NDUFB1 - NADH:ubiquinone oxidoreductase subunit B1 Gene

Also Known as MNLL; CI-MNLL; CI-SGDH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4707

About NDUFB1

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,116,123-92,121,706 (from NCBI)

This gene has 7 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in kidney (RPKM 82.0), colon (RPKM 69.9) and 25 other tissues.

Summary

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nuclear speck. Part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]

NDUFB1 Products (1)

mRNA Protein Name
NM_004545.4 NP_004536.3 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1
Biological Process GO Annotation Evidence References Source
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: Inferred from mutant phenotype
27626371 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NDUFB1 Protein Structure

NADH_oxidored

NADH_oxidored: MNLL subunit (1 - 58)

  • 0
  • 58 a.a.
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1

  • NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa

NDUFB1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82759 NDUFB1 Antibody (YA2504) WB, IHC-P Human
HY-P82759A NDUFB1 Antibody (YA2504)(PBS only) WB, IHC-P Human

Related Diseases

Diseases Alias
Bacterial Gastritis
Mitochondrial Dna Depletion Syndrome 9
  • MTDPS9

  • Fatal Infantile Lactic Acidosis

  • Lactic Acidosis, Fatal Infantile, Formerly

  • Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

  • Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

  • Mitochondrial Dna Depletion Syndrome, Type 9

  • Lactic Acidosis, Fatal Infantile

Leber Optic Atrophy And Dystonia
  • LDYT

  • Marsden Syndrome

  • Leber Hereditary Optic Neuropathy With Dystonia

  • Leber Hereditary Optic Neuropathy And Dystonia

  • Familial Dystonia With Visual Failure And Striatal Lucencies

  • Dystonia, Familial, With Visual Failure And Striatal Lucencies

  • Leber Optic Atrophy With Dystonia

  • Dystonia Familial, With Visual Failure And Striatal Lucencies

  • Lhon And Dystonia

  • Leber'S Hereditary Optic Neuropathy With Dystonia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NDUFB1 RGD RGD:6487218
Macaca mulatta NDUFB1 VGNC VGNC:106440
Mus musculus NDUFB1 MGD MGI:3780865
Others NDUFB1 NCBI