Q8NHH9 (ATLA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 77.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Atlastin-2 EC=3.6.5.- Alternative name(s): ADP-ribosylation factor-like protein 6-interacting protein 2 Short name=ARL-6-interacting protein 2 Short name=Aip-2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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 | 583 AA. |
| Sequence status | Complete. |
| 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. Ref.7 Ref.9 |
| Subunit structure | Interacts with REEP5 and RTN3. Ref.9 |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.7. |
| Tissue specificity | Expressed in peripheral tissues (at protein level). Ref.7 |
| Sequence similarities | Belongs to the GBP family. Atlastin subfamily. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| Reep5 | Q60870 | 2 | EBI-2410430,EBI-2410304 | From a different organism. |
| Rtn3 | Q9ES97-3 | 2 | EBI-2410430,EBI-1487798 | From a different organism. |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] Note: Named isoforms=2. | ||||||
| Isoform 1 (identifier: Q8NHH9-1) Also known as: AT2b; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8NHH9-2) Also known as: AT2a; The sequence of this isoform differs from the canonical sequence as follows: 546-583: LKPLGDNLMEENIRQSVTNSIKAGLTDQVSHHARLKTD → FSKLFEVTRRRMVHRALSSAQRQRLSSNNNKKKN | ||||||
| Isoform 3 (identifier: Q8NHH9-3) The sequence of this isoform differs from the canonical sequence as follows: 1-171: Missing. | ||||||
| Isoform 4 (identifier: Q8NHH9-4) The sequence of this isoform differs from the canonical sequence as follows: 1-39: MAEGDEAARGQQPHQGLWRRRRTSDPSAAVNHVSSTTSL → MVLKKGIKFFQRLINSKSLRF 545-583: VLKPLGDNLM...VSHHARLKTD → RSPRKVFSKL...LSSNNNKKKN |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 583 | 583 | Atlastin-2 | PRO_0000287105 | |||||
Regions | |||||||||
| Topological domain | 1 – 476 | 476 | Cytoplasmic Ref.7 | ||||||
| Transmembrane | 477 – 497 | 21 | Helical; Potential | ||||||
| Topological domain | 498 – 499 | 2 | Lumenal Potential | ||||||
| Transmembrane | 500 – 520 | 21 | Helical; Potential | ||||||
| Topological domain | 521 – 583 | 63 | Cytoplasmic Ref.7 | ||||||
| Nucleotide binding | 101 – 108 | 8 | GTP Potential | ||||||
| Nucleotide binding | 173 – 177 | 5 | GTP Potential | ||||||
| Coiled coil | 256 – 284 | 29 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 24 | 1 | Phosphoserine Ref.8 Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 171 | 171 | Missing in isoform 3. | VSP_025309 | |||||
| Alternative sequence | 1 – 39 | 39 | MAEGD…STTSL → MVLKKGIKFFQRLINSKSLR F in isoform 4. | VSP_041604 | |||||
| Alternative sequence | 545 – 583 | 39 | VLKPL…RLKTD → RSPRKVFSKLFEVTRRRMVH RALSSAQRQRLSSNNNKKKN in isoform 4. | VSP_041605 | |||||
| Alternative sequence | 546 – 583 | 38 | LKPLG…RLKTD → FSKLFEVTRRRMVHRALSSA QRQRLSSNNNKKKN in isoform 2. | VSP_025310 | |||||
| Natural variant | 18 | 1 | W → R. Ref.1 Corresponds to variant rs3731847 [ dbSNP | Ensembl ]. | VAR_032265 | |||||
| Natural variant | 272 | 1 | N → S. Corresponds to variant rs34873284 [ dbSNP | Ensembl ]. | VAR_032266 | |||||
| Natural variant | 420 | 1 | D → H. Corresponds to variant rs7582826 [ dbSNP | Ensembl ]. | VAR_032267 | |||||
Experimental info | |||||||||
| Mutagenesis | 107 | 1 | K → A: Alters endoplasmic reticulum morphology. Ref.7 | ||||||
| Mutagenesis | 244 | 1 | R → Q: Alters endoplasmic reticulum morphogenesis. Ref.7 | ||||||
| Sequence conflict | 509 | 1 | G → E in BAB15598. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Physical/genetic map of the 2p22-2p21 region on chromosome 2." Gorry M.C., Zhang Y., Marks J.J., Suppe B., Hart P.S., Cortelli J.R., Pallos D., Hart T.C. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANT ARG-18. |
| [2] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4). Tissue: Cerebellum. |
| [3] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Colon. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: FUNCTION, TOPOLOGY, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-107 AND ARG-244, TISSUE SPECIFICITY. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH REEP5 AND RTN3. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-24, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF449187 AF449186 Genomic DNA. Translation: AAM97341.1.AF449187 AF449186 Genomic DNA. Translation: AAM97342.1.AK294049 mRNA. Translation: BAH11658.1. AK026946 mRNA. Translation: BAB15598.1. AK225190 mRNA. No translation available. AC016995 Genomic DNA. Translation: AAX88950.1. BC053508 mRNA. Translation: AAH53508.1. |
| IPI | IPI00007183. IPI00169267. IPI00845387. IPI01014314. |
| RefSeq | NP_001129145.1. NM_001135673.1. NP_071769.2. NM_022374.2. |
| UniGene | Hs.727652. |
3D structure databases | |
| ProteinModelPortal | Q8NHH9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NHH9. 3 interactions. |
| MINT | MINT-3295758. |
PTM databases | |
| PhosphoSite | Q8NHH9. |
Polymorphism databases | |
| DMDM | 147742983. |
Proteomic databases | |
| PaxDb | Q8NHH9. |
| PRIDE | Q8NHH9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000332337; ENSP00000333393; ENSG00000119787. ENST00000378954; ENSP00000368237; ENSG00000119787. ENST00000402054; ENSP00000384062; ENSG00000119787. ENST00000419554; ENSP00000415336; ENSG00000119787. ENST00000539122; ENSP00000446192; ENSG00000119787. |
| GeneID | 64225. |
| KEGG | hsa:64225. |
| UCSC | uc002rqq.3. human. uc002rqs.3. human. uc010ynm.2. human. |
Organism-specific databases | |
| CTD | 64225. |
| GeneCards | GC02M038522. |
| HGNC | HGNC:24047. ATL2. |
| HPA | HPA029108. |
| MIM | 609368. gene. |
| neXtProt | NX_Q8NHH9. |
| PharmGKB | PA164716322. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG325148. |
| HOGENOM | HOG000234332. |
| HOVERGEN | HBG062891. |
| InParanoid | Q8NHH9. |
| OMA | QPHQGLR. |
| OrthoDB | EOG4255SJ. |
Gene expression databases | |
| ArrayExpress | Q8NHH9. |
| Bgee | Q8NHH9. |
| CleanEx | HS_ATL2. |
| Genevestigator | Q8NHH9. |
Family and domain databases | |
| InterPro | IPR003191. Guanylate-bd_C. IPR015894. Guanylate-bd_N. [Graphical view] |
| Pfam | PF02263. GBP. 1 hit. PF02841. GBP_C. 1 hit. [Graphical view] |
| SUPFAM | SSF48340. GBP. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 64225. |
| NextBio | 66162. |
| SOURCE | Search... |
Entry information
| Entry name | ATLA2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NHH9 Secondary accession number(s): B7Z1X2 Q9H5M7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| 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 2 Human chromosome 2: 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
