Cell atlas - SBF1 - The Human Protein Atlas

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SBF1

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Endoplasmic reticulum
	Vesicles

Human cell
	Endoplasmic Reticulum
	Vesicles

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GENERAL INFORMATION
Gene name	SBF1
Gene description	SET binding factor 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the endoplasmic reticulum. In addition localized to vesicles.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Endoplasmic reticulum (approved)
Additional location	In addition localized to the Vesicles (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA065538
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the endoplasmic reticulum. In addition localized to vesicles.

Main location

Endoplasmic reticulum (approved)

Additional location

Vesicles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA065538	HEK 293	Endoplasmic reticulum
	HPA065538	HeLa	Vesicles
	HPA065538	U-2 OS	No staining

GENE INFORMATION
Gene name	SBF1 (HGNC Symbol)
Synonyms	DENND7A, MTMR5
Description	SET binding factor 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
Chromosome	22
Cytoband	q13.33
Chromosome location (bp)	50445000 - 50475024
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000100241 (version 83.38)
Entrez gene	6305
UniProt	O95248 (UniProt - Evidence at protein level)
neXtProt	NX_O95248
Antibodypedia	SBF1 antibodies

PROTEIN BROWSER

SBF1-001	SBF1-003	SBF1-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SBF1-001 ENSP00000370196 ENST00000380817	O95248 [Direct mapping] Myotubularin-related protein 5 A0A024R4Z9 [Target identity:100%; Query identity:100%] SET binding factor 1, isoform CRA_a Show all	MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005634 [nucleus] GO:0006470 [protein dephosphorylation] GO:0007283 [spermatogenesis] GO:0008138 [protein tyrosine/serine/threonine phosphatase activity] GO:0016021 [integral component of membrane] GO:0017112 [Rab guanyl-nucleotide exchange factor activity] GO:0019208 [phosphatase regulator activity] GO:0043547 [positive regulation of GTPase activity] Show all	1893 aa 211 kDa	No	0
SBF1-003 ENSP00000252027 ENST00000348911	G5E933 [Direct mapping] Myotubularin-related protein 5; SET binding factor 1, isoform CRA_c Show all	MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0019208 [phosphatase regulator activity] GO:0043087 [regulation of GTPase activity] Show all	1868 aa 208.4 kDa	No	0
SBF1-005 ENSP00000401538 ENST00000418590	H0Y5W8 [Direct mapping] Myotubularin-related protein 5 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0019208 [phosphatase regulator activity] GO:0043087 [regulation of GTPase activity] Show all	415 aa 47.7 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.