NDUFAF7 NADH:ubiquinone oxidoreductase complex assembly factor 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFAF7provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase complex assembly factor 7provided by HGNC
Primary source: HGNC:HGNC:28816
See related: Ensembl:ENSG00000003509 MIM:615898; AllianceGenome:HGNC:28816
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: MidA; C2orf56; PRO1853
Summary: This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression: Ubiquitous expression in testis (RPKM 15.9), fat (RPKM 9.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p22.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (37231658..37271365)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (37238699..37278374)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (37458801..37498508)

Chromosome 2 - NC_000002.12 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?

We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia.
Title: A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.
NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development.
Title: The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
Title: NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
a role for MidA in complex I assembly or stability
Title: MidA is a putative methyltransferase that is required for mitochondrial complex I function.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone H2AQ104 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K37 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K56 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3R17 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3R2 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3R26 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H3R8 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H4K12 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone H4R3 methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables histone arginine N-methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables methyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-arginine omega-N symmetric methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-arginine omega-N symmetric methyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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
involved_in peptidyl-arginine methylation, to symmetrical-dimethyl arginine	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein arginine methyltransferase NDUFAF7, mitochondrial

Names: NADH dehydrogenase (ubiquinone) complex I, assembly factor 7; NADH dehydrogenase [ubiquinone] complex I, assembly factor 7; mitochondrial dysfunction protein A homolog; protein midA homolog, mitochondrial

NP_001077415.1

EC 2.1.1.320

NP_001336953.1

EC 2.1.1.320

NP_001336954.1

EC 2.1.1.320

NP_001336956.1

EC 2.1.1.320

NP_653337.1

EC 2.1.1.320

XP_005264467.1

EC 2.1.1.320

XP_024308745.1

EC 2.1.1.320

XP_054198810.1

EC 2.1.1.320

XP_054198811.1

EC 2.1.1.320

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_053078.1 RefSeqGene

Range

5028..22530

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001083946.2 → NP_001077415.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform 3

See identical proteins and their annotated locations for NP_001077415.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region and lacks two alternate in-frame exons, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.

Source sequence(s)

BM172474, BX538031

Consensus CDS

CCDS42673.1

UniProtKB/TrEMBL

B4DXV9

Related

ENSP00000337431.6, ENST00000336237.10

Conserved Domains (2) summary

COG1565
Location:51 → 309

MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]

pfam02636
Location:73 → 256

Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
NM_001350024.2 → NP_001336953.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) encodes isoform 4.

Source sequence(s)

AC007390

UniProtKB/TrEMBL

B4DXV9

Conserved Domains (1) summary

pfam02636
Location:100 → 344

Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
NM_001350025.2 → NP_001336954.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) encodes isoform 5.

Source sequence(s)

AC007390

UniProtKB/TrEMBL

B4DXV9

Conserved Domains (1) summary

pfam02636
Location:73 → 317

Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
NM_001350027.2 → NP_001336956.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) encodes isoform 6.

Source sequence(s)

AC007390, AK299015

UniProtKB/TrEMBL

B4DQY3, B4DXV9

Conserved Domains (1) summary

cl17173
Location:51 → 336

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
NM_144736.5 → NP_653337.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_653337.1

Status: REVIEWED

Description

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

Source sequence(s)

BC004548, BM172474, BX538031

Consensus CDS

CCDS1788.1

UniProtKB/Swiss-Prot

Q7L592, Q7Z399, Q9P1G3

UniProtKB/TrEMBL

B4DXV9

Related

ENSP00000002125.4, ENST00000002125.9

Conserved Domains (2) summary

COG1565
Location:51 → 407

MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]

pfam02636
Location:100 → 354

Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase

RNA

NR_146401.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146402.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146403.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390

Related

ENST00000474154.5
NR_146404.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146405.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146406.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146407.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146408.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146409.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390
NR_146410.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC007390

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_000002.12 Reference GRCh38.p14 Primary Assembly

Range

37231658..37271365

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005264410.3 → XP_005264467.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

UniProtKB/TrEMBL

B4DXV9

Conserved Domains (2) summary

COG1565
Location:9 → 365

MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]

pfam02636
Location:58 → 312

Methyltransf_28; Putative S-adenosyl-L-methionine-dependent methyltransferase
XM_024452977.2 → XP_024308745.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform X2

Conserved Domains (1) summary

COG1565
Location:9 → 294

MidA; SAM-dependent methyltransferase, MidA family [General function prediction only]

RNA

XR_007077548.1 RNA Sequence
XR_007077549.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

37238699..37278374

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054342835.1 → XP_054198810.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform X1

UniProtKB/TrEMBL

B4DXV9
XM_054342836.1 → XP_054198811.1 protein arginine methyltransferase NDUFAF7, mitochondrial isoform X2

RNA

XR_008486444.1 RNA Sequence
XR_008486445.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_018607.5: Suppressed sequence

Description

NM_018607.5: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.