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

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; AllianceGenome:HGNC:17676
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: mouse all
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Genomic context

Location:: 7q11.21

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (66654567..66811464)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (67874231..68031149)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (66119554..66276451)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.
Title: RabGEF1 functions as an oncogene in U251 glioblastoma cells and is involved in regulating AKT and Erk pathways.
The authors demonstrate that RABGEF1, the upstream factor of the endosomal Rab GTPase cascade, is recruited to damaged mitochondria via ubiquitin binding downstream of Parkin. RABGEF1 directs the downstream Rab proteins, RAB5 and RAB7A, to damaged mitochondria, whose associations are further regulated by mitochondrial Rab-GAPs.
Title: Endosomal Rab cycles regulate Parkin-mediated mitophagy.
RABEX-5 mRNA expression was significantly upregulated in colorectal cancer tissues.
Title: Higher RABEX-5 mRNA predicts unfavourable survival in patients with colorectal cancer.
we identify Rabex-5 as a Immunomodulatory drugs (IMiDs) target molecule that functions to restrain TLR activated auto-immune promoting pathways. We propose that release of Rabex-5 from complex with Cereblon enables the suppression of immune responses, contributing to the antiinflammatory properties of IMiDs.
Title: Rabex-5 is a lenalidomide target molecule that negatively regulates TLR-induced type 1 IFN production.
RABGEF1 mediates recycling endosome fusion with GAS-containing autophagosome-like vacuoles through the STX6-VAMP3-VTI1B complex; SNAREs are involved in autophagosome formation in response to bacterial infection
Title: The STX6-VTI1B-VAMP3 complex facilitates xenophagy by regulating the fusion between recycling endosomes and autophagosomes.
findings reveal a key role for RABGEF1 in dampening keratinocyte-intrinsic MYD88 signaling and sustaining epidermal barrier function
Title: Guanine nucleotide exchange factor RABGEF1 regulates keratinocyte-intrinsic signaling to maintain skin homeostasis.
The results contradict the model of feedback activation of Rab5 and instead indicate that Rbpt5 is recruited by both Rabex5 recognizing ubiquitylated cargo and by Rab4 to activate Rab5 in a feed-forward manner.
Title: Rabaptin5 is recruited to endosomes by Rab4 and Rabex5 to regulate endosome maturation.
RABEX-5 is a potential useful indicator and predicts a poor long-term prognosis for small cell lung cancer(SCLC), which should be considered in defining the prognosis with other well-known prognosticators in C-SCLC patients
Title: Elevated RABEX-5 protein expression predicts poor prognosis in combined small cell lung cancer.
Expression of RABEX-5 is significantly higher in gastric cancer tissues and is associated with tumor size and lymph node metastasis.
Title: RABEX-5 is upregulated and plays an oncogenic role in gastric cancer development by activating the VEGF signaling pathway.
analysis of Rabex-5 GEF activation by Rabaptin-5
Title: Molecular mechanism for Rabex-5 GEF activation by Rabaptin-5.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36373 (e-PCR)
- UniSTS:7189

RH102281 (e-PCR)
- UniSTS:96615

RH75235 (e-PCR)
- UniSTS:93047

RH40777 (e-PCR)
- UniSTS:86679

G29190 (e-PCR)
- UniSTS:47797

GDB:1318420 (e-PCR)
- UniSTS:2742

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Kit signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in dendritic transport	IEA Inferred from Electronic Annotation more info
involved_in mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in mast cell migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Kit signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of leukocyte migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell activation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in receptor-mediated endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of Fc receptor mediated stimulatory signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in early endosome	IMP Inferred from Mutant Phenotype more info	PubMed
located_in early endosome membrane	TAS Traceable Author Statement more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in presynaptic endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001287060.2 → NP_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

UniProtKB/Swiss-Prot

Q9UJ41

UniProtKB/TrEMBL

A0A0A0MSJ3, B3KMF1

Conserved Domains (2) summary

pfam02204
Location:78 → 178

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:9 → 28

DUF5601; Domain of unknown function (DUF5601)
NM_001287061.2 → NP_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

UniProtKB/TrEMBL

E9PFK9

Related

ENSP00000403429.1, ENST00000439720.3

Conserved Domains (2) summary

pfam01754
Location:31 → 54

zf-A20; A20-like zinc finger

pfam02204
Location:284 → 384

VPS9; Vacuolar sorting protein 9 (VPS9) domain
NM_001287062.2 → NP_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

