• Gene id: 282808

Gene Summary

• Gene Symbol: RAB40AL   Gene   UCSC   Ensembl
• Aliases: MRXSMP, RAR2, RLGP
• Gene name: RAB40A like
• Alternate names: ras-related protein Rab-40A-like, RAB40A, member RAS oncogene family-like, Ras like GTPase, SOCS box containing protein RAR2, ras-like GTPase,
• Gene location: Xq22.1 (102937271: 102938299)     Exons: 1     NC_000023.11
• Gene summary(Entrez): 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]
• OMIM: 614423

Protein Summary

• Protein general information: P0C0E4  
  • Name: Ras related protein Rab 40A like (Ras like GTPase)
  • Length: 278  
  • Mass: 31239
  • Tissue specificity: Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney. {ECO
• Sequence:

  MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSHLGGIDYKTTTILLDGQRVKLKLWDTSGQGR
  FCTIFRSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGV
  TFFEVSPLCNFNIIESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIALRSHLKSF
  SMAKGLNARMMRGLSYSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS

• Structural information:
  • Protein Domains: (175..22-)
    (/note="SOCS-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00194"-)
  • Interpro: IPR027417  IPR005225  IPR001806  IPR001496  IPR036036  
  • Prosite: PS51419 PS50225
  • STRING: ENSP00000218249
• Other Databases: GeneCards:  RAB40AL  Malacards:  RAB40AL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray