RAB40AL (RAB40A like)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 282808
Gene name RAB40A like
Gene symbol RAB40AL
Synonyms (NCBI Gene)
MRXSMPRAR2RLGP
Chromosome X
Chromosome location Xq22.1
Summary This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010]
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005525 Function GTP binding IEA
GO:0005737 Component Cytoplasm IDA 22581972
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300405 25410 ENSG00000102128
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C0E4
Protein name Ras-related protein Rab-40A-like (EC 3.6.5.2) (Ras-like GTPase)
Protein function May act as substrate-recognition component of the ECS(RAB40) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). The Rab40 subfamily belongs to the Rab family t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 16 → 176 Ras family Domain
PF07525 SOCS_box 189 → 225 SOCS box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney. {ECO:0000269|PubMed:12145744, ECO:0000269|PubMed:22581972}.
Sequence
Sequence length 278
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deafness-intellectual disability, Martin-Probst type syndrome Uncertain significance; Likely benign rs2084562831, rs145606134, rs61729484 RCV001808969
RCV000030692
RCV000616288
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cognition Disorders Associate 25370018
Hearing Loss Associate 25370018
Martin Probst Deafness Mental Retardation Syndrome Associate 25370018