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RHEBL1 RHEB like 1 [ Homo sapiens (human) ]

Gene ID: 121268, updated on 11-Jun-2021

Summary

Official Symbol
RHEBL1provided by HGNC
Official Full Name
RHEB like 1provided by HGNC
Primary source
HGNC:HGNC:21166
See related
Ensembl:ENSG00000167550 MIM:618956
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RHEBL1c
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See RHEBL1 in Genome Data Viewer
Location:
12q13.12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49064676..49069979, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49458459..49463762, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DDN and PRKAG1 antisense RNA 1 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene lysine methyltransferase 2D Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene desert hedgehog signaling molecule Neighboring gene limb development membrane protein 1 like

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25797, MGC34869

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in small GTPase mediated signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GTPase RhebL1
Names
Ras homolog enriched in brain like 1 c
ras homolog enriched in brain like-1 c
ras homolog enriched in brain-like protein 1
rheb-like protein 1
rheb2

NCBI Reference Sequences (RefSeq)

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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_001303126.2NP_001290055.1  GTPase RhebL1 isoform 2

    See identical proteins and their annotated locations for NP_001290055.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end of the coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AI917432, AY327412, AY509932
    UniProtKB/Swiss-Prot
    Q8TAI7
    Conserved Domains (1) summary
    cd04137
    Location:16181
    RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase
  2. NM_144593.3NP_653194.1  GTPase RhebL1 isoform 1

    See identical proteins and their annotated locations for NP_653194.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI917432, AY327412
    Consensus CDS
    CCDS8778.1
    UniProtKB/Swiss-Prot
    Q8TAI7
    Related
    ENSP00000301068.6, ENST00000301068.11
    Conserved Domains (2) summary
    smart00010
    Location:5169
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04137
    Location:6183
    RheB; Ras Homolog Enriched in Brain (RheB) is a small GTPase

RNA

  1. NR_130123.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI917432, AY327412, BC014155
    Related
    ENST00000420065.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49064676..49069979 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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