Reviewed,
UniProtKB/Swiss-Prot Q8WXF7 (ATLA1_HUMAN)
Last modified
November 24, 2009.
Version 72.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Atlastin-1 EC=3.6.5.- Alternative name(s): Spastic paraplegia 3A Guanine nucleotide-binding protein 3 GTP-binding protein 3 Short name=GBP-3 Short name=hGBP3 Brain-specific GTP-binding protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 558 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | GTPase tethering membranes through formation of trans-homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development. Ref.8 Ref.11 Ref.12 Ref.14 |
| Subunit structure | Homooligomer. Interacts (via N-terminal region) with MAP4K4 (via CNH regulatory domain). Interacts with REEP5, RTN3 and RTN4 (via the transmembrane region). Interacts with SPAST; interaction is direct. May interact with TMED2. Ref.8 Ref.11 Ref.14 Ref.2 Ref.9 Ref.10 |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection › axon By similarity. |
| 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 pyramidal neurons in the cerebral cortex and the hippocampus of the brain. Expressed in upper and lower motor neurons (at protein level). Ref.8 Ref.11 Ref.12 |
| Involvement in disease | Defects in ATL1 are the cause of spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]; also known as Strumpell-Lorrain syndrome. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Ref.1 Ref.15 Ref.16 |
| Sequence similarities | Belongs to the GBP family. Atlastin subfamily. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Reep5 | Q60870 | 1 | EBI-2410266,EBI-2410304 | From a different organism. |
| Rtn3 | Q9ES97-3 | 1 | EBI-2410266,EBI-1487798 | From a different organism. |
| RTN4 | Q9NQC3-1 | 1 | EBI-2410266,EBI-715972 | |
| Rtn4 | Q9JK11-3 | 1 | EBI-2410266,EBI-920002 | From a different organism. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 558 | 558 | Atlastin-1 | PRO_0000190971 | |||||
Regions | |||||||||
| Topological domain | 1 – 449 | 449 | Cytoplasmic Ref.8 | ||||||
| Transmembrane | 450 – 470 | 21 | Potential | ||||||
| Topological domain | 471 | 1 | Lumenal Potential | ||||||
| Transmembrane | 472 – 492 | 21 | Potential | ||||||
| Topological domain | 493 – 558 | 66 | Cytoplasmic Ref.8 | ||||||
| Nucleotide binding | 74 – 81 | 8 | GTP Potential | ||||||
| Nucleotide binding | 146 – 150 | 5 | GTP Potential | ||||||
| Region | 448 – 558 | 111 | Sufficient for membrane association | ||||||
| Coiled coil | 412 – 439 | 28 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 10 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 18 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 22 | 1 | Phosphoserine Ref.13 | ||||||
| Modified residue | 23 | 1 | Phosphoserine Ref.13 | ||||||
Natural variations | |||||||||
| Natural variant | 43 | 1 | D → E: dbSNP rs17850684. Ref.6 | VAR_058963 | |||||
| Natural variant | 161 | 1 | A → P in SPG3; affects endoplasmic reticulum and Golgi morphology. Ref.11 Ref.16 | VAR_019446 | |||||
| Natural variant | 193 | 1 | F → C: dbSNP rs17850683. Ref.6 | VAR_058964 | |||||
| Natural variant | 217 | 1 | R → Q in SPG3; alters endoplasmic reticulum morphology. Ref.12 Ref.15 | VAR_017146 | |||||
| Natural variant | 239 | 1 | R → C in SPG3; affects endoplasmic reticulum and Golgi morphology. Ref.11 Ref.1 | VAR_017147 | |||||
| Natural variant | 247 | 1 | H → P in SPG3. Ref.16 | VAR_019447 | |||||
| Natural variant | 258 | 1 | H → R in SPG3. Ref.1 | VAR_017148 | |||||
| Natural variant | 259 | 1 | S → Y in SPG3. Ref.1 | VAR_017149 | |||||
Experimental info | |||||||||
| Mutagenesis | 80 | 1 | K → A: Alters endoplasmic reticulum morphogenesis. Ref.12 | ||||||
| Mutagenesis | 151 | 1 | F → S: Affects endoplasmic reticulum and Golgi morphology. Ref.11 | ||||||
| Mutagenesis | 162 | 1 | T → P: Affects endoplasmic reticulum and Golgi morphology. Ref.11 | ||||||
| Mutagenesis | 398 | 1 | S → Y: Affects endoplasmic reticulum and Golgi morphology. Ref.11 | ||||||
| Mutagenesis | 495 | 1 | R → W: Affects endoplasmic reticulum and Golgi morphology. Ref.11 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia." Zhao X., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C.H., Tukel T., Apak M., Heiman-Patterson T., Ming L., Bui M., Fink J.K. Nat. Genet. 29:326-331(2001) [PubMed: 11685207] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SPG3 CYS-239; ARG-258 AND TYR-259. |
| [2] | "A novel GTP-binding protein hGBP3 interacts with NIK/HGK." Luan Z., Zhang Y., Liu A., Man Y., Cheng L., Hu G. FEBS Lett. 530:233-238(2002) [PubMed: 12387898] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH MAP4K4. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Thalamus. |
