• Gene id: 25923

Gene Summary

• Gene Symbol: ATL3   Gene   UCSC   Ensembl
• Aliases: HSN1F
• Gene name: atlastin GTPase 3
• Alternate names: atlastin-3,
• Gene location: 11q13.1 (63671973: 63624081)     Exons: 15     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated wit
• OMIM: 609369

Protein Summary

• Protein general information: Q6DD88  
  • Name: Atlastin 3 (EC 3.6.5. )
  • Length: 541  
  • Mass: 60542
  • Tissue specificity: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level). {ECO
• Sequence:

  MLSPQRVAAAASRGADDAMESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSF
  ILDFMLRYLYSQKESGHSNWLGDPEEPLTGFSWRGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQ
  STVKDCATIFALSTMTSSVQIYNLSQNIQEDDLQQLQLFTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGL
  QGGMAFLDKRLQVKEHQHEEIQNVRNHIHSCFSDVTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYV
  LNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLPHPKSMLQATAEANNLAAAASAKDIYYNNMEEVCGGEK
  PYLSPDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELEEEIKELYENFCKHNGSKNVFSTFRTPAVLFTG
  IVALYIASGLTGFIGLEVVAQLFNCMVGLLLIALLTWGYIRYSGQYRELGGAIDFGAAYVLEQASSHIGNSTQAT
  VRDAVVGRPSMDKKAQ

• Structural information:
  • Protein Domains: (57..30-)
    (/note="GB1/RHD3-type-G")
  • Interpro: IPR030386  IPR003191  IPR036543  IPR015894  IPR027417  
  • Prosite: PS51715
  • PDB: 5VGR
  • PDBsum: 5VGR
  • STRING: ENSP00000381844
• Other Databases: GeneCards:  ATL3  Malacards:  ATL3

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:0051260	protein homooligomerization	IBA	biological process
GO:0007029	endoplasmic reticulum organization	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0071782	endoplasmic reticulum tubular network	IDA	cellular component
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:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0003924	GTPase activity	NAS	molecular function
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903373	positive regulation of endoplasmic reticulum tubular network organization	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0007030	Golgi organization	IMP	biological process

Diseases

Associated diseases	References
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Hereditary sensory and autonomic neuropathy	KEGG:H00265
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R