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Protein

Protein delta homolog 1

Gene

DLK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May have a role in neuroendocrine differentiation.

GO - Molecular functioni

GO - Biological processi

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

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:DLK1
Synonyms:DLK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000185559.13
HGNCiHGNC:2907 DLK1
MIMi176290 gene
neXtProtiNX_P80370

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
Topological domaini24 – 303ExtracellularSequence analysisAdd BLAST280
Transmembranei304 – 327HelicalSequence analysisAdd BLAST24
Topological domaini328 – 383CytoplasmicSequence analysisAdd BLAST56

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi8788
MalaCardsiDLK1
OpenTargetsiENSG00000185559
Orphaneti96184 Maternal uniparental disomy of chromosome 14
96334 Paternal uniparental disomy of chromosome 14
PharmGKBiPA27363

Chemistry databases

ChEMBLiCHEMBL5671

Polymorphism and mutation databases

BioMutaiDLK1
DMDMi296439371

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 233 PublicationsAdd BLAST23
ChainiPRO_000000751824 – 383Protein delta homolog 1Add BLAST360
ChainiPRO_000000751924 – 303Fetal antigen 1Add BLAST280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

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

PaxDbiP80370
PeptideAtlasiP80370
PRIDEiP80370

PTM databases

GlyConnecti745
iPTMnetiP80370
PhosphoSitePlusiP80370
UniCarbKBiP80370

Expressioni

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

BgeeiENSG00000185559
CleanExiHS_DLK1
ExpressionAtlasiP80370 baseline and differential
GenevisibleiP80370 HS

Organism-specific databases

HPAiCAB005872
HPA053879
HPA062262

Interactioni

Subunit structurei

Monomer.

Protein-protein interaction databases

BioGridi114316, 72 interactors
STRINGi9606.ENSP00000340292

Chemistry databases

BindingDBiP80370

Structurei

3D structure databases

ProteinModelPortaliP80370
SMRiP80370
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

eggNOGiKOG1217 Eukaryota
ENOG410XP6K LUCA
GeneTreeiENSGT00910000144018
HOGENOMiHOG000072581
HOVERGENiHBG007065
InParanoidiP80370
OMAiEIVANSC
OrthoDBiEOG091G0GAK
PhylomeDBiP80370
TreeFamiTF351835

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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
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
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

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
Sequence conflicti45 – 47Missing in CAA35582 (PubMed:2308864).Curated3
Sequence conflicti46 – 47QP → HV in CAA78163 (PubMed:8095043).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Alternative sequenceiVSP_001377229 – 301Missing in isoform Short. 1 PublicationAdd BLAST73

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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDLK1_HUMAN
AccessioniPrimary (citable) accession number: P80370
Secondary accession number(s): P15803, Q96DW5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: May 18, 2010
Last modified: April 25, 2018
This is version 184 of the entry and version 3 of the sequence. See 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, Direct protein sequencing, Reference proteome

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