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Protein

Deleted in lung and esophageal cancer protein 1

Gene

DLEC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

  • negative regulation of cell proliferation Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Deleted in lung and esophageal cancer protein 1
Alternative name(s):
Deleted in lung cancer protein 1
Short name:
DLC-1
Gene namesi
Name:DLEC1Imported
Synonyms:DLC11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2899. DLEC1.

Subcellular locationi

  • Cytoplasm 1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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).

Lung cancer (LNCR)
The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription are implicated in the development of lung cancer.
Disease descriptionA 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.
See also OMIM:211980
Esophageal cancer (ESCR)1 Publication
The gene represented in this entry may be involved in disease pathogenesis. DLEC1 silencing due to promoter methylation and aberrant transcription may be implicated in the development of esophageal cancer.
Disease descriptionA 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.
See also OMIM:133239

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

MalaCardsiDLEC1.
MIMi133239. phenotype.
211980. phenotype.
PharmGKBiPA27353.

Polymorphism and mutation databases

BioMutaiDLEC1.
DMDMi296434480.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 17551755Deleted in lung and esophageal cancer protein 1PRO_0000079929Add
BLAST

Proteomic databases

EPDiQ9Y238.
PaxDbiQ9Y238.
PRIDEiQ9Y238.

PTM databases

iPTMnetiQ9Y238.
PhosphoSiteiQ9Y238.

Expressioni

Tissue specificityi

Expressed in all tissues examined. Expression is highest in prostate and testis.1 Publication

Gene expression databases

BgeeiQ9Y238.
CleanExiHS_DLC1.
HS_DLEC1.
ExpressionAtlasiQ9Y238. baseline and differential.
GenevisibleiQ9Y238. HS.

Organism-specific databases

HPAiHPA019077.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000308597.

Structurei

3D structure databases

ProteinModelPortaliQ9Y238.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IFYS. Eukaryota.
ENOG410YKY2. LUCA.
GeneTreeiENSGT00390000006098.
HOGENOMiHOG000168427.
HOVERGENiHBG081444.
InParanoidiQ9Y238.
OMAiVREVYLM.
OrthoDBiEOG789C9D.
PhylomeDBiQ9Y238.
TreeFamiTF340616.

Family and domain databases

InterProiIPR033304. DLEC1.
[Graphical view]
PANTHERiPTHR23053:SF12. PTHR23053:SF12. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: At least six differentially spliced products may exist.1 Publication

