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RASSF5 Ras association domain family member 5 [ Homo sapiens (human) ]

Gene ID: 83593, updated on 5-Aug-2018

Summary

Official Symbol
RASSF5provided by HGNC
Official Full Name
Ras association domain family member 5provided by HGNC
Primary source
HGNC:HGNC:17609
See related
Ensembl:ENSG00000266094 MIM:607020; Vega:OTTHUMG00000184616
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
RAPL; Maxp1; NORE1; NORE1A; NORE1B; RASSF3
Summary
This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in bone marrow (RPKM 44.1), lymph node (RPKM 34.6) and 20 other tissues See more
Orthologs

Genomic context

See RASSF5 in Genome Data Viewer
Location:
1q32.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (206507530..206589284)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (206680866..206762616)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 72 member A Neighboring gene SLIT-ROBO Rho GTPase activating protein 2 Neighboring gene microRNA 6769b Neighboring gene inhibitor of nuclear factor kappa B kinase subunit epsilon Neighboring gene ribosomal protein L7a pseudogene 20 Neighboring gene eukaryotic translation initiation factor 2D Neighboring gene uncharacterized LOC105372876 Neighboring gene dual specificity tyrosine phosphorylation regulated kinase 3 Neighboring gene mitogen-activated protein kinase-activated protein kinase 2 Neighboring gene ribosomal protein S14 pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Pathways from BioSystems

  • Leukocyte transendothelial migration, organism-specific biosystem (from KEGG)
    Leukocyte transendothelial migration, organism-specific biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Leukocyte transendothelial migration, conserved biosystem (from KEGG)
    Leukocyte transendothelial migration, conserved biosystemLeukocyte migaration from the blood into tissues is vital for immune surveillance and inflammation. During this diapedesis of leukocytes, the leukocytes bind to endothelial cell adhesion molecules (C...
  • Non-small cell lung cancer, organism-specific biosystem (from KEGG)
    Non-small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
  • Non-small cell lung cancer, conserved biosystem (from KEGG)
    Non-small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heter...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • 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...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD4+ T cells, organism-specific biosystem
    TCR signaling in naive CD4+ T cells
  • TCR signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
    TCR signaling in naive CD8+ T cells, organism-specific biosystem
    TCR signaling in naive CD8+ T cells

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10823, MGC17344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras GTPase binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras association domain-containing protein 5
Names
Rap1-binding protein
Ras association (RalGDS/AF-6) domain family 5
Ras association (RalGDS/AF-6) domain family member 5
Ras effector-like protein
new ras effector 1
novel Ras effector 1
regulator for cell adhesion and polarization enriched in lymphoid tissue
tumor suppressor RASSF3

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_029062.2 RefSeqGene

    Range
    4985..86739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_182663.3NP_872604.1  ras association domain-containing protein 5 isoform A

    See identical proteins and their annotated locations for NP_872604.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as transcript A, represents the longest transcript and encodes the longest isoform (A), also known as NORE1A.
    Source sequence(s)
    AK289861, AK291268, BC004270, CD367770
    Consensus CDS
    CCDS30998.1
    UniProtKB/Swiss-Prot
    Q8WWW0
    UniProtKB/TrEMBL
    A8K5F3
    Related
    ENSP00000462099.1, OTTHUMP00000272809, ENST00000579436.6, OTTHUMT00000468959
    Conserved Domains (3) summary
    cd00029
    Location:133170
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    pfam16517
    Location:371410
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
    cl00155
    Location:272365
    UBQ; Ubiquitin-like proteins
  2. NM_182664.3NP_872605.1  ras association domain-containing protein 5 isoform B

    See identical proteins and their annotated locations for NP_872605.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform B) is shorter and has a distinct C-terminus, compared to isoform A.
    Source sequence(s)
    AK289861, AK291268, AY062003, BC004270, CD367770
    Consensus CDS
    CCDS1463.1
    UniProtKB/Swiss-Prot
    Q8WWW0
    UniProtKB/TrEMBL
    A8K5F3
    Related
    ENSP00000462544.1, OTTHUMP00000272810, ENST00000580449.5, OTTHUMT00000468960
    Conserved Domains (2) summary
    cd00029
    Location:133170
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cl00155
    Location:272330
    UBQ; Ubiquitin-like proteins
  3. NM_182665.3NP_872606.1  ras association domain-containing protein 5 isoform C

    See identical proteins and their annotated locations for NP_872606.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as transcript B, differs in the 5' UTR, lacks a portion of the 5' coding region, and intiates translation at an alternate start codon, compared to variant 1. The resulting isoform (C), also known as NORE1B, is shorter and has a distinct N-terminus when compared to isoform A.
    Source sequence(s)
    BC004270, BC042651, CD367770, DA370470
    Consensus CDS
    CCDS1464.1
    UniProtKB/Swiss-Prot
    Q8WWW0
    Related
    ENSP00000462576.1, OTTHUMP00000272812, ENST00000577571.5, OTTHUMT00000468962
    Conserved Domains (2) summary
    pfam16517
    Location:218257
    Nore1-SARAH; Novel Ras effector 1 C-terminal SARAH (Sav/Rassf/Hpo) domain
    cl00155
    Location:119212
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    206507530..206589284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_031437.1: Suppressed sequence

    Description
    NM_031437.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Support Center