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

    Gene ID: 3265, updated on 6-Oct-2024

    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; AllianceGenome:HGNC:5173
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HRAS in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (532242..535576, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (579238..582554, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (532242..535576, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:449779-450465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:454927-455648 Neighboring gene phosphatidylserine synthase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:460662-460845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:467161-467660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471334-471857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:471858-472380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:476893-477888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:484337-484858 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:487868-488008 Neighboring gene MPRA-validated peak1145 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21531 Neighboring gene ribonuclease/angiogenin inhibitor 1 Neighboring gene leucine rich repeat containing 56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:528505-529042 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:533792-534649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:534650-535506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:535528-536235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:540668-541490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:543860-544362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:544865-545366 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr11:548147-548965 and GRCh37_chr11:548966-549783 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:556675-557511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:561773-562348 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 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
    Costello syndrome
    MedGen: C0587248 OMIM: 218040 GeneReviews: HRAS-Related Costello Syndrome
    Compare labs
    Epidermal nevus Compare labs
    Large congenital melanocytic nevus
    MedGen: C1842036 OMIM: 137550 GeneReviews: Not available
    Compare labs
    Linear nevus sebaceous syndrome
    MedGen: C4552097 OMIM: 163200 GeneReviews: Not available
    Compare labs
    Malignant tumor of urinary bladder
    MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
    Compare labs
    Thyroid cancer, nonmedullary, 2
    MedGen: C4225426 OMIM: 188470 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2024-07-15)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2024-07-15)

    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

    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 GDP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activity TAS
    Traceable Author Statement
    more info
     
    enables phospholipase C activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-membrane adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in MAPK cascade TAS
    Traceable Author Statement
    more info
     
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in Schwann cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T-helper 1 type immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to gamma radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular senescence IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chemotaxis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in defense response to protozoan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oncogene-induced cell senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of miRNA metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ruffle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of type II interferon production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    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 regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of GTPase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    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 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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
    XP_054224585.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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), LRG_506

    mRNA and Protein(s)

    1. NM_001130442.3NP_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)
      AC137894, BM808879, BQ574535, BQ674260
      Consensus CDS
      CCDS7698.1
      UniProtKB/Swiss-Prot
      B5BUA0, P01112, Q14080, Q6FHV9, Q9BR65, Q9UCE2
      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

      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
      cl38936
      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
      B5BUA0, P01112, Q14080, Q6FHV9, Q9BR65, Q9UCE2
      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_176795.5NP_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)
      AC137894, BM808879, BQ574535, BQ674260
      Consensus CDS
      CCDS7699.1
      UniProtKB/TrEMBL
      A0A804HJ06
      Related
      ENSP00000388246.1, ENST00000417302.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      579238..582554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368610.1XP_054224585.1  GTPase HRas isoform X1

      UniProtKB/Swiss-Prot
      B5BUA0, P01112, Q14080, Q6FHV9, Q9BR65, Q9UCE2
      UniProtKB/TrEMBL
      X5D945