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P80370 (DLK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein delta homolog 1

Short name=DLK-1
Alternative name(s):
pG2

Cleaved into the following chain:

  1. Fetal antigen 1
    Short name=FA1
Gene names
Name:DLK1
Synonyms:DLK
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length383 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May have a role in neuroendocrine differentiation.

Subunit structure

Monomer.

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

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.

Post-translational modification

N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans. Ref.6 Ref.9

Sequence similarities

Contains 6 EGF-like domains.

Sequence caution

The sequence CAA35582.1 differs from that shown. Reason: Frameshift at positions 22, 108 and 199.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform Long (identifier: P80370-1)

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.
Isoform Short (identifier: P80370-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Ref.6 Ref.7 Ref.8
Chain24 – 383360Protein delta homolog 1
PRO_0000007518
Chain24 – 303280Fetal antigen 1
PRO_0000007519

Regions

Topological domain24 – 303280Extracellular Potential
Transmembrane304 – 32724Helical; Potential
Topological domain328 – 38356Cytoplasmic Potential
Domain24 – 5532EGF-like 1
Domain53 – 8634EGF-like 2
Domain88 – 12538EGF-like 3
Domain127 – 16842EGF-like 4
Domain170 – 20637EGF-like 5
Domain208 – 24538EGF-like 6

Amino acid modifications

Glycosylation941O-linked (GalNAc...) Ref.6
Glycosylation1001N-linked (GlcNAc...) Ref.6
Glycosylation1431O-linked (GalNAc...) Ref.6
Glycosylation1631O-linked (GalNAc...); partial Ref.6
Glycosylation1651N-linked (GlcNAc...); partial; atypical Ref.6
Glycosylation1721N-linked (GlcNAc...); partial; atypical Ref.6
Glycosylation2141O-linked (GalNAc...) Ref.6
Glycosylation2221O-linked (GalNAc...); partial Ref.6
Glycosylation2511O-linked (GalNAc...); partial Ref.6
Glycosylation2561O-linked (GalNAc...) Ref.9
Glycosylation2601O-linked (GalNAc...); partial Ref.6
Disulfide bond26 ↔ 37 By similarity
Disulfide bond30 ↔ 43 By similarity
Disulfide bond45 ↔ 54 By similarity
Disulfide bond57 ↔ 68 By similarity
Disulfide bond63 ↔ 74 By similarity
Disulfide bond76 ↔ 85 By similarity
Disulfide bond92 ↔ 103 By similarity
Disulfide bond97 ↔ 113 By similarity
Disulfide bond115 ↔ 124 By similarity
Disulfide bond131 ↔ 144 By similarity
Disulfide bond138 ↔ 156 By similarity
Disulfide bond158 ↔ 167 By similarity
Disulfide bond174 ↔ 185 By similarity
Disulfide bond179 ↔ 194 By similarity
Disulfide bond196 ↔ 205 By similarity
Disulfide bond212 ↔ 223 By similarity
Disulfide bond217 ↔ 233 By similarity
Disulfide bond235 ↔ 244 By similarity

Natural variations

Alternative sequence229 – 30173Missing in isoform Short.
VSP_001377
Natural variant731Q → L.
Corresponds to variant rs34686110 [ dbSNP | Ensembl ].
VAR_055715
Natural variant1011R → G. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs6575799 [ dbSNP | Ensembl ].
VAR_060335
Natural variant1041V → M.
Corresponds to variant rs2273607 [ dbSNP | Ensembl ].
VAR_055716
Natural variant1081D → G. Ref.1 Ref.2
Corresponds to variant rs1058006 [ dbSNP | Ensembl ].
VAR_060336
Natural variant2601S → N.
Corresponds to variant rs1058009 [ dbSNP | Ensembl ].
VAR_055717
Natural variant3471Missing in clone HDLKAAG.
VAR_002274

Experimental info

Sequence conflict45 – 473Missing in CAA35582. Ref.3
Sequence conflict46 – 472QP → HV in CAA78163. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform Long [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 9A2813B2801A98BD

FASTA38341,300
        10         20         30         40         50         60 
MTATEALLRV LLLLLAFGHS TYGAECFPAC NPQNGFCEDD NVCRCQPGWQ GPLCDQCVTS 

        70         80         90        100        110        120 
PGCLHGLCGE PGQCICTDGW DGELCDRDVR ACSSAPCANN RTCVSLDDGL YECSCAPGYS 

       130        140        150        160        170        180 
GKDCQKKDGP CVINGSPCQH GGTCVDDEGR ASHASCLCPP GFSGNFCEIV ANSCTPNPCE 

       190        200        210        220        230        240 
NDGVCTDIGG DFRCRCPAGF IDKTCSRPVT NCASSPCQNG GTCLQHTQVS YECLCKPEFT 

       250        260        270        280        290        300 
GLTCVKKRAL SPQQVTRLPS GYGLAYRLTP GVHELPVQQP EHRILKVSMK ELNKKTPLLT 

       310        320        330        340        350        360 
EGQAICFTIL GVLTSLVVLG TVGIVFLNKC ETWVSNLRYN HMLRKKKNLL LQYNSGEDLA 

       370        380 
VNIIFPEKID MTTFSKEAGD EEI 

« Hide

Isoform Short [UniParc].

