U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 137682, updated on 15-Jul-2024

    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; AllianceGenome:HGNC:28625
    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
    FRTS5; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDUFAF6 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94895799..95118496)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (96020781..96243737)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95908027..96130724)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene integrator complex subunit 8 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95906241-95906802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19374 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27636 Neighboring gene cyclin E2 Neighboring gene tumor protein p53 inducible nuclear protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr8:95960947-95961575 and GRCh37_chr8:95961576-95962205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27639 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:95974156-95974312 Neighboring gene NANOG hESC enhancer GRCh37_chr8:95987500-95988063 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:96036276-96037122 Neighboring gene Sharpr-MPRA regulatory region 2014 Neighboring gene uncharacterized LOC124901981 Neighboring gene RNA, U6 small nuclear 1209, pseudogene Neighboring gene uncharacterized LOC124901980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19379 Neighboring gene MIR3150B host gene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27640 Neighboring gene microRNA 3150b Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27641 Neighboring gene microRNA 3150a Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19383 Neighboring gene uncharacterized LOC124901982 Neighboring gene pleckstrin homology and FYVE domain containing 2 Neighboring gene CRISPRi-validated cis-regulatory element chr8.2347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27649 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27650

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Fanconi renotubular syndrome 5
    MedGen: C5394473 OMIM: 618913 GeneReviews: Not available
    Compare labs
    Mitochondrial complex 1 deficiency, nuclear type 17
    MedGen: C4748786 OMIM: 618239 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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)

    NEW Try the new Transcript table

    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
      134719..168440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001330582.2NP_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/TrEMBL
      A0A075B6P0
      Conserved Domains (1) summary
      pfam00494
      Location:8219
      SQS_PSY; Squalene/phytoene synthase
    2. NM_001354514.2NP_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
      UniProtKB/TrEMBL
      A0A075B6P0
      Related
      ENSP00000513278.1, ENST00000697364.1
      Conserved Domains (1) summary
      pfam00494
      Location:8219
      SQS_PSY; Squalene/phytoene synthase
    3. NM_001354515.2NP_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
      UniProtKB/TrEMBL
      A0A075B6P0
      Related
      ENSP00000379417.1, ENST00000396111.6
      Conserved Domains (1) summary
      pfam00494
      Location:8219
      SQS_PSY; Squalene/phytoene synthase
    4. NM_001354516.2NP_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_001354517.2NP_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_001354518.2NP_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_001354519.2NP_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_001354521.2NP_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_001354522.2NP_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_001354524.2NP_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_001354525.2NP_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_001354527.2NP_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_001354528.2NP_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_001354529.2NP_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_001354530.2NP_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_001354531.2NP_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_001354532.2NP_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_001354533.2NP_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_001354534.2NP_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
      A8MT28, A8MWF0, B4DQ45, Q330K2, Q8N6U6
      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
      Related
      ENST00000697356.1
    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
      Related
      ENST00000697359.1
    7. NR_148909.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC087752
    8. NR_148910.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189
    9. NR_148911.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189
    10. NR_148912.2 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_148915.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC068189, AK301414

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94895799..95118496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      96020781..96243737
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)