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RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [ Homo sapiens (human) ]

Gene ID: 65059, updated on 4-Jul-2021

Summary

Official Symbol
RAPH1provided by HGNC
Official Full Name
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1provided by HGNC
Primary source
HGNC:HGNC:14436
See related
Ensembl:ENSG00000173166 MIM:609035
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LPD; RMO1; PREL2; PREL-2; ALS2CR9; ALS2CR18; RalGDS/AF-6
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]
Expression
Ubiquitous expression in thyroid (RPKM 14.2), liver (RPKM 12.2) and 23 other tissues See more
Orthologs
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Genomic context

See RAPH1 in Genome Data Viewer
Location:
2q33.2
Exon count:
19
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (203433682..203535322, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (204298405..204400024, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L50 pseudogene 2 Neighboring gene abl interactor 2 Neighboring gene tRNA-Glu (anticodon TTC) 9-1 Neighboring gene zinc finger protein 207 pseudogene Neighboring gene NDUFA4, mitochondrial complex associated pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1681

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in axon extension IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ras-associated and pleckstrin homology domains-containing protein 1
Names
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9
lamellipodin
proline-rich EVH1 ligand 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001329728.2NP_001316657.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC018891
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  2. NM_203365.4NP_976241.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_976241.1

    Status: REVIEWED

    Source sequence(s)
    AC018891, AI217860, AY523978, BE967038
    Consensus CDS
    CCDS2360.1
    UniProtKB/Swiss-Prot
    Q70E73
    Related
    ENSP00000311293.4, ENST00000308091.8
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  3. NM_213589.3NP_998754.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_998754.1

    Status: REVIEWED

    Source sequence(s)
    AC018891, AI217860, AJ584699, AY494951, CA503229
    Consensus CDS
    CCDS2359.1
    UniProtKB/Swiss-Prot
    Q70E73
    Related
    ENSP00000316543.5, ENST00000319170.10
    Conserved Domains (3) summary
    cd01259
    Location:392514
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:397505
    PH; PH domain
    cl00155
    Location:269350
    UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    203433682..203535322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511646.3XP_011509948.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011509948.1

    UniProtKB/TrEMBL
    C9K0J5
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  2. XM_005246777.4XP_005246834.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005246834.1

    UniProtKB/TrEMBL
    C9K0J5
    Related
    ENSP00000486548.1, ENST00000630330.2
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  3. XM_005246779.4XP_005246836.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005246836.1

    UniProtKB/TrEMBL
    C9K0J5
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  4. XM_006712695.3XP_006712758.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006712758.1

    UniProtKB/TrEMBL
    C9K0J5
    Conserved Domains (3) summary
    cd01259
    Location:444566
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:449557
    PH; PH domain
    cl00155
    Location:321402
    UBQ; Ubiquitin-like proteins
  5. XM_011511648.1XP_011509950.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X3

    Conserved Domains (3) summary
    cd01259
    Location:417539
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:422530
    PH; PH domain
    cl00155
    Location:294375
    UBQ; Ubiquitin-like proteins
  6. XM_011511647.1XP_011509949.1  ras-associated and pleckstrin homology domains-containing protein 1 isoform X2

    Conserved Domains (3) summary
    cd01259
    Location:419541
    PH_APBB1IP; Amyloid beta (A4) Precursor protein-Binding, family B, member 1 Interacting Protein pleckstrin homology (PH) domain
    pfam00169
    Location:424532
    PH; PH domain
    cl00155
    Location:296377
    UBQ; Ubiquitin-like proteins

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_051287.1: Suppressed sequence

    Description
    NG_051287.1: This RefSeq was removed by NCBI staff. Please email info@ncbi.nlm.nih.gov for more information.
  2. NM_025252.3: Suppressed sequence

    Description
    NM_025252.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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