Q9Y238 (DLEC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
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: Deleted in lung and esophageal cancer protein 1 Alternative name(s): Deleted in lung cancer protein 1 Short name=DLC-1 | ||||
| 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 | 1755 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May act as a tumor suppressor by inhibiting cell proliferation. Ref.1 |
| Subcellular location | |
| Tissue specificity | Expressed in all tissues examined. Expression is highest in prostate and testis. Ref.1 |
| Involvement in disease | Note=DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of different cancers, including esophageal (ESCR), renal and lung cancers (LNCR). Defects in DLEC1 are a cause of lung cancer (LNCR) [MIM:211980]. A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. Note=DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of lung cancer. Defects in DLEC1 are a cause of esophageal cancer (ESCR) [MIM:133239]. A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. Note=DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of esophageal cancer. |
| Sequence caution | The sequence CAB70676.1 differs from that shown. Reason: Intron retention. The sequence CAB70884.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Tumor suppressor |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | negative regulation of cell proliferation Traceable author statement. Source: ProtInc |
| Cellular component | cytoplasm Inferred from direct assay Ref.1. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: At least six differentially spliced products may exist. | ||||||
| Isoform 1 Ref.1 (identifier: Q9Y238-1) 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. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 Ref.2 (identifier: Q9Y238-2) The sequence of this isoform differs from the canonical sequence as follows: 704-704: E → MARLRGGRIPAMPQPSPGQPAGTQWCFQGTVFALQ 856-885: GPALIINVSALQFGLLRLGQKATNSIQIRN → PFSLVCSAWGRKPQTPSRSGTSASSQPHGA 886-1755: Missing. | ||||||
| Note: No experimental confirmation available. Levels of this splice isoform may be increased in cancer cell lines and primary cancers. | ||||||
| Isoform 3 Ref.2 (identifier: Q9Y238-3) Also known as: 1S3; The sequence of this isoform differs from the canonical sequence as follows: 1675-1755: QQEPAKAAVA...DERYMLPHQP → VVSCTSPRWW...GPHDMSSELT | ||||||
| Note: Levels of this splice isoform are increased in cancer cell lines and primary cancers. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1755 | 1755 | Deleted in lung and esophageal cancer protein 1 | PRO_0000079929 | |||||
Natural variations | |||||||||
| Alternative sequence | 704 | 1 | E → MARLRGGRIPAMPQPSPGQP AGTQWCFQGTVFALQ in isoform 2. Ref.2 | VSP_051847 | |||||
| Alternative sequence | 856 – 885 | 30 | GPALI…IQIRN → PFSLVCSAWGRKPQTPSRSG TSASSQPHGA in isoform 2. Ref.2 | VSP_051848 | |||||
| Alternative sequence | 886 – 1755 | 870 | Missing in isoform 2. Ref.2 | VSP_051849 | |||||
| Alternative sequence | 1675 – 1755 | 81 | QQEPA…LPHQP → VVSCTSPRWWWKVCSVRSPA PCGSGAKAPMMRDTCCLTSP EAPPQPSAPGPSWRKNIAQG LGAALQHKDTDLGTWGPLGS SWNGRTPFHNGLSLGPHDMS SELT in isoform 3. Ref.2 | VSP_051850 | |||||
| Natural variant | 79 | 1 | L → R. Corresponds to variant rs7625806 [ dbSNP | Ensembl ]. | VAR_056860 | |||||
| Natural variant | 192 | 1 | S → F. Corresponds to variant rs34012183 [ dbSNP | Ensembl ]. | VAR_056861 | |||||
| Natural variant | 351 | 1 | P → R in a breast cancer sample; somatic mutation. Ref.4 | VAR_035908 | |||||
| Natural variant | 1022 | 1 | K → N. Corresponds to variant rs36012922 [ dbSNP | Ensembl ]. | VAR_056862 | |||||
| Natural variant | 1150 | 1 | N → D. Corresponds to variant rs9840172 [ dbSNP | Ensembl ]. | VAR_056863 | |||||
| Natural variant | 1227 | 1 | L → P. Corresponds to variant rs9810085 [ dbSNP | Ensembl ]. | VAR_056864 | |||||
Experimental info | |||||||||
| Sequence conflict | 704 | 1 | E → M in CAB70884. Ref.2 | ||||||
| Sequence conflict | 1442 | 1 | G → R in BAA77624. Ref.1 | ||||||
| Sequence conflict | 1442 | 1 | G → R in BAA77247. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning of a candidate tumor suppressor gene, DLC1, from chromosome 3p21.3." Daigo Y., Nishiwaki T., Kawasoe T., Tamari M., Tsuchiya E., Nakamura Y. Cancer Res. 59:1966-1972(1999) [PubMed: 10213508] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, PUTATIVE FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN LUNG CANCER; ESOPHAGEAL CANCER AND RENAL CANCER. |
| [2] | "The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. Gibbs R.A.Nature 440:1194-1198(2006) [PubMed: 16641997] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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 595-1755 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1417-1755 (ISOFORM 3). Tissue: Testis. |
| [4] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-351. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB026898 Genomic DNA. Translation: BAA77624.1. AB020522 mRNA. Translation: BAA77247.1. AC144536 Genomic DNA. No translation available. AP006309 Genomic DNA. No translation available. AL137706 Transcribed RNA. Translation: CAB70884.2. Different initiation. AL137282 mRNA. Translation: CAB70676.1. Sequence problems. |
| IPI | IPI00164104. IPI00178066. IPI00377259. |
| PIR | T46351. T46406. |
| RefSeq | NP_031361.2. NM_007335.2. NP_031363.2. NM_007337.2. |
| UniGene | Hs.714499. |
3D structure databases | |
| ProteinModelPortal | Q9Y238. |
| SMR | Q9Y238. Positions 751-857. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9Y238. |
Polymorphism databases | |
| DMDM | 296434480. |
Proteomic databases | |
| PRIDE | Q9Y238. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000308059; ENSP00000308597; ENSG00000008226. |
| GeneID | 9940. |
| KEGG | hsa:9940. |
| UCSC | uc003cho.1. human. uc003chp.1. human. |
Organism-specific databases | |
| CTD | 9940. |
| GeneCards | GC03P038080. |
| H-InvDB | HIX0003176. |
| HGNC | HGNC:2899. DLEC1. |
| HPA | HPA019077. HPA020455. |
| MIM | 133239. phenotype. 211980. phenotype. 604050. gene. |
| neXtProt | NX_Q9Y238. |
| Orphanet | 70482. Esophageal carcinoma. |
| PharmGKB | PA27353. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00390000006098. |
| HOVERGEN | HBG081444. |
| OMA | NNSSPCD. |
| OrthoDB | EOG4NCMBV. |
Gene expression databases | |
| ArrayExpress | Q9Y238. |
| Bgee | Q9Y238. |
| CleanEx | HS_DLC1. HS_DLEC1. |
| Genevestigator | Q9Y238. |
| GermOnline | ENSG00000008226. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| NextBio | 37502. |
| SOURCE | Search... |
Entry information
| Entry name | DLEC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y238 Secondary accession number(s): Q9NSW0, Q9NTG5 | ||||||||
| 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 3 Human chromosome 3: 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 |

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