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Protein

Protein delta homolog 1

Gene

DLK1

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 protein 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 have a role in neuroendocrine differentiation.

<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 - Molecular functioni

GO - Biological processi

  • cell differentiation Source: Ensembl
  • negative regulation of Notch signaling pathway Source: HGNC

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P80370

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P80370

<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_and_taxonomy_section">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:
Protein delta homolog 1
Short name:
DLK-1
Alternative name(s):
pG2
Cleaved into the following chain:
Fetal antigen 1
Short name:
FA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:DLK1
Synonyms:DLK
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000185559.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2907 DLK1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
176290 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P80370

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini24 – 303ExtracellularSequence analysisAdd BLAST280
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei304 – 327HelicalSequence analysisAdd BLAST24
Topological domaini328 – 383CytoplasmicSequence analysisAdd BLAST56

<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, Membrane

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
8788

MalaCards human disease database

More...
MalaCardsi
DLK1

Open Targets

More...
OpenTargetsi
ENSG00000185559

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

More...
Orphaneti
169615 Idiopathic central precocious puberty
254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
254531 Temple syndrome due to paternal 14q32.2 hypomethylation
254525 Temple syndrome due to paternal 14q32.2 microdeletion

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27363

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5671

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DLK1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439371

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 233 PublicationsAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000751824 – 383Protein delta homolog 1Add BLAST360
ChainiPRO_000000751924 – 303Fetal antigen 1Add BLAST280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi26 ↔ 37PROSITE-ProRule annotation
Disulfide bondi30 ↔ 43PROSITE-ProRule annotation
Disulfide bondi45 ↔ 54PROSITE-ProRule annotation
Disulfide bondi57 ↔ 68PROSITE-ProRule annotation
Disulfide bondi63 ↔ 74PROSITE-ProRule annotation
Disulfide bondi76 ↔ 85PROSITE-ProRule annotation
Disulfide bondi92 ↔ 103PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi94O-linked (GalNAc...) serine1 Publication1
Disulfide bondi97 ↔ 113PROSITE-ProRule annotation
Glycosylationi100N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi115 ↔ 124PROSITE-ProRule annotation
Disulfide bondi131 ↔ 144PROSITE-ProRule annotation
Disulfide bondi138 ↔ 156PROSITE-ProRule annotation
Glycosylationi143O-linked (GalNAc...) threonine1 Publication1
Disulfide bondi158 ↔ 167PROSITE-ProRule annotation
Glycosylationi163O-linked (GalNAc...) serine; partial1 Publication1
Glycosylationi165N-linked (GlcNAc...) asparagine; atypical; partial1 Publication1
Glycosylationi172N-linked (GlcNAc...) asparagine; atypical; partial1 Publication1
Disulfide bondi174 ↔ 185PROSITE-ProRule annotation
Disulfide bondi179 ↔ 194PROSITE-ProRule annotation
Disulfide bondi196 ↔ 205PROSITE-ProRule annotation
Disulfide bondi212 ↔ 223PROSITE-ProRule annotation
Glycosylationi214O-linked (GalNAc...) serine1 Publication1
Disulfide bondi217 ↔ 233PROSITE-ProRule annotation
Glycosylationi222O-linked (GalNAc...) threonine; partial1 Publication1
Disulfide bondi235 ↔ 244PROSITE-ProRule annotation
Glycosylationi251O-linked (GalNAc...) serine; partial1 Publication1
Glycosylationi256O-linked (GalNAc...) threonine1 Publication1
Glycosylationi260O-linked (GalNAc...) serine; partial1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

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PaxDbi
P80370

PeptideAtlas

More...
PeptideAtlasi
P80370

PRoteomics IDEntifications database

More...
PRIDEi
P80370

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57681
57682 [P80370-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
745

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P80370

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

More...
PhosphoSitePlusi
P80370

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P80370

<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

Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in some forms of neuroendocrine lung tumor tissue.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185559 Expressed in 157 organ(s), highest expression level in metanephros

CleanEx database of gene expression profiles

More...
CleanExi
HS_DLK1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P80370 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P80370 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB005872
HPA053879
HPA062262

