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

Gene ID: 9364, updated on 15-Dec-2018

Summary

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
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

Genomic context

See RAB28 in Genome Data Viewer
Location:
4p15.33
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (13367723..13484365, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (13343863..13485989, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374494 Neighboring gene heat shock protein 90 alpha family class B member 2, pseudogene Neighboring gene Sharpr-MPRA regulatory regions 1971 and 3941 Neighboring gene uncharacterized LOC105374495 Neighboring gene long intergenic non-protein coding RNA 1097

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cone-rod dystrophy 18
MedGen: C3809299 OMIM: 615374 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC41862

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
 
ciliary rootlet ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras-related protein Rab-28
NP_001017979.1
NP_001153073.1
NP_004240.2

NCBI Reference Sequences (RefSeq)

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
    5001..121643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017979.3NP_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
    P51157
    Related
    ENSP00000328551.5, ENST00000330852.9
    Conserved Domains (1) summary
    cd04109
    Location:13221
    Rab28; Rab GTPase family 28 (Rab28)
  2. NM_001159601.1NP_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 (2) summary
    smart00175
    Location:13178
    RAB; Rab subfamily of small GTPases
    cd04109
    Location:13191
    Rab28; Rab GTPase family 28 (Rab28)
  3. NM_004249.3NP_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, ENST00000288723.8
    Conserved Domains (1) summary
    cd04109
    Location:13220
    Rab28; Rab GTPase family 28 (Rab28)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    13367723..13484365 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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