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Aliases for RAB28 Gene

Aliases for RAB28 Gene

  • RAB28, Member RAS Oncogene Family 2 3 5
  • Ras-Related Protein Rab-28 3
  • CORD18 3

External Ids for RAB28 Gene

Previous GeneCards Identifiers for RAB28 Gene

  • GC04M013212
  • GC04U900009
  • GC04M013057
  • GC04M013120
  • GC04M013045
  • GC04M013369
  • GC04M012707

Summaries for RAB28 Gene

Entrez Gene Summary for RAB28 Gene

  • 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]

GeneCards Summary for RAB28 Gene

RAB28 (RAB28, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB28 include Cone-Rod Dystrophy 18 and Retinitis Pigmentosa. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include GTP binding and GDP binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB28 Gene

Genomics for RAB28 Gene

Regulatory Elements for RAB28 Gene

Enhancers for RAB28 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around RAB28 on UCSC Golden Path with GeneCards custom track

Promoters for RAB28 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RAB28 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB28 Gene

Chromosome:
4
Start:
13,296,017 bp from pter
End:
13,484,365 bp from pter
Size:
188,349 bases
Orientation:
Minus strand

Genomic View for RAB28 Gene

Genes around RAB28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB28 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB28 Gene

Proteins for RAB28 Gene

  • Protein details for RAB28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51157-RAB28_HUMAN
    Recommended name:
    Ras-related protein Rab-28
    Protein Accession:
    P51157
    Secondary Accessions:
    • G8JLC5
    • Q8IYR8
    • Q8NI05

    Protein attributes for RAB28 Gene

    Size:
    221 amino acids
    Molecular mass:
    24841 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RAB28 Gene

    Alternative splice isoforms for RAB28 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAB28 Gene

Post-translational modifications for RAB28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAB28 Gene

Domains & Families for RAB28 Gene

Gene Families for RAB28 Gene

Protein Domains for RAB28 Gene

Suggested Antigen Peptide Sequences for RAB28 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51157

UniProtKB/Swiss-Prot:

RAB28_HUMAN :
  • Belongs to the small GTPase superfamily. Rab family.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB28: view

Function for RAB28 Gene

Gene Ontology (GO) - Molecular Function for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity TAS 8647132
GO:0005525 GTP binding IDA 19026641
GO:0019003 GDP binding IDA 19026641
genes like me logo Genes that share ontologies with RAB28: view
genes like me logo Genes that share phenotypes with RAB28: view

Human Phenotype Ontology for RAB28 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RAB28 Gene

miRTarBase miRNAs that target RAB28

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB28 Gene

Localization for RAB28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB28 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium basal body. Note=Expressed in the basal body and ciliary rootlet of the photoreceptors. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB28 Gene COMPARTMENTS Subcellular localization image for RAB28 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0035253 ciliary rootlet ISS --
GO:0036064 ciliary basal body ISS --
genes like me logo Genes that share ontologies with RAB28: view

Pathways & Interactions for RAB28 Gene

genes like me logo Genes that share pathways with RAB28: view

Pathways by source for RAB28 Gene

1 Qiagen pathway for RAB28 Gene

Gene Ontology (GO) - Biological Process for RAB28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:1901998 toxin transport IEA --
genes like me logo Genes that share ontologies with RAB28: view

No data available for SIGNOR curated interactions for RAB28 Gene

Drugs & Compounds for RAB28 Gene

No Compound Related Data Available

Transcripts for RAB28 Gene

Unigene Clusters for RAB28 Gene

RAB28, member RAS oncogene family:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB28 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: - - - -
SP3: -
SP4:

Relevant External Links for RAB28 Gene

GeneLoc Exon Structure for
RAB28
ECgene alternative splicing isoforms for
RAB28

Expression for RAB28 Gene

mRNA expression in normal human tissues for RAB28 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAB28 Gene

This gene is overexpressed in Retina (23.4) and Ovary (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB28 Gene



Protein tissue co-expression partners for RAB28 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB28 Gene:

RAB28

SOURCE GeneReport for Unigene cluster for RAB28 Gene:

Hs.656060

mRNA Expression by UniProt/SwissProt for RAB28 Gene:

P51157-RAB28_HUMAN
Tissue specificity: Isoform S is detected in most tissues investigated: cortex, liver, kidney, skeletal muscle, adipose tissue, testis, urothelium, lung, bone marrow and retinal pigment epithelium (RPE). Isoform L 2 is widely and abundantly expressed all tissues. Isoform 3 is highly expressed in heart, lung, bone marrow, retina, brain, and RPE.
genes like me logo Genes that share expression patterns with RAB28: view

Primer Products

No data available for mRNA differential expression in normal tissues for RAB28 Gene

Orthologs for RAB28 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB28 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB28 34
  • 95.78 (n)
  • 96.38 (a)
RAB28 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB28 34
  • 95.48 (n)
  • 96.38 (a)
RAB28 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab28 34
  • 92.01 (n)
  • 95.48 (a)
Rab28 16
Rab28 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB28 34
  • 99.66 (n)
  • 100 (a)
RAB28 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab28 34
  • 92.61 (n)
  • 96.38 (a)
oppossum
(Monodelphis domestica)
Mammalia RAB28 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAB28 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAB28 34
  • 83.56 (n)
  • 86.88 (a)
RAB28 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAB28 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rab28 34
  • 78.88 (n)
  • 85.07 (a)
Str.15168 34
zebrafish
(Danio rerio)
Actinopterygii rab28 34
  • 73.91 (n)
  • 82.35 (a)
wufe49e06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3434 34
worm
(Caenorhabditis elegans)
Secernentea rab-28 34
  • 50.84 (n)
  • 48.4 (a)
rab-28 35
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
Species where no ortholog for RAB28 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAB28 Gene

ENSEMBL:
Gene Tree for RAB28 (if available)
TreeFam:
Gene Tree for RAB28 (if available)

Paralogs for RAB28 Gene

genes like me logo Genes that share paralogs with RAB28: view

No data available for Paralogs for RAB28 Gene

Variants for RAB28 Gene

Sequence variations from dbSNP and Humsavar for RAB28 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs2184 -- 13,481,618(+) GACAG(A/G)AAAAA intron-variant
rs3520 -- 13,365,098(+) GGAGC(C/T)AGAAG intron-variant
rs15412 -- 13,367,805(-) TTCTC(A/C/G/T)GGAGT intron-variant, utr-variant-3-prime
rs1062188 -- 13,451,439(-) CAACA(A/G)CAaaa intron-variant
rs1080002 -- 13,453,459(-) gaaca(C/T)gtgaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAB28 Gene

Variant ID Type Subtype PubMed ID
dgv8975n54 CNV loss 21841781
esv25888 CNV loss 19812545
esv2665157 CNV deletion 23128226
esv3399677 CNV insertion 20981092
esv3563442 CNV deletion 23714750
esv3599702 CNV loss 21293372
nsv1014473 CNV gain 25217958
nsv593750 CNV gain 21841781
nsv829866 CNV loss 17160897

Variation tolerance for RAB28 Gene

Residual Variation Intolerance Score: 32.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB28 Gene

Human Gene Mutation Database (HGMD)
RAB28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB28

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB28 Gene

Disorders for RAB28 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB28 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 18
  • cord18
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod retinal dystrophy-2
- elite association - COSMIC cancer census association via MalaCards
Search RAB28 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAB28_HUMAN
  • Cone-rod dystrophy 18 (CORD18) [MIM:615374]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:23746546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB28

Genetic Association Database (GAD)
RAB28
Human Genome Epidemiology (HuGE) Navigator
RAB28
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB28
genes like me logo Genes that share disorders with RAB28: view

No data available for Genatlas for RAB28 Gene

Publications for RAB28 Gene

  1. Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini. (PMID: 8647132) Brauers A. … Joost H.-G. (Eur. J. Biochem. 1996) 2 3 4 22 65
  2. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. (PMID: 23746546) Roosing S. … den Hollander A.I. (Am. J. Hum. Genet. 2013) 3 4 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. Large nucleotide-dependent conformational change in Rab28. (PMID: 19026641) Lee S.H. … Dominguez R. (FEBS Lett. 2008) 3 4 65
  5. Towards complete sets of farnesylated and geranylgeranylated proteins. (PMID: 17411337) Maurer-Stroh S. … Eisenhaber F. (PLoS Comput. Biol. 2007) 3 4 65

Products for RAB28 Gene

Sources for RAB28 Gene

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