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer. Interacts with SH3RF2 (By similarity).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114316, 72 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340292

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P80370

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P80370

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P80370

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini24 – 55EGF-like 1PROSITE-ProRule annotationAdd BLAST32
Domaini53 – 86EGF-like 2PROSITE-ProRule annotationAdd BLAST34
Domaini88 – 125EGF-like 3PROSITE-ProRule annotationAdd BLAST38
Domaini127 – 168EGF-like 4PROSITE-ProRule annotationAdd BLAST42
Domaini170 – 206EGF-like 5PROSITE-ProRule annotationAdd BLAST37
Domaini208 – 245EGF-like 6PROSITE-ProRule annotationAdd BLAST38

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1217 Eukaryota
ENOG410XP6K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154225

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000072581

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG007065

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P80370

Identification of Orthologs from Complete Genome Data

More...
OMAi
WLANAKY

Database of Orthologous Groups

More...
OrthoDBi
311898at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P80370

TreeFam database of animal gene trees

More...
TreeFami
TF351835

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 4 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 5 hits
PS01186 EGF_2, 5 hits
PS50026 EGF_3, 5 hits

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: P80370-1) [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
MTATEALLRV LLLLLAFGHS TYGAECFPAC NPQNGFCEDD NVCRCQPGWQ
60 70 80 90 100
GPLCDQCVTS PGCLHGLCGE PGQCICTDGW DGELCDRDVR ACSSAPCANN
110 120 130 140 150
RTCVSLDDGL YECSCAPGYS GKDCQKKDGP CVINGSPCQH GGTCVDDEGR
160 170 180 190 200
ASHASCLCPP GFSGNFCEIV ANSCTPNPCE NDGVCTDIGG DFRCRCPAGF
210 220 230 240 250
IDKTCSRPVT NCASSPCQNG GTCLQHTQVS YECLCKPEFT GLTCVKKRAL
260 270 280 290 300
SPQQVTRLPS GYGLAYRLTP GVHELPVQQP EHRILKVSMK ELNKKTPLLT
310 320 330 340 350
EGQAICFTIL GVLTSLVVLG TVGIVFLNKC ETWVSNLRYN HMLRKKKNLL
360 370 380
LQYNSGEDLA VNIIFPEKID MTTFSKEAGD EEI
Length:383
Mass (Da):41,300
Last modified:May 18, 2010 - v3
<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:i9A2813B2801A98BD
GO
Isoform Short (identifier: P80370-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-301: Missing.

Show »
Length:310
Mass (Da):33,067
Checksum:i938E477A8F5B4D86
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3XAH5G3XAH5_HUMAN
Protein delta homolog 1
DLK1
97Annotation 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>
G3V2R7G3V2R7_HUMAN
Protein delta homolog 1
DLK1
136Annotation 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 CAA35582 differs from that shown. Reason: Frameshift at positions 22, 108 and 199.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 conflicti45 – 47Missing in CAA35582 (PubMed:2308864).Curated3
Sequence conflicti46 – 47QP → HV in CAA78163 (PubMed:8095043).Curated2

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_05571573Q → L. Corresponds to variant dbSNP:rs34686110Ensembl.1
Natural variantiVAR_060335101R → G5 PublicationsCorresponds to variant dbSNP:rs6575799Ensembl.1
Natural variantiVAR_055716104V → M. Corresponds to variant dbSNP:rs2273607Ensembl.1
Natural variantiVAR_060336108D → G2 PublicationsCorresponds to variant dbSNP:rs1058006Ensembl.1
Natural variantiVAR_055717260S → N. Corresponds to variant dbSNP:rs1058009Ensembl.1
Natural variantiVAR_002274347Missing . 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_001377229 – 301Missing in isoform Short. 1 PublicationAdd BLAST73

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
Z12172 mRNA Translation: CAA78163.1
U15979 mRNA Translation: AAA75364.1
U15981 mRNA Translation: AAA75365.1
X17544 mRNA Translation: CAA35582.1 Frameshift.
AL132711 Genomic DNA No translation available.
BC013197 mRNA Translation: AAH13197.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS81852.1 [P80370-2]
CCDS9963.1 [P80370-1]

