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Ndufab1 Gene Detail
Summary
  • Symbol
    Ndufab1
  • Name
    NADH:ubiquinone oxidoreductase subunit AB1
  • Synonyms
    2210401F17Rik, 2310039H15Rik, 2610003B19Rik, 8kDa, 9130423F15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917566
    NCBI Gene: 70316
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:121686038-121701071 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 65.38 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    434 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917566
 protein coding gene Chr7:121684626-121701109 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032950
 protein coding gene Chr7:126152177-126168964 (-)
A/J MGP_AJ_G0032933
 protein coding gene Chr7:122883037-122900279 (-)
AKR/J MGP_AKRJ_G0032865
 protein coding gene Chr7:126009382-126024327 (-)
BALB/cJ MGP_BALBcJ_G0032938
 protein coding gene Chr7:122576222-122589768 (-)
C3H/HeJ MGP_C3HHeJ_G0032648
 protein coding gene Chr7:125935246-125948618 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033444
 protein coding gene Chr7:131134286-131148040 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030416
 protein coding gene Chr7:124205665-124221110 (-)
CAST/EiJ MGP_CASTEiJ_G0031976
 protein coding gene Chr7:117708560-117725237 (-)
CBA/J MGP_CBAJ_G0032621
 protein coding gene Chr7:135532836-135548833 (-)
DBA/2J MGP_DBA2J_G0032773
 protein coding gene Chr7:120890323-120903970 (-)
FVB/NJ MGP_FVBNJ_G0032726
 protein coding gene Chr7:120736985-120753545 (-)
LP/J MGP_LPJ_G0032867
 protein coding gene Chr7:127598897-127612703 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032758
 protein coding gene Chr7:136910793-136924933 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033464
 protein coding gene Chr7:125015542-125034176 (-)
PWK/PhJ MGP_PWKPhJ_G0031684
 protein coding gene Chr7:113819241-113833647 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031530
 protein coding gene Chr7:111784184-111799944 (-)
WSB/EiJ MGP_WSBEiJ_G0032089
 protein coding gene Chr7:125921761-125936556 (-)



Homology
more
  • Human Ortholog
    NDUFAB1, NADH:ubiquinone oxidoreductase subunit AB1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NDUFAB1, NADH:ubiquinone oxidoreductase subunit AB1
  • Synonyms
    ACP, ACP1, FASN2A, SDAP
  • Links
    NCBI Gene ID: 4706
    neXtProt AC: NX_O14561
    UniProt: O14561

  • Chr Location
    16p12.2; chr16:23581014-23596316 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 2 alleles in 2 genetic backgrounds
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Skeletal muscle-specific knock-out leads to smaller body size, hypoglycemia, hypoinsulinemia, reduced muscle and liver glycogen levels, disrupted mitochondrial cristae and premature death within five days after birth. Overexpression increases glucose metabolism and protects against diet-induced obesity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    864
  • Tissues
    106
  • cDNA Data
    15
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 70316 NCBI Gene Model | MGI Sequence Detail 15034 C57BL/6J ±  kb
    transcript NM_028177 RefSeq | MGI Sequence Detail 2029 C57BL/6  
    polypeptide Q9CR21 UniProt | EBI | MGI Sequence Detail 156 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 16
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:1913636, MGI:1918864, MGI:1919520
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 4
      Gene Ontology 12
      Phenotypes 5
    • Earliest
      J:65653 Wertz K, et al., Large-scale screen for genes involved in gonad development. Mech Dev. 2000 Nov;98(1-2):51-70
    • Latest
      J:355679 Vercellino I, et al., SCAF1 drives the compositional diversity of mammalian respirasomes. Nat Struct Mol Biol. 2024 Jul;31(7):1061-1071
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory