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    NDUFB1 NADH:ubiquinone oxidoreductase subunit B1 [ Homo sapiens (human) ]

    Gene ID: 4707, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NDUFB1provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B1provided by HGNC
    Primary source
    HGNC:HGNC:7695
    See related
    Ensembl:ENSG00000183648 MIM:603837; AllianceGenome:HGNC:7695
    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
    MNLL; CI-MNLL; CI-SGDH
    Summary
    Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nuclear speck. Part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 82.0), colon (RPKM 69.9) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See NDUFB1 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92116123..92121706, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86345661..86351545, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92582467..92588050, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene thyroid hormone receptor interactor 11 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92506403-92507190 Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene prothymosin alpha pseudogene 7 Neighboring gene MPRA-validated peak2236 silencer Neighboring gene ataxin 3 repeat instability region Neighboring gene ataxin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6031 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92566141-92566677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92572215-92573149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:92574354-92575164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92586481-92587470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8927 Neighboring gene cleavage and polyadenylation specific factor 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:92624044-92624245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92673090-92673696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92673697-92674303 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:92719434-92719934 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:92719935-92720435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8928 Neighboring gene RNA, U6 small nuclear 366, pseudogene

    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
    • 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. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. Ton C, et al. Biochem Biophys Res Commun, 1997 Dec 18. PMID 9425316
    2. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. Emahazion T, et al. Cytogenet Cell Genet, 1998. PMID 9763677
    3. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. Loeffen JL, et al. Biochem Biophys Res Commun, 1998 Dec 18. PMID 9878551
    4. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. Mao M, et al. Proc Natl Acad Sci U S A, 1998 Jul 7. PMID 9653160, Free PMC Article
    5. Accessory subunits are integral for assembly and function of human mitochondrial complex I. Stroud DA, et al. Nature, 2016 Oct 6. PMID 27626371

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1 (NDUFB1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    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 NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1
    Names
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa
    NADH-ubiquinone oxidoreductase MNLL subunit
    complex I MNLL subunit
    complex I-MNLL

    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_004545.4 → NP_004536.3  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1

      Status: VALIDATED

      Source sequence(s)
      BM052981, BX476462
      Consensus CDS
      CCDS9901.2
      UniProtKB/Swiss-Prot
      A0AV68, O75438
      Related
      ENSP00000475170.1, ENST00000605997.6
      Conserved Domains (1) summary
      pfam08040
      Location:1 → 58
      NADH_oxidored; MNLL subunit

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      92116123..92121706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431421.1 → XP_047287377.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      A0AV68, O75438
      Related
      ENSP00000450776.1, ENST00000555441.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      86345661..86351545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75438.1 GenPept UniProtKB/Swiss-Prot:O75438

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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