Aliases for RIC1 Gene

Aliases for RIC1 Gene

  • RIC1 Homolog, RAB6A GEF Complex Partner 1 2 3 5
  • KIAA1432 2 3 4
  • Guanine Nucleotide Exchange Factor Subunit RIC1 3 4
  • Connexin-43-Interacting Protein Of 150 KDa 3 4
  • RAB6A-GEF Complex Partner Protein 1 3 4
  • RAB6A GEF Complex Partner 1 2 3
  • Protein RIC1 Homolog 3 4
  • BA207C16.1 2 3
  • CIP150 3 4
  • Connexin 43-Interacting Protein 150 KDa 3
  • CATIFA 3
  • RIC1 5

External Ids for RIC1 Gene

Previous HGNC Symbols for RIC1 Gene

  • KIAA1432

Previous GeneCards Identifiers for RIC1 Gene

  • GC09P005630
  • GC09P005637
  • GC09P005667
  • GC09P005715

Summaries for RIC1 Gene

GeneCards Summary for RIC1 Gene

RIC1 (RIC1 Homolog, RAB6A GEF Complex Partner 1) is a Protein Coding gene. Diseases associated with RIC1 include Catifa Syndrome and Hodgkin's Lymphoma, Nodular Sclerosis. Among its related pathways are Retrograde transport at the Trans-Golgi-Network and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding and Rab guanyl-nucleotide exchange factor activity.

UniProtKB/Swiss-Prot Summary for RIC1 Gene

  • The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton (PubMed:31932796).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIC1 Gene

Genomics for RIC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RIC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIC1

Genomic Locations for RIC1 Gene

Latest Assembly
chr9:5,629,025-5,778,633
(GRCh38/hg38)
Size:
149,609 bases
Orientation:
Plus strand

Previous Assembly
chr9:5,629,107-5,776,557
(GRCh37/hg19 by Entrez Gene)
Size:
147,451 bases
Orientation:
Plus strand

chr9:5,629,025-5,776,557
(GRCh37/hg19 by Ensembl)
Size:
147,533 bases
Orientation:
Plus strand

Genomic View for RIC1 Gene

Genes around RIC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIC1 Gene

Proteins for RIC1 Gene

  • Protein details for RIC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4ADV7-RIC1_HUMAN
    Recommended name:
    Guanine nucleotide exchange factor subunit RIC1
    Protein Accession:
    Q4ADV7
    Secondary Accessions:
    • B2RN24
    • B7ZM67
    • G5E932
    • Q4VXJ8
    • Q4VXJ9
    • Q76MT5
    • Q8N6E0
    • Q8TEH4
    • Q9H0A5
    • Q9H9S1

    Protein attributes for RIC1 Gene

    Size:
    1423 amino acids
    Molecular mass:
    159301 Da
    Quaternary structure:
    • Forms a complex with RGP1; the interaction enhances RAB6A GTPase activity (PubMed:16112082). Interacts (via central domain) with RGP1 (PubMed:16112082). Interacts with RAB6A; the interaction is direct with a preference for RAB6A-GDP (PubMed:16112082). Interacts (via C-terminus domain) with RAB33B; the interaction is direct with a preference for RAB33B-GTP (PubMed:16112082). Interacts with GJA1 (PubMed:23091056).
    SequenceCaution:
    • Sequence=AAI36617.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI44297.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14150.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAE16982.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB66809.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for RIC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIC1 Gene

Post-translational modifications for RIC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIC1 Gene

Domains & Families for RIC1 Gene

Gene Families for RIC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RIC1 Gene

GenScript: Design optimal peptide antigens:
  • Connexin-43-interacting protein of 150 kDa (RIC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q4ADV7

UniProtKB/Swiss-Prot:

RIC1_HUMAN :
  • Belongs to the RIC1 family.
Family:
  • Belongs to the RIC1 family.
genes like me logo Genes that share domains with RIC1: view

Function for RIC1 Gene

Molecular function for RIC1 Gene

UniProtKB/Swiss-Prot Function:
The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton (PubMed:31932796).

Phenotypes From GWAS Catalog for RIC1 Gene

Gene Ontology (GO) - Molecular Function for RIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IBA,IDA 23091056
GO:0005515 protein binding IPI 23091056
GO:0031267 small GTPase binding IDA 23091056
genes like me logo Genes that share ontologies with RIC1: view
genes like me logo Genes that share phenotypes with RIC1: view

Human Phenotype Ontology for RIC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIC1 Gene

MGI Knock Outs for RIC1:
  • Ric1 Ric1<tm1a(EUCOMM)Hmgu>

miRNA for RIC1 Gene

miRTarBase miRNAs that target RIC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RIC1 Gene

Localization for RIC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIC1 Gene

Cytoplasm, cytosol. Membrane.

