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

Gene ID: 9364, updated on 13-Apr-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
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Genomic context

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Location:
4p15.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (13367724..13484340, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (13347405..13464023, complement)
105.20220307 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. 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

See all (31) 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
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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
NP_001017979.1
NP_001153073.1
NP_004240.2

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_2023_10

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

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