NUBPL (nucleotide binding protein like)

2014-11-01 Affiliation

Identity

HGNC

NUBPL

LOCATION

14q12

LOCUSID

80224

ALIAS

C14orf127,IND1,MC1DN21,huInd1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 80224
MIM: 613621
HGNC: 20278
Ensembl: ENSG00000151413

Variants:

dbSNP: 80224
ClinVar: 80224
TCGA: ENSG00000151413
COSMIC: NUBPL

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000151413	ENST00000281081	Q8TB37
ENSG00000151413	ENST00000281081	X5D2R5
ENSG00000151413	ENST00000547839	Q8TB37
ENSG00000151413	ENST00000549838	H0YHR7
ENSG00000151413	ENST00000550005	F8VP02
ENSG00000151413	ENST00000550649	F8W0A2
ENSG00000151413	ENST00000551314	F8W061
ENSG00000151413	ENST00000552489	F8VZR8

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105
Complex I biogenesis	REACTOME	R-HSA-6799198

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA161199368	iloperidone	Chemical	ClinicalAnnotation	associated		PD	18521091
PA447300	Acquired Long QT Syndrome (aLQTS)	Disease	ClinicalAnnotation	associated		PD	18521091

References

Pubmed ID	Year	Title	Citations
36868263	2023	Expanding the Spectrum of NUBPL-Related Leukodystrophy.	0
36868263	2023	Expanding the Spectrum of NUBPL-Related Leukodystrophy.	0
32518176	2021	NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.	7
32518176	2021	NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.	7
31787496	2020	Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.	5
31787496	2020	Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.	5
30897263	2019	Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.	4
30897263	2019	Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.	4
29982452	2018	Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.	4
29982452	2018	Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.	4
28346728	2017	NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition.	9
28346728	2017	NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition.	9
25240856	2014	Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein.	1
25240856	2014	Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein.	1
23553477	2013	NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.	31

Citation

Dessen P

NUBPL (nucleotide binding protein like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71011/nubpl-(nucleotide-binding-protein-like)