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NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [ Homo sapiens (human) ]

Gene ID: 137682, updated on 14-Jul-2019

Summary

Official Symbol
NDUFAF6provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase complex assembly factor 6provided by HGNC
Primary source
HGNC:HGNC:28625
See related
Ensembl:ENSG00000156170 MIM:612392
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
C8orf38; MC1DN17
Summary
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Expression
Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues See more
Orthologs

Genomic context

See NDUFAF6 in Genome Data Viewer
Location:
8q22.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (94895768..95118496)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (96037209..96115685)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dpy-19 like 4 Neighboring gene integrator complex subunit 8 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene cyclin E2 Neighboring gene tumor protein p53 inducible nuclear protein 1 Neighboring gene Sharpr-MPRA regulatory region 2014 Neighboring gene RNA, U6 small nuclear 1209, pseudogene Neighboring gene MIR3150B host gene Neighboring gene microRNA 3150b Neighboring gene microRNA 3150a Neighboring gene pleckstrin homology and FYVE domain containing 2 Neighboring gene long intergenic non-protein coding RNA 1298

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?

Phenotypes

Associated conditions

Description Tests
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MedGen: C4748786 OMIM: 618239 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC40214

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Names
UPF0551 protein C8orf38, mitochondrial
putative phytoene synthase

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_016647.2 RefSeqGene

    Range
    134716..168446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330582.1NP_001317511.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 3 and 4, encodes isoform 2.
    Source sequence(s)
    AA625387, AC068189, BX282282, CN344829, HY013350
    Consensus CDS
    CCDS83307.1
    UniProtKB/Swiss-Prot
    Q330K2
    UniProtKB/TrEMBL
    A0A075B6P0
    Conserved Domains (1) summary
    pfam00494
    Location:8219
    SQS_PSY; Squalene/phytoene synthase
  2. NM_001354514.1NP_001341443.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 2 and 4, encodes isoform 2.
    Source sequence(s)
    AC068189, AC087752
    Consensus CDS
    CCDS83307.1
    Related
    ENSP00000379419.1, ENST00000396113.5
    Conserved Domains (1) summary
    pfam00494
    Location:8219
    SQS_PSY; Squalene/phytoene synthase
  3. NM_001354515.1NP_001341444.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 2 and 3, encodes isoform 2.
    Source sequence(s)
    AC068189, AC087752
    Consensus CDS
    CCDS83307.1
    Related
    ENSP00000379417.1, ENST00000396111.6
    Conserved Domains (1) summary
    pfam00494
    Location:8219
    SQS_PSY; Squalene/phytoene synthase
  4. NM_001354516.1NP_001341445.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC068189, AC087752
    Conserved Domains (1) summary
    pfam00494
    Location:14259
    SQS_PSY; Squalene/phytoene synthase
  5. NM_001354517.1NP_001341446.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variants 7 and 8, encodes isoform 4.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    pfam00494
    Location:1200
    SQS_PSY; Squalene/phytoene synthase
  6. NM_001354518.1NP_001341447.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 6 and 8, encodes isoform 4.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    pfam00494
    Location:1200
    SQS_PSY; Squalene/phytoene synthase
  7. NM_001354519.1NP_001341448.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 6 and 7, encodes isoform 4.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    pfam00494
    Location:1200
    SQS_PSY; Squalene/phytoene synthase
  8. NM_001354521.1NP_001341450.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:8200
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  9. NM_001354522.1NP_001341451.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 11-19, encodes isoform 6.
    Source sequence(s)
    AC068189, AC087752
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  10. NM_001354524.1NP_001341453.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 10 and 12-19, encodes isoform 6.
    Source sequence(s)
    AC068189, AC087752
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  11. NM_001354525.1NP_001341454.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 10, 11, and 13-19, encodes isoform 6.
    Source sequence(s)
    AC068189, AC087752
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  12. NM_001354527.1NP_001341456.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 10-12 and 14-19, encodes isoform 6.
    Source sequence(s)
    AC068189, BC028166
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  13. NM_001354528.1NP_001341457.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 10-13 and 15-19, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  14. NM_001354529.1NP_001341458.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 10-14 and 16-19, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  15. NM_001354530.1NP_001341459.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 10-15 and 17-19, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  16. NM_001354531.1NP_001341460.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 10-16, 18, and 19, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  17. NM_001354532.1NP_001341461.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variants 10-17 and 19, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  18. NM_001354533.1NP_001341462.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 10-18, encodes isoform 6.
    Source sequence(s)
    AC068189
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  19. NM_001354534.1NP_001341463.1  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC068189, AC087752
    Conserved Domains (1) summary
    cl00210
    Location:1159
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
  20. NM_152416.4NP_689629.2  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 1 precursor

    See identical proteins and their annotated locations for NP_689629.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA489642, AK298631, BF030925, BM755491, DA897677
    Consensus CDS
    CCDS6266.2
    UniProtKB/Swiss-Prot
    Q330K2
    Related
    ENSP00000379430.4, ENST00000396124.9
    Conserved Domains (1) summary
    pfam00494
    Location:65311
    SQS_PSY; Squalene/phytoene synthase

RNA

  1. NR_148903.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  2. NR_148904.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  3. NR_148905.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  4. NR_148906.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  5. NR_148907.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  6. NR_148908.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  7. NR_148909.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC087752
  8. NR_148910.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068189
  9. NR_148911.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068189
  10. NR_148912.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068189
  11. NR_148913.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018801, AC068189
  12. NR_148914.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC018801, AC068189
  13. NR_148915.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068189, AK301414

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    94895768..95118496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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