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    RIC1 RIC1 homolog, RAB6A GEF complex partner 1 [ Homo sapiens (human) ]

    Gene ID: 57589, updated on 9-Dec-2024

    Summary

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    Official Symbol
    RIC1provided by HGNC
    Official Full Name
    RIC1 homolog, RAB6A GEF complex partner 1provided by HGNC
    Primary source
    HGNC:HGNC:17686
    See related
    Ensembl:ENSG00000107036 MIM:610354; AllianceGenome:HGNC:17686
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CATIFA; CIP150; KIAA1432; bA207C16.1
    Summary
    Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.0), testis (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIC1 in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5629107..5778633)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5634236..5782557)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5629107..5776557)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28161 Neighboring gene uncharacterized LOC124902114 Neighboring gene Sharpr-MPRA regulatory region 9164 Neighboring gene OCT4 hESC enhancer GRCh37_chr9:5482138-5482639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28165 Neighboring gene Sharpr-MPRA regulatory region 6415 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:5501887-5502388 Neighboring gene CD274 molecule Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5509079-5510278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28170 Neighboring gene programmed cell death 1 ligand 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5629427-5629927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28176 Neighboring gene uncharacterized LOC124902115 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:5762408-5763607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19755 Neighboring gene endoplasmic reticulum metallopeptidase 1 Neighboring gene Sharpr-MPRA regulatory region 2314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5879621-5880122 Neighboring gene small nucleolar RNA U13 Neighboring gene adenylate kinase 4 pseudogene 4 Neighboring gene bromodomain containing 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-wide identification of genes with amplification and/or fusion in small cell lung cancer. Iwakawa R, et al. Genes Chromosomes Cancer, 2013 Sep. PMID 23716474, Free PMC Article
    2. Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150. Akiyama M, et al. Biochem Biophys Res Commun, 2005 Oct 7. PMID 16112082
    3. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Unlu G, et al. Nat Med, 2020 Jan. PMID 31932796, Free PMC Article
    4. Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes. Lansdon LA, et al. Am J Hum Genet, 2023 Jan 5. PMID 36493769, Free PMC Article
    5. Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase. Pusapati GV, et al. J Biol Chem, 2012 Dec 7. PMID 23091056, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
      Title: Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
    2. reduced genetically determined expression of RIC1 is associated with musculoskeletal and dental conditions.
      Title: Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies.
    3. KIAA1432 is a novel gene activated by amplification in Small Cell Lung Cancers.
      Title: Genome-wide identification of genes with amplification and/or fusion in small cell lung cancer.
    4. These results suggest that the newly identified domain is essential for the proper phosphorylation and localization of Cx43, and CIP150 is a novel partner protein targeting this domain.
      Title: Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Catifa syndrome
    MedGen: C5231492 OMIM: 618761 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12580, KIAA1432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cranial skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of extracellular matrix constituent secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Ric1-Rgp1 guanyl-nucleotide exchange factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Ric1-Rgp1 guanyl-nucleotide exchange factor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide exchange factor subunit RIC1
    Names
    RAB6A GEF complex partner 1
    RAB6A-GEF complex partner protein 1
    connexin 43-interacting protein 150 kDa
    connexin-43-interacting protein of 150 kDa
    protein RIC1 homolog

    NCBI Reference Sequences (RefSeq)

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    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_001135920.4 → NP_001129392.2  guanine nucleotide exchange factor subunit RIC1 isoform b

      See identical proteins and their annotated locations for NP_001129392.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AL136875, AL136980, AL354744
      Consensus CDS
      CCDS47949.2
      UniProtKB/Swiss-Prot
      Q4ADV7
      Related
      ENSP00000251879.6, ENST00000251879.10
      Conserved Domains (1) summary
      pfam07064
      Location:733 → 990
      RIC1; RIC1

    2. NM_001206557.2 → NP_001193486.1  guanine nucleotide exchange factor subunit RIC1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks and in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform c), compared to isoform a.
      Source sequence(s)
      AA250979, AL136875, AL136980, AL354744, BC144296
      Consensus CDS
      CCDS75811.1
      UniProtKB/TrEMBL
      H0YFN7
      Related
      ENSP00000402240.4, ENST00000418622.7
      Conserved Domains (1) summary
      pfam07064
      Location:696 → 953
      RIC1; RIC1

