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Entry version 142 (10 Feb 2021)
Sequence version 2 (18 May 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

  • negative regulation of cell population proliferation Source: ProtInc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9Y238

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DLEC1Imported
Synonyms:DLC11 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:2899, DLEC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604050, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y238

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000008226.19

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
9940

MalaCards human disease database

More...
MalaCardsi
DLEC1
MIMi133239, phenotype
211980, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000008226

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99977, Squamous cell carcinoma of the esophagus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27353

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y238, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DLEC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434480

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000799291 – 1755Deleted in lung and esophageal cancer protein 1Add BLAST1755

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y238

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9Y238

PeptideAtlas

More...
PeptideAtlasi
Q9Y238

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y238

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85633 [Q9Y238-1]
85634 [Q9Y238-2]
85635 [Q9Y238-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y238

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y238

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000008226, Expressed in right uterine tube and 152 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y238, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y238, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000008226, Tissue enhanced (epididymis, fallopian tube, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
115266, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q9Y238, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000308597

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y238, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQQ5, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000006098

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_003422_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y238

Identification of Orthologs from Complete Genome Data

More...
OMAi
YWDSLIC

Database of Orthologous Groups

More...
OrthoDBi
373519at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y238

TreeFam database of animal gene trees

More...
TreeFami
TF340616

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 7 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR033304, DLEC1
IPR013783, Ig-like_fold

The PANTHER Classification System

More...
PANTHERi
PTHR46348, PTHR46348, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: At least six differentially spliced products may exist.1 Publication

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
Length:1,755
Mass (Da):195,684
Last modified:May 18, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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: 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q32W76Q32W76_HUMAN
Deleted in lung and esophageal canc...
DLEC1
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAB70676 differs from that shown. Intron retention.Curated
The sequence CAB70884 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti704E → M in CAB70884 (PubMed:16641997).Curated1
Sequence conflicti1442G → R in BAA77624 (PubMed:10213508).Curated1
Sequence conflicti1442G → R in BAA77247 (PubMed:10213508).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05686079L → R. Corresponds to variant dbSNP:rs7625806Ensembl.1
Natural variantiVAR_056861192S → F. Corresponds to variant dbSNP:rs34012183EnsemblClinVar.1
Natural variantiVAR_035908351P → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0568621022K → N. Corresponds to variant dbSNP:rs36012922EnsemblClinVar.1
Natural variantiVAR_0568631150N → D. Corresponds to variant dbSNP:rs9840172EnsemblClinVar.1
Natural variantiVAR_0568641227L → P. Corresponds to variant dbSNP:rs9810085EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_051847704E → MARLRGGRIPAMPQPSPGQP AGTQWCFQGTVFALQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_051848856 – 885GPALI…IQIRN → PFSLVCSAWGRKPQTPSRSG TSASSQPHGA in isoform 2. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_051849886 – 1755Missing in isoform 2. 1 PublicationAdd BLAST870
Alternative sequenceiVSP_0518501675 – 1755QQEPA…LPHQP → VVSCTSPRWWWKVCSVRSPA PCGSGAKAPMMRDTCCLTSP EAPPQPSAPGPSWRKNIAQG LGAALQHKDTDLGTWGPLGS SWNGRTPFHNGLSLGPHDMS SELT in isoform 3. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2672.2 [Q9Y238-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46351
T46406

NCBI Reference Sequences

More...
RefSeqi
NP_001308082.1, NM_001321153.1
NP_031361.2, NM_007335.3 [Q9Y238-1]
NP_031363.2, NM_007337.3 [Q9Y238-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000308059; ENSP00000308597; ENSG00000008226 [Q9Y238-1]
ENST00000346219; ENSP00000315914; ENSG00000008226 [Q9Y238-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9940

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9940

UCSC genome browser

More...
UCSCi
uc003cho.2, human [Q9Y238-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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_001308082.1, NM_001321153.1
NP_031361.2, NM_007335.3 [Q9Y238-1]
NP_031363.2, NM_007337.3 [Q9Y238-3]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115266, 3 interactors
IntActiQ9Y238, 2 interactors
STRINGi9606.ENSP00000308597

PTM databases

iPTMnetiQ9Y238
PhosphoSitePlusiQ9Y238

Genetic variation databases

BioMutaiDLEC1
DMDMi296434480

Proteomic databases

MassIVEiQ9Y238
PaxDbiQ9Y238
PeptideAtlasiQ9Y238
PRIDEiQ9Y238
ProteomicsDBi85633 [Q9Y238-1]
85634 [Q9Y238-2]
85635 [Q9Y238-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
6364, 171 antibodies

The DNASU plasmid repository

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DNASUi
9940

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9940
DisGeNETi9940

GeneCards: human genes, protein and diseases

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GeneCardsi
DLEC1
HGNCiHGNC:2899, DLEC1
HPAiENSG00000008226, Tissue enhanced (epididymis, fallopian tube, testis)
MalaCardsiDLEC1
MIMi133239, phenotype
211980, phenotype
604050, gene
neXtProtiNX_Q9Y238
OpenTargetsiENSG00000008226
Orphaneti99977, Squamous cell carcinoma of the esophagus
PharmGKBiPA27353
VEuPathDBiHostDB:ENSG00000008226.19

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QQQ5, Eukaryota
GeneTreeiENSGT00390000006098
HOGENOMiCLU_003422_0_0_1
InParanoidiQ9Y238
OMAiYWDSLIC
OrthoDBi373519at2759
PhylomeDBiQ9Y238
TreeFamiTF340616

Enzyme and pathway databases

PathwayCommonsiQ9Y238

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9940, 5 hits in 869 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DLEC1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9940
PharosiQ9Y238, Tbio

Protein Ontology

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PROi
PR:Q9Y238
RNActiQ9Y238, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000008226, Expressed in right uterine tube and 152 other tissues
ExpressionAtlasiQ9Y238, baseline and differential
GenevisibleiQ9Y238, HS

Family and domain databases

Gene3Di2.60.40.10, 7 hits
InterProiView protein in InterPro
IPR033304, DLEC1
IPR013783, Ig-like_fold
PANTHERiPTHR46348, PTHR46348, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDLEC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y238
Secondary accession number(s): Q9NSW0, Q9NTG5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: May 18, 2010
Last modified: February 10, 2021
This is version 142 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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