DKKL1 Gene (Protein Coding)

Dickkopf Like Acrosomal Protein 1

GC19P049360
GIFtS:
37
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 alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010] See more...

Aliases for DKKL1 Gene

Aliases for DKKL1 Gene

  • Dickkopf Like Acrosomal Protein 1 2 3 5
  • Cancer/Testis Antigen 34 2 3 4
  • SGY-1 2 3 4
  • CT34 2 3 4
  • Dickkopf-Like Protein 1 3 4
  • Dickkopf-Like 1 2 3
  • Protein Soggy-1 3 4
  • Soggy 2 3
  • SGY1 3 4
  • Testicular Secretory Protein Li 15 3
  • Soggy-1 3
  • DKKL1 5
  • SGY 3

External Ids for DKKL1 Gene

Previous GeneCards Identifiers for DKKL1 Gene

  • GC19P054559
  • GC19P049871
  • GC19P046243

Summaries for DKKL1 Gene

Entrez Gene Summary for DKKL1 Gene

  • 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 alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

GeneCards Summary for DKKL1 Gene

DKKL1 (Dickkopf Like Acrosomal Protein 1) is a Protein Coding gene. Diseases associated with DKKL1 include Rectum Adenocarcinoma and Rectum Cancer. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity.

UniProtKB/Swiss-Prot Summary for DKKL1 Gene

  • 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 development or fertility.

Additional gene information for DKKL1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DKKL1 Gene

Genomics for DKKL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DKKL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J049359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 641.8 +1.8 1811 4.8 SP1 CREB1 CTCF PRDM10 ZNF629 REST TFE3 ZNF512 LEF1 IKZF1 DKKL1 TEAD2 KASH5 ENSG00000204666
GH19J049332 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.9 -25.0 -24993 5.4 SP1 IKZF1 POLR2A BACH1 ZNF143 RELA MTA1 REST SMAD5 NR2C1 CD37 NONHSAG026231.2 SLC6A16 DKKL1 KASH5 ALDH16A1 BCL2L12 FLT3LG IRF3 SNRNP70
GH19J049387 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 40.9 +27.6 27581 1 POLR2A NRF1 MGA EGR1 ZBTB2 NFRKB YY1 EP400 TRIM24 BCOR KASH5 ENSG00000268686 LOC101928295 HSALNG0126987 DKKL1 TEAD2
GH19J049355 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 41.9 -3.7 -3721 2.4 IKZF1 NR2F2 ZFHX2 SPI1 ZNF202 RARA NR2F6 ENSG00000268157 DKKL1 NUP62 ENSG00000268047 SNRNP70 GRWD1 PRR12 ADM5 PTOV1-AS2 PIH1D1
GH19J049324 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.4 -33.0 -33007 9.4 SP1 GATAD2A CTCF PRDM10 SIX5 JUND PRDM1 ZNF143 REST IRF2 SLC6A16 piR-31199-164 KASH5 DKKL1 PTH2 PTOV1-AS2 CYTH2 PRR12 SNRNP70 ALDH16A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DKKL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DKKL1

Top Transcription factor binding sites by QIAGEN in the DKKL1 gene promoter:
  • CREB
  • deltaCREB
  • FAC1
  • HSF1 (long)
  • HSF1short
  • MyoD
  • MZF-1
  • TBP

Genomic Locations for DKKL1 Gene

Genomic Locations for DKKL1 Gene
chr19:49,360,520-49,375,132
(GRCh38/hg38)
Size:
14,613 bases
Orientation:
Plus strand
chr19:49,865,040-49,878,373
(GRCh37/hg19)
Size:
13,334 bases
Orientation:
Plus strand

Genomic View for DKKL1 Gene

Genes around DKKL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DKKL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DKKL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DKKL1 Gene

Proteins for DKKL1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DKKL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK85-DKKL1_HUMAN
    Recommended name:
    Dickkopf-like protein 1
    Protein Accession:
    Q9UK85

    Protein attributes for DKKL1 Gene

    Size:
    242 amino acids
    Molecular mass:
    27007 Da
    Quaternary structure:
    • Interacts with SLXL1; Co-localize in seminiferous tubules. Interacts with SLY.

neXtProt entry for DKKL1 Gene

Protein Expression for DKKL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DKKL1 Gene

  • N-glycosylated during spermatogenesis. Not N-glycosylated in mature sperm.
  • Glycosylation at Asn97 and Asn112
  • Modification sites at PhosphoSitePlus

Other Protein References for DKKL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for DKKL1
  • Boster Bio Antibodies for DKKL1

Protein Products

  • Signalway Proteins for DKKL1
  • Abcam proteins for DKKL1

No data available for DME Specific Peptides for DKKL1 Gene

Domains & Families for DKKL1 Gene

Gene Families for DKKL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for DKKL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DKKL1 Gene

GenScript: Design optimal peptide antigens:
  • Protein soggy-1 (DKKL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UK85

UniProtKB/Swiss-Prot:

DKKL1_HUMAN :
  • Contains a N-terminal domain similar to that of the N-terminal section of DKK3.
Domain:
  • Contains a N-terminal domain similar to that of the N-terminal section of DKK3.
genes like me logo Genes that share domains with DKKL1: view

Function for DKKL1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DKKL1 Gene

UniProtKB/Swiss-Prot 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 development or fertility.
UniProtKB/Swiss-Prot Induction:
Abnormal expression in testes of patients with male infertility.

Phenotypes From GWAS Catalog for DKKL1 Gene

Gene Ontology (GO) - Molecular Function for DKKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0039706 co-receptor binding IBA 21873635
GO:0048019 receptor antagonist activity IBA 21873635
genes like me logo Genes that share ontologies with DKKL1: view
genes like me logo Genes that share phenotypes with DKKL1: view

Animal Models for DKKL1 Gene

MGI Knock Outs for DKKL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DKKL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DKKL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DKKL1 Gene

Localization for DKKL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DKKL1 Gene

Secreted. Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Localized specifically to the crescent shaped acrosome at the apex of the sperm head. {ECO:0000250 UniProtKB:Q9QZL9}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DKKL1 gene
Compartment Confidence
extracellular 4
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DKKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle ISS --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space TAS,IBA 21873635
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with DKKL1: view

Pathways & Interactions for DKKL1 Gene

PathCards logo

SuperPathways for DKKL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DKKL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007341 penetration of zona pellucida ISS --
GO:0009653 anatomical structure morphogenesis TAS 10570958
GO:0043065 positive regulation of apoptotic process ISS --
GO:0045600 positive regulation of fat cell differentiation IEA --
GO:0090090 negative regulation of canonical Wnt signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with DKKL1: view

No data available for Pathways by source and SIGNOR curated interactions for DKKL1 Gene

Drugs & Compounds for DKKL1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for DKKL1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DKKL1 Gene

3 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DKKL1

Alternative Splicing Database (ASD) splice patterns (SP) for DKKL1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: - - - - -
SP2: - -
SP3: -
SP4:
SP5: - -

Relevant External Links for DKKL1 Gene

GeneLoc Exon Structure for
DKKL1

Expression for DKKL1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DKKL1 Gene

mRNA expression in normal human tissues for DKKL1 Gene
mRNA expression by BioGPS for DKKL1 GenemRNA expression by GTEx for DKKL1 Gene

mRNA differential expression in normal tissues according to GTEx for DKKL1 Gene

This gene is overexpressed in Testis (x51.1).

Protein differential expression in normal tissues from HIPED for DKKL1 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DKKL1 Gene



Protein tissue co-expression partners for DKKL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DKKL1

SOURCE GeneReport for Unigene cluster for DKKL1 Gene:

Hs.515855

mRNA Expression by UniProt/SwissProt for DKKL1 Gene:

Q9UK85-DKKL1_HUMAN
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.

Evidence on tissue expression from TISSUES for DKKL1 Gene

  • Intestine(2.1)
genes like me logo Genes that share expression patterns with DKKL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DKKL1 Gene

Orthologs for DKKL1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DKKL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DKKL1 30 31
  • 99.45 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DKKL1 30 31
  • 86.36 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DKKL1 30 31
  • 83.91 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dkkl1 30
  • 75.19 (n)
Mouse
(Mus musculus)
 Mammalia Dkkl1 30 17 31
  • 75.08 (n)
 OneToOne
Species where no ortholog for DKKL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DKKL1 Gene

ENSEMBL:
Gene Tree for DKKL1 (if available)
TreeFam:
Gene Tree for DKKL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DKKL1: view image

Paralogs for DKKL1 Gene

Pseudogenes.org Pseudogenes for DKKL1 Gene

genes like me logo Genes that share paralogs with DKKL1: view

No data available for Paralogs for DKKL1 Gene

Variants for DKKL1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DKKL1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
778852 Benign: not provided 49,375,018(+) G/A MISSENSE_VARIANT
780579 Benign: not provided 49,374,796(+) G/A MISSENSE_VARIANT
rs1054770 - p.Gly187Ser
rs2288481 - p.Glu214Lys
rs2303757 - p.Leu24Arg

Additional dbSNP identifiers (rs#s) for DKKL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DKKL1 Gene

Variant ID Type Subtype PubMed ID
dgv52n68 CNV loss 17160897
esv3644622 CNV loss 21293372
nsv9739 CNV gain+loss 18304495

Variation tolerance for DKKL1 Gene

Residual Variation Intolerance Score: 95.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.64; 98.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DKKL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DKKL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DKKL1 Gene

Disorders for DKKL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DKKL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rectum adenocarcinoma
  • rectal adenocarcinoma
rectum cancer
  • cancer of rectum
- elite association - COSMIC cancer census association via MalaCards
Search DKKL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DKKL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DKKL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DKKL1 Gene

Publications for DKKL1 Gene

  1. Functional and structural diversity of the human Dickkopf gene family. (PMID: 10570958) Krupnik VE … McCarthy SA (Gene 1999) 2 3 4
  2. Developmental expression and function of DKKL1/Dkkl1 in humans and mice. (PMID: 22817830) Yan Q … Cai Z (Reproductive biology and endocrinology : RB&E 2012) 3 4
  3. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. (PMID: 21833088) International Multiple Sclerosis Genetics Consortium … Compston A (Nature 2011) 3 41
  4. DkkL1 (Soggy), a Dickkopf family member, localizes to the acrosome during mammalian spermatogenesis. (PMID: 15892050) Kohn MJ … DePamphilis ML (Molecular reproduction and development 2005) 2 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for DKKL1 gene in Mastermind

Products for DKKL1 Gene

  • Signalway ELISA kits for DKKL1
  • Signalway Proteins for DKKL1

Sources for DKKL1 Gene