Protein sequence database of the Protein Information Resource

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PIRi
S53716
S71548

NCBI Reference Sequences

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RefSeqi
NP_001304101.1, NM_001317172.1
NP_003827.3, NM_003836.6

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.116631
Hs.533717

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000331224; ENSP00000331081; ENSG00000185559 [P80370-2]
ENST00000341267; ENSP00000340292; ENSG00000185559 [P80370-1]
ENST00000650464; ENSP00000497700; ENSG00000185559 [P80370-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8788

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:8788

UCSC genome browser

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UCSCi
uc001yhs.5 human [P80370-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
Z12172 mRNA Translation: CAA78163.1
U15979 mRNA Translation: AAA75364.1
U15981 mRNA Translation: AAA75365.1
X17544 mRNA Translation: CAA35582.1 Frameshift.
AL132711 Genomic DNA No translation available.
BC013197 mRNA Translation: AAH13197.1
CCDSiCCDS81852.1 [P80370-2]
CCDS9963.1 [P80370-1]
PIRiS53716
S71548
RefSeqiNP_001304101.1, NM_001317172.1
NP_003827.3, NM_003836.6
UniGeneiHs.116631
Hs.533717

3D structure databases

ProteinModelPortaliP80370
SMRiP80370
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114316, 72 interactors
STRINGi9606.ENSP00000340292

Chemistry databases

BindingDBiP80370
ChEMBLiCHEMBL5671

PTM databases

GlyConnecti745
iPTMnetiP80370
PhosphoSitePlusiP80370
UniCarbKBiP80370

Polymorphism and mutation databases

BioMutaiDLK1
DMDMi296439371

Proteomic databases

PaxDbiP80370
PeptideAtlasiP80370
PRIDEiP80370
ProteomicsDBi57681
57682 [P80370-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
8788
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331224; ENSP00000331081; ENSG00000185559 [P80370-2]
ENST00000341267; ENSP00000340292; ENSG00000185559 [P80370-1]
ENST00000650464; ENSP00000497700; ENSG00000185559 [P80370-1]
GeneIDi8788
KEGGihsa:8788
UCSCiuc001yhs.5 human [P80370-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
8788
DisGeNETi8788
EuPathDBiHostDB:ENSG00000185559.13

GeneCards: human genes, protein and diseases

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GeneCardsi
DLK1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0131238
HGNCiHGNC:2907 DLK1
HPAiCAB005872
HPA053879
HPA062262
MalaCardsiDLK1
MIMi176290 gene
neXtProtiNX_P80370
OpenTargetsiENSG00000185559
Orphaneti169615 Idiopathic central precocious puberty
254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
96184 Temple syndrome due to maternal uniparental disomy of chromosome 14
254531 Temple syndrome due to paternal 14q32.2 hypomethylation
254525 Temple syndrome due to paternal 14q32.2 microdeletion
PharmGKBiPA27363

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00940000154225
HOGENOMiHOG000072581
HOVERGENiHBG007065
InParanoidiP80370
OMAiWLANAKY
OrthoDBi311898at2759
PhylomeDBiP80370
TreeFamiTF351835

Enzyme and pathway databases

ReactomeiR-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
SignaLinkiP80370
SIGNORiP80370

Miscellaneous databases

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

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ChiTaRSi
DLK1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DLK1

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

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GenomeRNAii
8788

Protein Ontology

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PROi
PR:P80370

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000185559 Expressed in 157 organ(s), highest expression level in metanephros
CleanExiHS_DLK1
ExpressionAtlasiP80370 baseline and differential
GenevisibleiP80370 HS

Family and domain databases

InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
PfamiView protein in Pfam
PF00008 EGF, 4 hits
SMARTiView protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 4 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS00022 EGF_1, 5 hits
PS01186 EGF_2, 5 hits
PS50026 EGF_3, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiDLK1_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: P80370
Secondary accession number(s): P15803, Q96DW5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: May 18, 2010
Last modified: January 16, 2019
This is version 190 of the entry and version 3 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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