Isoform 11 Publication (identifier: Q9Y238-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
METRSSKTRR SLASRTNECQ GTMWAPTSPP AGSSSPSQPT WKSSLYSSLA
60 70 80 90 100
YSEAFHYSFA ARPRRLTQLA LAQRPEPQLL RLRPSSLRTQ DISHLLTGVF
110 120 130 140 150
RNLYSAEVIG DEVSASLIKA RGSENERHEE FVDQLQQIRE LYKQRLDEFE
160 170 180 190 200
MLERHITQAQ ARAIAENERV MSQAGVQDLE SLVRLPPVKS VSRWCIDSEL
210 220 230 240 250
LRKHHLISPE DYYTDTVPFH SAPKGISLPG CSKLTFSCEK RSVQKKELNK
260 270 280 290 300
KLEDSCRKKL AEFEDELDHT VDSLTWNLTP KAKERTREPL KKASQPRNKN
310 320 330 340 350
WMNHLRVPQR ELDRLLLARM ESRNHFLKNP RFFPPNTRYG GKSLVFPPKK
360 370 380 390 400
PAPIGEFQST EPEQSCADTP VFLAKPPIGF FTDYEIGPVY EMVIALQNTT
410 420 430 440 450
TTSRYLRVLP PSTPYFALGL GMFPGKGGMV APGMTCQYIV QFFPDCLGDF
460 470 480 490 500
DDFILVETQS AHTLLIPLQA RRPPPVLTLS PVLDCGYCLI GGVKMTRFIC
510 520 530 540 550
KNVGFSVGRF CIMPKTSWPP LSFKAIATVG FVEQPPFGIL PSVFELAPGH
560 570 580 590 600
AILVEVLFSP KSLGKAEQTF IIMCDNCQIK ELVTIGIGQL IALDLIYISG
610 620 630 640 650
EKSQPDPGEL TDLTAQHFIR FEPENLRSTA RKQLIIRNAT HVELAFYWQI
660 670 680 690 700
MKPNLQPLMP GETFSMDSIK CYPDKETAFS IMPRKGVLSP HTDHEFILSF
710 720 730 740 750
SPHELRDFHS VLQMVLEEVP EPVSSEAESL GHSSYSVDDV IVLEIEVKGS
760 770 780 790 800
VEPFQVLLEP YALIIPGENY IGINVKKAFK MWNNSKSPIR YLWGKISDCH
810 820 830 840 850
IIEVEPGTGV IEPSEVGDFE LNFTGGVPGP TSQDLLCEIE DSPSPVVLHI
860 870 880 890 900
EAVFKGPALI INVSALQFGL LRLGQKATNS IQIRNVSQLP ATWRMKESPV
910 920 930 940 950
SLQERPEDVS PFDIEPSSGQ LHSLGECRVD ITLEALHCQH LETVLELEVE
960 970 980 990 1000
NGAWSYLPVY AEVQKPHVYL QSSQVEVRNL YLGVPTKTTI TLINGTLLPT
1010 1020 1030 1040 1050
QFHWGKLLGH QAEFCMVTVS PKHGLLGPSE ECQLKLELTA HTQEELTHLA
1060 1070 1080 1090 1100
LPCHVSGMKK PLVLGISGKP QGLQVAITIS KESSDCSTEQ WPGHPKELRL
1110 1120 1130 1140 1150
DFGSAVPLRT RVTRQLILTN RSPIRTRFSL KFEYFGSPQN SLSKKTSLPN
1160 1170 1180 1190 1200
MPPALLKTVR MQEHLAKREQ LDFMESMLSH GKGAAFFPHF SQGMLGPYQQ
1210 1220 1230 1240 1250
LCIDITGCAN MWGEYWDNLI CTVGDLLPEV IPVHMAAVGC PISSLRTTSY
1260 1270 1280 1290 1300
TIDQAQKEPA MRFGTQVSGG DTVTRTLRLN NSSPCDIRLD WETYVPEDKE
1310 1320 1330 1340 1350
DRLVELLVFY GPPFPLRDQA GNELVCPDTP EGGCLLWSPG PSSSSEFSHE
1360 1370 1380 1390 1400
TDSSVEGSSS ASNRVAQKLI SVILQAHEGV PSGHLYCISP KQVVVPAGGS
1410 1420 1430 1440 1450
STIYISFTPM VLSPEILHKV ECTGYALGFM SLDSKVEREI PGKRHRLQDF
1460 1470 1480 1490 1500
AVGPLKLDLH SYVRPAQLSV ELDYGGSMEF QCQASDLIPE QPCSGVLSEL
1510 1520 1530 1540 1550
VTTHHLKLTN TTEIPHYFRL MVSRPFSVSQ DGASQDHRAP GPGQKQECEE
1560 1570 1580 1590 1600
ETASADKQLV LQAQENMLVN VSFSLSLELL SYQKLPADQT LPGVDIQQSA
1610 1620 1630 1640 1650
SGEREMVFTQ NLLLEYTNQT TQVVPLRAVV AVPELQLSTS WVDFGTCFVS
1660 1670 1680 1690 1700
QQRVREVYLM NLSGCRSYWT MLMGQQEPAK AAVAFRVSPN SGLLEARSAN
1710 1720 1730 1740 1750
APPTSIALQV FFTARSSELY ESTMVVEGVL GEKSCTLRLR GQGSYDERYM

LPHQP
Note: No experimental confirmation available.Curated
Length:1,755
Mass (Da):195,684
Last modified:May 18, 2010 - v2
Checksum:iCD4BDB5EEF24DF98
GO
Isoform 2 (identifier: Q9Y238-2) [UniParc]FASTAAdd to basket

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.1 PublicationCurated
Show »
Length:919
Mass (Da):102,903
Checksum:i4F420168922F4002
GO
Isoform 3 (identifier: Q9Y238-3) [UniParc]FASTAAdd to basket

Also known as: 1S31 Publication

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.1 Publication
Show »
Length:1,778
Mass (Da):197,898
Checksum:iF210AE22AEF86E6B
GO

