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

Gene ID: 57589, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 6.0), testis (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9p24.1
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5629107..5778633)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5634236..5782557)
105.20220307 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 (20) 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)

Genotypes

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_2023_10

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

  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

  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

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

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

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

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

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

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

  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

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