RANGRF RAN guanine nucleotide release factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: RANGRFprovided by HGNC
Official Full Name: RAN guanine nucleotide release factorprovided by HGNC
Primary source: HGNC:HGNC:17679
See related: Ensembl:ENSG00000108961 MIM:607954; AllianceGenome:HGNC:17679
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MOG1; HSPC165; HSPC236; RANGNRF
Summary: This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Expression: Broad expression in testis (RPKM 13.3), endometrium (RPKM 7.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8288670..8290087)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8194912..8196329)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8191988..8193405)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The MOG1 domain required for the interaction with Nav1.5 to the region spanning amino acids 146-174, and a refined deletion analysis further narrowed this domain to amino acids146-155.
Title: Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Na(v)1.5 clarify the molecular basis of Brugada syndrome.
Suggest that p.E61X_RANGRF is a rare genetic variation with an uncertain role in Brugada Syndrome.
Title: Brugada syndrome and p.E61X_RANGRF.
Compound mutation of CACNA2D1 and RANGRF genes were found. To the best of our knowledge, this is the first comprehensive description of the concurrence of these two mutations and histiocytoid cardiomyopathy.
Title: The perfect storm? Histiocytoid cardiomyopathy and compound CACNA2D1 and RANGRF mutation in a baby.
Results suggest that dominant-negative mutations in MOG1 can impair the trafficking of Na(v)1.5 to the membrane, leading to I(Na) reduction and clinical manifestation of Brugada syndrome.
Title: MOG1: a new susceptibility gene for Brugada syndrome.
Our screening of Nav1.5 cofactor MOG1 uncovered a novel nonsense variant that appeared to be present at a higher frequency among these patients with atrial fibrillation and Brugada syndrome than control subjects.
Title: A novel nonsense variant in Nav1.5 cofactor MOG1 eliminates its sodium current increasing effect and may increase the risk of arrhythmias.
in cardiomyocytes, MOG1 is mostly localized in the cell membrane and co-localized with Nav1.5, indicating that MOG1 is a critical regulator of sodium channel function in the heart
Title: Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH46164 (e-PCR)
- UniSTS:21253

G20744 (e-PCR)
- UniSTS:5283

A006E21 (e-PCR)
- UniSTS:5284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein exit from endoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bundle of His cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate	TAS Traceable Author Statement more info	PubMed
involved_in regulation of membrane depolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane depolarization during cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane depolarization during cardiac muscle cell action potential	TAS Traceable Author Statement more info	PubMed
involved_in regulation of membrane potential	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of sodium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of sodium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of sodium ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercalated disc	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in rough endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ran guanine nucleotide release factor

Names: MOG1 homolog; ran-binding protein MOG1

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.

Genomic

NG_028189.1 RefSeqGene

Range

5020..6437

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177801.2 → NP_001171272.1 ran guanine nucleotide release factor isoform B

See identical proteins and their annotated locations for NP_001171272.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate segment in the coding region, resulting in a frameshift, compared to variant (1). It encodes isoform B, which has a shorter C-terminus, compared to isoform A.

Source sequence(s)

AF265205, CN396019

Consensus CDS

CCDS54086.1

UniProtKB/Swiss-Prot

Q9HD47

Related

ENSP00000383940.4, ENST00000407006.8

Conserved Domains (1) summary

cd00224
Location:7 → 146

Mog1; homolog to Ran-Binding Protein Mog1p; binds to the small GTPase Ran, which plays an important role in nuclear import. Binding is independent of Ran's nucleotide state (RanGTP/RanGDP)
NM_001177802.2 → NP_001171273.1 ran guanine nucleotide release factor isoform C

See identical proteins and their annotated locations for NP_001171273.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate segment in the coding region, resulting in a frameshift, compared to variant (1). It encodes isoform C, which has a shorter and distinct C-terminus, compared to isoform A.

Source sequence(s)

AC135178, BC006486, CN396019

Consensus CDS

CCDS54087.1

UniProtKB/Swiss-Prot

Q9HD47

Related

ENSP00000413190.3, ENST00000439238.3

Conserved Domains (1) summary

cl00169
Location:7 → 119

Mog1; homolog to Ran-Binding Protein Mog1p; binds to the small GTPase Ran, which plays an important role in nuclear import. Binding is independent of Ran's nucleotide state (RanGTP/RanGDP)
NM_001330127.2 → NP_001317056.1 ran guanine nucleotide release factor isoform D

Status: REVIEWED

Source sequence(s)

AC135178, CR749387, HY034192

Consensus CDS

CCDS82066.1

UniProtKB/Swiss-Prot

Q9HD47

Related

ENSP00000462310.1, ENST00000580434.5

Conserved Domains (1) summary

cl00169
Location:7 → 117

Mog1; homolog to Ran-Binding Protein Mog1p; binds to the small GTPase Ran, which plays an important role in nuclear import. Binding is independent of Ran's nucleotide state (RanGTP/RanGDP)
NM_016492.5 → NP_057576.2 ran guanine nucleotide release factor isoform A

See identical proteins and their annotated locations for NP_057576.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (A).

Source sequence(s)

AF265206, CN396019

Consensus CDS

CCDS11137.1

UniProtKB/Swiss-Prot

D3DTR6, Q68DI3, Q9BR68, Q9HD47, Q9HD48, Q9NRU9, Q9P001, Q9P0P2

Related

ENSP00000226105.6, ENST00000226105.11

Conserved Domains (1) summary

cd00224
Location:7 → 184

Mog1; homolog to Ran-Binding Protein Mog1p; binds to the small GTPase Ran, which plays an important role in nuclear import. Binding is independent of Ran's nucleotide state (RanGTP/RanGDP)