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Gene: SBF1 (SET binding factor 1) Homo sapiens
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Symbol: SBF1
Name: SET binding factor 1
Description: Exhibits Rab guanyl-nucleotide exchange factor activity. Predicted to be involved in phosphatidylinositol biosynthetic process and protein dephosphorylation. Localizes to the cytoplasm and nuclear body. Implicated in Charcot-Marie-Tooth disease type 4B3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT4B3; DENN/MADD domain containing 7A; DENND7A; DKFZp761D0422; inactive phosphatidylinositol 3-phosphatase 5; MGC99700; MTMR5; myotubularin related 5; myotubularin-related protein 5; SET-binding factor 1
Orthologs:
Mus musculus (house mouse) : Sbf1 (SET binding factor 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Sbf1 (SET binding factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Sbf1 (SET binding factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SBF1 (SET binding factor 1)
Canis lupus familiaris (dog) : SBF1 (SET binding factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Sbf1 (SET binding factor 1)
Sus scrofa (pig) : SBF1 (SET binding factor 1)
more info ...
Related Pseudogenes: SBF1P1   SBF1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,445,000 - 50,475,035 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372250,883,429 - 50,913,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,232,101 - 49,260,320 (-)NCBINCBI36hg18NCBI36
Build 342249,175,379 - 49,203,598NCBI
Celera2234,759,447 - 34,789,477 (-)NCBI
Cytogenetic Map22q13.33NCBI
HuRef2233,773,881 - 33,803,909 (-)NCBIHuRef
CHM1_12250,842,172 - 50,872,238 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on SBF1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1316075
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.