InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB28

Summary

InnateDB Protein

IDBP-10091.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAB28

Protein Name

RAB28, member RAS oncogene family

Synonyms

CORD18;

Species

Homo sapiens

Ensembl Protein

ENSP00000288723

InnateDB Gene

IDBG-10083 (RAB28)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body. Note=Expressed in the basal body and ciliary rootlet of the photoreceptors. {ECO:0000250}.

Disease Associations

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:0000269PubMed:23746546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:23746546}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003924	GTPase activity
GO:0005525	GTP binding
GO:0019003	GDP binding

Biological Process

GO:0006184	GTP catabolic process
GO:0006886	intracellular protein transport
GO:0006913	nucleocytoplasmic transport
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0015031	protein transport

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0035253	ciliary rootlet
GO:0036064	ciliary basal body

Protein Structure and Domains

PDB ID

InterPro

IPR001806 Small GTPase superfamily
IPR002041 Ran GTPase
IPR003578 Small GTPase superfamily, Rho type
IPR003579 Small GTPase superfamily, Rab type
IPR005225 Small GTP-binding protein domain
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR006762 Gtr1/RagA G protein
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00071
PF00025
PF04670
PF08477

PRINTS

PR00449
PR00627
PR00328

PIRSF

SMART

SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt