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Q9Y238 (DLEC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Deleted in lung and esophageal cancer protein 1
Alternative name(s):
Deleted in lung cancer protein 1
Short name=DLC-1
Gene names
Name:DLEC1
Synonyms:DLC1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1755 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May act as a tumor suppressor by inhibiting cell proliferation. Ref.1

Subcellular location

Cytoplasm Ref.1.

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 componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseTumor suppressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processnegative regulation of cell proliferation

Traceable author statement. Source: ProtInc

   Cellular componentcytoplasm

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 17551755Deleted in lung and esophageal cancer protein 1
PRO_0000079929

Natural variations

Alternative sequence7041E → MARLRGGRIPAMPQPSPGQP AGTQWCFQGTVFALQ in isoform 2. Ref.2
VSP_051847
Alternative sequence856 – 88530GPALI…IQIRN → PFSLVCSAWGRKPQTPSRSG TSASSQPHGA in isoform 2. Ref.2
VSP_051848
Alternative sequence886 – 1755870Missing in isoform 2. Ref.2
VSP_051849
Alternative sequence1675 – 175581QQEPA…LPHQP → VVSCTSPRWWWKVCSVRSPA PCGSGAKAPMMRDTCCLTSP EAPPQPSAPGPSWRKNIAQG LGAALQHKDTDLGTWGPLGS SWNGRTPFHNGLSLGPHDMS SELT in isoform 3. Ref.2
VSP_051850
Natural variant791L → R.
Corresponds to variant rs7625806 [ dbSNP | Ensembl ].
VAR_056860
Natural variant1921S → F.
Corresponds to variant rs34012183 [ dbSNP | Ensembl ].
VAR_056861
Natural variant3511P → R in a breast cancer sample; somatic mutation. Ref.4
VAR_035908
Natural variant10221K → N.
Corresponds to variant rs36012922 [ dbSNP | Ensembl ].
VAR_056862
Natural variant11501N → D.
Corresponds to variant rs9840172 [ dbSNP | Ensembl ].
VAR_056863
Natural variant12271L → P.
Corresponds to variant rs9810085 [ dbSNP | Ensembl ].
VAR_056864

Experimental info

Sequence conflict7041E → M in CAB70884. Ref.2
Sequence conflict14421G → R in BAA77624. Ref.1
Sequence conflict14421G → R in BAA77247. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: CD4BDB5EEF24DF98

FASTA1,755195,684
        10         20         30         40         50         60 
METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA YSEAFHYSFA 

        70         80         90        100        110        120 
ARPRRLTQLA LAQRPEPQLL RLRPSSLRTQ DISHLLTGVF RNLYSAEVIG DEVSASLIKA 

       130        140        150        160        170        180 
RGSENERHEE FVDQLQQIRE LYKQRLDEFE MLERHITQAQ ARAIAENERV MSQAGVQDLE 

       190        200        210        220        230        240 
SLVRLPPVKS VSRWCIDSEL LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK 

       250        260        270        280        290        300 
RSVQKKELNK KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN 

       310        320        330        340        350        360 
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK PAPIGEFQST 

       370        380        390        400        410        420 
EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT TTSRYLRVLP PSTPYFALGL 

       430        440        450        460        470        480 
GMFPGKGGMV APGMTCQYIV QFFPDCLGDF DDFILVETQS AHTLLIPLQA RRPPPVLTLS 

       490        500        510        520        530        540 
PVLDCGYCLI GGVKMTRFIC KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL 

       550        560        570        580        590        600 
PSVFELAPGH AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG 

       610        620        630        640        650        660 
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI MKPNLQPLMP 

       670        680        690        700        710        720 
GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF SPHELRDFHS VLQMVLEEVP 

       730        740        750        760        770        780 
EPVSSEAESL GHSSYSVDDV IVLEIEVKGS VEPFQVLLEP YALIIPGENY IGINVKKAFK 

