• Gene id: 8788

Gene Summary

• Gene Symbol: DLK1   Gene   UCSC   Ensembl
• Aliases: DLK, DLK-1, Delta1, FA1, PREF1, Pref-1, ZOG, pG2
• Gene name: delta like non-canonical Notch ligand 1
• Alternate names: protein delta homolog 1, delta-like 1 homolog, fetal antigen 1, preadipocyte factor 1, secredeltin,
• Gene location: 14q32.2 (100726864: 100738223)     Exons: 5     NC_000014.9
• Gene summary(Entrez): This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is
• OMIM: 176290

Protein Summary

• Protein general information: P80370  
  • Name: Protein delta homolog 1 (DLK 1) (pG2) [Cleaved into: Fetal antigen 1 (FA1)]
  • Length: 383  
  • Mass: 41,300
• Sequence:

  MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCI
  CTDGWDGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGR
  ASHASCLCPPGFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQ
  HTQVSYECLCKPEFTGLTCVKKRALSPQQVTRLPSGYGLAYRLTPGVHELPVQQPEHRILKVSMKELNKKTPLLT
  EGQAICFTILGVLTSLVVLGTVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFS
  KEAGDEEI

• Structural information:
  • Protein Domains: EGF-like (24-55)
    EGF-like (53-86)
    EGF-like (88-125)
    EGF-like (127-168)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  
  • Prosite: PS00010 PS00022 PS01186 PS50026
  • STRING: ENSP00000340292
• Other Databases: GeneCards:  DLK1  Malacards:  DLK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process

Diseases

Associated diseases	References
Diabetes	GAD: 19966805
Bone diseases	GAD: 19453261
Hypothalamic amenorrhea	INFBASE: 21795455
Gonad development	INFBASE: 15120973
Female infertility	INFBASE: 15120973
Immunoinfertility	MIK: 18410470
Testicular pathologies	MIK: 24908673
Klinefelter syndrome	INFBASE: 24908673
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Klinefelter syndrome	MIK: 24908673
Testicular pathologies	MIK: 24908673
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24908673	Klinefelter syndrome, Testicular pathologies			91 (33 fetal and prepubertal human specimens and in 58 adult testis samples from patients with testicular germ cell tumours,)	Male infertility	DLK1 INSL3 COUP-TFII cytochrome P450 family 11 subfamily A polypeptide 1 (CYP11A1) and smooth muscle actin (SMA)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R