Mmadhc metabolism of cobalamin associated D [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mmadhcprovided by RGD
Official Full Name: metabolism of cobalamin associated Dprovided by RGD
Primary source: RGD:1303272
See related: EnsemblRapid:ENSRNOG00000004740 AllianceGenome:RGD:1303272
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: CblD; RGD1303272
Summary: Predicted to be involved in cobalamin metabolic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol and mitochondrion. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblD. Orthologous to human MMADHC (metabolism of cobalamin associated D). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Kidney (RPKM 436.2), Heart (RPKM 397.7) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3q12

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (55117832..55135735, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (34708649..34726554, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (35783511..35801474, complement)

Chromosome 3 - NC_086021.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

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

RH142327 (e-PCR)
- UniSTS:231574

AI314967 (e-PCR)
- UniSTS:158963

Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
involved_in cobalamin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cobalamin metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cobalamin metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

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; methylmalonic aciduria and homocystinuria, cblD type

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_001004280.1 → NP_001004280.1 cobalamin trafficking protein CblD precursor

See identical proteins and their annotated locations for NP_001004280.1

Status: PROVISIONAL

Source sequence(s)

BC078953

UniProtKB/Swiss-Prot

Q6AYQ6

UniProtKB/TrEMBL

A6JF02

Related

ENSRNOP00000100141.1, ENSRNOT00000156984.1

Conserved Domains (1) summary

pfam10229
Location:24 → 293

MMADHC; Methylmalonic aciduria and homocystinuria type D protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

55117832..55135735 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006234158.4 → XP_006234220.2 cobalamin trafficking protein CblD isoform X1

UniProtKB/Swiss-Prot

Q6AYQ6

UniProtKB/TrEMBL

A6JF02

Conserved Domains (1) summary

pfam10229
Location:24 → 293

MMADHC; Methylmalonic aciduria and homocystinuria type D protein