    3. NM_020829.4 → NP_065880.2  guanine nucleotide exchange factor subunit RIC1 isoform a

      See identical proteins and their annotated locations for NP_065880.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AA250979, AL136875, AL136980, AL354744, BC136616
      Consensus CDS
      CCDS34982.2
      UniProtKB/Swiss-Prot
      B2RN24, B7ZM67, G5E932, Q4ADV7, Q4VXJ8, Q4VXJ9, Q76MT5, Q8N6E0, Q8TEH4, Q9H0A5, Q9H9S1
      UniProtKB/TrEMBL
      H0YFN7
      Related
      ENSP00000416696.2, ENST00000414202.7
      Conserved Domains (1) summary
      pfam07064
      Location:733 → 989
      RIC1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      5629107..5778633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251523.4 → XP_005251580.1  guanine nucleotide exchange factor subunit RIC1 isoform X1

      See identical proteins and their annotated locations for XP_005251580.1

      UniProtKB/TrEMBL
      H0YFN7
      Conserved Domains (1) summary
      pfam07064
      Location:732 → 989
      RIC1; RIC1

    2. XM_047423609.1 → XP_047279565.1  guanine nucleotide exchange factor subunit RIC1 isoform X2

      UniProtKB/TrEMBL
      H0YFN7

    3. XM_017014936.2 → XP_016870425.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    4. XM_017014934.2 → XP_016870423.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    5. XM_017014935.2 → XP_016870424.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    6. XM_047423610.1 → XP_047279566.1  guanine nucleotide exchange factor subunit RIC1 isoform X4

      UniProtKB/TrEMBL
      H0YFN7

    7. XM_011517967.3 → XP_011516269.1  guanine nucleotide exchange factor subunit RIC1 isoform X5

      UniProtKB/TrEMBL
      H0YFN7
      Conserved Domains (1) summary
      pfam07064
      Location:422 → 679
      RIC1; RIC1

    8. XM_047423611.1 → XP_047279567.1  guanine nucleotide exchange factor subunit RIC1 isoform X6

    9. XM_011517968.3 → XP_011516270.1  guanine nucleotide exchange factor subunit RIC1 isoform X6

      Conserved Domains (1) summary
      pfam07064
      Location:196 → 453
      RIC1; RIC1

    RNA

    1. XR_428426.4 RNA Sequence

    2. XR_007061331.1 RNA Sequence

    3. XR_007061330.1 RNA Sequence

    4. XR_007061332.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      5634236..5782557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363329.1 → XP_054219304.1  guanine nucleotide exchange factor subunit RIC1 isoform X1

      UniProtKB/TrEMBL
      H0YFN7

    2. XM_054363330.1 → XP_054219305.1  guanine nucleotide exchange factor subunit RIC1 isoform X2

      UniProtKB/TrEMBL
      H0YFN7

    3. XM_054363333.1 → XP_054219308.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    4. XM_054363332.1 → XP_054219307.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    5. XM_054363331.1 → XP_054219306.1  guanine nucleotide exchange factor subunit RIC1 isoform X3

      UniProtKB/TrEMBL
      H0YFN7

    6. XM_054363334.1 → XP_054219309.1  guanine nucleotide exchange factor subunit RIC1 isoform X4

      UniProtKB/TrEMBL
      H0YFN7

    7. XM_054363335.1 → XP_054219310.1  guanine nucleotide exchange factor subunit RIC1 isoform X5

      UniProtKB/TrEMBL
      H0YFN7

    8. XM_054363336.1 → XP_054219311.1  guanine nucleotide exchange factor subunit RIC1 isoform X6

    RNA

    1. XR_008488049.1 RNA Sequence

    2. XR_008488051.1 RNA Sequence

    3. XR_008488050.1 RNA Sequence

    4. XR_008488052.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4ADV7.2 GenPept UniProtKB/Swiss-Prot:Q4ADV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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