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    RAB28 RAB28, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 9364, updated on 30-Oct-2024

    Summary

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    Official Symbol
    RAB28provided by HGNC
    Official Full Name
    RAB28, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:9768
    See related
    Ensembl:ENSG00000157869 MIM:612994; AllianceGenome:HGNC:9768
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CORD18
    Summary
    This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]
    Expression
    Ubiquitous expression in testis (RPKM 2.8), brain (RPKM 1.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB28 in Genome Data Viewer
    Location:
    4p15.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (13367724..13484340, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (13347405..13464023, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (13369348..13485964, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900668 Neighboring gene heat shock protein 90 alpha family class B member 2, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:13385815-13386314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:13417206-13417716 Neighboring gene Sharpr-MPRA regulatory regions 1971 and 3941 Neighboring gene uncharacterized LOC105374495 Neighboring gene uncharacterized LOC124900669 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:13524914-13526113

    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 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. The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily. Pereira-Leal JB, et al. J Mol Biol, 2000 Aug 25. PMID 10966806
    2. Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. Iarossi G, et al. Int J Mol Sci, 2020 Dec 31. PMID 33396523, Free PMC Article
    3. A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium. Jespersgaard C, et al. Invest Ophthalmol Vis Sci, 2020 Feb 7. PMID 32084271, Free PMC Article
    4. A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy. Lee GI, et al. Ophthalmic Genet, 2017 Dec. PMID 28388261
    5. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. Riveiro-Álvarez R, et al. JAMA Ophthalmol, 2015 Feb. PMID 25356532, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The roles of Klotho and FGF-23 in bipolar manic episode.
      Title: The roles of Klotho and FGF-23 in bipolar manic episode.
    2. Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
      Title: Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
    3. In conclusion, RAB28 variants are a rare cause of cone-rod dystrophy in various ethnic groups. These variants cause a comparable ophthalmological phenotype and furthermore could also be a cause of postaxial polydactyly.
      Title: A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium.
    4. In summary, we identified a novel rare "likely pathogenic" variant--RAB28 c.68C>T--in a Korean patient with cone-rod dystrophy.
      Title: A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy.
    5. Deleterious mutations in RAB28 result in a classic CRD phenotype and are an infrequent cause of CRD in the Spanish population.
      Title: New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
    6. Autosomal-recessive cone-rod dystrophy is associated with RAB28 mutations.
      Title: Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Crystal structures of Rab28 in the active (GppNHp-bound) and inactive (GDP-3'P-bound) forms at 1.5 and 1.1A resolution were reported.
      Title: Large nucleotide-dependent conformational change in Rab28.
    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
    Cone-rod dystrophy 18
    MedGen: C3809299 OMIM: 615374 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of RAB28, member RAS oncogene family (RAB28) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
    Knockdown of RAB28, member RAS oncogene family by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC41862

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary rootlet ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-28

    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.

    Genomic

    1. NG_033891.1 RefSeqGene

      Range
      5026..121642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017979.3 → NP_001017979.1  ras-related protein Rab-28 isoform 1

      See identical proteins and their annotated locations for NP_001017979.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC035054, DA369194
      Consensus CDS
      CCDS33961.1
      UniProtKB/Swiss-Prot
      G8JLC5, P51157, Q8IYR8, Q8NI05
      Related
      ENSP00000328551.5, ENST00000330852.10
      Conserved Domains (1) summary
      cd04109
      Location:13 → 221
      Rab28; Rab GTPase family 28 (Rab28)

    2. NM_001159601.2 → NP_001153073.1  ras-related protein Rab-28 isoform 3

      See identical proteins and their annotated locations for NP_001153073.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC006226, BQ021120, CX165950, DA369194
      Consensus CDS
      CCDS54741.1
      UniProtKB/Swiss-Prot
      P51157
      Related
      ENSP00000340079.4, ENST00000338176.8
      Conserved Domains (1) summary
      cd04109
      Location:13 → 191
      Rab28; Rab GTPase family 28 (Rab28)

    3. NM_004249.4 → NP_004240.2  ras-related protein Rab-28 isoform 2

      See identical proteins and their annotated locations for NP_004240.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate exon in the 3' coding region, compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC006226, BQ021120, DA369194, X94703
      Consensus CDS
      CCDS3409.1
      UniProtKB/Swiss-Prot
      P51157
      Related
      ENSP00000288723.4, ENST00000288723.9
      Conserved Domains (1) summary
      cd04109
      Location:13 → 220
      Rab28; Rab GTPase family 28 (Rab28)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      13367724..13484340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      13347405..13464023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51157.2 GenPept UniProtKB/Swiss-Prot:P51157

    Gene LinkOut

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