Format

Send to:

Choose Destination

RASGRP4 RAS guanyl releasing protein 4 [ Homo sapiens (human) ]

Gene ID: 115727, updated on 4-Oct-2020

Summary

Official Symbol
RASGRP4provided by HGNC
Official Full Name
RAS guanyl releasing protein 4provided by HGNC
Primary source
HGNC:HGNC:18958
See related
Ensembl:ENSG00000171777 MIM:607320
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
Summary
The protein encoded by this gene is a member of the Ras guanyl nucleotide-releasing protein (RasGRP) family of Ras guanine nucleotide exchange factors. It contains a Ras exchange motif, a diacylglycerol-binding domain, and two calcium-binding EF hands. This protein was shown to activate H-Ras in a cation-dependent manner in vitro. Expression of this protein in myeloid cell lines was found to be correlated with elevated level of activated RAS protein, and the RAS activation can be greatly enhanced by phorbol ester treatment, which suggested a role of this protein in diacylglycerol regulated cell signaling pathways. Studies of a mast cell leukemia cell line expressing substantial amounts of abnormal transcripts of this gene indicated that this gene may play an important role in the final stages of mast cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Expression
Biased expression in bone marrow (RPKM 11.0), appendix (RPKM 5.5) and 13 other tissues See more
Orthologs

Genomic context

See RASGRP4 in Genome Data Viewer
Location:
19q13.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38409055..38426219, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38899695..38916945, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sprouty related EVH1 domain containing 3 Neighboring gene gametogenetin Neighboring gene family with sequence similarity 98 member C Neighboring gene ryanodine receptor 1 Neighboring gene uncharacterized LOC107985290 Neighboring gene MAP4K1 antisense RNA 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1

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

Associated conditions

Description Tests
Variants in several genomic regions associated with asperger disorder.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP-dependent protein binding NAS
Non-traceable Author Statement
more info
PubMed 
Ras guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
diacylglycerol binding TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
RAS guanyl-releasing protein 4
Names
guanyl nucleotide releasing protein 4

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_001146202.2NP_001139674.1  RAS guanyl-releasing protein 4 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) uses an alternate in-frame splice junction compared to variant a. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC146669, FJ768677
    Consensus CDS
    CCDS59382.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000467604.1, ENST00000586305.5
    Conserved Domains (3) summary
    cd06224
    Location:57170
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:527576
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00147
    Location:183418
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  2. NM_001146203.2NP_001139675.1  RAS guanyl-releasing protein 4 isoform c

    See identical proteins and their annotated locations for NP_001139675.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame exon compared to variant a. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BQ028385, FJ768677
    Consensus CDS
    CCDS54264.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000411878.2, ENST00000433821.6
    Conserved Domains (3) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:449498
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02485
    Location:197319
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
  3. NM_001146204.2NP_001139676.1  RAS guanyl-releasing protein 4 isoform d

    See identical proteins and their annotated locations for NP_001139676.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) uses an alternate in-frame splice junction compared to variant a. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BQ028385, FJ768678
    Consensus CDS
    CCDS59384.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000468483.1, ENST00000587753.5
    Conserved Domains (3) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:472521
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02485
    Location:197320
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
  4. NM_001146205.2NP_001139677.1  RAS guanyl-releasing protein 4 isoform e

    See identical proteins and their annotated locations for NP_001139677.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) uses an alternate in-frame splice junction compared to variant a. The resulting isoform (e) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BQ028385, FJ768679
    Consensus CDS
    CCDS59383.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000416463.2, ENST00000454404.6
    Conserved Domains (3) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:507556
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02485
    Location:197398
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
  5. NM_001146206.2NP_001139678.1  RAS guanyl-releasing protein 4 isoform f

    See identical proteins and their annotated locations for NP_001139678.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) lacks an alternate in-frame segment compared to variant a. The resulting isoform (f) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BQ028385, FJ768680
    Consensus CDS
    CCDS54262.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000445966.1, ENST00000426920.6
    Conserved Domains (2) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:352401
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
  6. NM_001146207.2NP_001139679.1  RAS guanyl-releasing protein 4 isoform g

    See identical proteins and their annotated locations for NP_001139679.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks an alternate in-frame segment compared to variant a. The resulting isoform (g) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BQ028385, FJ768682
    Consensus CDS
    CCDS54263.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000293062.9, ENST00000293062.13
    Conserved Domains (3) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:444493
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cl02485
    Location:232335
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
  7. NM_170604.3NP_733749.1  RAS guanyl-releasing protein 4 isoform a

    See identical proteins and their annotated locations for NP_733749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC005789, AC011469, AF448437, AY048119, BQ028385
    Consensus CDS
    CCDS46068.1
    UniProtKB/Swiss-Prot
    Q8TDF6
    Related
    ENSP00000479844.1, ENST00000615439.5
    Conserved Domains (3) summary
    cd06224
    Location:57164
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00109
    Location:541590
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    smart00147
    Location:197432
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38409055..38426219 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_935732.2 RNA Sequence

    Related
    ENST00000588404.5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_052949.2: Suppressed sequence

    Description
    NM_052949.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_170602.1: Suppressed sequence

    Description
    NM_170602.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_170603.1: Suppressed sequence

    Description
    NM_170603.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center