NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51103
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase complex assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFAF1
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-65, CGI65, CIA30, MC1DN11
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC1DN11
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the transloca
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs150539399 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs376344575 C>A,G,T Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs387906956 T>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs387906957 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs387906958 G>A Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT028594 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17344420, 20816094, 32296183
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 16218961
GO:0005743 Component Mitochondrial inner membrane TAS
GO:0005747 Component Mitochondrial respiratory chain complex I NAS 11935339
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606934 18828 ENSG00000137806
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y375
Protein name Complex I intermediate-associated protein 30, mitochondrial (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 1)
Protein function As part of the MCIA complex, involved in the assembly of the mitochondrial complex I.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08547 CIA30 125 → 298 Complex I intermediate-associated protein 30 (CIA30) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11935339}.
Sequence 
MALVHKLLRGTYFLRKFSKPTSALYPFLGIRFAEYSSSLQKPVASPGKASSQRKTEGDLQ
GDHQKEVALDITSSEEKPDVSFDKAIRDEAIYHFRLLKDEIVDHWRGPEGHPLHEVLLEQ
AKVVWQFRGKEDLDKWTVTSDKTIGGRSEVFLKMGKNNQSALLYGTLSSEAPQDGESTRS
GYCAMISRIPRGAFERKMSYDWSQFNTLYLRVRGDGRPWMVNIKEDTDFFQRTNQMYSYF
MFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHELPLDKISSIGFTLADKVDGPFFLEIDF
IGVFTDPAHTEEFAYENSPELNPRLFK
Sequence length 327
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Thermogenesis   Complex I biogenesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (14)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Epileptic encephalopathy Encephalopathies rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 1 deficiency, nuclear type 11, mitochondrial complex I deficiency GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 33863396
Mitochondrial complex I deficiency Associate 16218961
Mitochondrial Diseases Associate 25714130
Ovarian Neoplasms Associate 32149080
Pancreatic Neoplasms Associate 25714130
Respiration Disorders Inhibit 25714130
Shock Septic Associate 33863396