Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80224
Gene name Gene Name - the full gene name approved by the HGNC.
NUBP iron-sulfur cluster assembly factor, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NUBPL
Synonyms (NCBI Gene) Gene synonyms aliases
C14orf127, IND1, MC1DN21, huInd1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane.
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61752327 T>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, missense variant
rs118161496 T>C Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic Intron variant, genic downstream transcript variant
rs201430951 T>C Uncertain-significance, pathogenic, likely-pathogenic Synonymous variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs397515440 G>T Likely-pathogenic, pathogenic Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs552722349 A>C,G Pathogenic Intron variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030602 hsa-miR-24-3p Microarray 19748357
MIRT030975 hsa-miR-21-5p Microarray 18591254
MIRT675478 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT675477 hsa-miR-3155a HITS-CLIP 23824327
MIRT675476 hsa-miR-3155b HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613621 20278 ENSG00000151413
Protein
UniProt ID Q8TB37
Protein name Iron-sulfur cluster transfer protein NUBPL (IND1 homolog) (Nucleotide-binding protein-like) (huInd1)
Protein function Iron-sulfur cluster transfer protein involved in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:19752196). May deliver one or more Fe-S clusters to complex I subunits (PubMed:19752196). {ECO:0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10609 ParA 65 311 NUBPL iron-transfer P-loop NTPase Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in liver and kidney. expressed at significant levels in small intestine and brain (at protein level). {ECO:0000269|PubMed:19752196}.
Sequence
Sequence length 319
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Complex I biogenesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 21, mitochondrial complex i deficiency, Mitochondrial complex I deficiency, nuclear type 1 rs552722349, rs201430951, rs863224123, rs1555338209, rs567437692, rs767543623, rs879255565, rs751631278 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Otitis media Otitis media N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cerebellar Ataxia Associate 30897263
Cerebellar Diseases Associate 30897263
Colorectal Neoplasms Stimulate 28346728
Dystonia Associate 30897263
Dystonic Disorders Associate 30897263
Leukoencephalopathies Associate 23553477, 31917109
Lymphatic Metastasis Stimulate 28346728
Mitochondrial complex I deficiency Associate 20818383, 23553477, 23828044
Mitochondrial Diseases Associate 23553477, 23828044
Mitochondrial encephalopathy Associate 23828044