SBF1 (SET binding factor 1)

2003-02-01  

Identity

HGNC
SBF1
LOCATION
22q13.33
LOCUSID
6305
ALIAS
CMT4B3,DENND7A,MTMR5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6305
MIM: 603560
HGNC: 10542
Ensembl: ENSG00000100241

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100241ENST00000348911O95248
ENSG00000100241ENST00000380817O95248
ENSG00000100241ENST00000418590H0Y5W8

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198

References

Pubmed IDYearTitleCitations
361044802022A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder.2
361044802022A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder.2
324449832020A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.2
324449832020A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.2
300398462018Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.5
300398462018Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.5
280051972017SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.6
280051972017SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement.6
248179472014DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.5
248179472014DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines.5
237497972013SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.23
237497972013SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.23
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7

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)