DKKL1: Dickkopf Like Acrosomal Protein 1
A gene encoding a secreted protein involved in spermatogenesis and acrosome formation, with potential roles in male fertility and cancer.
Gene Information Card
| Symbol | DKKL1 |
|---|---|
| Full Name | Dickkopf Like Acrosomal Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 27120 ncbi.nlm.nih.gov/gene/27120 |
| Ensembl ID | ENSG00000104973 |
| UniProt ID | Q9UK85 |
| OMIM ID | 605418 |
| HGNC ID | 2892 |
| Aliases | CT34, DKKL-1, SGY-1, Soggy-1 |
Description
DKKL1 (Dickkopf Like Acrosomal Protein 1) is a protein-coding gene located on chromosome 19q13.33. It encodes a secreted protein that belongs to the Dickkopf family, but unlike other family members, it does not inhibit Wnt signaling. DKKL1 is predominantly expressed in the testis and is involved in spermatogenesis, specifically in acrosome formation and sperm maturation. It has also been implicated in certain cancers and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male Infertility (spermatogenic failure) | Reduced or absent DKKL1 expression may impair acrosome biogenesis and sperm function. | PMID: 21106936 |
| Testicular Germ Cell Tumors | Aberrant DKKL1 expression observed in seminomas; potential biomarker. | COSMIC: gene analysis |
| Prostate Cancer | DKKL1 upregulation in some prostate cancer tissues; role in tumor progression unclear. | NCBI Gene: expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian Tube | 1.2 | Low |
| Prostate | 0.8 | Low |
| Thyroid | 0.5 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.3 | High expression |
| HeLa (cervical carcinoma) | 0.2 | Low expression |
| A549 (lung carcinoma) | 0.1 | Not detected |
| MCF7 (breast carcinoma) | 0.1 | Not detected |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; effect unknown |
| c.202C>T (p.Arg68Trp) | missense | Rare | Substitution in conserved region; functional impact uncertain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data:
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular space (GO:0005615) |
| • spermatogenesis (GO:0007283) | • acrosomal vesicle (GO:0030141) |
| • oogenesis (GO:0048477) | • cilium assembly (GO:0060271) |
Pathways
• No specific curated pathways in Reactome or KEGG for DKKL1.
Protein Summary
The DKKL1 protein (UniProt Q9UK85) is a 265-amino acid secreted protein containing a signal peptide and a cysteine-rich domain. It is specifically expressed in the testis, where it localizes to the acrosome of spermatids and spermatozoa. Unlike other Dickkopf proteins, DKKL1 does not modulate Wnt signaling. It is thought to play a role in acrosome formation and sperm-egg fusion. The protein is also known as Soggy-1 and CT34 (cancer/testis antigen).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DKKL1 Knockout HEK293 Cell Line | EDJ-KQ13157 | Human | 27120 | Details Get a Quote |
| DKKL1 Knockout Huh-7 Cell Line | EDJ-KZ186 | Human | 27120 | Details Get a Quote |
| DKKL1 Knockout HeLa Cell Line | EDJ-KQ56004 | Human | 27120 | Details Get a Quote |
| DKKL1 Knockout A-549 Cell Line | EDJ-KQ64492 | Human | 27120 | Details Get a Quote |
| DKKL1 Knockout HCT 116 Cell Line | EDJ-KQ72949 | Human | 27120 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records