DKKL1 (dickkopf like acrosomal protein 1)

Gene

• Entrez ID: 27120
• Gene name: Dickkopf like acrosomal protein 1
• Gene symbol: DKKL1
• Synonyms (NCBI Gene): CT34, SGY, SGY-1, SGY1
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple altern

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	TAS	10570958
GO:0007341	Process	Penetration of zona pellucida	IEA
GO:0007341	Process	Penetration of zona pellucida	ISS
GO:0009653	Process	Anatomical structure morphogenesis	TAS	10570958
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0039706	Function	Co-receptor binding	IBA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0048019	Function	Receptor antagonist activity	IBA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:2000225	Process	Negative regulation of testosterone biosynthetic process	IEA
GO:2000225	Process	Negative regulation of testosterone biosynthetic process	ISS

Other IDs

• MIM: 605418
• HGNC: 16528
• e!Ensembl: ENSG00000104901

Protein

• UniProt ID: Q9UK85
• Protein name: Dickkopf-like protein 1 (Cancer/testis antigen 34) (CT34) (Protein soggy-1) (SGY-1)
• Protein function: Involved in fertilization by facilitating sperm penetration of the zona pellucida. May promote spermatocyte apoptosis, thereby limiting sperm production. In adults, may reduce testosterone synthesis in Leydig cells. Is not essential either for d
• Tissue specificity: TISSUE SPECIFICITY: More highly expressed in adult testis than in fetal testis. Exclusively expressed in the testis (at protein level). Intense expression in stages II, III and IV of spermatogenesis, whereas expression is lower in stage I. {ECO:0000269|Pu
• Sequence:

  MGEASPPAPARRHLLVLLLLLSTLVIPSAAAPIHDADAQESSLGLTGLQSLLQGFSRLFL
  KGNLLRGIDSLFSAPMDFRGLPGNYHKEENQEHQLGNNTLSSHLQIDKMTDNKTGEVLIS
  ENVVASIQPAEGSFEGDLKVPRMEEKEALVPIQKATDSFHTELHPRVAFWIIKLPRRRSH
  QDALEGGHWLSEKRHRLQAIRDGLRKGTHKDVLEEGTESSSHSRLSPRKTHLLYILRPSR
  QL

• Sequence length: 242

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Neoplasms	Associate	27635108	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	33281184	★☆☆☆☆ Found in Text Mining only