NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFAB1provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase subunit AB1provided by HGNC
Primary source: HGNC:HGNC:7694
See related: Ensembl:ENSG00000004779 MIM:603836; AllianceGenome:HGNC:7694
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: ACP; ACP1; SDAP; FASN2A
Summary: Enables mitochondrial large ribosomal subunit binding activity. Involved in [2Fe-2S] cluster assembly; mitochondrial respiratory chain complex I assembly; and protein lipoylation. Located in mitochondrion and nucleoplasm. Part of mitochondrial [2Fe-2S] assembly complex; mitochondrial inner membrane; and respiratory chain complex I. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 68.8), colon (RPKM 46.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23581014..23596316, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23856813..23872135, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23592335..23607637, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Substrate Sequestration and Chain Flipping in Human Mitochondrial Acyl Carrier Protein.
Title: Substrate Sequestration and Chain Flipping in Human Mitochondrial Acyl Carrier Protein.
In this work, the structure of the human mitochondrial ACP-ISD11 heterodimer was determined at 2.0 A resolution.
Title: Structure of the Human ACP-ISD11 Heterodimer.
The molecular structure of the human mitochondrial cysteine desulfurase complex consisting of two copies each of NFS1, ISD11, and acyl carrier protein has been described.
Title: Architectural Features of Human Mitochondrial Cysteine Desulfurase Complexes from Crosslinking Mass Spectrometry and Small-Angle X-Ray Scattering.
ACP has a dual role in mammalian mitochondrial function
Title: Down-regulation of mitochondrial acyl carrier protein in mammalian cells compromises protein lipoylation and respiratory complex I and results in cell death.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The p49/STRAP and NDUFAB1 proteins interacted and co-localized with each other in the cell.
Title: Identification of a subunit of NADH-dehydrogenase as a p49/STRAP-binding protein.

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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

EBI GWAS Catalog

Description
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

RH64954 (e-PCR)
- UniSTS:92468

RH93191 (e-PCR)
- UniSTS:92725

SGC33525 (e-PCR)
- UniSTS:53405

G20300 (e-PCR)
- UniSTS:40905

A005L06 (e-PCR)
- UniSTS:40906

SHGC-32823 (e-PCR)
- UniSTS:17364

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl binding	IBA Inferred from Biological aspect of Ancestor more info
enables acyl carrier activity	IBA Inferred from Biological aspect of Ancestor more info
enables acyl carrier activity	NAS Non-traceable Author Statement more info	PubMed
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables fatty acid binding	ISS Inferred from Sequence or Structural Similarity more info
enables mitochondrial large ribosomal subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in [2Fe-2S] cluster assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in iron-sulfur cluster assembly	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 protein lipoylation	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
part_of iron-sulfur cluster assembly complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial [2Fe-2S] assembly complex	IDA Inferred from Direct Assay more info	PubMed
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 mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
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
part_of respiratory chain complex I	ISS Inferred from Sequence or Structural Similarity more info
part_of respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: acyl carrier protein, mitochondrial

Names: CI-SDAP; NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa; NADH-ubiquinone oxidoreductase 9.6 kDa subunit; NADH:ubiquinone oxidoreductase SDAP subunit; complex I SDAP subunit; mitochondrial acyl carrier protein

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.