Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
65059
Gene name Gene Name - the full gene name approved by the HGNC.
Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAPH1
Synonyms (NCBI Gene) Gene synonyms aliases
ALS2CR18, ALS2CR9, LPD, PREL-2, PREL2, RMO1, RalGDS/AF-6
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 pro
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016068 hsa-miR-374b-5p Sequencing 20371350
MIRT019271 hsa-miR-148b-3p Microarray 17612493
MIRT030690 hsa-miR-21-5p Microarray 18591254
MIRT045331 hsa-miR-185-5p CLASH 23622248
MIRT045080 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24076656, 25517094
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609035 14436 ENSG00000173166
Protein
UniProt ID Q70E73
Protein name Ras-associated and pleckstrin homology domains-containing protein 1 (RAPH1) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein) (Lamellipodin) (Prolin
Protein function Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion.
PDB 4GMV , 4GN1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00788 RA 269 372 Ras association (RalGDS/AF-6) domain Domain
PF00169 PH 397 505 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform RMO1-RAPH1 is ubiquitously expressed with highest levels in brain, heart, ovary and developing embryo. Isoform RMO1 is widely expressed with highest levels in liver. Low expression in B-cells. {ECO:0000269|PubMed:15469845, ECO:
Sequence
MEQLSDEEIDHGAEEDSDKEDQDLDKMFGAWLGELDKLTQSLDSDKPMEPVKRSPLRQET
NMANFSYRFSIYNLNEALNQGETVDLDALMADLCSIEQELSSIGSGNSKRQITETKATQK
LPVSRHTLKHGTLKGLSSSSNRIAKPSHASYSLDDVTAQLEQASLSMDEAAQQSVLEDTK
PLVTNQHRRTASAGTVSDAEVHSISNSSHSSITSAASSMDSLDIDKVTRPQELDLTHQGQ
PITEEEQAAKLKAEKIRVALEKIKEAQVKKLVIRVHMSDDSSKTMMVDERQTVRQVLDNL
MDKSHCGYSLDWSLVETVSELQMERIFEDHENLVENLLNWTRDSQNKLIFMERIEKYALF
KNPQNYLLGKKE
TAEMADRNKEVLLEECFCGSSVTVPEIEGVLWLKDDGKKSWKKRYFLL
RASGIYYVPKGKAKVSRDLVCFLQLDHVNVYYGQDYRNKYKAPTDYCLVLKHPQIQKKSQ
YIKYLCCDDVRTLHQWVNGIRIAKY
GKQLYMNYQEALKRTESAYDWTSLSSSSIKSGSSS
SSIPESQSNHSNQSDSGVSDTQPAGHVRSQSIVSSVFSEAWKRGTQLEESSKARMESMNR
PYTSLVPPLSPQPKIVTPYTASQPSPPLPPPPPPPPPPPPPPPPPPPPLPSQSAPSAGSA
APMFVKYSTITRLQNASQHSGALFKPPTPPVMQSQSVKPQILVPPNGVVPPPPPPPPPPT
PGSAMAQLKPAPCAPSLPQFSAPPPPLKIHQVQHITQVAPPTPPPPPPIPAPLPPQAPPK
PLVTIPAPTSTKTVAPVVTQAAPPTPTPPVPPAKKQPAFPASYIPPSPPTPPVPVPPPTL
PKQQSFCAKPPPSPLSPVPSVVKQIASQFPPPPTPPAMESQPLKPVPANVAPQSPPAVKA
KPKWQPSSIPVPSPDFPPPPPESSLVFPPPPPSPVPAPPPPPPPTASPTPDKSGSPGKKT
SKTSSPGGKKPPPTPQRNSSIKSSSGAEHPEPKRPSVDSLVSKFTPPAESGSPSKETLPP
PAAPPKPGKLNLSGVNLPGVLQQGCVSAKAPVLSGRGKDSVVEFPSPPSDSDFPPPPPET
ELPLPPIEIPAVFSGNTSPKVAVVNPQPQQWSKMSVKKAPPPTRPKRNDSTRLTQAEISE
QPTMATVVPQVPTSPKSSLSVQPGFLADLNRTLQRKSITRHGSLSSRMSRAEPTATMDDM
ALPPPPPELLSDQQKAGYGGSHISGYATLRRGPPPAPPKRDQNTKLSRDW
Sequence length 1250
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 30664745
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 25226551 ClinVar
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Myocardial Infarction Myocardial Infarction GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 38062011
Neoplasm Metastasis Associate 37378426
Neoplasms Stimulate 38062011
Prostatic Neoplasms Associate 37378426
Triple Negative Breast Neoplasms Associate 38062011
Weight Gain Associate 33550919