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 RIC1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 2
endosome 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 23091056
GO:0032588 trans-Golgi network membrane TAS --
genes like me logo Genes that share ontologies with RIC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIC1 Gene

Pathways & Interactions for RIC1 Gene

genes like me logo Genes that share pathways with RIC1: view

Gene Ontology (GO) - Biological Process for RIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003330 regulation of extracellular matrix constituent secretion IMP 31932796
GO:0006886 intracellular protein transport IBA 21873635
GO:0042147 retrograde transport, endosome to Golgi IBA,IMP 23091056
GO:0043547 positive regulation of GTPase activity IDA 23091056
GO:1903363 negative regulation of cellular protein catabolic process IMP 23091056
genes like me logo Genes that share ontologies with RIC1: view

No data available for SIGNOR curated interactions for RIC1 Gene

Drugs & Compounds for RIC1 Gene

No Compound Related Data Available

Transcripts for RIC1 Gene

mRNA/cDNA for RIC1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIC1

Alternative Splicing Database (ASD) splice patterns (SP) for RIC1 Gene

No ASD Table

Relevant External Links for RIC1 Gene

GeneLoc Exon Structure for
RIC1

Expression for RIC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIC1 Gene

Protein differential expression in normal tissues from HIPED for RIC1 Gene

This gene is overexpressed in Stomach (49.4) and Peripheral blood mononuclear cells (13.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RIC1 Gene



Protein tissue co-expression partners for RIC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIC1

mRNA Expression by UniProt/SwissProt for RIC1 Gene:

Q4ADV7-RIC1_HUMAN
Tissue specificity: Present in kidney and various cell lines (at protein level). Widely expressed at low level.

Evidence on tissue expression from TISSUES for RIC1 Gene

  • Nervous system(4.5)
  • Spleen(4.2)
  • Liver(4.2)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with RIC1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIC1 Gene

Orthologs for RIC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RIC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1432 30
  • 100 (a)
OneToOne
LOC464982 29
  • 99.78 (n)
Cow
(Bos Taurus)
Mammalia KIAA1432 29 30
  • 92.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1432 29 30
  • 90.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA1432 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia C030046E11Rik 29 30
  • 88.96 (n)
OneToOne
Ric1 16
Rat
(Rattus norvegicus)
Mammalia RGD1310016 29
  • 88.96 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 86 (a)
OneToMany
-- 30
  • 81 (a)
OneToMany
Chicken
(Gallus gallus)
Aves KIAA1432 29 30
  • 79.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1432 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1432 29
  • 73.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.23824 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100330980 29
  • 68.08 (n)
KIAA1432 30
  • 48 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rich 29 30
  • 48.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010061 29
  • 47.93 (n)
Worm
(Caenorhabditis elegans)
Secernentea R06F6.8 29 30
  • 44.47 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G61480 29
  • 43.79 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToMany
CSA.4760 30
  • 10 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ric1 29
  • 42.76 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU11228 29
  • 42.39 (n)
Species where no ortholog for RIC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RIC1 Gene

ENSEMBL:
Gene Tree for RIC1 (if available)
TreeFam:
Gene Tree for RIC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIC1: view image
Alliance of Genome Resources:
Additional Orthologs for RIC1

Paralogs for RIC1 Gene

No data available for Paralogs for RIC1 Gene

Variants for RIC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIC1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs192475946 Benign: not provided 5,754,894(+) C/A
NM_020829.4(RIC1):c.1656C>A (p.Val552=)
SYNONYMOUS
rs75782093 Benign: not provided 5,742,888(+) A/G
NM_020829.4(RIC1):c.921A>G (p.Gly307=)
SYNONYMOUS
rs763515150 Pathogenic: Catifa syndrome 5,772,741(+) G/C
NM_020829.4(RIC1):c.3794G>C (p.Arg1265Pro)
MISSENSE
VAR_083541 CATIFA syndrome (CATIFA) [MIM:618761] p.Arg1265Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RIC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RIC1 Gene

Variant ID Type Subtype PubMed ID
dgv1320e199 CNV deletion 23128226
esv2158152 CNV deletion 18987734
esv23270 CNV loss 19812545
esv24276 CNV loss 19812545
esv2543160 CNV deletion 19546169
esv2666049 CNV deletion 23128226
esv2738163 CNV deletion 23290073
esv3268941 CNV deletion 24192839
esv3544465 CNV deletion 23714750
esv3573095 CNV loss 25503493
esv3619384 CNV loss 21293372
esv3619386 CNV loss 21293372
esv3619387 CNV loss 21293372
esv3619388 CNV loss 21293372
esv995651 CNV deletion 20482838
nsv1029665 CNV gain 25217958
nsv1073863 CNV deletion 25765185
nsv1115152 CNV deletion 24896259
nsv613202 CNV loss 21841781
nsv6462 CNV deletion 18451855
nsv824830 CNV gain 20364138
nsv957111 CNV deletion 24416366
nsv972645 CNV duplication 23825009

Variation tolerance for RIC1 Gene

Residual Variation Intolerance Score: 1.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIC1 Gene

Human Gene Mutation Database (HGMD)
RIC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIC1
Leiden Open Variation Database (LOVD)
RIC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIC1 Gene

Disorders for RIC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RIC1 Gene - From: OMI, CVR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
catifa syndrome
  • catifa
hodgkin's lymphoma, nodular sclerosis
  • classical hodgkin lymphoma, nodular sclerosis
cataract
  • cataracts
strabismus
  • strabismus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search RIC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RIC1_HUMAN
  • CATIFA syndrome (CATIFA) [MIM:618761]: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. {ECO:0000269 PubMed:27878435, ECO:0000269 PubMed:31932796}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for RIC1

genes like me logo Genes that share disorders with RIC1: view

No data available for Genatlas for RIC1 Gene

Publications for RIC1 Gene

  1. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. (PMID: 31932796) Unlu G … Knapik EW (Nature medicine 2020) 3 4 72
  2. Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase. (PMID: 23091056) Pusapati GV … Pfeffer SR (The Journal of biological chemistry 2012) 2 3 4
  3. Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. (PMID: 16112082) Akiyama M … Takeya T (Biochemical and biophysical research communications 2005) 3 4 22
  4. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  5. Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract. (PMID: 27878435) Patel N … Alkuraya FS (Human genetics 2017) 4 72

Products for RIC1 Gene

Sources for RIC1 Gene