Chchd3 coiled-coil-helix-coiled-coil-helix domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chchd3provided by MGI
Official Full Name: coiled-coil-helix-coiled-coil-helix domain containing 3provided by MGI
Primary source: MGI:MGI:1913325
See related: Ensembl:ENSMUSG00000053768 AllianceGenome:MGI:1913325
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Micos19; 0610041L09Rik; 1700039J09Rik
Summary: Enables molecular adaptor activity. Predicted to be involved in cristae formation and mitochondrial fusion. Located in mitochondrial inner membrane. Is expressed in central nervous system; liver lobe; orbito-sphenoid; retina; and thymus primordium. Orthologous to human CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in heart adult (RPKM 56.0), duodenum adult (RPKM 32.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.3; 6 13.97 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (32769142..33037206, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (32792207..33060273, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease.
Title: Mic19 depletion impairs endoplasmic reticulum-mitochondrial contacts and mitochondrial lipid metabolism and triggers liver disease.
Liver mitochondrial cristae organizing protein MIC19 promotes energy expenditure and pedestrian locomotion by altering nucleotide metabolism.
Title: Liver mitochondrial cristae organizing protein MIC19 promotes energy expenditure and pedestrian locomotion by altering nucleotide metabolism.
ChChd3 is a scaffolding protein that stabilizes protein complexes involved in maintaining crista architecture and protein import and is thus essential for maintaining mitochondrial structure and function.
Title: ChChd3, an inner mitochondrial membrane protein, is essential for maintaining crista integrity and mitochondrial function.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Transgenic (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH126636 (e-PCR)
- UniSTS:207935

AW558177 (e-PCR)
- UniSTS:179357

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular adaptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cristae formation	IEA Inferred from Electronic Annotation more info
involved_in cristae formation	ISO Inferred from Sequence Orthology more info
involved_in inner mitochondrial membrane organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial fusion	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial fusion	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of MICOS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MICOS complex	IEA Inferred from Electronic Annotation more info
part_of MICOS complex	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: MICOS complex subunit Mic19

Names: coiled-coil-helix-coiled-coil-helix domain-containing protein 3, 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_001355667.1 → NP_001342596.1 MICOS complex subunit Mic19

Status: VALIDATED

Source sequence(s)

AC152943, AC156288

UniProtKB/TrEMBL

D3Z0L4

Related

ENSMUSP00000123220.2, ENSMUST00000127666.8

Conserved Domains (1) summary

pfam05300
Location:15 → 180

DUF737; Protein of unknown function (DUF737)
NM_025336.2 → NP_079612.1 MICOS complex subunit Mic19

See identical proteins and their annotated locations for NP_079612.1

Status: VALIDATED

Source sequence(s)

AC152943, AC156288

Consensus CDS

CCDS19986.1

UniProtKB/Swiss-Prot

Q9CRB9

UniProtKB/TrEMBL

Q91VG6

Related

ENSMUSP00000070149.5, ENSMUST00000066379.11

Conserved Domains (1) summary

pfam05300
Location:15 → 175

DUF737; Protein of unknown function (DUF737)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

32769142..33037206 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036152261.1 → XP_036008154.1 MICOS complex subunit Mic19 isoform X2

Related

ENSMUSP00000110743.2, ENSMUST00000115091.2

Conserved Domains (1) summary

pfam05300
Location:20 → 151

DUF737; Protein of unknown function (DUF737)
XM_006506468.5 → XP_006506531.1 MICOS complex subunit Mic19 isoform X1

Conserved Domains (1) summary

pfam05300
Location:15 → 156

DUF737; Protein of unknown function (DUF737)