RAP1A RAP1A, member of RAS oncogene family [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAP1Aprovided by HGNC
Official Full Name: RAP1A, member of RAS oncogene familyprovided by HGNC
Primary source: HGNC:HGNC:9855
See related: Ensembl:ENSG00000116473 MIM:179520; AllianceGenome:HGNC:9855
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RAP1; C21KG; G-22K; KREV1; KREV-1; SMGP21
Summary: This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression: Ubiquitous expression in appendix (RPKM 12.2), esophagus (RPKM 11.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (111542009..111716691)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (111556699..111731587)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (112084631..112259313)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rap1A Modulates Store-Operated Calcium Entry in the Lung Endothelium: A Novel Mechanism Controlling NFAT-Mediated Vascular Inflammation and Permeability.
Title: Rap1A Modulates Store-Operated Calcium Entry in the Lung Endothelium: A Novel Mechanism Controlling NFAT-Mediated Vascular Inflammation and Permeability.
TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection.
Title: TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection.
Activation of the MEK/ERK Pathway Mediates the Inhibitory Effects of Silvestrol on Nasopharyngeal Carcinoma Cells via RAP1A, HK2, and GADD45A.
Title: Activation of the MEK/ERK Pathway Mediates the Inhibitory Effects of Silvestrol on Nasopharyngeal Carcinoma Cells via RAP1A, HK2, and GADD45A.
ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak.
Title: ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak.
Natural Killer Cell Transcript 4 promotes the development of Sjgren's syndrome via activation of Rap1 on B cells.
Title: Natural Killer Cell Transcript 4 promotes the development of Sjӧgren's syndrome via activation of Rap1 on B cells.
Mechanisms of autoregulation of C3G, activator of the GTPase Rap1, and its catalytic deregulation in lymphomas.
Title: Mechanisms of autoregulation of C3G, activator of the GTPase Rap1, and its catalytic deregulation in lymphomas.
Rap1 Small GTPase Regulates Vascular Endothelial-Cadherin-Mediated Endothelial Cell-Cell Junctions and Vascular Permeability.
Title: Rap1 Small GTPase Regulates Vascular Endothelial-Cadherin-Mediated Endothelial Cell-Cell Junctions and Vascular Permeability.
Involvement of miR-337 in high glucose-suppressed osteogenic differentiation in bone marrow mesenchymal stem cells via negative regulation of Rap1A.
Title: Involvement of miR-337 in high glucose-suppressed osteogenic differentiation in bone marrow mesenchymal stem cells via negative regulation of Rap1A.
Identification of Radil as a Ras binding partner and putative activator.
Title: Identification of Radil as a Ras binding partner and putative activator.
The Mystery of Rap1 Suppression of Oncogenic Ras.
Title: The Mystery of Rap1 Suppression of Oncogenic Ras.

Submit: New GeneRIF Correction See all GeneRIFs (152)

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
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	Prostaglandin E2-mediated HIV-1 inhibition requires the EPAC/RAP/RhoA signaling pathway by downregulation of HIV-1 CA production	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL010000 (e-PCR)
- UniSTS:73811

D1S3458 (e-PCR)
- UniSTS:154712

SHGC-141 (e-PCR)
- UniSTS:19325

Rap1a (e-PCR), detects polymorphism
- UniSTS:532892

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables GDP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Rap protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Rap protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cAMP	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nerve growth factor stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in microvillus assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in nerve growth factor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
part_of guanyl-nucleotide exchange factor complex	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in sperm midpiece	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ras-related protein Rap-1A

Names: GTP-binding protein smg p21A; Ras-related protein Krev-1

NP_001010935.1

EC 3.6.5.2

NP_001278825.1

EC 3.6.5.2

NP_001357145.1

EC 3.6.5.2

NP_001357146.1

EC 3.6.5.2

NP_001380995.1

EC 3.6.5.2

NP_002875.1

EC 3.6.5.2

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_001010935.3 → NP_001010935.1 ras-related protein Rap-1A precursor

See identical proteins and their annotated locations for NP_001010935.1

Status: REVIEWED

Source sequence(s)

AK094737, BC014086, BG743233, BI460853, BQ220294, BU167449, BU189979, BX473371, CA446565, DA102623, DB312010

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Related

ENSP00000509234.1, ENST00000687939.1

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
NM_001291896.3 → NP_001278825.1 ras-related protein Rap-1A precursor

See identical proteins and their annotated locations for NP_001278825.1

Status: REVIEWED

Source sequence(s)

AL049557, AL139012

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
NM_001370216.2 → NP_001357145.1 ras-related protein Rap-1A precursor

Status: REVIEWED

Source sequence(s)

AL049557, AL390195

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Related

ENSP00000348786.1, ENST00000356415.5

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
NM_001370217.2 → NP_001357146.1 ras-related protein Rap-1A precursor

Status: REVIEWED

Source sequence(s)

AL049557, AL139012

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
NM_001394066.1 → NP_001380995.1 ras-related protein Rap-1A precursor

Status: REVIEWED

Source sequence(s)

AL049557, AL139012

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms
NM_002884.4 → NP_002875.1 ras-related protein Rap-1A precursor

See identical proteins and their annotated locations for NP_002875.1

Status: REVIEWED

Source sequence(s)

AK094737, BC014086, BG743233, BI460853, BU167449, BU189979, BX473371, CA446565, CD108761, DA102623, DB312010

Consensus CDS

CCDS840.1

UniProtKB/Swiss-Prot

P10113, P62834

UniProtKB/TrEMBL

A8KAH9, Q5U0C3

Related

ENSP00000358723.3, ENST00000369709.4

Conserved Domains (1) summary

cd04175
Location:3 → 167

Rap1; Rap1 family GTPase consists of Rap1a and Rap1b isoforms