Format

Send to:

Choose Destination

RAP1GAP RAP1 GTPase activating protein [ Homo sapiens (human) ]

Gene ID: 5909, updated on 8-Dec-2018

Summary

Official Symbol
RAP1GAPprovided by HGNC
Official Full Name
RAP1 GTPase activating proteinprovided by HGNC
Primary source
HGNC:HGNC:9858
See related
Ensembl:ENSG00000076864 MIM:600278
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
RAPGAP; RAP1GA1; RAP1GAP1; RAP1GAPII
Summary
This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
Expression
Biased expression in thyroid (RPKM 75.3), brain (RPKM 38.1) and 11 other tissues See more
Orthologs

Genomic context

See RAP1GAP in Genome Data Viewer
Location:
1p36.12
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (21596221..21669444, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21922708..21996010, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene alkaline phosphatase, biomineralization associated Neighboring gene long intergenic non-protein coding RNA 2596 Neighboring gene ubiquitin specific peptidase 48 Neighboring gene low density lipoprotein receptor class A domain containing 2 Neighboring gene heparan sulfate proteoglycan 2

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystem (from WikiPathways)
    Human Thyroid Stimulating Hormone (TSH) signaling pathway, organism-specific biosystemHuman thyroid stimulating hormone (TSH) is a glycoprotein hormone secreted from the anterior pituitary lobe, which plays an important physiological role in regulation of the hypothalamus-pituitary-th...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • RET signaling, organism-specific biosystem (from REACTOME)
    RET signaling, organism-specific biosystemThe RET proto-oncogene encodes a receptor tyrosine kinase expressed primarily in urogenital precursor cells, spermatogonocytes, dopaminergic neurons, motor neurons and neural crest progenitors and de...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signalling, organism-specific biosystem (from REACTOME)
    Rap1 signalling, organism-specific biosystemRap1 (Ras-proximate-1) is a small G protein in the Ras superfamily. Like all G proteins, Rap1 is activated when bound GDP is exchanged for GTP. Rap1 is targeted to lipid membranes by the covalent att...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0474

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity EXP
Inferred from Experiment
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity NAS
Non-traceable Author Statement
more info
PubMed 
Ras GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axon guidance TAS
Traceable Author Statement
more info
 
negative regulation of microvillus assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rap1 GTPase-activating protein 1

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.

Genomic

  1. NG_029807.1 RefSeqGene

    Range
    4984..78143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145657.2NP_001139129.1  rap1 GTPase-activating protein 1 isoform b

    See identical proteins and their annotated locations for NP_001139129.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice junctions compared to variant 4. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform d.
    Source sequence(s)
    AB007943, BC035030, HY115754
    Consensus CDS
    CCDS53276.1
    UniProtKB/Swiss-Prot
    P47736
    Related
    ENSP00000441661.1, ENST00000542643.6
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  2. NM_001145658.2NP_001139130.1  rap1 GTPase-activating protein 1 isoform a

    See identical proteins and their annotated locations for NP_001139130.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 4. The resulting isoform (a) is longer at the N-terminus and lacks an alternate internal segment compared to isoform d.
    Source sequence(s)
    BC035030, BC054490, BM739021, BP200029, CV574545
    Consensus CDS
    CCDS53277.1
    UniProtKB/Swiss-Prot
    P47736
    Related
    ENSP00000434033.2, ENST00000495204.5
    Conserved Domains (2) summary
    smart00390
    Location:6181
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    pfam02145
    Location:275454
    Rap_GAP; Rap/ran-GAP
  3. NM_001330383.2NP_001317312.1  rap1 GTPase-activating protein 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (d).
    Source sequence(s)
    AB007943, BC035030, BI546732, BM742308, HY115754
    Consensus CDS
    CCDS81276.1
    UniProtKB/TrEMBL
    X6R8W7
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  4. NM_001350524.1NP_001337453.1  rap1 GTPase-activating protein 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AB007943, AI301600, BC035030, BI546732, HY115754
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  5. NM_001350525.1NP_001337454.1  rap1 GTPase-activating protein 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AB007943, AI301600, BC035030, BX094488, HY115754
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  6. NM_001350526.1NP_001337455.1  rap1 GTPase-activating protein 1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AB007943, AF114047, AI301600, AL359815, BC035030, BX094488, HY115754
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  7. NM_001350527.1NP_001337456.1  rap1 GTPase-activating protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AB007943, AI301600, BC035030, BM821324, BX094488, HY115754, HY136222
    Consensus CDS
    CCDS218.1
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  8. NM_001350528.1NP_001337457.1  rap1 GTPase-activating protein 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AB007943, AI301600, BC035030, BM821324, BX094488, CF139631, HY115754, HY136222
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  9. NM_002885.3NP_002876.2  rap1 GTPase-activating protein 1 isoform c

