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

Gene ID: 284184, updated on 11-Jun-2021

Summary

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
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
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

See NDUFAF8 in Genome Data Viewer
Location:
17q25.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (81239311..81241310)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79213111..79215110)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 131 Neighboring gene uncharacterized LOC105371925 Neighboring gene TEPSIN adaptor related protein complex 4 accessory protein Neighboring gene solute carrier family 38 member 10 Neighboring gene CRISPRi-validated cis-regulatory element chr17.5937

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_001086521.2NP_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_001353402.1NP_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_001353403.1NP_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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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