Tissue expression of RABGEF1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	RABGEF1
Gene description	RAB guanine nucleotide exchange factor (GEF) 1
Protein class	Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Mixed
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
Gene name	RABGEF1 (HGNC Symbol)
Synonyms	rabex-5, RABEX5
Description	RAB guanine nucleotide exchange factor (GEF) 1 (HGNC Symbol)
Entrez gene summary	RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
Chromosome	7
Cytoband	q11.21
Chromosome location (bp)	66682164 - 66811464
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000154710 (version 83.38)
Entrez gene	27342
UniProt	Q9UJ41 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UJ41
Antibodypedia	RABGEF1 antibodies

PROTEIN BROWSER

RABGEF1-001	RABGEF1-002	RABGEF1-003	RABGEF1-005	RABGEF1-201	RABGEF1-202	RABGEF1-203

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
RABGEF1-001 ENSP00000284957 ENST00000284957	Q9UJ41 [Direct mapping] Rab5 GDP/GTP exchange factor A0A024RDL6 [Target identity:100%; Query identity:100%] RAB guanine nucleotide exchange factor (GEF) 1, isoform CRA_b Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005769 [early endosome] GO:0006612 [protein targeting to membrane] GO:0006897 [endocytosis] GO:0008270 [zinc ion binding] GO:0017112 [Rab guanyl-nucleotide exchange factor activity] GO:0017137 [Rab GTPase binding] GO:0043547 [positive regulation of GTPase activity] GO:0055037 [recycling endosome] Show all	491 aa 56.9 kDa	No	0
RABGEF1-002 ENSP00000415815 ENST00000450873	Q9UJ41 [Direct mapping] Rab5 GDP/GTP exchange factor A0A024RDL6 [Target identity:100%; Query identity:100%] RAB guanine nucleotide exchange factor (GEF) 1, isoform CRA_b Show all	Predicted intracellular proteins Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005769 [early endosome] GO:0006612 [protein targeting to membrane] GO:0006897 [endocytosis] GO:0008270 [zinc ion binding] GO:0017112 [Rab guanyl-nucleotide exchange factor activity] GO:0017137 [Rab GTPase binding] GO:0043547 [positive regulation of GTPase activity] GO:0055037 [recycling endosome] Show all	491 aa 56.9 kDa	No	0
RABGEF1-003 ENSP00000403429 ENST00000439720	E9PFK9 [Direct mapping] Rab5 GDP/GTP exchange factor Show all	Predicted intracellular proteins Show all	GO:0003677 [DNA binding] GO:0008270 [zinc ion binding] Show all	504 aa 58.4 kDa	No	0
RABGEF1-005 ENSP00000415503 ENST00000442563	C9JDA2 [Direct mapping] Rab5 GDP/GTP exchange factor Show all	Predicted intracellular proteins Show all	GO:0003677 [DNA binding] GO:0008270 [zinc ion binding] Show all	45 aa 5.3 kDa	No	0
RABGEF1-201 ENSP00000370208 ENST00000380828	Q9UJ41 [Direct mapping] Rab5 GDP/GTP exchange factor Show all	Predicted intracellular proteins Show all	GO:0001933 [negative regulation of protein phosphorylation] GO:0002686 [negative regulation of leukocyte migration] GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005769 [early endosome] GO:0006612 [protein targeting to membrane] GO:0006897 [endocytosis] GO:0008270 [zinc ion binding] GO:0016567 [protein ubiquitination] GO:0017112 [Rab guanyl-nucleotide exchange factor activity] GO:0017137 [Rab GTPase binding] GO:0031982 [vesicle] GO:0033004 [negative regulation of mast cell activation] GO:0043305 [negative regulation of mast cell degranulation] GO:0043547 [positive regulation of GTPase activity] GO:0046580 [negative regulation of Ras protein signal transduction] GO:0048261 [negative regulation of receptor-mediated endocytosis] GO:0050728 [negative regulation of inflammatory response] GO:0055037 [recycling endosome] GO:0060368 [regulation of Fc receptor mediated stimulatory signaling pathway] GO:0061630 [ubiquitin protein ligase activity] GO:1900165 [negative regulation of interleukin-6 secretion] GO:1900235 [negative regulation of Kit signaling pathway] Show all	505 aa 58.5 kDa	No	0
RABGEF1-202 ENSP00000390480 ENST00000437078	A0A0A0MSJ3 [Direct mapping] RAB guanine nucleotide exchange factor (GEF) 1, isoform CRA_c; Rab5 GDP/GTP exchange factor Show all	Predicted intracellular proteins Show all		299 aa 34.4 kDa	No	0
RABGEF1-203 ENSP00000421124 ENST00000510829	Q3HKR1 [Direct mapping] RAP1 short isoform; Rab5 GDP/GTP exchange factor Show all	Predicted intracellular proteins Show all	GO:0003677 [DNA binding] GO:0008270 [zinc ion binding] Show all	407 aa 47 kDa	No	0