Basic Information

Symbol
RAPH1
RNA class
mRNA
Alias
Ras Association (RalGDS/AF-6) And Pleckstrin Homology Domains 1 KIAA1681 ALS2CR18 ALS2CR9 Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 18 Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 9 Ras-Associated And Pleckstrin Homology Domains-Containing Protein 1 Proline-Rich EVH1 Ligand 2 Lamellipodin PREL-2 PREL2 RMO1 LPD Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 18 Protein Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 9 Protein Protein RMO1 RalGDS/AF-6
Location (GRCh38)
2:203394345-203535451
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Forensic psychiatry evaluation Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_213589.3
Sequence length
9699.0 nt
GC content
0.4305

Transcripts

ID Sequence Length GC content
NM_001329728.2 NCBI
CCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCACUGAGC… 3328 nt 0.4525
NM_203365.4 NCBI
CCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCACUGAGC… 2735 nt 0.4644
NM_213589.3 NCBI
CCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCAGUCACUGAGC… 9699 nt 0.4305
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]

Forensic Context

A single-nucleus transcriptomics study in human postmortem brain tissue identified the RAPH1 as a protein-coding gene downregulated in microglia (MGL) within the nucleus accumbens of individuals with alcohol use disorder (AUD) [Van Den Oord et al. DOI:10.1111/Adb.13250].