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RASGEF1B RasGEF domain family member 1B [ Homo sapiens (human) ]

Gene ID: 153020, updated on 5-Aug-2022

Summary

Official Symbol
RASGEF1Bprovided by HGNC
Official Full Name
RasGEF domain family member 1Bprovided by HGNC
Primary source
HGNC:HGNC:24881
See related
Ensembl:ENSG00000138670 MIM:614532; AllianceGenome:HGNC:24881
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
GPIG4
Summary
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity and small GTPase mediated signal transduction. Predicted to be located in early endosome; late endosome; and midbody. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.3) and 24 other tissues See more
Orthologs
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Genomic context

See RASGEF1B in Genome Data Viewer
Location:
4q21.21
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (81426393..81471907, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (84756088..84801612, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (82347547..82393061, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene protein kinase cGMP-dependent 2 Neighboring gene uncharacterized LOC124900726 Neighboring gene RNA, U5A small nuclear 2, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8336 Neighboring gene uncharacterized LOC105377306 Neighboring gene Sharpr-MPRA regulatory region 9952

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

EBI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ31695, MGC46251

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in late endosome IEA
Inferred from Electronic Annotation
more info
 
located_in midbody 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
ras-GEF domain-containing family member 1B
Names
GPI gamma-4

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_001300735.2NP_001287664.1  ras-GEF domain-containing family member 1B isoform 2

    See identical proteins and their annotated locations for NP_001287664.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC006287, BC121003, DR002387
    Consensus CDS
    CCDS75152.1
    UniProtKB/Swiss-Prot
    Q0VAM2
    Related
    ENSP00000425393.1, ENST00000509081.5
    Conserved Domains (2) summary
    cd06224
    Location:42166
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00147
    Location:202453
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
  2. NM_001300736.2NP_001287665.1  ras-GEF domain-containing family member 1B isoform 3

    See identical proteins and their annotated locations for NP_001287665.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AC006287, BC121004, DR002387
    Consensus CDS
    CCDS75151.1
    UniProtKB/Swiss-Prot
    Q0VAM2
    Related
    ENSP00000338437.7, ENST00000335927.11
    Conserved Domains (2) summary
    pfam00617
    Location:167360
    RasGEF; RasGEF domain
    cl02520
    Location:43125
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
  3. NM_152545.3NP_689758.1  ras-GEF domain-containing family member 1B isoform 1

    See identical proteins and their annotated locations for NP_689758.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC006287, AK056257
    Consensus CDS
    CCDS34022.1
    UniProtKB/Swiss-Prot
    Q0VAM2, Q96MY8
    Related
    ENSP00000264400.2, ENST00000264400.7
    Conserved Domains (2) summary
    cd06224
    Location:42167
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    pfam00617
    Location:209403
    RasGEF; RasGEF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    81426393..81471907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    84756088..84801612 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)