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

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; AllianceGenome:HGNC:20372
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: mouse all
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Genomic context

Location:: Xp11.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (47142216..47145491, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (46551936..46555216, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (47001615..47004890, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
Title: NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Title: A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Our findings together with a review of the thirteen previously described patients demonstrate a wide spectrum of clinical features associated with NDUFB11-related complex I deficiency. However, histiocytoid cardiomyopathy and/or congenital sideroblastic anemia could be indicative for mutation in the NDUFB11 gene, while the clinical manifestation of the same mutation can be highly variable
Title: Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic congenital sideroblastic anemia.
Title: A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.
Title: A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
The novel NDUFB11 mutation may cause a complex 1 deficiency in synergy with additional unknown mtDNA variants.
Title: Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
Title: Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
the post-transcriptional regulation of the Ndufb11 gene can be involved in the programmed cell death process
Title: The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells.
NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian Leber hereditary optic neuropathy patients.
Title: The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.

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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

Associated conditions

Description	Tests
Linear skin defects with multiple congenital anomalies 1 MedGen: C0796070 OMIM: 309801 GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	Compare labs
Linear skin defects with multiple congenital anomalies 3 MedGen: C4225421 OMIM: 300952 GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	Compare labs
Mitochondrial complex 1 deficiency, nuclear type 30 MedGen: C4746985 OMIM: 301021 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	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

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
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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.

Genomic

NG_052579.1 RefSeqGene

Range

5509..7995

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135998.3 → NP_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

Q5JRR3, Q5JRR4, Q6IAB6, Q8WZ96, Q9BXX9, Q9NX14

UniProtKB/TrEMBL

Q7Z4X2

Related

ENSP00000367042.3, ENST00000377811.4

Conserved Domains (1) summary

pfam10183
Location:22 → 141

ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)
NM_019056.7 → NP_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/TrEMBL

Q7Z4X2

Related

ENSP00000509334.1, ENST00000687244.1

Conserved Domains (1) summary

pfam10183
Location:30 → 143

ESSS; ESSS subunit of NADH:ubiquinone oxidoreductase (complex I)