InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAB40AL

Summary

InnateDB Protein

IDBP-80357.6

Last Modified

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

Gene Symbol

RAB40AL

Protein Name

RAB40A, member RAS oncogene family-like

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000218249

InnateDB Gene

IDBG-80353 (RAB40AL)

Protein Structure

UniProt Annotation

Function

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. {ECO:0000250}.

Subcellular Localization

Cell membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion.

Disease Associations

Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP) [MIM:300519]: A rare neurodevelopmental disorder characterized by mental retardation, sensorineural hearing loss, short stature and craniofacial dysmorphisms. Patients also exhibit abnormal teeth, widely spaced nipples, abnormal dermatoglyphics, renal insufficiency, and impaired haematopoiesis. Mental retardation is defined as significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:22581972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney. {ECO:0000269PubMed:12145744, ECO:0000269PubMed:22581972}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [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

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
GO:0016567	protein ubiquitination
GO:0035556	intracellular signal transduction

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005886	plasma membrane
GO:0016020	membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001496 SOCS protein, C-terminal
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
IPR013684 Mitochondrial Rho-like
IPR020849 Small GTPase superfamily, Ras type
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF07525
PF00071
PF00025
PF08477

PRINTS

PR00449
PR00627
PR00328

PIRSF

SMART

SM00253
SM00969
SM00176
SM00174
SM00175
SM00173

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt