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NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 [ Homo sapiens (human) ]

Gene ID: 54539, updated on 24-Nov-2020

Summary

Official Symbol
NDUFB11provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B11provided by HGNC
Primary source
HGNC:HGNC:20372
See related
Ensembl:ENSG00000147123 MIM:300403
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
ESSS; Np15; P17.3; NP17.3; CI-ESSS; MC1DN30
Summary
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in adrenal (RPKM 29.1), heart (RPKM 25.4) and 25 other tissues See more
Orthologs

Genomic context

See NDUFB11 in Genome Data Viewer
Location:
Xp11.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47142216..47145491, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47001615..47004609, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373193 Neighboring gene uncharacterized LOC107985720 Neighboring gene RNA, U12 small nuclear 2, pseudogene Neighboring gene RNA binding motif protein 10 Neighboring gene ITPK1 pseudogene 1 Neighboring gene ubiquitin like modifier activating enzyme 1 Neighboring gene uncharacterized LOC105373194 Neighboring gene inactivation escape 1

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20494, MGC111182

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NADH-ubiquinone oxidoreductase ESSS subunit
complex I NP17.3 subunit
complex I-ESSS
neuronal protein 17.3

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_052579.1 RefSeqGene

    Range
    5001..7995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135998.3NP_001129470.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001129470.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in_frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter C-terminus compared to isoform 1.
    Source sequence(s)
    AY359056
    Consensus CDS
    CCDS48100.1
    UniProtKB/Swiss-Prot
    Q9NX14
    Related
    ENSP00000367042.3, ENST00000377811.3
    Conserved Domains (1) summary
    pfam10183
    Location:22141
    ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)
  2. NM_019056.7NP_061929.2  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_061929.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF044213, AF251063, AL513366, AY359056
    Consensus CDS
    CCDS14273.1
    UniProtKB/Swiss-Prot
    Q9NX14
    Related
    ENSP00000276062.8, ENST00000276062.8
    Conserved Domains (1) summary
    pfam10183
    Location:30143
    ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    47142216..47145491 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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