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RABGEF1 RAB guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

Gene ID: 27342, updated on 7-Jun-2020

Summary

Official Symbol
RABGEF1provided by HGNC
Official Full Name
RAB guanine nucleotide exchange factor 1provided by HGNC
Primary source
HGNC:HGNC:17676
See related
Ensembl:ENSG00000154710 MIM:609700
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAP1; RABEX5; rabex-5
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]
Expression
Ubiquitous expression in bone marrow (RPKM 17.2), testis (RPKM 15.3) and 25 other tissues See more
Orthologs

Genomic context

See RABGEF1 in Genome Data Viewer
Location:
7q11.21
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (66654567..66811464)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66147151..66276451)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene uncharacterized LOC100996437 Neighboring gene potassium channel tetramerization domain containing 7 Neighboring gene uncharacterized LOC107986707 Neighboring gene GrpE like 1, mitochondrial pseudogene Neighboring gene GTF2I repeat domain containing 1 pseudogene 1 Neighboring gene general transcription factor IIi pseudogene 23 Neighboring gene uncharacterized LOC107983971 Neighboring gene RNA, U6 small nuclear 1254, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rab guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endocytosis IEA
Inferred from Electronic Annotation
more info
 
protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
early endosome membrane TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
recycling endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rab5 GDP/GTP exchange factor
Names
RAB guanine nucleotide exchange factor (GEF) 1
rabaptin-5-associated exchange factor for Rab5

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001287060.2NP_001273989.1  rab5 GDP/GTP exchange factor isoform a

    See identical proteins and their annotated locations for NP_001273989.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 6-8 all encode the same isoform (a).
    Source sequence(s)
    AC027644, AC079588
    Consensus CDS
    CCDS75610.1
    UniProtKB/Swiss-Prot
    Q9UJ41
    UniProtKB/TrEMBL
    A0A0A0MSJ3, B3KMF1
    Related
    ENSP00000390480.3, ENST00000437078.6
    Conserved Domains (1) summary
    pfam02204
    Location:78178
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
  2. NM_001287061.2NP_001273990.1  rab5 GDP/GTP exchange factor isoform b

    See identical proteins and their annotated locations for NP_001273990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is longer at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS69308.1
    UniProtKB/Swiss-Prot
    Q9UJ41
    UniProtKB/TrEMBL
    B3KMF1
    Related
    ENSP00000370208.3, ENST00000380828.6
    Conserved Domains (2) summary
    pfam01754
    Location:3154
    zf-A20; A20-like zinc finger
    pfam02204
    Location:284384
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
  3. NM_001287062.2NP_001273991.1  rab5 GDP/GTP exchange factor isoform c

