Q9BSJ5 (CQ080_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 74.
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: Uncharacterized protein C17orf80 Alternative name(s): Cell migration-inducing gene 3 protein Human lung cancer oncogene 8 protein Short name=HLC-8 | ||||
| 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 | 609 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Membrane; Single-pass membrane protein Potential. |
| Sequence caution | The sequence AAP72185.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAA91344.1 differs from that shown. Reason: Frameshift at position 121. The sequence BAB15680.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| 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 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BSJ5-1) 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: Q9BSJ5-2) The sequence of this isoform differs from the canonical sequence as follows: 505-540: Missing. | ||||||
| Isoform 3 (identifier: Q9BSJ5-3) The sequence of this isoform differs from the canonical sequence as follows: 578-583: KLCRPL → LQRWRK 584-609: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 609 | 609 | Uncharacterized protein C17orf80 | PRO_0000284612 | |||||
Regions | |||||||||
| Topological domain | 1 – 552 | 552 | Extracellular Potential | ||||||
| Transmembrane | 553 – 573 | 21 | Helical; Potential | ||||||
| Topological domain | 574 – 609 | 36 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 505 – 540 | 36 | Missing in isoform 2. | VSP_024572 | |||||
| Alternative sequence | 578 – 583 | 6 | KLCRPL → LQRWRK in isoform 3. | VSP_024573 | |||||
| Alternative sequence | 584 – 609 | 26 | Missing in isoform 3. | VSP_024574 | |||||
| Natural variant | 226 | 1 | G → S. Corresponds to variant rs9902726 [ dbSNP | Ensembl ]. | VAR_031779 | |||||
| Natural variant | 322 | 1 | K → Q. Corresponds to variant rs34784472 [ dbSNP | Ensembl ]. | VAR_031780 | |||||
| Natural variant | 356 | 1 | F → L. Ref.1 Corresponds to variant rs745143 [ dbSNP | Ensembl ]. | VAR_031781 | |||||
| Natural variant | 395 | 1 | H → N. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Corresponds to variant rs904384 [ dbSNP | Ensembl ]. | VAR_031782 | |||||
| Natural variant | 396 | 1 | C → R. Ref.1 Corresponds to variant rs904383 [ dbSNP | Ensembl ]. | VAR_031783 | |||||
| Natural variant | 420 | 1 | Q → H. Ref.1 Ref.3 Corresponds to variant rs745142 [ dbSNP | Ensembl ]. | VAR_031784 | |||||
| Natural variant | 522 | 1 | A → T. Ref.1 Ref.3 Corresponds to variant rs1566286 [ dbSNP | Ensembl ]. | VAR_031785 | |||||
Experimental info | |||||||||
| Sequence conflict | 33 | 1 | P → S in CAB66674. Ref.2 | ||||||
| Sequence conflict | 484 | 1 | C → R in BAB15680. Ref.4 | ||||||
| Sequence conflict | 536 | 1 | G → R in BAA91344. Ref.4 | ||||||
Sequences
| ||||||||||||||||||||||||||||||
References
| [1] | "Identification of a new human cancer-related gene (HLC-8)." Kim J.W. Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 377-609 (ISOFORM 1), VARIANTS LEU-356; ASN-395; ARG-396; HIS-420 AND THR-522. |
| [2] | "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] (ISOFORM 2), VARIANT ASN-395. Tissue: Testis. |
| [3] | "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 3), VARIANTS ASN-395; HIS-420 AND THR-522. Tissue: Lung and Trachea. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-395. |
| [6] | "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 1), VARIANT ASN-395. Tissue: Kidney. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY163812 mRNA. Translation: AAO25513.1. AY239293 mRNA. Translation: AAP72185.1. Different initiation. AL136740 mRNA. Translation: CAB66674.1. AK000728 mRNA. Translation: BAA91344.1. Frameshift. AK027166 mRNA. Translation: BAB15680.1. Different initiation. AK292838 mRNA. Translation: BAF85527.1. AC087301 Genomic DNA. No translation available. AC097641 Genomic DNA. No translation available. CH471099 Genomic DNA. Translation: EAW89118.1. BC005005 mRNA. Translation: AAH05005.1. |
| IPI | IPI00153031. IPI00300242. IPI00844397. |
| RefSeq | NP_001094091.1. NM_001100621.1. NP_001094092.1. NM_001100622.1. NP_060411.2. NM_017941.4. |
| UniGene | Hs.12929. |
3D structure databases | |
| ProteinModelPortal | Q9BSJ5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BSJ5. 1 interaction. |
| STRING | 9606.ENSP00000351937. |
PTM databases | |
| PhosphoSite | Q9BSJ5. |
Polymorphism databases | |
| DMDM | 74733017. |
Proteomic databases | |
| PaxDb | Q9BSJ5. |
| PRIDE | Q9BSJ5. |
Protocols and materials databases | |
| DNASU | 55028. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000268942; ENSP00000268942; ENSG00000141219. ENST00000359042; ENSP00000351937; ENSG00000141219. ENST00000426147; ENSP00000396970; ENSG00000141219. ENST00000535032; ENSP00000440551; ENSG00000141219. ENST00000577615; ENSP00000464132; ENSG00000141219. |
| GeneID | 55028. |
| KEGG | hsa:55028. |
| UCSC | uc002jjk.1. human. uc002jjl.4. human. uc002jjm.4. human. |
Organism-specific databases | |
| CTD | 55028. |
| GeneCards | GC17P071228. |
| HGNC | HGNC:29601. C17orf80. |
| HPA | HPA012896. |
| neXtProt | NX_Q9BSJ5. |
| PharmGKB | PA143485404. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG38808. |
| HOVERGEN | HBG057035. |
| InParanoid | Q9BSJ5. |
| OMA | CKKPFKR. |
| OrthoDB | EOG4CRKZP. |
| PhylomeDB | Q9BSJ5. |
Gene expression databases | |
| ArrayExpress | Q9BSJ5. |
| Bgee | Q9BSJ5. |
| CleanEx | HS_C17orf80. |
| Genevestigator | Q9BSJ5. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| ChiTaRS | C17orf80. human. |
| GenomeRNAi | 55028. |
| NextBio | 58435. |
Entry information
| Entry name | CQ080_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BSJ5 Secondary accession number(s): A8K9X3 Q9NWN5 | ||||||||
| 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 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 |

Clusters with