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Related

ENSP00000415815.1, ENST00000450873.6

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367722.1 → NP_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

Conserved Domains (2) summary

pfam02204
Location:78 → 178

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:9 → 28

DUF5601; Domain of unknown function (DUF5601)
NM_001367723.1 → NP_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

Conserved Domains (2) summary

pfam02204
Location:78 → 178

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:9 → 28

DUF5601; Domain of unknown function (DUF5601)
NM_001367724.1 → NP_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

Conserved Domains (2) summary

pfam02204
Location:78 → 178

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:9 → 28

DUF5601; Domain of unknown function (DUF5601)
NM_001367725.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367726.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367727.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367728.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367729.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367730.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367731.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367732.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367733.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367734.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367735.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367736.1 → NP_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

Consensus CDS

CCDS5535.1

UniProtKB/Swiss-Prot

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367737.1 → NP_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

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:271 → 371

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:159 → 221

DUF5601; Domain of unknown function (DUF5601)
NM_001367738.1 → NP_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

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:271 → 371

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:159 → 221

DUF5601; Domain of unknown function (DUF5601)
NM_001367739.1 → NP_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

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:271 → 371

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:159 → 221

DUF5601; Domain of unknown function (DUF5601)
NM_001367740.1 → NP_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

UniProtKB/TrEMBL

A8K3R3

Conserved Domains (3) summary

pfam02204
Location:271 → 371

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:159 → 221

DUF5601; Domain of unknown function (DUF5601)
NM_001367741.1 → NP_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

UniProtKB/TrEMBL

A8K3R3
NM_001367742.1 → NP_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

UniProtKB/TrEMBL

A8K3R3
NM_001367743.1 → NP_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

UniProtKB/TrEMBL

A8K3R3
NM_001367744.1 → NP_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

UniProtKB/TrEMBL

A8K3R3
NM_001367745.1 → NP_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

UniProtKB/TrEMBL

B3KMF1

Conserved Domains (2) summary

pfam02204
Location:104 → 204

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:4 → 54

DUF5601; Domain of unknown function (DUF5601)
NM_001367746.1 → NP_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

UniProtKB/TrEMBL

B3KMF1

Conserved Domains (2) summary

pfam02204
Location:104 → 204

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:4 → 54

DUF5601; Domain of unknown function (DUF5601)
NM_001367747.1 → NP_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

UniProtKB/TrEMBL

B3KMF1

Conserved Domains (2) summary

pfam02204
Location:104 → 204

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:4 → 54

DUF5601; Domain of unknown function (DUF5601)
NM_001367748.1 → NP_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

UniProtKB/TrEMBL

B3KMF1

Conserved Domains (2) summary

pfam02204
Location:104 → 204

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam18151
Location:4 → 54

DUF5601; Domain of unknown function (DUF5601)
NM_001367749.1 → NP_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
NM_001367750.1 → NP_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
NM_001367751.1 → NP_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
NM_001367752.1 → NP_001354681.1 rab5 GDP/GTP exchange factor isoform i

Status: VALIDATED

Source sequence(s)

AC006001, AC027644
NM_001367753.1 → NP_001354682.1 rab5 GDP/GTP exchange factor isoform j

Status: VALIDATED

Source sequence(s)

AC027644

UniProtKB/TrEMBL

Q3HKR1
NM_001367754.1 → NP_001354683.1 rab5 GDP/GTP exchange factor isoform k

Status: VALIDATED

Source sequence(s)

AC027644
NM_001367755.1 → NP_001354684.1 rab5 GDP/GTP exchange factor isoform l

Status: VALIDATED

Source sequence(s)

AC027644

Conserved Domains (3) summary

pfam02204
Location:270 → 359

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)
NM_001367756.1 → NP_001354685.1 rab5 GDP/GTP exchange factor isoform m

Status: VALIDATED

Source sequence(s)

AC027644

UniProtKB/TrEMBL

A8K3R3
NM_014504.3 → NP_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

B4DZM7, Q3HKR2, Q3HKR3, Q53FG0, Q9UJ41

UniProtKB/TrEMBL

A8K3R3

Related

ENSP00000284957.4, ENST00000284957.9

Conserved Domains (3) summary

pfam02204
Location:270 → 370

VPS9; Vacuolar sorting protein 9 (VPS9) domain

pfam01754
Location:17 → 39

zf-A20; A20-like zinc finger

pfam18151
Location:158 → 220

DUF5601; Domain of unknown function (DUF5601)

RNA

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
NR_160287.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC027644