Q9HCM3 (K1549_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 70.
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: UPF0606 protein KIAA1549 | ||
| Gene names |
| ||
| 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 | 1950 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Involvement in disease | A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. Ref.1 |
| Sequence similarities | Belongs to the UPF0606 family. |
| Sequence caution | The sequence AAH38232.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative promoter usage Alternative splicing Chromosomal rearrangement Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HCM3-1) Also known as: v2 long-form; 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: Q9HCM3-2) Also known as: v1 long-form; The sequence of this isoform differs from the canonical sequence as follows: 1867-1882: Missing. | ||||||
| Isoform 3 (identifier: Q9HCM3-3) Also known as: v1 short-form; The sequence of this isoform differs from the canonical sequence as follows: 1-1216: Missing. 1217-1222: AGNSVV → MVSAIF 1867-1882: Missing. | ||||||
| Note: Produced by alternative promoter usage. | ||||||
| Isoform 4 (identifier: Q9HCM3-4) Also known as: v2 short-form; The sequence of this isoform differs from the canonical sequence as follows: 1-1216: Missing. 1217-1222: AGNSVV → MVSAIF | ||||||
| Note: Produced by alternative promoter usage. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1950 | 1950 | UPF0606 protein KIAA1549 | PRO_0000342405 | |||||
Regions | |||||||||
| Transmembrane | 998 – 1018 | 21 | Helical; Potential | ||||||
| Transmembrane | 1299 – 1319 | 21 | Helical; Potential | ||||||
| Compositional bias | 494 – 764 | 271 | Ser-rich | ||||||
Sites | |||||||||
| Site | 1643 – 1644 | 2 | Breakpoint for translocation to form KIAA1549-BRAF fusion protein | ||||||
| Site | 1749 – 1750 | 2 | Breakpoint for translocation to form KIAA1549-BRAF fusion protein | ||||||
Amino acid modifications | |||||||||
| Modified residue | 1395 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 1584 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1216 | 1216 | Missing in isoform 3 and isoform 4. | VSP_040885 | |||||
| Alternative sequence | 1217 – 1222 | 6 | AGNSVV → MVSAIF in isoform 3 and isoform 4. | VSP_040886 | |||||
| Alternative sequence | 1867 – 1882 | 16 | Missing in isoform 2 and isoform 3. | VSP_034448 | |||||
| Natural variant | 448 | 1 | A → P. Corresponds to variant rs2718131 [ dbSNP | Ensembl ]. | VAR_044187 | |||||
| Natural variant | 652 | 1 | P → L. Ref.3 Corresponds to variant rs2774960 [ dbSNP | Ensembl ]. | VAR_057812 | |||||
| Natural variant | 851 | 1 | V → G. Corresponds to variant rs2354336 [ dbSNP | Ensembl ]. | VAR_044188 | |||||
Experimental info | |||||||||
| Sequence conflict | 486 | 1 | P → A in BAB13375. Ref.3 | ||||||
| Sequence conflict | 617 | 1 | R → G in BAB13375. Ref.3 | ||||||
| Sequence conflict | 849 | 1 | S → L in BAB13375. Ref.3 | ||||||
Sequences
| ||||||||||||||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas." Jones D.T.W., Kocialkowski S., Liu L., Pearson D.M., Backlund L.M., Ichimura K., Collins V.P. Cancer Res. 68:8673-8677(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2; 3 AND 4), DISEASE, CHROMOSOMAL REARRANGEMENT. Tissue: Brain. |
| [2] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 70-1950 (ISOFORM 2), VARIANT LEU-652. Tissue: Brain. |
| [4] | "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] OF 1128-1950 (ISOFORM 1). Tissue: Brain and Duodenum. |
| [5] | "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. Poustka A.Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1811-1950 (ISOFORM 2). Tissue: Testis. |
| [6] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1395, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AM989467 Genomic DNA. Translation: CAQ43105.1. AM989467 Genomic DNA. Translation: CAQ43106.1. AM989468 mRNA. Translation: CAQ43107.1. AM989469 mRNA. Translation: CAQ43108.1. AM989470 mRNA. Translation: CAQ43109.1. AM989471 mRNA. Translation: CAQ43110.1. AM989472 mRNA. Translation: CAQ43111.1. Different termination. AM989473 mRNA. Translation: CAQ43112.1. Different termination. AM989474 mRNA. Translation: CAQ43113.1. Different termination. AM989475 mRNA. Translation: CAQ43114.1. Different termination. AM989476 mRNA. Translation: CAQ43115.1. Different termination. AM989477 mRNA. Translation: CAQ43116.1. Different termination. AC018663 Genomic DNA. No translation available. AC083868 Genomic DNA. No translation available. AC093144 Genomic DNA. No translation available. AB046769 mRNA. Translation: BAB13375.2. BC038232 mRNA. Translation: AAH38232.1. Different initiation. BC091523 mRNA. Translation: AAH91523.1. AL136736 mRNA. Translation: CAB66670.2. |
| IPI | IPI00896475. IPI00926338. IPI01008832. IPI01009059. |
| RefSeq | NP_001158137.1. NM_001164665.1. NP_065961.2. NM_020910.2. |
| UniGene | Hs.605380. |
3D structure databases | |
| ProteinModelPortal | Q9HCM3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HCM3. 9 interactions. |
| STRING | 9606.ENSP00000242365. |
PTM databases | |
| PhosphoSite | Q9HCM3. |
Polymorphism databases | |
| DMDM | 193806180. |
Proteomic databases | |
| PaxDb | Q9HCM3. |
| PRIDE | Q9HCM3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000422774; ENSP00000416040; ENSG00000122778. ENST00000440172; ENSP00000406661; ENSG00000122778. |
| GeneID | 57670. |
| KEGG | hsa:57670. |
| UCSC | uc011kqi.2. human. uc011kqj.2. human. uc011kqk.2. human. uc011kql.2. human. |
Organism-specific databases | |
| CTD | 57670. |
| GeneCards | GC07M138516. |
| HGNC | HGNC:22219. KIAA1549. |
| HPA | HPA019560. |
| MIM | 613344. gene. |
| neXtProt | NX_Q9HCM3. |
| PharmGKB | PA162393138. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG70685. |
| HOVERGEN | HBG108038. |
| InParanoid | Q9HCM3. |
| OMA | MWRRATV. |
| OrthoDB | EOG4GMTW2. |
Gene expression databases | |
| Bgee | Q9HCM3. |
| CleanEx | HS_KIAA1549. |
| Genevestigator | Q9HCM3. |
Family and domain databases | |
| InterPro | IPR024606. DUF3827. [Graphical view] |
| PANTHER | PTHR21590. PTHR21590. 1 hit. |
| Pfam | PF12877. DUF3827. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57670. |
| NextBio | 2776. |
| SOURCE | Search... |
Entry information
| Entry name | K1549_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HCM3 Secondary accession number(s): B6HY55 Q9H0M3 | ||||||||
| 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
| Uncharacterized protein families (UPF) List of uncharacterized protein family (UPF) entries |
| 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 |
| 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
