APCDD1L APC down-regulated 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: APCDD1Lprovided by HGNC
Official Full Name: APC down-regulated 1 likeprovided by HGNC
Primary source: HGNC:HGNC:26892
See related: Ensembl:ENSG00000198768 AllianceGenome:HGNC:26892
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Predicted to enable Wnt-protein binding activity. Predicted to be involved in negative regulation of Wnt signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in salivary gland (RPKM 5.3), kidney (RPKM 1.7) and 6 other tissues See more
Orthologs: all
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Genomic context

Location:: 20q13.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (58459101..58515399, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (60240152..60296452, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (57034157..57090455, complement)

Chromosome 20 - NC_000020.11 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 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. 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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Markers

RH47951 (e-PCR)
- UniSTS:532

D20S164 (e-PCR), detects polymorphism
- UniSTS:19284

RH75624 (e-PCR)
- UniSTS:91497

NoName (e-PCR)
- UniSTS:485364

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Wnt-protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein APCDD1-like

Names: adenomatosis polyposis coli down-regulated 1 like

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_001304787.2 → NP_001291716.1 protein APCDD1-like isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AK074647, AK293299, AL118513, BQ018966, DA665037

UniProtKB/TrEMBL

B4DDQ9

Conserved Domains (1) summary

pfam14921
Location:48 → 274

APCDDC; Adenomatosis polyposis coli down-regulated 1
NM_153360.3 → NP_699191.1 protein APCDD1-like isoform 1 precursor

See identical proteins and their annotated locations for NP_699191.1

Status: VALIDATED

Description

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

Source sequence(s)

AK074647, AL118513, BQ018966, DA665037

Consensus CDS

CCDS13467.1

UniProtKB/Swiss-Prot

Q8NCL9

UniProtKB/TrEMBL

B4DDQ9

Related

ENSP00000360191.3, ENST00000371149.8

Conserved Domains (1) summary

pfam14921
Location:37 → 263

APCDDC; Adenomatosis polyposis coli down-regulated 1

RNA

NR_130908.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks two exons and its 3' terminal exon extends past a splice site used in variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.

Source sequence(s)

AL118513