Reviewed,
UniProtKB/Swiss-Prot Q9C0F0 (ASXL3_HUMAN)
Last modified
November 24, 2009.
Version 39.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Putative Polycomb group protein ASXL3 Alternative name(s): Additional sex combs-like protein 3 | ||||
| Gene names |
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| 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 | 2248 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility By similarity. |
| Subcellular location | Nucleus Probable. |
| Tissue specificity | Expressed in pancreatic islet, testis, neuroblastoma, head and neck tumor. Ref.6 |
| Sequence similarities | Belongs to the Asx family. Contains 3 LRR (leucine-rich) repeats. Contains 1 PHD-type zinc finger. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Leucine-rich repeat Repeat Zinc-finger |
| Ligand | Metal-binding Zinc |
| Molecular function | Repressor |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | zinc ion binding Inferred 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: Q9C0F0-1) 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: Q9C0F0-2) The sequence of this isoform differs from the canonical sequence as follows: 1-293: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9C0F0-3) The sequence of this isoform differs from the canonical sequence as follows: 1239-1254: SVCSTAISGAIKEHPF → KKKKKKKRAAALVLSL 1255-2248: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2248 | 2248 | Putative Polycomb group protein ASXL3 | PRO_0000320670 | |||||
Regions | |||||||||
| Repeat | 260 – 281 | 22 | LRR 1 | ||||||
| Repeat | 496 – 521 | 26 | LRR 2 | ||||||
| Repeat | 1556 – 1581 | 26 | LRR 3 | ||||||
| Zinc finger | 2210 – 2247 | 38 | PHD-type; atypical | ||||||
| Compositional bias | 609 – 787 | 179 | Ser-rich | ||||||
| Compositional bias | 1051 – 1080 | 30 | Ala-rich | ||||||
| Compositional bias | 1199 – 1357 | 159 | Ser-rich | ||||||
| Compositional bias | 2017 – 2058 | 42 | Pro-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 293 | 293 | Missing in isoform 2. | VSP_031717 | |||||
| Alternative sequence | 1239 – 1254 | 16 | SVCST…KEHPF → KKKKKKKRAAALVLSL in isoform 3. | VSP_031718 | |||||
| Alternative sequence | 1255 – 2248 | 994 | Missing in isoform 3. | VSP_031719 | |||||
| Natural variant | 954 | 1 | N → S: dbSNP rs2282632. Ref.3 Ref.5 | VAR_039267 | |||||
| Natural variant | 1415 | 1 | M → R: dbSNP rs16964887. | VAR_039268 | |||||
| Natural variant | 1652 | 1 | V → M: dbSNP rs17746949. | VAR_039269 | |||||
| Natural variant | 1708 | 1 | M → V: dbSNP rs7232237. Ref.3 Ref.2 | VAR_039270 | |||||
Experimental info | |||||||||
| Sequence conflict | 727 | 1 | E → K in BAD18599. Ref.2 | ||||||
| Sequence conflict | 1079 | 1 | A → V in CAB61377. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. Lander E.S.Nature 437:551-555(2005) [PubMed: 16177791] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] OF 1-1238 (ISOFORM 2), VARIANT VAL-1708. Tissue: Testis. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O. DNA Res. 7:347-355(2000) [PubMed: 11214970] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 597-2248, VARIANTS SER-954 AND VAL-1708. Tissue: Brain. |
| [4] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 818-2248 (ISOFORM 3), VARIANT SER-954. Tissue: Testis. |
| [6] | "Identification and characterization of ASXL3 gene in silico." Katoh M., Katoh M. Int. J. Oncol. 24:1617-1622(2004) [PubMed: 15138607] [Abstract] Cited for: IDENTIFICATION, TISSUE SPECIFICITY. |
Cross-references
Sequence databases | |
|---|---|
| AC023192 Genomic DNA. No translation available. AC090989 Genomic DNA. No translation available. AC010798 Genomic DNA. No translation available. AK056450 mRNA. Translation: BAB71186.1. Different initiation. AK131454 mRNA. Translation: BAD18599.1. AB051500 mRNA. Translation: BAB21804.2. AL133050 mRNA. Translation: CAB61377.1. | |
| IPI | IPI00853376. IPI00885069. IPI00885096. |
| PIR | T42653. |
| RefSeq | NP_085135.1. |
| UniGene | Hs.464876 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9C0F0. |
PTM databases | |
| PhosphoSite | Q9C0F0. |
Proteomic databases | |
| PRIDE | Q9C0F0. |
Genome annotation databases | |
| Ensembl | ENST00000269197; ENSP00000269197; ENSG00000141431; Homo sapiens. [Genome view] |
| GeneID | 80816. |
| KEGG | hsa:80816. |
| UCSC | uc002kxq.2. human. uc010dmg.1. human. |
Organism-specific databases | |
| CTD | 80816. |
| GeneCards | GC18P029413. |
| HGNC | HGNC:29357. ASXL3. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9C0F0. |
| OMA | PSDQKQP |
| OrthoDB | EOG9HB155 |
Gene expression databases | |
| ArrayExpress | Q9C0F0. |
| Bgee | Q9C0F0. |
| CleanEx | HS_ASXL3. |
| Genevestigator | Q9C0F0. |
Family and domain databases | |
| PROSITE | PS01359. ZF_PHD_1. False negative. PS50016. ZF_PHD_2. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 71202. |
Entry information
| Entry name | ASXL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9C0F0 Secondary accession number(s): Q6ZMX6, Q96MU3, Q9UFC5 | ||||||||
| Entry history |
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| 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 18 Human chromosome 18: 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 |

Clusters with


