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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-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

HGNCiHGNC:2907. DLK1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 303ExtracellularSequence analysisAdd BLAST280
Transmembranei304 – 327HelicalSequence analysisAdd BLAST24
Topological domaini328 – 383CytoplasmicSequence analysisAdd BLAST56

GO - Cellular componenti

  • extracellular space Source: HGNC
  • integral component of membrane Source: ProtInc

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

EPDiP80370.
PaxDbiP80370.
PeptideAtlasiP80370.
PRIDEiP80370.

PTM databases

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.
GeneTreeiENSGT00890000139375.
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: August 30, 2017
This is version 179 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

Documents

  1. Human chromosome 14
    Human chromosome 14: 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