Q674R7 (ATG9B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 61.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Autophagy-related protein 9B Alternative name(s): APG9-like 2 Nitric oxide synthase 3-overlapping antisense gene protein Short name=Protein sONE | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 924 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Plays a role in autophagy By similarity. |
| Subcellular location | Cytoplasmic vesicle › autophagosome membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Highly expressed in placenta (trophoblast cells) and pituitary gland. Not expressed in vascular endothelial. Ref.1 |
| Induction | By hypoxia, leading to inhibit NOS3 expression. Ref.6 |
| Miscellaneous | ATG9B gene is located on the opposite DNA strand of the NOS3 gene at chromosome 7q36. The genes are oriented in a tail-to-tail configuration and the mRNAs encoding ATG9B and NOS3 are complementary for 662 nucleotides. ATG9B transcription may a role in NOS3 transcription regulation. |
| Sequence similarities | Belongs to the ATG9 family. |
| Sequence caution | The sequence AAQ86941.1 differs from that shown. Reason: Erroneous initiation. The sequence AC010973 differs from that shown. Reason: Frameshift at position 766. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Autophagy |
| Cellular component | Cytoplasmic vesicle Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | autophagic vacuole assembly Inferred from direct assay Ref.4. Source: MGI |
| Cellular component | autophagic vacuole membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmic vesicleInferred from electronic annotation. Source: UniProtKB-KW integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q674R7-1) 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: Q674R7-2) The sequence of this isoform differs from the canonical sequence as follows: 1-514: Missing. 515-572: RTAAPPAPLR...TALGVTATVA → MPSYPQPSVL...CFTGRPCTSP | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q674R7-3) The sequence of this isoform differs from the canonical sequence as follows: 322-340: EELSSVPWAEVQSRLLALQ → GKGREDTGMYWRGQPGGLD 341-924: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 924 | 924 | Autophagy-related protein 9B | PRO_0000314867 | |||||
Regions | |||||||||
| Topological domain | 1 – 207 | 207 | Cytoplasmic By similarity | ||||||
| Transmembrane | 208 – 228 | 21 | Helical; Potential | ||||||
| Topological domain | 229 – 276 | 48 | Lumenal By similarity | ||||||
| Transmembrane | 277 – 297 | 21 | Helical; Potential | ||||||
| Topological domain | 298 – 438 | 141 | Cytoplasmic By similarity | ||||||
| Transmembrane | 439 – 459 | 21 | Helical; Potential | ||||||
| Topological domain | 460 – 526 | 67 | Lumenal By similarity | ||||||
| Transmembrane | 527 – 547 | 21 | Helical; Potential | ||||||
| Topological domain | 548 – 551 | 4 | Cytoplasmic By similarity | ||||||
| Transmembrane | 552 – 572 | 21 | Helical; Potential | ||||||
| Topological domain | 573 – 624 | 52 | Lumenal By similarity | ||||||
| Transmembrane | 625 – 645 | 21 | Helical; Potential | ||||||
| Topological domain | 646 – 924 | 279 | Cytoplasmic By similarity | ||||||
| Compositional bias | 22 – 147 | 126 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 514 | 514 | Missing in isoform 2. | VSP_030410 | |||||
| Alternative sequence | 322 – 340 | 19 | EELSS…LLALQ → GKGREDTGMYWRGQPGGLD in isoform 3. | VSP_030411 | |||||
| Alternative sequence | 341 – 924 | 584 | Missing in isoform 3. | VSP_030412 | |||||
| Alternative sequence | 515 – 572 | 58 | RTAAP…TATVA → MPSYPQPSVLRGSAPARCWS SSWSWLPASGWSNCFAQSAT SSATGTSRCFTGRPCTSP in isoform 2. | VSP_030413 | |||||
| Natural variant | 166 | 1 | P → L. Corresponds to variant rs61078191 [ dbSNP | Ensembl ]. | VAR_061030 | |||||
Experimental info | |||||||||
| Sequence conflict | 12 | 1 | R → K in BAC04853. Ref.2 | ||||||
| Sequence conflict | 751 | 1 | S → P in AAQ86941. Ref.1 | ||||||
| Sequence conflict | 752 | 1 | T → P in AAQ86941. Ref.1 | ||||||
| Sequence conflict | 760 | 1 | T → A in AAQ86941. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Post-transcriptional regulation of endothelial nitric-oxide synthase by an overlapping antisense mRNA transcript." Robb G.B., Carson A.R., Tai S.C., Fish J.E., Singh S., Yamada T., Scherer S.W., Nakabayashi K., Marsden P.A. J. Biol. Chem. 279:37982-37996(2004) [PubMed: 15234981] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Testis. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta. |
| [3] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast." Yamada T., Carson A.R., Caniggia I., Umebayashi K., Yoshimori T., Nakabayashi K., Scherer S.W. J. Biol. Chem. 280:18283-18290(2005) [PubMed: 15755735] [Abstract] Cited for: IDENTIFICATION. |
| [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [6] | "Hypoxia-inducible expression of a natural cis-antisense transcript inhibits endothelial nitric-oxide synthase." Fish J.E., Matouk C.C., Yeboah E., Bevan S.C., Khan M., Patil K., Ohh M., Marsden P.A. J. Biol. Chem. 282:15652-15666(2007) [PubMed: 17403686] [Abstract] Cited for: INDUCTION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY515311 mRNA. Translation: AAS87212.1. AY316116 mRNA. Translation: AAQ86941.1. Different initiation. AK096734 mRNA. Translation: BAC04853.1. AC010973 Genomic DNA. No translation available. BC128587 mRNA. Translation: AAI28588.1. BK004019 mRNA. Translation: DAA05200.1. |
| IPI | IPI00465328. IPI00747506. IPI00827670. |
| RefSeq | NP_775952.4. NM_173681.5. |
| UniGene | Hs.707300. Hs.716846. |
3D structure databases | |
| ProteinModelPortal | Q674R7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q674R7. |
Polymorphism databases | |
| DMDM | 74708555. |
Proteomic databases | |
| PRIDE | Q674R7. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| GeneID | 285973. |
| KEGG | hsa:285973. |
Organism-specific databases | |
| CTD | 285973. |
| GeneCards | GC07M150710. |
| H-InvDB | HIX0007219. |
| HGNC | HGNC:21899. ATG9B. |
| neXtProt | NX_Q674R7. |
| PharmGKB | PA134883165. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG19445. |
| HOGENOM | HBG315812. |
| HOVERGEN | HBG050539. |
| InParanoid | Q674R7. |
| PhylomeDB | Q674R7. |
Gene expression databases | |
| ArrayExpress | Q674R7. |
| CleanEx | HS_ATG9B. |
| Genevestigator | Q674R7. |
Family and domain databases | |
| InterPro | IPR007241. Autophagy-rel_prot_9. [Graphical view] |
| PANTHER | PTHR13038. APG9. 1 hit. |
| Pfam | PF04109. APG9. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 95902. |
Entry information
| Entry name | ATG9B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q674R7 Secondary accession number(s): A1A5D3, Q6JRW5, Q8N8I8 | ||||||||
| Entry history |
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| 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 7 Human chromosome 7: 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 |
| SIMILARITY comments Index of protein domains and families |

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