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NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 [ Homo sapiens (human) ]

Gene ID: 284184, updated on 2-Nov-2024

Summary

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Official Symbol
NDUFAF8provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 8provided by HGNC
Primary source
HGNC:HGNC:33551
See related
Ensembl:ENSG00000224877 MIM:618461; AllianceGenome:HGNC:33551
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MC1DN34; C17orf89
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrial matrix. Implicated in nuclear type mitochondrial complex I deficiency 34. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 16.9), kidney (RPKM 16.4) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFAF8 in Genome Data Viewer
Location:
17q25.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81239311..81241310)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82148434..82150433)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79213111..79215110)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371925 Neighboring gene uncharacterized LOC124904081 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79212179-79212761 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:79212737-79212952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12956 Neighboring gene Sharpr-MPRA regulatory region 11657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12959 Neighboring gene solute carrier family 38 member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79225481-79226148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79228507-79229198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79255689-79256202 Neighboring gene Sharpr-MPRA regulatory region 13761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12961 Neighboring gene uncharacterized LOC124904082

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Alston CL, et al. Am J Hum Genet, 2020 Jan 2. PMID 31866046, Free PMC Article
  2. A two-step mitochondrial import pathway couples the disulfide relay with matrix complex I biogenesis. Peker E, et al. J Cell Biol, 2023 Jul 3. PMID 37159021, Free PMC Article
  3. Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry. Molina H, et al. Proc Natl Acad Sci U S A, 2007 Feb 13. PMID 17287340, Free PMC Article
  4. Gene Essentiality Profiling Reveals Gene Networks and Synthetic Lethal Interactions with Oncogenic Ras. Wang T, et al. Cell, 2017 Feb 23. PMID 28162770, Free PMC Article
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
    Title: Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
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

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 34
MedGen: C5394053 OMIM: 618776 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP 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
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8

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.

mRNA and Protein(s)

  1. NM_001086521.2 → NP_001079990.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 2

    See identical proteins and their annotated locations for NP_001079990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AA534550, AC027601, BC127837
    Consensus CDS
    CCDS45809.1
    UniProtKB/Swiss-Prot
    A1L188
    Related
    ENSP00000400184.2, ENST00000431388.3

  2. NM_001353402.1 → NP_001340331.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC027601

  3. NM_001353403.1 → NP_001340332.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC027601
    Related
    ENST00000573090.1

RNA

  1. NR_148426.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' end compared to variant 1.
    Source sequence(s)
    AC027601
    Related
    ENST00000573173.1

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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    81239311..81241310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    82148434..82150433
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L188.1 GenPept UniProtKB/Swiss-Prot:A1L188

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