Checksum: 938E477A8F5B4D86
Show »

FASTA31033,067

References

« Hide 'large scale' references
[1]"dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line."
Laborda J., Sausville E.A., Hoffman T., Notario V.
J. Biol. Chem. 268:3817-3820(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANTS GLY-101 AND GLY-108.
Tissue: Adrenal gland.
[2]"dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA."
Lee Y.L., Helman L., Hoffman T., Laborda J.
Biochim. Biophys. Acta 1261:223-232(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), VARIANTS GLY-101 AND GLY-108.
Tissue: Adrenal gland and Placenta.
[3]"The sequence of an adrenal specific human cDNA, pG2."
Helman L.J., Sack N., Plon S., Israel M.A.
Nucleic Acids Res. 18:685-685(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT GLY-101.
Tissue: Adrenal gland.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG), VARIANT GLY-101.
Tissue: Adrenal gland.
[6]"Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2."
Jensen C.H., Krogh T.N., Hoejrup P., Clausen P.P., Skjoedt K., Larsson L.-I., Enghild J.J., Teisner B.
Eur. J. Biochem. 225:83-92(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 24-383, GLYCOSYLATION AT SER-94; ASN-100; THR-143; SER-163; ASN-165; ASN-172; SER-214; THR-222; SER-251 AND SER-260, VARIANT GLY-101.
Tissue: Amniotic fluid.
[7]"Studies on the isolation, structural analysis and tissue localization of fetal antigen 1 and its relation to a human adrenal-specific cDNA, pG2."
Jensen C.H., Teisner B., Hoejrup P., Rasmussen H.B., Madsen O.D., Nielsen B., Skjoedt K.
Hum. Reprod. 8:635-641(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 24-60.
Tissue: Amniotic fluid.
[8]"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Zhang Z., Henzel W.J.
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE OF 24-38.
[9]"Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
Halim A., Nilsson J., Ruetschi U., Hesse C., Larson G.
Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION AT THR-256, STRUCTURE OF CARBOHYDRATES, IDENTIFICATION BY MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9963.1. [P80370-1]
PIRS53716.
S71548.
RefSeqNP_003827.3. NM_003836.5.
UniGeneHs.533717.

3D structure databases

ProteinModelPortalP80370.
SMRP80370. Positions 19-247.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114316. 2 interactions.
STRING9606.ENSP00000340292.

Chemistry

ChEMBLCHEMBL5671.

PTM databases

PhosphoSiteP80370.

Polymorphism databases

DMDM296439371.

Proteomic databases

PaxDbP80370.
PRIDEP80370.

Protocols and materials databases

DNASU8788.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331224; ENSP00000331081; ENSG00000185559. [P80370-2]
ENST00000341267; ENSP00000340292; ENSG00000185559. [P80370-1]
GeneID8788.
KEGGhsa:8788.
UCSCuc001yhs.4. human. [P80370-1]
uc001yhu.4. human. [P80370-2]

Organism-specific databases

CTD8788.
GeneCardsGC14P101193.
H-InvDBHIX0131238.
HGNCHGNC:2907. DLK1.
HPACAB005872.
HPA053879.
HPA062262.
MIM176290. gene.
neXtProtNX_P80370.
Orphanet96184. Maternal uniparental disomy of chromosome 14.
96334. Paternal uniparental disomy of chromosome 14.
PharmGKBPA27363.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306005.
HOGENOMHOG000072581.
HOVERGENHBG007065.
InParanoidP80370.
OMAECLCKPE.
PhylomeDBP80370.
TreeFamTF351835.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
SignaLinkP80370.

Gene expression databases

ArrayExpressP80370.
BgeeP80370.
CleanExHS_DLK1.
GenevestigatorP80370.

Family and domain databases

InterProIPR000742. EG-like_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
[Graphical view]
PfamPF00008. EGF. 4 hits.
PF12661. hEGF. 1 hit.
[Graphical view]
SMARTSM00181. EGF. 6 hits.
[Graphical view]
PROSITEPS00010. ASX_HYDROXYL. 1 hit.
PS00022. EGF_1. 5 hits.
PS01186. EGF_2. 5 hits.
PS50026. EGF_3. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDLK1. human.
GeneWikiDLK1.
GenomeRNAi8788.
NextBio32960.
PROP80370.
SOURCESearch...

Entry information

Entry nameDLK1_HUMAN
AccessionPrimary (citable) accession number: P80370
Secondary accession number(s): P15803, Q96DW5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 151 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM