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.

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 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
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