RABGEF1 - RAB guanine nucleotide exchange factor 1 Gene

Also Known as RAP1; RABEX5; rabex-5

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 27342

About RABGEF1

Cytogenetic location: 7q11.21 Genomic coordinates (GRCh38): 7:66,654,567-66,811,464 (from NCBI)

This gene has 7 transcripts (splice variants), 215 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 15.3) and 25 other tissues.

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]

RABGEF1 Products (39)

mRNA Protein Name
NM_001287060.2 NP_001273989.1 rab5 GDP/GTP exchange factor isoform a
NM_001287061.2 NP_001273990.1 rab5 GDP/GTP exchange factor isoform b
NM_001287062.2 NP_001273991.1 rab5 GDP/GTP exchange factor isoform c
NM_001367722.1 NP_001354651.1 rab5 GDP/GTP exchange factor isoform a
NM_001367723.1 NP_001354652.1 rab5 GDP/GTP exchange factor isoform a
NM_001367724.1 NP_001354653.1 rab5 GDP/GTP exchange factor isoform a
NM_001367725.1 NP_001354654.1 rab5 GDP/GTP exchange factor isoform c
NM_001367726.1 NP_001354655.1 rab5 GDP/GTP exchange factor isoform c
NM_001367727.1 NP_001354656.1 rab5 GDP/GTP exchange factor isoform c
NM_001367728.1 NP_001354657.1 rab5 GDP/GTP exchange factor isoform c
NM_001367729.1 NP_001354658.1 rab5 GDP/GTP exchange factor isoform c
NM_001367730.1 NP_001354659.1 rab5 GDP/GTP exchange factor isoform c
NM_001367731.1 NP_001354660.1 rab5 GDP/GTP exchange factor isoform c
NM_001367732.1 NP_001354661.1 rab5 GDP/GTP exchange factor isoform c
NM_001367733.1 NP_001354662.1 rab5 GDP/GTP exchange factor isoform c
NM_001367734.1 NP_001354663.1 rab5 GDP/GTP exchange factor isoform c
NM_001367735.1 NP_001354664.1 rab5 GDP/GTP exchange factor isoform c
NM_001367736.1 NP_001354665.1 rab5 GDP/GTP exchange factor isoform c
NM_001367737.1 NP_001354666.1 rab5 GDP/GTP exchange factor isoform d
NM_001367738.1 NP_001354667.1 rab5 GDP/GTP exchange factor isoform d
NM_001367739.1 NP_001354668.1 rab5 GDP/GTP exchange factor isoform d
NM_001367740.1 NP_001354669.1 rab5 GDP/GTP exchange factor isoform d
NM_001367741.1 NP_001354670.1 rab5 GDP/GTP exchange factor isoform e
NM_001367742.1 NP_001354671.1 rab5 GDP/GTP exchange factor isoform e
NM_001367743.1 NP_001354672.1 rab5 GDP/GTP exchange factor isoform f precursor
NM_001367744.1 NP_001354673.1 rab5 GDP/GTP exchange factor isoform f precursor
NM_001367745.1 NP_001354674.1 rab5 GDP/GTP exchange factor isoform g
NM_001367746.1 NP_001354675.1 rab5 GDP/GTP exchange factor isoform g
NM_001367747.1 NP_001354676.1 rab5 GDP/GTP exchange factor isoform g
NM_001367748.1 NP_001354677.1 rab5 GDP/GTP exchange factor isoform g
NM_001367749.1 NP_001354678.1 rab5 GDP/GTP exchange factor isoform h
NM_001367750.1 NP_001354679.1 rab5 GDP/GTP exchange factor isoform h
NM_001367751.1 NP_001354680.1 rab5 GDP/GTP exchange factor isoform h
NM_001367752.1 NP_001354681.1 rab5 GDP/GTP exchange factor isoform i
NM_001367753.1 NP_001354682.1 rab5 GDP/GTP exchange factor isoform j
NM_001367754.1 NP_001354683.1 rab5 GDP/GTP exchange factor isoform k
NM_001367755.1 NP_001354684.1 rab5 GDP/GTP exchange factor isoform l
NM_001367756.1 NP_001354685.1 rab5 GDP/GTP exchange factor isoform m
NM_014504.3 NP_055319.1 rab5 GDP/GTP exchange factor isoform c

