RTN4IP1 reticulon 4 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RTN4IP1provided by HGNC
Official Full Name: reticulon 4 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:18647
See related: Ensembl:ENSG00000130347 MIM:610502; AllianceGenome:HGNC:18647
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: NIMP; OPA10
Summary: This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression: Ubiquitous expression in skin (RPKM 10.5), placenta (RPKM 7.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q21

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (106570771..106630491, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (107746918..107806978, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (107018646..107078366, complement)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Title: A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Title: Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Title: A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
Title: Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
This study showed that large spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathy, can be associated with biallelic mutations in RTN4IP1.
Title: Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Title: Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
RTN4IP1 has a tumor-suppressive function and may regulate thyroid cancer progression.
Title: RTN4IP1 is down-regulated in thyroid cancer and has tumor-suppressive function.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures MedGen: C4225227 OMIM: 616732 GeneReviews: Not available	Compare labs

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

RH120076 (e-PCR)
- UniSTS:133399

D17S1152 (e-PCR)
- UniSTS:149119

L30021 (e-PCR)
- UniSTS:3276

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADPH dehydrogenase (quinone) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ubiquinone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: reticulon-4-interacting protein 1, mitochondrial

Names: NOGO-interacting mitochondrial protein

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_047205.1 RefSeqGene

Range

6003..64730

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318746.1 → NP_001305675.1 reticulon-4-interacting protein 1, mitochondrial isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks aportion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AK095207, AL390074, BC006399

UniProtKB/TrEMBL

B2R9Y1

Conserved Domains (1) summary

cd08248
Location:1 → 294

RTN4I1; Human Reticulon 4 Interacting Protein 1
NM_032730.5 → NP_116119.2 reticulon-4-interacting protein 1, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_116119.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK095207, AL390074, BC006399

Consensus CDS

CCDS5056.1

UniProtKB/Swiss-Prot

Q8N9B3, Q8WWV3, Q8WZ66, Q9BRA4

UniProtKB/TrEMBL

Q96RL8

Related

ENSP00000358059.3, ENST00000369063.8

Conserved Domains (1) summary

cd08248
Location:43 → 394

RTN4I1; Human Reticulon 4 Interacting Protein 1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

106570771..106630491 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011536192.3 → XP_011534494.1 reticulon-4-interacting protein 1, mitochondrial isoform X1

UniProtKB/TrEMBL

B2R9Y1

Conserved Domains (2) summary

cd08248
Location:12 → 314

RTN4I1; Human Reticulon 4 Interacting Protein 1

smart00829
Location:16 → 313

PKS_ER; Enoylreductase
XM_017011376.3 → XP_016866865.1 reticulon-4-interacting protein 1, mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

107746918..107806978 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356583.1 → XP_054212558.1 reticulon-4-interacting protein 1, mitochondrial isoform X1
XM_054356584.1 → XP_054212559.1 reticulon-4-interacting protein 1, mitochondrial isoform X2