• Gene id: 51062

Gene Summary

• Gene Symbol: ATL1   Gene   UCSC   Ensembl
• Aliases: AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1
• Gene name: atlastin GTPase 1
• Alternate names: atlastin-1, GBP-3, GTP-binding protein 3, brain-specific GTP-binding protein, guanine nucleotide-binding protein 3, guanylate-binding protein 3, hGBP3, spastic paraplegia 3 protein A,
• Gene location: 14q22.1 (50533081: 50633067)     Exons: 15     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may
• OMIM: 606439

Protein Summary

• Protein general information: Q8WXF7  
  • Name: Atlastin 1 (EC 3.6.5. ) (Brain specific GTP binding protein) (GTP binding protein 3) (GBP 3) (hGBP3) (Guanine nucleotide binding protein 3) (Spastic paraplegia 3 protein A)
  • Length: 558  
  • Mass: 63544
  • Tissue specificity: Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyrami
• Sequence:

  MAKNRRDRNSWGGFSEKTYEWSSEEEEPVKKAGPVQVLIVKDDHSFELDETALNRILLSEAVRDKEVVAVSVAGA
  FRKGKSFLMDFMLRYMYNQESVDWVGDYNEPLTGFSWRGGSERETTGIQIWSEIFLINKPDGKKVAVLLMDTQGT
  FDSQSTLRDSATVFALSTMISSIQVYNLSQNVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRDWSFPYEF
  SYGADGGAKFLEKRLKVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKVATNPNFDGKLKEIDDEFIKNLKIL
  IPWLLSPESLDIKEINGNKITCRGLVEYFKAYIKIYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEIC
  GGDKPFLAPNDLQTKHLQLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTPAT
  LFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVIDQVAAALWDQGSTNEALY
  KLYSAAATHRHLYHQAFPTPKSESTEQSEKKKM

• Structural information:
  • Protein Domains: (64..30-)
    (/note="GB1/RHD3-type-G")
  • Interpro: IPR030386  IPR036543  IPR015894  IPR027417  
  • Prosite: PS51715
  • PDB: 3Q5D 3Q5E 3QNU 3QOF 4IDN 4IDO 4IDP 4IDQ 6B9D 6B9E 6B9F 6B9G
  • PDBsum: 3Q5D 3Q5E 3QNU 3QOF 4IDN 4IDO 4IDP 4IDQ 6B9D 6B9E 6B9F 6B9G
  • DIP: 53502
  • STRING: ENSP00000351155
• Other Databases: GeneCards:  ATL1  Malacards:  ATL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0007029	endoplasmic reticulum organization	IBA	biological process
GO:0051260	protein homooligomerization	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0051260	protein homooligomerization	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0007029	endoplasmic reticulum organization	IDA	biological process
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0005525	GTP binding	ISS	molecular function
GO:0071782	endoplasmic reticulum tubular network	ISS	cellular component
GO:0007409	axonogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000137	Golgi cis cisterna	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990809	endoplasmic reticulum tubular network membrane organization	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071782	endoplasmic reticulum tubular network	IEA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000137	Golgi cis cisterna	IEA	cellular component
GO:0007409	axonogenesis	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary spastic paraplegia	KEGG:H00266
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray