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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

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