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RIT1 Ras like without CAAX 1 [ Homo sapiens (human) ]

Gene ID: 6016, updated on 12-Oct-2019

Summary

Official Symbol
RIT1provided by HGNC
Official Full Name
Ras like without CAAX 1provided by HGNC
Primary source
HGNC:HGNC:10023
See related
Ensembl:ENSG00000143622 MIM:609591
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
NS8; RIT; RIBB; ROC1
Summary
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Expression
Ubiquitous expression in bone marrow (RPKM 8.9), esophagus (RPKM 4.8) and 25 other tissues See more
Orthologs

Genomic context

See RIT1 in Genome Data Viewer
Location:
1q22
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155897808..155911349, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155867599..155881193, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gon-4 like Neighboring gene proteasome 26S subunit, non-ATPase 7 pseudogene Neighboring gene synaptotagmin 11 Neighboring gene small nucleolar RNA, H/ACA box 80E Neighboring gene KH domain containing 4, pre-mRNA splicing factor Neighboring gene small Cajal body-specific RNA 4

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
Noonan syndrome 8
MedGen: C3809233 OMIM: 615355 GeneReviews: Noonan Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr The interaction of Vpr with DDB1 facilitates the formation of complexes containing Cul4A-Roc1 E3 ubiquitin ligase. The association of Vpr with DDB1-containing E3 ligase mediates the degradation of UNG2 and SMUG1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
    NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
  • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
    Neurotrophic factor-mediated Trk receptor signaling
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signalling by NGF, organism-specific biosystem (from REACTOME)
    Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
  • Signalling to ERKs, organism-specific biosystem (from REACTOME)
    Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
  • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
    Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
  • Trk receptor signaling mediated by the MAPK pathway, organism-specific biosystem (from Pathway Interaction Database)
    Trk receptor signaling mediated by the MAPK pathway, organism-specific biosystem
    Trk receptor signaling mediated by the MAPK pathway

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125864, MGC125865

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IBA
Inferred from Biological aspect of Ancestor
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 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GTP-binding protein Rit1
Names
GTP-binding protein Roc1
Ric-like, expressed in many tissues
ras-like protein expressed in many tissues
ras-like without CAAX 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_033885.1 RefSeqGene

    Range
    5054..18595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1372

mRNA and Protein(s)

  1. NM_001256820.2NP_001243749.1  GTP-binding protein Rit1 isoform 3

    See identical proteins and their annotated locations for NP_001243749.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences. These difference cause translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK298768, AL139128, BU674989
    Consensus CDS
    CCDS58036.1
    UniProtKB/Swiss-Prot
    Q92963
    Related
    ENSP00000441950.1, ENST00000539040.5
    Conserved Domains (1) summary
    cl21455
    Location:1155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001256821.2NP_001243750.1  GTP-binding protein Rit1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL139128, AL355388, BI916790, BQ918446, BU674989
    Consensus CDS
    CCDS58037.1
    UniProtKB/Swiss-Prot
    Q92963
    Related
    ENSP00000357305.3, ENST00000368322.7
    Conserved Domains (2) summary
    smart00010
    Location:37202
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04141
    Location:37208
    Rit_Rin_Ric; Ras-like protein in all tissues (Rit), Ras-like protein in neurons (Rin) and Ras-related protein which interacts with calmodulin (Ric)
  3. NM_006912.6NP_008843.1  GTP-binding protein Rit1 isoform 2

    See identical proteins and their annotated locations for NP_008843.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences. These difference cause translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 2.
    Source sequence(s)
    AK298768, AL139128, AL355388, BC104186, BU674989
    Consensus CDS
    CCDS1123.1
    UniProtKB/Swiss-Prot
    Q92963
    Related
    ENSP00000357306.3, ENST00000368323.8
    Conserved Domains (1) summary
    cd04141
    Location:20191
    Rit_Rin_Ric; Ras-like protein in all tissues (Rit), Ras-like protein in neurons (Rin) and Ras-related protein which interacts with calmodulin (Ric)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    155897808..155911349 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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