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Aliases for RAB40AL Gene

Aliases for RAB40AL Gene

  • RAB40A, Member RAS Oncogene Family-Like 2 3 5
  • Ras Like GTPase 2 3
  • Ras-Like GTPase 3 4
  • RLGP 3 4
  • SOCS Box Containing Protein RAR2 3
  • Ras-Related Protein Rab-40A-Like 3
  • MRXSMP 3
  • RAR2 3

External Ids for RAB40AL Gene

Previous GeneCards Identifiers for RAB40AL Gene

  • GC00U921648
  • GC0XP102079
  • GC0XP102192
  • GC0XP091857

Summaries for RAB40AL Gene

Entrez Gene Summary for RAB40AL Gene

  • 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]

GeneCards Summary for RAB40AL Gene

RAB40AL (RAB40A, Member RAS Oncogene Family-Like) is a Protein Coding gene. Diseases associated with RAB40AL include Mental Retardation, X-Linked, Syndromic, Martin-Probst Type and Duchenne Muscular Dystrophy. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB40A.

UniProtKB/Swiss-Prot for RAB40AL Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB40AL Gene

Genomics for RAB40AL Gene

Regulatory Elements for RAB40AL Gene


Genomic Location for RAB40AL Gene

Chromosome:
X
Start:
102,937,272 bp from pter
End:
102,938,300 bp from pter
Size:
1,029 bases
Orientation:
Plus strand

Genomic View for RAB40AL Gene

Genes around RAB40AL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB40AL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB40AL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB40AL Gene

Proteins for RAB40AL Gene

  • Protein details for RAB40AL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0C0E4-RB40L_HUMAN
    Recommended name:
    Ras-related protein Rab-40A-like
    Protein Accession:
    P0C0E4
    Secondary Accessions:
    • Q495H3

    Protein attributes for RAB40AL Gene

    Size:
    278 amino acids
    Molecular mass:
    31239 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RAB40AL Gene

Post-translational modifications for RAB40AL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB40AL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB40AL Gene

Domains & Families for RAB40AL Gene

Protein Domains for RAB40AL Gene

Suggested Antigen Peptide Sequences for RAB40AL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0C0E4

UniProtKB/Swiss-Prot:

RB40L_HUMAN :
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Belongs to the small GTPase superfamily. Rab family.
Domain:
  • The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
  • Contains 1 SOCS box domain.
Family:
  • Belongs to the small GTPase superfamily. Rab family.
genes like me logo Genes that share domains with RAB40AL: view

No data available for Gene Families for RAB40AL Gene

Function for RAB40AL Gene

Molecular function for RAB40AL Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for RAB40AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with RAB40AL: view
genes like me logo Genes that share phenotypes with RAB40AL: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RAB40AL Gene

Localization for RAB40AL Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB40AL Gene

Membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB40AL gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
cytosol 4
endosome 4
cytoskeleton 2
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAB40AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22581972
GO:0005739 mitochondrion IEA,IDA 22581972
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RAB40AL: view

Pathways & Interactions for RAB40AL Gene

SuperPathways for RAB40AL Gene

No Data Available

UniProtKB/Swiss-Prot P0C0E4-RB40L_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RAB40AL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0016567 protein ubiquitination IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with RAB40AL: view

No data available for Pathways by source and SIGNOR curated interactions for RAB40AL Gene

Transcripts for RAB40AL Gene

mRNA/cDNA for RAB40AL Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RAB40AL Gene

RAB40A, member RAS oncogene family-like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAB40AL Gene

No ASD Table

Relevant External Links for RAB40AL Gene

GeneLoc Exon Structure for
RAB40AL
ECgene alternative splicing isoforms for
RAB40AL

Expression for RAB40AL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAB40AL Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB40AL Gene:

RAB40AL

SOURCE GeneReport for Unigene cluster for RAB40AL Gene:

Hs.449517

mRNA Expression by UniProt/SwissProt for RAB40AL Gene:

P0C0E4-RB40L_HUMAN
Tissue specificity: Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.
genes like me logo Genes that share expression patterns with RAB40AL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for RAB40AL Gene

Orthologs for RAB40AL Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB40AL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB40AL 34 35
  • 99.28 (n)
mouse
(Mus musculus)
Mammalia Rab40b 35
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RAB40B 35
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 57 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 4 (a)
OneToMany
chicken
(Gallus gallus)
Aves RAB40B 35
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rab40b 35
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rab40 35
  • 57 (a)
OneToMany
Species where no ortholog for RAB40AL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB40AL Gene

ENSEMBL:
Gene Tree for RAB40AL (if available)
TreeFam:
Gene Tree for RAB40AL (if available)

Paralogs for RAB40AL Gene

Variants for RAB40AL Gene

Sequence variations from dbSNP and Humsavar for RAB40AL Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs145606134 Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP) [MIM:300519], Uncertain significance 102,937,494(+) GCTGG(A/G)CGGCC reference, missense
rs112003695 -- 102,936,299(+) TCAAA(A/C/T)GATAG upstream-variant-2KB
rs138133927 -- 102,937,495(+) CTGGA(A/C)GGCCA reference, missense
rs138778721 -- 102,937,600(+) GTCTA(C/T)GACAT reference, synonymous-codon
rs139506490 -- 102,937,916(+) GCACC(A/G)TCGTG reference, missense

Variation tolerance for RAB40AL Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.49; 82.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB40AL Gene

Human Gene Mutation Database (HGMD)
RAB40AL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB40AL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAB40AL Gene

Disorders for RAB40AL Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB40AL Gene - From: GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, martin-probst type
  • deafness-intellectual disability, martin-probst type syndrome
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RB40L_HUMAN
  • 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:0000269 PubMed:22581972}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RAB40AL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB40AL
genes like me logo Genes that share disorders with RAB40AL: view

No data available for Genatlas for RAB40AL Gene

Publications for RAB40AL Gene

  1. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. (PMID: 12145744) Saito-Ohara F. … Inazawa J. (Am. J. Hum. Genet. 2002) 3 4 22 64
  2. Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. (PMID: 22581972) Bedoyan J.K. … Martin D.M. (J. Med. Genet. 2012) 3 4 64
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. (PMID: 25370018) OA8dak M. … PA8oski R. (Eur. J. Pediatr. 2015) 3 64

Products for RAB40AL Gene

Sources for RAB40AL Gene

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