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Aliases for RIPOR1 Gene

Aliases for RIPOR1 Gene

  • RHO Family Interacting Cell Polarization Regulator 1 2 3 5
  • Family With Sequence Similarity 65 Member A 2 3
  • FAM65A 3 4
  • Rho Family-Interacting Cell Polarization Regulator 1 3
  • Family With Sequence Similarity 65, Member A 2
  • Protein FAM65A 3
  • KIAA1930 4

External Ids for RIPOR1 Gene

Previous HGNC Symbols for RIPOR1 Gene

  • FAM65A

Summaries for RIPOR1 Gene

GeneCards Summary for RIPOR1 Gene

RIPOR1 (RHO Family Interacting Cell Polarization Regulator 1) is a Protein Coding gene. Diseases associated with RIPOR1 include Cerebral Cavernous Malformations 3 and Central Nervous System Hemangioma. An important paralog of this gene is RIPOR2.

UniProtKB/Swiss-Prot for RIPOR1 Gene

  • Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006).

Additional gene information for RIPOR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPOR1 Gene

Genomics for RIPOR1 Gene

GeneHancer (GH) Regulatory Elements for RIPOR1 Gene

Promoters and enhancers for RIPOR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J067514 Enhancer 1.3 Ensembl ENCODE dbSUPER 650.7 -1.5 -1469 5.5 HDGF PKNOX1 ATF1 FOXA2 ARID4B IRF4 ZNF48 ZNF143 FOS ATF7 RIPOR1 ATP6V0D1 HSD11B2 LRRC36 CES2 GC16M067517 LOC100505942 GC16M067502
GH16J067479 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.7 -36.4 -36366 5 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ATP6V0D1 LOC101927837 ZDHHC1 ENKD1 NAE1 EDC4 CENPT CTCF SLC7A6OS E2F4
GH16J067545 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.4 +29.7 29671 5.3 HDGF CLOCK ARNT ARID4B SIN3A ZNF2 YY1 ARID2 ZNF143 RUNX3 HSD11B2 CARMIL2 ATP6V0D1 RIPOR1 PARD6A ACD ENSG00000237718 C16orf86 ENKD1 DPEP2
GH16J067239 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.4 -273.7 -273684 10.3 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 FHOD1 SLC9A5 ATP6V0D1 RN7SKP118 DPEP2NB ELMO3 C16orf86 NAE1 CENPT EDC4
GH16J067555 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.4 +37.9 37890 2 ZNF493 ZFP64 ZNF121 ZNF213 KLF7 FOS ZNF202 ZC3H11A REST ZNF623 EDC4 CENPT ENSG00000260465 ZDHHC1 CTCF ENKD1 E2F4 ENSG00000263276 ENSG00000270165 NAE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIPOR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RIPOR1 Gene

Genomic Locations for RIPOR1 Gene
chr16:67,518,418-67,546,788
(GRCh38/hg38)
Size:
28,371 bases
Orientation:
Plus strand
chr16:67,552,321-67,580,691
(GRCh37/hg19)
Size:
28,371 bases
Orientation:
Plus strand

Genomic View for RIPOR1 Gene

Genes around RIPOR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIPOR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPOR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIPOR1 Gene

Proteins for RIPOR1 Gene

  • Protein details for RIPOR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZS17-RIPR1_HUMAN
    Recommended name:
    Rho family-interacting cell polarization regulator 1
    Protein Accession:
    Q6ZS17
    Secondary Accessions:
    • B4DEQ9
    • B4DIM2
    • E9PBS3
    • Q4G0A4
    • Q7Z5R7
    • Q8NDA4
    • Q96J39
    • Q96PV8
    • Q9H8D9

    Protein attributes for RIPOR1 Gene

    Size:
    1223 amino acids
    Molecular mass:
    132308 Da
    Quaternary structure:
    • Interacts (via N-terminus) with RHOA (GTP-bound form); this interaction links active RHOA to STK24 and STK26 kinases (PubMed:27807006). Interacts with RHOB (PubMed:27807006). Interacts with RHOC (PubMed:27807006). Interacts (via C-terminus) with PDCD10; this interaction occurs in a Rho-independent manner (PubMed:27807006). Interacts (via C-terminus) with STK24; this interaction occurs in a PDCD10-dependent and Rho-independent manner (PubMed:27807006). Interacts (via C-terminus) with STK26; this interaction occurs in a PDCD10-dependent and Rho-independent manner (PubMed:27807006). Interacts (via N-terminus) with 14-3-3 proteins; these interactions occur in a Rho-dependent manner (PubMed:27807006).
    SequenceCaution:
    • Sequence=BAB14678.1; Type=Erroneous termination; Positions=256; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=BAB67823.1; Type=Frameshift; Positions=579; Evidence={ECO:0000305};

    Alternative splice isoforms for RIPOR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPOR1 Gene

Post-translational modifications for RIPOR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIPOR1 Gene

Domains & Families for RIPOR1 Gene

Gene Families for RIPOR1 Gene

Protein Domains for RIPOR1 Gene

Suggested Antigen Peptide Sequences for RIPOR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZS17

UniProtKB/Swiss-Prot:

RIPR1_HUMAN :
  • Belongs to the RIPOR family.
Family:
  • Belongs to the RIPOR family.
genes like me logo Genes that share domains with RIPOR1: view

Function for RIPOR1 Gene

Molecular function for RIPOR1 Gene

UniProtKB/Swiss-Prot Function:
Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006).

