RAPH1 - Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 Gene

Homo sapiens

Also known as LPD; RMO1; PREL2; PREL-2; ALS2CR9; ALS2CR18; RalGDS/AF-6

Gene ID: 65059 | Gene type: protein coding

About RAPH1

Cytogenetic location: 2q33.2 Genomic coordinates (GRCh38): 2:203,433,682-203,535,301 (from NCBI)

This gene has 13 transcripts (splice variants), 200 orthologues and 4 paralogues. Ubiquitous expression in thyroid (RPKM 14.2), liver (RPKM 12.2) and 23 other tissues.

Summary

This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

RAPH1 Products(3)

mRNA	Protein	Name
NM_001329728.2	NP_001316657.1	ras-associated and pleckstrin homology domains-containing protein 1 isoform 4
NM_203365.4	NP_976241.1	ras-associated and pleckstrin homology domains-containing protein 1 isoform 3
NM_213589.3	NP_998754.1	ras-associated and pleckstrin homology domains-containing protein 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24076656	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RAPH1 Protein Structure

0
200
400
600
800
1000
1250 a.a.

Protein Preferred Names

Protein Names

ras-associated and pleckstrin homology domains-containing protein 1

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18

RAPH1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RAPH1	Q70E73	EGFR	Homo sapiens	P00533	Anti Bait CoIP	24076656
Intra	RAPH1	Q70E73	SH3GL3	Homo sapiens	Q99963	Far-WB	24076656
Intra	RAPH1	Q70E73	SH3GL3	Homo sapiens	Q99963	Protein Array	24076656
Intra	RAPH1	Q70E73	SH3GL2	Homo sapiens	Q99962	Protein Array	24076656
Intra	RAPH1	Q70E73	SH3GL2	Homo sapiens	Q99962	Far-WB	24076656
Intra	RAPH1	Q70E73	SH3GL2	Homo sapiens	Q99962	IF	24076656
Cross	RAPH1	Q70E73	Sh3gl1	Rattus norvegicus	O35964	Peptide Array	24076656

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Amyotrophic Lateral Sclerosis 2, Juvenile

ALS2	Als, Juvenile
Alsj	Amyotrophic Lateral Sclerosis Type 2
Amyotrophic Lateral Sclerosis 2	Amyotrophic Lateral Sclerosis Type 2, Juvenile
Amyotrophic Lateral Sclerosis Juvenile	Amyotrophic Lateral Sclerosis Juvenile 2
Sclerosis, Lateral, Amyotrophic, Type Type 2

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11667	RAPH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RAPH1	VGNC	VGNC:80337
Mus musculus	RAPH1	MGD	MGI:1924550
Rattus norvegicus	RAPH1	RGD	RGD:1308387
Bos taurus	RAPH1	VGNC	VGNC:54621
Macaca mulatta	RAPH1	VGNC	VGNC:99397

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