| [4] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed: 12508121] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLU-43 AND CYS-193. Tissue: Eye. |
| [7] | Mei G., Yu W., Gibbs R.A. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 80-558. Tissue: Brain. |
| [8] | "Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin." Zhu P.-P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., Blackstone C. J. Biol. Chem. 278:49063-49071(2003) [PubMed: 14506257] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, REGION, TOPOLOGY, SUBUNIT. |
| [9] | "Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners." Sanderson C.M., Connell J.W., Edwards T.L., Bright N.A., Duley S., Thompson A., Luzio J.P., Reid E. Hum. Mol. Genet. 15:307-318(2006) [PubMed: 16339213] [Abstract] Cited for: INTERACTION WITH SPAST, SUBCELLULAR LOCATION. |
| [10] | "Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance." Evans K.J., Keller C., Pavur K., Glasgow K., Conn B., Lauring B.P. Proc. Natl. Acad. Sci. U.S.A. 103:10666-10671(2006) [PubMed: 16815977] [Abstract] Cited for: INTERACTION WITH SPAST. |
| [11] | "Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis." Namekawa M., Muriel M.-P., Janer A., Latouche M., Dauphin A., Debeir T., Martin E., Duyckaerts C., Prigent A., Depienne C., Sittler A., Brice A., Ruberg M. Mol. Cell. Neurosci. 35:1-13(2007) [PubMed: 17321752] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPAG3 PRO-161 AND CYS-239, MUTAGENESIS OF PHE-151; THR-162; SER-398 AND ARG-495, INTERACTION WITH TMED2, TISSUE SPECIFICITY. |
| [12] | "Atlastin GTPases are required for Golgi apparatus and ER morphogenesis." Rismanchi N., Soderblom C., Stadler J., Zhu P.-P., Blackstone C. Hum. Mol. Genet. 17:1591-1604(2008) [PubMed: 18270207] [Abstract] Cited for: FUNCTION, CHARACTERIZATION OF VARIANT SPAG3 GLN-217, MUTAGENESIS OF LYS-80, TISSUE SPECIFICITY. |
| [13] | "Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-22 AND SER-23, MASS SPECTROMETRY. Tissue: Platelet. |
| [14] | "A class of dynamin-like GTPases involved in the generation of the tubular ER network." Hu J., Shibata Y., Zhu P.-P., Voss C., Rismanchi N., Prinz W.A., Rapoport T.A., Blackstone C. Cell 138:549-561(2009) [PubMed: 19665976] [Abstract] Cited for: FUNCTION, INTERACTION WITH REEP5; RTN3 AND RTN4, SUBCELLULAR LOCATION. |
| [15] | "Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia." Muglia M., Magariello A., Nicoletti G., Patitucci A., Gabriele A.L., Conforti F.L., Mazzei R., Caracciolo M., Ardito B., Lastilla M., Tedeschi G., Quattrone A. Ann. Neurol. 51:794-795(2002) [PubMed: 12112092] [Abstract] Cited for: VARIANT SPG3 GLN-217. |
| [16] | "Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus." Sauter S.M., Engel W., Neumann L.M., Kunze J., Neesen J. Hum. Mutat. 23:98-98(2004) [PubMed: 14695538] [Abstract] Cited for: VARIANTS SPG3 PRO-161 AND PRO-247. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY032844 mRNA. Translation: AAK51160.1. Different initiation. AF444143 mRNA. Translation: AAL37898.1. AK290185 mRNA. Translation: BAF82874.1. AL118556 Genomic DNA. No translation available. AL606834 Genomic DNA. No translation available. CH471078 Genomic DNA. Translation: EAW65706.1. BC010708 mRNA. Translation: AAH10708.2. AF131801 mRNA. Translation: AAD20047.1. Different initiation. | |
| IPI | IPI00103530. |
| RefSeq | NP_001121185.1. NP_056999.2. NP_853629.2. |
| UniGene | Hs.584905 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8WXF7. 4 interactions. |
| STRING | Q8WXF7. |
PTM databases | |
| PhosphoSite | Q8WXF7. |
Proteomic databases | |
| PRIDE | Q8WXF7. |
Genome annotation databases | |
| Ensembl | ENST00000358385; ENSP00000351155; ENSG00000198513; Homo sapiens. [Genome view] |
| GeneID | 51062. |
| UCSC | uc001wyf.2. human. |
Organism-specific databases | |
| CTD | 51062. |
| GeneCards | GC14P050097. |
| H-InvDB | HIX0011643. |
| HGNC | HGNC:11231. ATL1. |
| MIM | 182600. phenotype. 606439. gene. |
| Orphanet | 100984. Autosomal dominant spastic paraplegia, type 3. |
| PharmGKB | PA36061. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8WXF7. |
| OMA | ATHRHLY |
Gene expression databases | |
| ArrayExpress | Q8WXF7. |
| Bgee | Q8WXF7. |
| CleanEx | HS_ATL1. |
| Genevestigator | Q8WXF7. |
| GermOnline | ENSG00000198513. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR015900. Guanylate-bd-like_C. IPR015894. Guanylate-bd_N. [Graphical view] |
| Pfam | PF02263. GBP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 53649. |
| SOURCE | Search... |
Entry information
| Entry name | ATLA1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8WXF7 Secondary accession number(s): A8K2C0, O95890, Q96FK0 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