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables guanyl-nucleotide exchange factor activity IDA
IDA: Inferred from direct assay
20937701 GOA
enables guanyl-nucleotide exchange factor activity IMP
IMP: Inferred from mutant phenotype
23382462 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
23382462 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in protein targeting to membrane IMP
IMP: Inferred from mutant phenotype
23382462 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in early endosome IMP
IMP: Inferred from mutant phenotype
23382462 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RABGEF1 Protein Structure

zf-A20

zf-A20: A20-like zinc finger (17 - 40)

VPS9

VPS9: Vacuolar sorting protein 9 (VPS9) domain (270 - 370)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 491 a.a.
Protein Preferred Names Protein Names

rab5 GDP/GTP exchange factor

  • RAB guanine nucleotide exchange factor (GEF) 1

RABGEF1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
RABGEF1 Q9UJ41 TEAD4 Homo sapiens D3DUQ6
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 THOC1 Homo sapiens Q96FV9
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 THOC1 Homo sapiens Q96FV9
Y2H Array
25416956
Intra
RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Y2H Array
25416956
Intra
RABGEF1 Q9UJ41 TRIM54 Homo sapiens Q9BYV2
Y2H Prey Pooling
25416956
Intra
RABGEF1 Q9UJ41 TRIM15 Homo sapiens Q9C019
Y2H Prey Pooling
25416956
Intra
RABGEF1 Q9UJ41 TRIM15 Homo sapiens Q9C019
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 TXN2 Homo sapiens Q99757
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 TXN2 Homo sapiens Q99757
Y2H Array
25416956
Intra
RABGEF1 Q9UJ41 EGFR Homo sapiens P00533
IF
16499958
Intra
RABGEF1 Q9UJ41 EGFR Homo sapiens P00533
Anti Tag CoIP
16499958
Intra
RABGEF1 Q9UJ41 UBB Homo sapiens P0CG47
Pull Down
16499958
Intra
RABGEF1 Q9UJ41 UBB Homo sapiens P0CG47
GMS
16499958
Intra
RABGEF1 Q9UJ41 RABEP1 Homo sapiens Q15276
Anti Tag CoIP
33961781
Intra
RABGEF1 Q9UJ41 BLOC1S6 Homo sapiens Q9UL45
Y2H Array
25416956
Intra
RABGEF1 Q9UJ41 DAZAP2 Homo sapiens Q15038
Y2H Prey Pooling
25416956
Intra
RABGEF1 Q9UJ41 KXD1 Homo sapiens Q9BQD3
Pull Down
16189514
Intra
RABGEF1 Q9UJ41 KXD1 Homo sapiens Q9BQD3
Y2H Pooling
16189514
Intra
RABGEF1 Q9UJ41 ZC2HC1C Homo sapiens Q53FD0
Validated Y2H
25416956
Intra
RABGEF1 Q9UJ41 ZC2HC1C Homo sapiens Q53FD0
Y2H Prey Pooling
25416956
Intra
RABGEF1 Q9UJ41 UBC Homo sapiens Q96C32
Y2H Prey Pooling
25416956
Intra
RABGEF1 Q9UJ41 UBC Homo sapiens Q96C32
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases Alias
Smith-Mccort Dysplasia 1

  • Smith-Mccort Dysplasia

  • SMC1

  • Smc

  • Smith Mccort Dysplasia

  • Smith-Mccort Dwarfism
Dyggve-Melchior-Clausen Disease

  • Dyggve-Melchior-Clausen Syndrome

  • DMC

  • Dmc Disease

  • Pseudo-Morquio Disease Type I

  • Dmc Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS11586 RABGEF1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Felis catus RABGEF1 VGNC VGNC:108501
Rattus norvegicus RABGEF1 RGD RGD:1307295
Canis familiaris RABGEF1 VGNC VGNC:54062
Mus musculus RABGEF1 MGD MGI:1929459
Others RABGEF1 NCBI