NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFAF3provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase complex assembly factor 3provided by HGNC
Primary source: HGNC:HGNC:29918
See related: Ensembl:ENSG00000178057 MIM:612911; AllianceGenome:HGNC:29918
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: 2P1; E3-3; C3orf60; MC1DN18
Summary: This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
Expression: Broad expression in testis (RPKM 52.4), fat (RPKM 20.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49020452..49023495)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49048492..49051535)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49057885..49060928)

Chromosome 3 - NC_000003.12 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 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Describes a similar transcript in rat, and compares it to human and mouse transcripts.
Title: Molecular cloning of a novel alternatively spliced nuclear protein.
Describes a similar transcript in mouse.
Title: 2P1, a novel male mouse cDNA specifically expressed during meiosis.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Title: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

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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
Mitochondrial complex 1 deficiency, nuclear type 18 MedGen: C4748790 OMIM: 618240 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex I assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH dehydrogenase (ubiquinone) complex I, assembly factor 3; nuclear protein E3-3

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_016282.1 RefSeqGene

Range

6647..8021

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_199069.2 → NP_951032.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a precursor

See identical proteins and their annotated locations for NP_951032.1

Status: REVIEWED

Description

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

Source sequence(s)

AA907148, BC002873

Consensus CDS

CCDS2784.1

UniProtKB/Swiss-Prot

Q9BU61

Related

ENSP00000323076.5, ENST00000326925.11

Conserved Domains (1) summary

cd05125
Location:58 → 171

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...
NM_199070.2 → NP_951033.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

See identical proteins and their annotated locations for NP_951033.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AA907148, AL049955

Consensus CDS

CCDS2785.1

UniProtKB/TrEMBL

A4FU71, Q9Y3Z0

Related

ENSP00000402465.2, ENST00000451378.2

Conserved Domains (1) summary

cd05125
Location:1 → 114

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...
NM_199073.2 → NP_951047.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

See identical proteins and their annotated locations for NP_951047.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AA907148, AC137630, CD358942

Consensus CDS

CCDS2785.1

UniProtKB/TrEMBL

A4FU71, Q9Y3Z0

Related

ENSP00000378843.2, ENST00000395458.6

Conserved Domains (1) summary

cd05125
Location:1 → 114

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...
NM_199074.2 → NP_951056.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

See identical proteins and their annotated locations for NP_951056.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AA907148, AC137630, BQ652614

Consensus CDS

CCDS2785.1

UniProtKB/TrEMBL

A4FU71, Q9Y3Z0

Related

ENSP00000323003.4, ENST00000326912.8

Conserved Domains (1) summary

cd05125
Location:1 → 114

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...