SBF1 (SET binding factor 1)

2003-02-01 Affiliation

Identity

HGNC

SBF1

LOCATION

22q13.33

LOCUSID

6305

ALIAS

CMT4B3,DENND7A,MTMR5

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: 6305
MIM: 603560
HGNC: 10542
Ensembl: ENSG00000100241

Variants:

dbSNP: 6305
ClinVar: 6305
TCGA: ENSG00000100241
COSMIC: SBF1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100241	ENST00000348911	O95248
ENSG00000100241	ENST00000380817	O95248
ENSG00000100241	ENST00000418590	H0Y5W8

Expression (GTEx)

100

150

200

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
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
RAB GEFs exchange GTP for GDP on RABs	REACTOME	R-HSA-8876198

References

Pubmed ID	Year	Title	Citations
12668758	2003	Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.	47
9736772	1998	Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.	37
20198315	2010	Association of genetic variants with hemorrhagic stroke in Japanese individuals.	11
23749797	2013	SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.	11
19851296	2010	Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.	3
19369647	2009	Identification of potentially damaging amino acid substitutions leading to human male infertility.	2
28005197	2017	SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.	2
24817947	2014	DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.	1
30039846	2018	Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.	1

Citation

Dessen P

SBF1 (SET binding factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42208/sbf1-(set-binding-factor-1)