       790        800        810        820        830        840 
MWNNSKSPIR YLWGKISDCH IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE 

       850        860        870        880        890        900 
DSPSPVVLHI EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV 

       910        920        930        940        950        960 
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE NGAWSYLPVY 

       970        980        990       1000       1010       1020 
AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT QFHWGKLLGH QAEFCMVTVS 

      1030       1040       1050       1060       1070       1080 
PKHGLLGPSE ECQLKLELTA HTQEELTHLA LPCHVSGMKK PLVLGISGKP QGLQVAITIS 

      1090       1100       1110       1120       1130       1140 
KESSDCSTEQ WPGHPKELRL DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN 

      1150       1160       1170       1180       1190       1200 
SLSKKTSLPN MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ 

      1210       1220       1230       1240       1250       1260 
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY TIDQAQKEPA 

      1270       1280       1290       1300       1310       1320 
MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE DRLVELLVFY GPPFPLRDQA 

      1330       1340       1350       1360       1370       1380 
GNELVCPDTP EGGCLLWSPG PSSSSEFSHE TDSSVEGSSS ASNRVAQKLI SVILQAHEGV 

      1390       1400       1410       1420       1430       1440 
PSGHLYCISP KQVVVPAGGS STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI 

      1450       1460       1470       1480       1490       1500 
PGKRHRLQDF AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL 

      1510       1520       1530       1540       1550       1560 
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE ETASADKQLV 

      1570       1580       1590       1600       1610       1620 
LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA SGEREMVFTQ NLLLEYTNQT 

      1630       1640       1650       1660       1670       1680 
TQVVPLRAVV AVPELQLSTS WVDFGTCFVS QQRVREVYLM NLSGCRSYWT MLMGQQEPAK 

      1690       1700       1710       1720       1730       1740 
AAVAFRVSPN SGLLEARSAN APPTSIALQV FFTARSSELY ESTMVVEGVL GEKSCTLRLR 

      1750 
GQGSYDERYM LPHQP 

« Hide

Isoform 2 [UniParc].

Checksum: 4F420168922F4002
Show »

FASTA919102,903
Isoform 3 (1S3) [UniParc].

Checksum: F210AE22AEF86E6B
Show »

FASTA1,778197,898

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. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., 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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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.
IPIIPI00164104.
IPI00178066.
IPI00377259.
PIRT46351.
T46406.
RefSeqNP_031361.2. NM_007335.2.
NP_031363.2. NM_007337.2.
UniGeneHs.714499.

3D structure databases

ProteinModelPortalQ9Y238.
SMRQ9Y238. Positions 751-857.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Y238.

Polymorphism databases

DMDM296434480.

Proteomic databases

PRIDEQ9Y238.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308059; ENSP00000308597; ENSG00000008226.
GeneID9940.
KEGGhsa:9940.
UCSCuc003cho.1. human.
uc003chp.1. human.

Organism-specific databases

CTD9940.
GeneCardsGC03P038080.
H-InvDBHIX0003176.
HGNCHGNC:2899. DLEC1.
HPAHPA019077.
HPA020455.
MIM133239. phenotype.
211980. phenotype.
604050. gene.
neXtProtNX_Q9Y238.
Orphanet70482. Esophageal carcinoma.
PharmGKBPA27353.
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00390000006098.
HOVERGENHBG081444.
OMANNSSPCD.
OrthoDBEOG4NCMBV.

Gene expression databases

ArrayExpressQ9Y238.
BgeeQ9Y238.
CleanExHS_DLC1.
HS_DLEC1.
GenevestigatorQ9Y238.
GermOnlineENSG00000008226. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other

NextBio37502.
SOURCESearch...

Entry information

Entry nameDLEC1_HUMAN
AccessionPrimary (citable) accession number: Q9Y238
Secondary accession number(s): Q9NSW0, Q9NTG5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: May 18, 2010
Last modified: January 25, 2012
This is version 74 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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