    See identical proteins and their annotated locations for NP_001273991.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is longer at the N-terminus, compared to isoform a. Variants 3, 4, and 9-20 all encode the same isoform (c).
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    Q9UJ41
    UniProtKB/TrEMBL
    A0A024RDL6, A8K3R3, B3KMF1
    Related
    ENSP00000415815.1, ENST00000450873.6
    Conserved Domains (2) summary
    pfam01754
    Location:1740
    zf-A20; A20-like zinc finger
    pfam02204
    Location:270370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain
  4. NM_001367722.1NP_001354651.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 7, and 8, encodes isoform a.
    Source sequence(s)
    AC006001, AC027644
  5. NM_001367723.1NP_001354652.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 1, 6, and 8, encodes isoform a.
    Source sequence(s)
    AC027644, AC079588
  6. NM_001367724.1NP_001354653.1  rab5 GDP/GTP exchange factor isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variants 1, 6, and 7, encodes isoform a.
    Source sequence(s)
    AC027644
  7. NM_001367725.1NP_001354654.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variants 3, 4, and 10-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
  8. NM_001367726.1NP_001354655.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10), as well as variants 3, 4, 9, and 11-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
  9. NM_001367727.1NP_001354656.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11), as well as variants 3, 4, 9, 10, and 12-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
  10. NM_001367728.1NP_001354657.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12), as well as variants 3, 4, 9-11, and 13-20, encodes isoform c.
    Source sequence(s)
    AC006001, AC027644
  11. NM_001367729.1NP_001354658.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13), as well as variants 3, 4, 9-12, and 14-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
  12. NM_001367730.1NP_001354659.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14), as well as variants 3, 4, 9-13, and 15-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
  13. NM_001367731.1NP_001354660.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15), as well as variants 3, 4, 9-14, and 16-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
  14. NM_001367732.1NP_001354661.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16), as well as variants 3, 4, 9-15, and 17-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
  15. NM_001367733.1NP_001354662.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (17), as well as variants 3, 4, 9-16, and 18-20, encodes isoform c.
    Source sequence(s)
    AC027644, AC079588
  16. NM_001367734.1NP_001354663.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (18), as well as variants 3, 4, 9-17, 19, and 20, encodes isoform c.
    Source sequence(s)
    AC027644
  17. NM_001367735.1NP_001354664.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (19), as well as variants 3, 4, 9-18, and 20, encodes isoform c.
    Source sequence(s)
    AC027644
  18. NM_001367736.1NP_001354665.1  rab5 GDP/GTP exchange factor isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (20), as well as variants 3, 4, and 9-19, encodes isoform c.
    Source sequence(s)
    AC027644
  19. NM_001367737.1NP_001354666.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (21), as well as variants 22-24, encodes isoform d.
    Source sequence(s)
    AC006001, AC027644
  20. NM_001367738.1NP_001354667.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (22), as well as variants 21, 23, and 24, encodes isoform d.
    Source sequence(s)
    AC027644, AC079588
  21. NM_001367739.1NP_001354668.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (23), as well as variants 21, 22, and 24, encodes isoform d.
    Source sequence(s)
    AC027644
  22. NM_001367740.1NP_001354669.1  rab5 GDP/GTP exchange factor isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (24), as well as variants 21-23, encodes isoform d.
    Source sequence(s)
    AC027644, AC079588
  23. NM_001367741.1NP_001354670.1  rab5 GDP/GTP exchange factor isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (25), as well as variant 26, encodes isoform e.
    Source sequence(s)
    AC006001, AC027644
  24. NM_001367742.1NP_001354671.1  rab5 GDP/GTP exchange factor isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (26), as well as variant 25, encodes isoform e.
    Source sequence(s)
    AC027644
  25. NM_001367743.1NP_001354672.1  rab5 GDP/GTP exchange factor isoform f precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (27), as well as variant 28, encodes isoform f.
    Source sequence(s)
    AC027644
  26. NM_001367744.1NP_001354673.1  rab5 GDP/GTP exchange factor isoform f precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (28), as well as variant 27, encodes isoform f.
    Source sequence(s)
    AC027644
  27. NM_001367745.1NP_001354674.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (29), as well as variants 30-32, encodes isoform g.
    Source sequence(s)
    AC027644, AC079588
  28. NM_001367746.1NP_001354675.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (30), as well as variants 29, 31, and 32, encodes isoform g.
    Source sequence(s)
    AC027644, AC079588
  29. NM_001367747.1NP_001354676.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (31), as well as variants 29, 30, and 32, encodes isoform g.
    Source sequence(s)
    AC027644
  30. NM_001367748.1NP_001354677.1  rab5 GDP/GTP exchange factor isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (32), as well as variants 29-31, encodes isoform g.
    Source sequence(s)
    AC027644
  31. NM_001367749.1NP_001354678.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (33), as well as variants 34 and 35, encodes isoform h.
    Source sequence(s)
    AC027644
  32. NM_001367750.1NP_001354679.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (34), as well as variants 33 and 35, encodes isoform h.
    Source sequence(s)
    AC027644
  33. NM_001367751.1NP_001354680.1  rab5 GDP/GTP exchange factor isoform h

    Status: VALIDATED

    Description
    Transcript Variant: This variant (35), as well as variants 33 and 34, encodes isoform h.
    Source sequence(s)
    AC027644
  34. NM_001367752.1NP_001354681.1  rab5 GDP/GTP exchange factor isoform i

    Status: VALIDATED

    Source sequence(s)
    AC006001, AC027644
  35. NM_001367753.1NP_001354682.1  rab5 GDP/GTP exchange factor isoform j

    Status: VALIDATED

    Source sequence(s)
    AC027644
    Related
    ENSP00000421124.3, ENST00000510829.6
  36. NM_001367754.1NP_001354683.1  rab5 GDP/GTP exchange factor isoform k

    Status: VALIDATED

    Source sequence(s)
    AC027644
  37. NM_001367755.1NP_001354684.1  rab5 GDP/GTP exchange factor isoform l

    Status: VALIDATED

    Source sequence(s)
    AC027644
  38. NM_001367756.1NP_001354685.1  rab5 GDP/GTP exchange factor isoform m

    Status: VALIDATED

    Source sequence(s)
    AC027644
  39. NM_014504.3NP_055319.1  rab5 GDP/GTP exchange factor isoform c

    See identical proteins and their annotated locations for NP_055319.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure and includes an additional internal exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is longer at the N-terminus, compared to isoform a. Variants 3, 4, and 9-20 all encode the same isoform (c).
    Source sequence(s)
    AC027644
    Consensus CDS
    CCDS5535.1
    UniProtKB/Swiss-Prot
    Q9UJ41
    UniProtKB/TrEMBL
    A0A024RDL6
    Related
    ENSP00000284957.4, ENST00000284957.9
    Conserved Domains (2) summary
    pfam01754
    Location:1740
    zf-A20; A20-like zinc finger
    pfam02204
    Location:270370
    VPS9; Vacuolar sorting protein 9 (VPS9) domain

RNA

  1. NR_104676.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) includes the same 5' terminal exon but lacks the remaining exons found in variant 1, and it instead contains an alternate 3' terminal exon. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
    Source sequence(s)
    AC027644, AC079588
  2. NR_160287.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC027644

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    66654567..66811464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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