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  2. RASGEF1B - RasGEF domain family member 1B Gene

RASGEF1B - RasGEF domain family member 1B Gene

Homo sapiens

Also known as GPIG4

Gene ID: 153020 | Gene type: protein coding

About RASGEF1B

Cytogenetic location: 4q21.21 Genomic coordinates (GRCh38): 4:81,426,393-81,471,907 (from NCBI)

This gene has 13 transcripts (splice variants), 281 orthologues and 24 paralogues. Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.3) and 24 other tissues.

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]

RASGEF1B Products(3)

mRNA Protein Name
NM_001300735.2 NP_001287664.1 ras-GEF domain-containing family member 1B isoform 2
NM_001300736.2 NP_001287665.1 ras-GEF domain-containing family member 1B isoform 3
NM_152545.3 NP_689758.1 ras-GEF domain-containing family member 1B isoform 1

RASGEF1B Protein Structure

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (39 - 135)

RasGEF

RasGEF: RasGEF domain (205 - 403)

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  • 473 a.a.
Protein Preferred Names Protein Names

ras-GEF domain-containing family member 1B

GPI gamma-4

Related Diseases

Diseases Alias
Dystonia 24

DYT24

Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement

Dystonia-24

Dystonia, Type 24

Chromosome 4q21 Deletion Syndrome

4q21 Microdeletion Syndrome

Monosomy 4q21

Del(4)(Q21)

Chromosome Deletion Syndrome 4q21

Malignant Hemangioma
Ileum Cancer

Ileal Neoplasm

Malignant Neoplasm Of Ileum

Ileal Cancer

Ileal Neoplasms

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris RASGEF1B VGNC VGNC:45368
Felis catus RASGEF1B VGNC VGNC:64500
Macaca mulatta RASGEF1B VGNC VGNC:76532
Mus musculus RASGEF1B MGD MGI:2443755
Bos taurus RASGEF1B VGNC VGNC:33744
Rattus norvegicus RASGEF1B RGD RGD:1562220