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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 65059

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
Molecular Function GO Annotation Evidence Verweise 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

RA

RA: Ras association (RalGDS/AF-6) domain (270 - 353)

PH

PH: PH domain (398 - 502)

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  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
RAPH1 Q70E73 EGFR Homo sapiens P00533 24076656
Intra
RAPH1 Q70E73 SH3GL3 Homo sapiens Q99963 24076656
Intra
RAPH1 Q70E73 SH3GL3 Homo sapiens Q99963 24076656
Intra
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962 24076656
Intra
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962 24076656
Intra
RAPH1 Q70E73 SH3GL2 Homo sapiens Q99962
IF
24076656
Cross
RAPH1 Q70E73 Sh3gl1 Rattus norvegicus O35964 24076656
Cross: Cross-species interaction Intra: Intraspecies interaction

RAPH1 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P810017 Lamellipodin Antibody (YA9361) WB, ICC/IF, IF-Tissue, IP, ELISA human

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

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
Others RAPH1 NCBI