Release 106 details...

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

Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Genomic

NC_052538.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Range

34533219..34545963 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_046943654.1 → XP_046799610.1 cobalamin trafficking protein CblD isoform X1

UniProtKB/Swiss-Prot

Q5ZKP2

UniProtKB/TrEMBL

A0A8V0Y6Q1

Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Genomic

NC_052579.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Range

34451032..34463762 complement

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GenBank, FASTA, Sequence Viewer (Graphics)