RAB40AL (RAB40A like)

Gene

• Entrez ID: 282808
• Gene name: RAB40A like
• Gene symbol: RAB40AL
• Synonyms (NCBI Gene): MRXSMP, RAR2, RLGP
• 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)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	22581972
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006887	Process	Exocytosis	IBA
GO:0008021	Component	Synaptic vesicle	IBA
GO:0016020	Component	Membrane	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300405
• HGNC: 25410
• e!Ensembl: ENSG00000102128

Protein

• UniProt ID: 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:

  MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSHLGGIDYKTTTILLDG
  QRVKLKLWDTSGQGRFCTIFRSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVP
  KILVGNRLHLAFKRQVPREQAQAYAERLGVTFFEVSPLCNFNIIESFTELARIVLLRHRL
  NWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIALRSHLKSFSMAKGLNARMMRGLS
  YSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS

• Sequence length: 278

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COGNITION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness-intellectual disability, Martin-Probst type syndrome	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SYNDROMIC INTELLECTUAL DISABILITY	—	ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Benign Neoplasm	Benign Neoplasm	BEFREE	22694820		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	22581972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	25370018	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss	Hearing loss	Pubtator	25370018	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25370018, 9582072		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24863632, 25044830		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24209690		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22694820		★☆☆☆☆ Found in Text Mining only
Martin-Probst Deafness-Mental Retardation Syndrome	Martin-Probst Deafness-Mental Retardation Syndrome	UNIPROT_DG	22581972		★☆☆☆☆ Found in Text Mining only
Martin-Probst Deafness-Mental Retardation Syndrome	Martin-Probst Deafness-Mental Retardation Syndrome	CTD_human_DG	22581972		★☆☆☆☆ Found in Text Mining only
Martin-Probst Deafness-Mental Retardation Syndrome	Martin-Probst Deafness-Mental Retardation Syndrome	GENOMICS_ENGLAND_DG	26300074		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	24863632		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	CTD_human_DG	22581972		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	12145744		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	24863632		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	12145744		★☆☆☆☆ Found in Text Mining only