Reviewed,
UniProtKB/Swiss-Prot Q9HCF4 (ALO17_HUMAN)
Last modified
November 3, 2009.
Version 53.
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Protein ALO17 Alternative name(s): ALK lymphoma oligomerization partner on chromosome 17 | ||||
| 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 | 1550 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Involvement in disease | A chromosomal aberration involving ALO17 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| None. [Check GOA] | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HCF4-1) 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: Q9HCF4-2) The sequence of this isoform differs from the canonical sequence as follows: 1009-1063: SQTSILQGFS...LADVKHVFRL → VNNLSSWETD...SLAKGNGAEI 1064-1550: Missing. | ||||||
| Isoform 3 (identifier: Q9HCF4-3) The sequence of this isoform differs from the canonical sequence as follows: 87-87: E → EGATSEVLVDAAVDLISDEWEAANAIPSKRRKQDAAPLEAASVPSADCEQ |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1550 | 1550 | Protein ALO17 | PRO_0000253299 | |||||
Amino acid modifications | |||||||||
| Modified residue | 1188 | 1 | Phosphoserine Ref.5 | ||||||
| Modified residue | 1223 | 1 | N6-acetyllysine Ref.9 | ||||||
| Modified residue | 1258 | 1 | Phosphoserine Ref.6 Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 87 | 1 | E → EGATSEVLVDAAVDLISDEW EAANAIPSKRRKQDAAPLEA ASVPSADCEQ in isoform 3. | VSP_021007 | |||||
| Alternative sequence | 1009 – 1063 | 55 | SQTSI…HVFRL → VNNLSSWETDSGSQLCSAMT QLRAMKHPLGLSSSANSEIG KWAPSSLAKGNGAEI in isoform 2. | VSP_021008 | |||||
| Alternative sequence | 1064 – 1550 | 487 | Missing in isoform 2. | VSP_021009 | |||||
| Natural variant | 61 | 1 | P → L: dbSNP rs9913317. | VAR_056735 | |||||
| Natural variant | 270 | 1 | M → T: dbSNP rs17857135. Ref.2 | VAR_056736 | |||||
Experimental info | |||||||||
| Sequence conflict | 211 – 219 | 9 | SGGRGLSQE → LGQRPVPG in CAH10615. Ref.1 | ||||||
| Sequence conflict | 265 | 1 | Missing in CAH10615. Ref.1 | ||||||
| Sequence conflict | 321 | 1 | M → T in AAH36891. Ref.2 | ||||||
| Sequence conflict | 321 | 1 | M → T in AAH40341. Ref.2 | ||||||
| Sequence conflict | 369 | 1 | K → N in AAH36891. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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] (ISOFORM 2). Tissue: Melanoma. |
| [2] | "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), VARIANT THR-270. Tissue: Eye. |
| [3] | "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 136-1550 (ISOFORM 1). |
| [4] | "Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor." Cools J., Wlodarska I., Somers R., Mentens N., Pedeutour F., Maes B., De Wolf-Peeters C., Pauwels P., Hagemeijer A., Marynen P. Genes Chromosomes Cancer 34:354-362(2002) [PubMed: 12112524] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-163 (ISOFORMS 1/2 AND 2/3), CHROMOSOMAL TRANSLOCATION WITH ALK. |
| [5] | "Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1188, MASS SPECTROMETRY. |
| [6] | "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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY. |
| [7] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1258, MASS SPECTROMETRY. Tissue: Liver. |
| [8] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [9] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1223, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AL832920 mRNA. Translation: CAH10615.1. BC036891 mRNA. Translation: AAH36891.1. BC040341 mRNA. Translation: AAH40341.1. AB046838 mRNA. Translation: BAB13444.1. AF397204 mRNA. Translation: AAN63520.1. AF397205 mRNA. Translation: AAN63521.1. | |
| IPI | IPI00217287. IPI00218094. IPI00642126. |
| RefSeq | NP_066005.2. |
| UniGene | Hs.514554 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HCF4. 1 interaction. |
| STRING | Q9HCF4. |
PTM databases | |
| PhosphoSite | Q9HCF4. |
Proteomic databases | |
| PRIDE | Q9HCF4. |
Genome annotation databases | |
| Ensembl | ENST00000319921; ENSP00000324392; ENSG00000180843; Homo sapiens. [Genome view] ENST00000411702; ENSP00000396478; ENSG00000180843; Homo sapiens. [Genome view] ENST00000456466; ENSP00000392123; ENSG00000180843; Homo sapiens. [Genome view] |
| GeneID | 57714. |
| KEGG | hsa:57714. |
| UCSC | uc002jyf.1. human. uc002jyg.1. human. |
Organism-specific databases | |
| CTD | 57714. |
| GeneCards | GC17P075849. |
| HGNC | HGNC:19047. KIAA1618. |
| PharmGKB | PA134898812. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| OMA | SANSEIG. |
Gene expression databases | |
| ArrayExpress | Q9HCF4. |
| Bgee | Q9HCF4. |
| CleanEx | HS_KIAA1618. |
| Genevestigator | Q9HCF4. |
| GermOnline | ENSG00000180843. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 64628. |
| PMAP-CutDB | Q9HCF4. |
Entry information
| Entry name | ALO17_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HCF4 Secondary accession number(s): Q69YK7  Q8N406 | ||||||||
| 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 17 Human chromosome 17: 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 |
