Chm CHM Rab escort protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chmprovided by MGI
Official Full Name: CHM Rab escort proteinprovided by MGI
Primary source: MGI:MGI:892979
See related: Ensembl:ENSMUSG00000025531 AllianceGenome:MGI:892979
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: Rep-1
Summary: Predicted to enable enzyme-substrate adaptor activity and small GTPase binding activity. Acts upstream of or within blood vessel development. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytosol and nucleus. Is expressed in urethra. Used to study choroideremia. Human ortholog(s) of this gene implicated in choroideremia. Orthologous to human CHM (CHM Rab escort protein). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in frontal lobe adult (RPKM 3.1), cerebellum adult (RPKM 2.6) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: X E1; X 48.94 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (111950289..112095236, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (113040592..113185539, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Loss of the Chm/Rep1 gene causes premature accumulation of features of aging in the retinal pigment epithelium.
Title: Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224978

px-11_b2 (e-PCR)
- UniSTS:257255

px-11_d1 (e-PCR)
- UniSTS:257258

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 enzyme-substrate adaptor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein geranylgeranylation	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein geranylgeranylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein targeting to membrane	ISO Inferred from Sequence Orthology more info
involved_in protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity 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

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

General protein information

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Preferred Names: rab proteins geranylgeranyltransferase component A 1

Names: choroideraemia protein homolog; choroideremia protein homolog; choroidermia (RAB escort protein 1); rab escort protein 1

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_001370788.1 → NP_001357717.1 rab proteins geranylgeranyltransferase component A 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL669958

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

Conserved Domains (1) summary

cl21454
Location:233 → 541

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001370789.1 → NP_001357718.1 rab proteins geranylgeranyltransferase component A 1 isoform 3

Status: VALIDATED

Source sequence(s)

AL669958

Consensus CDS

CCDS90746.1

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

UniProtKB/TrEMBL

Q3UR39

Related

ENSMUSP00000109015.3, ENSMUST00000113388.3

Conserved Domains (1) summary

cl21454
Location:6 → 503

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001370790.1 → NP_001357719.1 rab proteins geranylgeranyltransferase component A 1 isoform 4

Status: VALIDATED

Source sequence(s)

AL669958

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

Conserved Domains (1) summary

cl21454
Location:6 → 499

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
NM_001409667.1 → NP_001396596.1 rab proteins geranylgeranyltransferase component A 1 isoform 5

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409668.1 → NP_001396597.1 rab proteins geranylgeranyltransferase component A 1 isoform 6

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409669.1 → NP_001396598.1 rab proteins geranylgeranyltransferase component A 1 isoform 7

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409670.1 → NP_001396599.1 rab proteins geranylgeranyltransferase component A 1 isoform 8

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409675.1 → NP_001396604.1 rab proteins geranylgeranyltransferase component A 1 isoform 8

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409676.1 → NP_001396605.1 rab proteins geranylgeranyltransferase component A 1 isoform 8

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409677.1 → NP_001396606.1 rab proteins geranylgeranyltransferase component A 1 isoform 9

Status: VALIDATED

Source sequence(s)

AL669958
NM_001409678.1 → NP_001396607.1 rab proteins geranylgeranyltransferase component A 1 isoform 7

Status: VALIDATED

Source sequence(s)

AL669958
NM_018818.2 → NP_061288.2 rab proteins geranylgeranyltransferase component A 1 isoform 1

Status: VALIDATED

Source sequence(s)

AK021238, AK035956, AK141830, AL669958

Consensus CDS

CCDS41107.1

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

UniProtKB/TrEMBL

A2AD03

Related

ENSMUSP00000026607.9, ENSMUST00000026607.15

Conserved Domains (2) summary

cl21454
Location:234 → 542

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

cl27287
Location:8 → 46

GLF; UDP-galactopyranose mutase

RNA

NR_176881.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL669958
NR_176882.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL669958
NR_176883.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL669958
NR_176884.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL669958

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_000086.8 Reference GRCm39 C57BL/6J

Range

111950289..112095236 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006528381.4 → XP_006528444.1 rab proteins geranylgeranyltransferase component A 1 isoform X1

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

Conserved Domains (1) summary

cl21454
Location:6 → 476

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_006528382.5 → XP_006528445.1 rab proteins geranylgeranyltransferase component A 1 isoform X2

See identical proteins and their annotated locations for XP_006528445.1

UniProtKB/Swiss-Prot

Q80UV8, Q9QXG2

Conserved Domains (1) summary

cl21454
Location:161 → 469

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