Sequence cautioni

The sequence CAB70676.1 differs from that shown.Intron retention.Curated
The sequence CAB70884.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti704 – 7041E → M in CAB70884 (PubMed:16641997).Curated
Sequence conflicti1442 – 14421G → R in BAA77624 (PubMed:10213508).Curated
Sequence conflicti1442 – 14421G → R in BAA77247 (PubMed:10213508).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti79 – 791L → R.
Corresponds to variant rs7625806 [ dbSNP | Ensembl ].
VAR_056860
Natural varianti192 – 1921S → F.
Corresponds to variant rs34012183 [ dbSNP | Ensembl ].
VAR_056861
Natural varianti351 – 3511P → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_035908
Natural varianti1022 – 10221K → N.
Corresponds to variant rs36012922 [ dbSNP | Ensembl ].
VAR_056862
Natural varianti1150 – 11501N → D.
Corresponds to variant rs9840172 [ dbSNP | Ensembl ].
VAR_056863
Natural varianti1227 – 12271L → P.
Corresponds to variant rs9810085 [ dbSNP | Ensembl ].
VAR_056864

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei704 – 7041E → MARLRGGRIPAMPQPSPGQP AGTQWCFQGTVFALQ in isoform 2. 1 PublicationVSP_051847
Alternative sequencei856 – 88530GPALI…IQIRN → PFSLVCSAWGRKPQTPSRSG TSASSQPHGA in isoform 2. 1 PublicationVSP_051848Add
BLAST
Alternative sequencei886 – 1755870Missing in isoform 2. 1 PublicationVSP_051849Add
BLAST
Alternative sequencei1675 – 175581QQEPA…LPHQP → VVSCTSPRWWWKVCSVRSPA PCGSGAKAPMMRDTCCLTSP EAPPQPSAPGPSWRKNIAQG LGAALQHKDTDLGTWGPLGS SWNGRTPFHNGLSLGPHDMS SELT in isoform 3. 1 PublicationVSP_051850Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2672.2. [Q9Y238-1]
PIRiT46351.
T46406.
RefSeqiNP_031361.2. NM_007335.3. [Q9Y238-1]
NP_031363.2. NM_007337.3. [Q9Y238-3]
UniGeneiHs.714499.

Genome annotation databases

EnsembliENST00000308059; ENSP00000308597; ENSG00000008226. [Q9Y238-1]
ENST00000346219; ENSP00000315914; ENSG00000008226. [Q9Y238-3]
GeneIDi9940.
KEGGihsa:9940.
UCSCiuc003cho.2. human. [Q9Y238-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2672.2. [Q9Y238-1]
PIRiT46351.
T46406.
RefSeqiNP_031361.2. NM_007335.3. [Q9Y238-1]
NP_031363.2. NM_007337.3. [Q9Y238-3]
UniGeneiHs.714499.

3D structure databases

ProteinModelPortaliQ9Y238.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000308597.

PTM databases

iPTMnetiQ9Y238.
PhosphoSiteiQ9Y238.

Polymorphism and mutation databases

BioMutaiDLEC1.
DMDMi296434480.

Proteomic databases

EPDiQ9Y238.
PaxDbiQ9Y238.
PRIDEiQ9Y238.

Protocols and materials databases

DNASUi9940.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308059; ENSP00000308597; ENSG00000008226. [Q9Y238-1]
ENST00000346219; ENSP00000315914; ENSG00000008226. [Q9Y238-3]
GeneIDi9940.
KEGGihsa:9940.
UCSCiuc003cho.2. human. [Q9Y238-1]

Organism-specific databases

CTDi9940.
GeneCardsiDLEC1.
H-InvDBHIX0003176.
HGNCiHGNC:2899. DLEC1.
HPAiHPA019077.
MalaCardsiDLEC1.
MIMi133239. phenotype.
211980. phenotype.
604050. gene.
neXtProtiNX_Q9Y238.
PharmGKBiPA27353.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFYS. Eukaryota.
ENOG410YKY2. LUCA.
GeneTreeiENSGT00390000006098.
HOGENOMiHOG000168427.
HOVERGENiHBG081444.
InParanoidiQ9Y238.
OMAiVREVYLM.
OrthoDBiEOG789C9D.
PhylomeDBiQ9Y238.
TreeFamiTF340616.

Miscellaneous databases

ChiTaRSiDLEC1. human.
GenomeRNAii9940.
PROiQ9Y238.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y238.
CleanExiHS_DLC1.
HS_DLEC1.
ExpressionAtlasiQ9Y238. baseline and differential.
GenevisibleiQ9Y238. HS.

Family and domain databases

InterProiIPR033304. DLEC1.
[Graphical view]
PANTHERiPTHR23053:SF12. PTHR23053:SF12. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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.
    , 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-351.

Entry informationi

Entry nameiDLEC1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y238
Secondary accession number(s): Q9NSW0, Q9NTG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: May 18, 2010
Last modified: June 8, 2016
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.