Chml choroideremia-like [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chmlprovided by MGI
Official Full Name: choroideremia-likeprovided by MGI
Primary source: MGI:MGI:101913
See related: Ensembl:ENSMUSG00000078185 AllianceGenome:MGI:101913
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: Rep2; REP-2; E030003F13Rik
Summary: Predicted to enable small GTPase binding activity. Predicted to be involved in protein geranylgeranylation and vesicle-mediated transport. Predicted to be located in nucleoplasm. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in nervous system. Human ortholog(s) of this gene implicated in asthma. Orthologous to human CHML (CHM like Rab escort protein). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 81.7 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (175509803..175515919, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (175682237..175688353, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Homology

Homologs of the Chml gene: The Chml gene is conserved in human, chimpanzee, dog, cow, rat, zebrafish, C.elegans, A.thaliana, and rice.
Orthologs from Annotation Pipeline: 185 organisms have orthologs with human gene Chml
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GDP-dissociation inhibitor activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein geranylgeranylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein geranylgeranylation	ISO Inferred from Sequence Orthology more info
involved_in small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
part_of Rab-protein geranylgeranyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of Rab-protein geranylgeranyltransferase complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: rab proteins geranylgeranyltransferase component A 2

Names: choroideraemia-like protein; choroideremia-like protein; rab escort protein-2

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_021350.3 → NP_067325.2 rab proteins geranylgeranyltransferase component A 2

See identical proteins and their annotated locations for NP_067325.2

Status: VALIDATED

Source sequence(s)

AC124366

Consensus CDS

CCDS35796.1

UniProtKB/Swiss-Prot

Q9QZD5

UniProtKB/TrEMBL

A0A0R4J1A1

Related

ENSMUSP00000147889.2, ENSMUST00000211207.2

Conserved Domains (1) summary

cl21454
Location:6 → 528

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins