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

Gene ID: 4706, updated on 5-Jul-2020

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
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
Expression
Ubiquitous expression in heart (RPKM 68.8), colon (RPKM 46.1) and 25 other tissues See more
Orthologs

Genomic context

See NDUFAB1 in Genome Data Viewer
Location:
16p12.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (23581012..23596329, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (23592335..23607639, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene glutamyl-tRNA synthetase 2, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 1793 Neighboring gene ubiquitin family domain containing 1 Neighboring gene partner and localizer of BRCA2 Neighboring gene dynactin subunit 5

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?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC65095

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
acyl binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acyl carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acyl carrier activity NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
fatty acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
colocalizes_with mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial membrane NAS
Non-traceable Author Statement
more info
PubMed 
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 
mitochondrial respiratory chain complex I ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_005003.3NP_004994.1  acyl carrier protein, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004994.1

    Status: VALIDATED

    Source sequence(s)
    AF087660, BC058920, BI603093
    Consensus CDS
    CCDS10614.1
    UniProtKB/Swiss-Prot
    O14561
    Related
    ENSP00000007516.2, ENST00000007516.8
    Conserved Domains (1) summary
    cl09936
    Location:66152
    PP-binding; Phosphopantetheine attachment site

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    23581012..23596329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545856.2XP_011544158.2  acyl carrier protein, mitochondrial isoform X1

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