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HRAS HRas proto-oncogene, GTPase [ Homo sapiens (human) ]

Gene ID: 3265, updated on 9-Feb-2020

Summary

Official Symbol
HRASprovided by HGNC
Official Full Name
HRas proto-oncogene, GTPaseprovided by HGNC
Primary source
HGNC:HGNC:5173
See related
Ensembl:ENSG00000174775 MIM:190020
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
CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1
Summary
This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 24.4), brain (RPKM 14.8) and 25 other tissues See more
Orthologs

Genomic context

See HRAS in Genome Data Viewer
Location:
11p15.5
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (532242..535576, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (532242..535561, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylserine synthase 2 Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene leucine rich repeat containing 56 Neighboring gene collagen alpha-2(IV) chain-like Neighboring gene LMNTD2 antisense RNA 1 Neighboring gene lamin tail domain containing 2 Neighboring gene Ras association domain family member 7

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
Bladder cancer, somatic
MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
Compare labs
Congenital giant melanocytic nevus
MedGen: C1842036 OMIM: 137550 GeneReviews: Not available
Compare labs
Costello syndrome
MedGen: C0587248 OMIM: 218040 GeneReviews: Costello Syndrome
Compare labs
Epidermal nevus
MedGen: C0334082 OMIM: 162900 GeneReviews: Not available
Compare labs
Epidermal nevus syndrome
MedGen: C0265318 OMIM: 163200 GeneReviews: Not available
Compare labs
Follicular thyroid carcinoma
MedGen: C4225426 OMIM: 188470 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2015-10-15)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2015-10-15)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Pretreatment of cells with HIV-1 gp160 results in marked inhibition of tyrosine phosphorylation of p59(fyn), PLC-gamma1, ras activation, and TNF-alpha secretion in anti-CD3 mAb activated CD4+ T cells PubMed
env HIV-1 gp160 alone or CD4/gp160 cross-linking induces tyrosine phosphorylation of intracellular substrates p59fyn, zap 70, and p95vav and also leads to ras activation PubMed
Nef nef HIV-1 Nef activates signal transduction pathways from Ras to mitogen-activated protein kinase cascades leading to induction of HIV-1 from latency PubMed
nef In HIV-1 Nef-expressing cells, phorbol 12-myristate 13-acetate treatment results in a 100-fold increase in NFAT-directed gene expression, indicating that Nef and the Ras/MAPK pathway synergistically activate NFAT activity PubMed
Tat tat Knocking down oxidase Nox4 completely suppresses Tat-dependent Ras and ERK activation downstream of Rac1 and RhoA and blocks Tat-dependent proliferation PubMed
tat HIV-1 Tat activates Ras activity and induces ERK phosphorylation through its arginine-glycine-aspartic (RGD) region in endothelial cells; Tat-induced Ras activation is mediated by tyrosine phosphorylation of Shc and recruitment of Grb2 PubMed

Go to the HIV-1, Human Interaction Database

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
GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Ras protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
Ras protein signal transduction TAS
Traceable Author Statement
more info
 
T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
T-helper 1 type immune response IEA
Inferred from Electronic Annotation
more info
 
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell cycle arrest IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle arrest IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cellular response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
cellular senescence IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular senescence IDA
Inferred from Direct Assay
more info
PubMed 
chemotaxis TAS
Traceable Author Statement
more info
PubMed 
defense response to protozoan IEA
Inferred from Electronic Annotation
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
intrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
mitotic cell cycle checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA replication IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of miRNA metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phospholipase C activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ruffle assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of wound healing IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
regulation of long-term neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to isolation stress IEA
Inferred from Electronic Annotation
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
stimulatory C-type lectin receptor signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
GTPase HRas
Names
GTP- and GDP-binding peptide B
Ha-Ras1 proto-oncoprotein
Harvey rat sarcoma viral oncogene homolog
Harvey rat sarcoma viral oncoprotein
Ras family small GTP binding protein H-Ras
c-has/bas p21 protein
p19 H-RasIDX protein
transformation gene: oncogene HAMSV
transforming protein p21
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
NP_001123914.1
NP_001304983.1
NP_005334.1
NP_789765.1

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_007666.1 RefSeqGene

    Range
    4975..8309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130442.2NP_001123914.1  GTPase HRas isoform 1

    See identical proteins and their annotated locations for NP_001123914.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    BM808879, BQ574535, BQ674260
    Consensus CDS
    CCDS7698.1
    UniProtKB/Swiss-Prot
    P01112
    UniProtKB/TrEMBL
    X5D945
    Related
    ENSP00000407586.1, ENST00000451590.5
    Conserved Domains (1) summary
    cd04138
    Location:3164
    H_N_K_Ras_like; Ras GTPase family containing H-Ras,N-Ras and K-Ras4A/4B
  2. NM_001318054.2NP_001304983.1  GTPase HRas isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) includes an alternate exon resulting in a different 5' UTR and the use of a downstream translation start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC137894, BC006499, BM808879
    UniProtKB/Swiss-Prot
    P01112
    Conserved Domains (1) summary
    cl21455
    Location:6785
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_005343.4NP_005334.1  GTPase HRas isoform 1

    See identical proteins and their annotated locations for NP_005334.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC137894, BC006499, BM801600, BM808879
    Consensus CDS
    CCDS7698.1
    UniProtKB/Swiss-Prot
    P01112
    UniProtKB/TrEMBL
    X5D945
    Related
    ENSP00000309845.7, ENST00000311189.8
    Conserved Domains (1) summary
    cd04138
    Location:3164
    H_N_K_Ras_like; Ras GTPase family containing H-Ras,N-Ras and K-Ras4A/4B
  4. NM_176795.4NP_789765.1  GTPase HRas isoform 2

    See identical proteins and their annotated locations for NP_789765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BM808879, BQ574535, BQ674260
    Consensus CDS
    CCDS7699.1
    UniProtKB/Swiss-Prot
    P01112
    Related
    ENSP00000388246.1, ENST00000417302.5
    Conserved Domains (1) summary
    cd04138
    Location:3150
    H_N_K_Ras_like; Ras GTPase family containing H-Ras,N-Ras and K-Ras4A/4B

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    532242..535576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187586.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    61883..65217 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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