DKKL1 dickkopf like acrosomal protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DKKL1provided by HGNC
Official Full Name: dickkopf like acrosomal protein 1provided by HGNC
Primary source: HGNC:HGNC:16528
See related: Ensembl:ENSG00000104901 MIM:605418; AllianceGenome:HGNC:16528
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SGY; CT34; SGY1; SGY-1
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 alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Expression: Restricted expression toward testis (RPKM 49.6) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.33

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (49360515..49375116)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (52357951..52372571)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (49867134..49878373)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Clinical Significance of Dickkopf Wnt Signaling Pathway Inhibitor Gene Family in Head and Neck Squamous Cell Carcinoma.
Title: The Clinical Significance of Dickkopf Wnt Signaling Pathway Inhibitor Gene Family in Head and Neck Squamous Cell Carcinoma.
DKKL was overexpressed in colorectal cancer tissue compared with healthy colon. DKKL expression positively correlated with colorectal cancer progression.
Title: Expression of Cancer Testis Antigens in Colorectal Cancer: New Prognostic and Therapeutic Implications.
previously unreported alternative splicing patterns in the genes ZNF419 and DKKL1
Title: Allele-specific splicing effects on DKKL1 and ZNF419 transcripts in HeLa cells.
Findings suggest that Dkk-3 plays a role in the regulation of cell interactions during retinoic acid-induced neuronal differentiation; effect on apoptosis was also observed upon expression of the related protein Dkkl-1
Title: Dickkopf-3 alters the morphological response to retinoic acid during neuronal differentiation of human embryonal carcinoma cells.
Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1.
Title: Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes.
DKKL1/Dkkl1 may play an important role in testicular development and spermatogenesis and may be an important factor in male infertility.
Title: Developmental expression and function of DKKL1/Dkkl1 in humans and mice.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables co-receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables receptor antagonist activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of testosterone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in penetration of zona pellucida	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: dickkopf-like protein 1

Names: cancer/testis antigen 34; dickkopf-like 1; protein soggy-1; soggy; soggy-1; testicular secretory protein Li 15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001197301.2 → NP_001184230.1 dickkopf-like protein 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_001184230.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.

Source sequence(s)

AF177398, AY358922, BI826744

UniProtKB/TrEMBL

M0R1Q7

Related

ENSP00000472056.1, ENST00000597546.1
NM_001197302.2 → NP_001184231.1 dickkopf-like protein 1 isoform 3

See identical proteins and their annotated locations for NP_001184231.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate splice donor site in the first splice junction, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 1.

Source sequence(s)

AF177398, BI826695

UniProtKB/TrEMBL

M0R2X7
NM_014419.4 → NP_055234.1 dickkopf-like protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_055234.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AY358922

Consensus CDS

CCDS12762.1

UniProtKB/Swiss-Prot

Q9UK85

UniProtKB/TrEMBL

A0A140VK15, M0R1Q7

Related

ENSP00000221498.1, ENST00000221498.7