    See identical proteins and their annotated locations for NP_002876.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 4. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform d. Variants 3 and 8 encode the same protein (isoform c)/
    Source sequence(s)
    AB007943, AL359815, BC035030, HY115754, M64788
    Consensus CDS
    CCDS218.1
    UniProtKB/Swiss-Prot
    P47736
    UniProtKB/TrEMBL
    A0A024RAB5
    Related
    ENSP00000363897.4, ENST00000374765.8
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    21596221..21669444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001965.1XP_016857454.1  rap1 GTPase-activating protein 1 isoform X1

    UniProtKB/TrEMBL
    X6R8W7
    Related
    ENSP00000363895.2, ENST00000374763.6
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  2. XM_017001967.1XP_016857456.1  rap1 GTPase-activating protein 1 isoform X3

  3. XM_006710805.2XP_006710868.2  rap1 GTPase-activating protein 1 isoform X2

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  4. XM_006710804.2XP_006710867.2  rap1 GTPase-activating protein 1 isoform X1

    UniProtKB/TrEMBL
    X6R8W7
    Related
    ENSP00000290101.5, ENST00000290101.8
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  5. XM_017001973.1XP_016857462.1  rap1 GTPase-activating protein 1 isoform X8

    UniProtKB/Swiss-Prot
    P47736
    UniProtKB/TrEMBL
    A0A024RAB5
    Related
    ENSP00000363893.2, ENST00000374761.6
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  6. XM_017001982.1XP_016857471.1  rap1 GTPase-activating protein 1 isoform X4

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  7. XM_017001975.1XP_016857464.1  rap1 GTPase-activating protein 1 isoform X7

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  8. XM_017001970.1XP_016857459.1  rap1 GTPase-activating protein 1 isoform X5

    UniProtKB/Swiss-Prot
    P47736
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  9. XM_017001969.1XP_016857458.1  rap1 GTPase-activating protein 1 isoform X4

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  10. XM_017001966.1XP_016857455.1  rap1 GTPase-activating protein 1 isoform X2

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  11. XM_017001968.1XP_016857457.1  rap1 GTPase-activating protein 1 isoform X4

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  12. XM_017001977.1XP_016857466.1  rap1 GTPase-activating protein 1 isoform X11

  13. XM_017001976.1XP_016857465.1  rap1 GTPase-activating protein 1 isoform X10

  14. XM_017001972.1XP_016857461.1  rap1 GTPase-activating protein 1 isoform X7

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  15. XM_005245955.3XP_005246012.2  rap1 GTPase-activating protein 1 isoform X5

    See identical proteins and their annotated locations for XP_005246012.2

    UniProtKB/Swiss-Prot
    P47736
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  16. XM_017001987.1XP_016857476.1  rap1 GTPase-activating protein 1 isoform X8

    UniProtKB/Swiss-Prot
    P47736
    UniProtKB/TrEMBL
    A0A024RAB5
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  17. XM_017001991.1XP_016857480.1  rap1 GTPase-activating protein 1 isoform X10

  18. XM_017001990.1XP_016857479.1  rap1 GTPase-activating protein 1 isoform X7

    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  19. XM_017001984.1XP_016857473.1  rap1 GTPase-activating protein 1 isoform X5

    UniProtKB/Swiss-Prot
    P47736
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  20. XM_017001988.1XP_016857477.1  rap1 GTPase-activating protein 1 isoform X8

    UniProtKB/Swiss-Prot
    P47736
    UniProtKB/TrEMBL
    A0A024RAB5
    Conserved Domains (2) summary
    pfam02145
    Location:211390
    Rap_GAP; Rap/ran-GAP
    pfam02188
    Location:117
    GoLoco; GoLoco motif
  21. XM_017001980.1XP_016857469.1  rap1 GTPase-activating protein 1 isoform X12

  22. XM_017001971.1XP_016857460.1  rap1 GTPase-activating protein 1 isoform X6

  23. XM_017001985.1XP_016857474.1  rap1 GTPase-activating protein 1 isoform X13

  24. XM_017001974.1XP_016857463.1  rap1 GTPase-activating protein 1 isoform X9

RNA

  1. XR_946731.2 RNA Sequence

  2. XR_946733.2 RNA Sequence

  3. XR_001737348.1 RNA Sequence

  4. XR_001737350.1 RNA Sequence

  5. XR_946727.1 RNA Sequence

  6. XR_946726.1 RNA Sequence

  7. XR_946725.1 RNA Sequence

    Related
    ENST00000611549.4
  8. XR_001737352.1 RNA Sequence

  9. XR_001737354.1 RNA Sequence

  10. XR_946728.2 RNA Sequence

  11. XR_001737351.1 RNA Sequence

  12. XR_946730.2 RNA Sequence

  13. XR_001737349.2 RNA Sequence

  14. XR_946729.3 RNA Sequence

  15. XR_001737356.2 RNA Sequence

  16. XR_001737355.2 RNA Sequence

  17. XR_001737353.2 RNA Sequence

Support Center