Format

Send to:

Choose Destination

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

Gene ID: 25915, updated on 20-Jun-2019

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
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

Genomic context

See NDUFAF3 in Genome Data Viewer
Location:
3p21.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (49020475..49023495)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49057908..49060928)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 6 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 425 Neighboring gene microRNA 191 Neighboring gene inosine monophosphate dehydrogenase 2 Neighboring gene glutamine rich 1 Neighboring gene RNA, 7SL, cytoplasmic 182, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10527, DKFZp564J0123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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

  1. NG_016282.1 RefSeqGene

    Range
    5001..8021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_199069.2NP_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
    UniProtKB/TrEMBL
    Q9Y3Z0
    Related
    ENSP00000323076.5, ENST00000326925.10
    Conserved Domains (1) summary
    cd05125
    Location:58171
    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 ...
  2. NM_199070.1NP_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:1114
    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 ...
  3. NM_199073.1NP_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, CD358942
    Consensus CDS
    CCDS2785.1
    UniProtKB/TrEMBL
    A4FU71
    Related
    ENSP00000378843.2, ENST00000395458.6
    Conserved Domains (1) summary
    cd05125
    Location:1114
    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 ...
  4. NM_199074.1NP_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, BQ652614
    Consensus CDS
    CCDS2785.1
    UniProtKB/TrEMBL
    A4FU71
    Related
    ENSP00000323003.4, ENST00000326912.8
    Conserved Domains (1) summary
    cd05125
    Location:1114
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    49020475..49023495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_199417.1: Suppressed sequence

    Description
    NM_199417.1: This RefSeq was permanently suppressed because the transcript contains intronic sequence.
Support Center