Phenotypes From GWAS Catalog for RIPOR1 Gene

Gene Ontology (GO) - Molecular Function for RIPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27807006
GO:0071889 14-3-3 protein binding IDA 27807006
genes like me logo Genes that share ontologies with RIPOR1: view
genes like me logo Genes that share phenotypes with RIPOR1: view

Animal Model Products

miRNA for RIPOR1 Gene

miRTarBase miRNAs that target RIPOR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RIPOR1 Gene

Localization for RIPOR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPOR1 Gene

Cytoplasm. Golgi apparatus. Note=Localizes to the podocyte major processes and cell body (By similarity). Colocalized with STK26 in the Golgi of serum-starved cells and relocated to cytoplasmic punctae, probably vesicular compartments, along with STK26 upon serum stimulation in a Rho- and PDCD10-dependent manner (PubMed:27807006). {ECO:0000250 UniProtKB:Q68FE6, ECO:0000269 PubMed:27807006}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIPOR1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
cytosol 3
mitochondrion 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus IEA,IDA 27807006
GO:0012506 vesicle membrane TAS 27807006
GO:0016020 membrane IDA 27807006
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with RIPOR1: view

Pathways & Interactions for RIPOR1 Gene

SuperPathways for RIPOR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIPOR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IMP 27807006
GO:0009267 cellular response to starvation IMP 27807006
GO:0009611 response to wounding IMP 27807006
GO:0030335 positive regulation of cell migration IMP 27807006
GO:0034067 protein localization to Golgi apparatus IMP 27807006
genes like me logo Genes that share ontologies with RIPOR1: view

No data available for Pathways by source and SIGNOR curated interactions for RIPOR1 Gene

Drugs & Compounds for RIPOR1 Gene

No Compound Related Data Available

Transcripts for RIPOR1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIPOR1 Gene

No ASD Table

Relevant External Links for RIPOR1 Gene

GeneLoc Exon Structure for
RIPOR1
ECgene alternative splicing isoforms for
RIPOR1

Expression for RIPOR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of RIPOR1 Gene:

RIPOR1

Evidence on tissue expression from TISSUES for RIPOR1 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RIPOR1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPOR1 Gene

Orthologs for RIPOR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIPOR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM65A 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM65A 34 33
  • 87.34 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM65A 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam65a 33
  • 83.01 (n)
mouse
(Mus musculus)
Mammalia Fam65a 34 33
  • 82.77 (n)
OneToOne
Ripor1 16
oppossum
(Monodelphis domestica)
Mammalia FAM65A 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM65A 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM65A 34 33
  • 70.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM65A 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam65a 33
  • 61.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20882 33
zebrafish
(Danio rerio)
Actinopterygii fam65a 34 33
  • 63.99 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27H2.2 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for RIPOR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RIPOR1 Gene

ENSEMBL:
Gene Tree for RIPOR1 (if available)
TreeFam:
Gene Tree for RIPOR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIPOR1: view image

Paralogs for RIPOR1 Gene

Paralogs for RIPOR1 Gene

genes like me logo Genes that share paralogs with RIPOR1: view

Variants for RIPOR1 Gene

Sequence variations from dbSNP and Humsavar for RIPOR1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000190522 -- 67,532,917(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000329784 -- 67,536,829(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000458619 -- 67,529,648(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000510276 -- 67,531,427(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000578530 -- 67,531,896(+) T/C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RIPOR1 Gene

Variant ID Type Subtype PubMed ID
esv29734 CNV loss 19812545
esv3329286 CNV insertion 20981092
esv3638889 CNV loss 21293372
nsv522852 CNV gain 19592680
nsv524363 CNV loss 19592680
nsv827711 CNV gain 20364138
nsv833266 CNV loss 17160897

Variation tolerance for RIPOR1 Gene

Residual Variation Intolerance Score: 8.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.20; 69.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIPOR1 Gene

Human Gene Mutation Database (HGMD)
RIPOR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPOR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPOR1 Gene

Disorders for RIPOR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RIPOR1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cerebral cavernous malformations 3
  • ccm3
central nervous system hemangioma
  • hemangioma of cns
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RIPOR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIPOR1 Gene

Publications for RIPOR1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
  2. RHO binding to FAM65A regulates Golgi reorientation during cell migration. (PMID: 27807006) Mardakheh FK … Marshall CJ (Journal of cell science 2016) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for RIPOR1 Gene

Sources for RIPOR1 Gene

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