NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79133
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase complex assembly factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFAF5
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf7, MC1DN16, bA526K24.2, dJ842G6.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC1DN16
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. Th
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs118203929 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs150613320 G>C Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs150955045 T>C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, non coding transcript variant, synonymous variant
rs267606689 A>C Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs746405080 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 27226634, 27499296, 28514442
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 27226634
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612360 15899 ENSG00000101247
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q5TEU4
Protein name Arginine-hydroxylase NDUFAF5, mitochondrial (EC 1.-.-.-) (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5) (Putative methyltransferase NDUFAF5) (EC 2.1.1.-)
Protein function Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (PubMed:18940309, PubMed:27226634). May also have
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08241 Methyltransf_11 94 → 186 Methyltransferase domain Domain
Sequence 
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAA
RQPEPTKFDYLKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADI
AENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKP
DGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPAT
YQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ
Sequence length 345
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs 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 Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (18)
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
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)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Mitochondrial Complex Deficiency mitochondrial complex 1 deficiency, nuclear type 16, mitochondrial complex I deficiency GenCC
Leigh Syndrome Leigh syndrome GenCC
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Callosities Associate 37718619
Congenital Abnormalities Associate 37718619
COVID 19 Associate 33173052
Cysts Associate 37718619
Death Associate 34964562
Dyspnea Associate 29581464
Fetal Growth Retardation Associate 37718619
Hydrops Fetalis Associate 37718619
Hypersensitivity Delayed Associate 29581464
Hyponatremia Associate 30473481