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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 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)
Chlorocebus sabaeus (African green monkey) : SBF1 (SET binding factor 1)
Heterocephalus glaber (naked mole-rat) : 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
GRCh38.p13 Ensembl2250,445,000 - 50,475,035 (-)EnsemblGRCh38hg38GRCh38
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

RNA-SEQ 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

RGD Object Information
RGD ID: 1316075
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-06-18
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.