DAP death associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAPprovided by HGNC
Official Full Name: death associated proteinprovided by HGNC
Primary source: HGNC:HGNC:2672
See related: Ensembl:ENSG00000112977 MIM:600954; AllianceGenome:HGNC:2672
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: DAP1
Summary: This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Expression: Ubiquitous expression in thyroid (RPKM 62.5), urinary bladder (RPKM 56.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5p15.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (10679230..10761234, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (10617243..10698870, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (10679342..10761346, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Backbone and nearly complete side-chain chemical shift assignments of the human death-associated protein 1 (DAP1).
Title: Backbone and nearly complete side-chain chemical shift assignments of the human death-associated protein 1 (DAP1).
Expression of Death Associated Proteins DAP1 and DAP3 in Human Pancreatic Cancer.
Title: Expression of Death Associated Proteins DAP1 and DAP3 in Human Pancreatic Cancer.
DAP1 may have an important role in cell adhesion, migration and growth in the context of breast cancer and has significant associations with the apoptosis pathway.
Title: Effect of the knockdown of death-associated protein 1 expression on cell adhesion, growth and migration in breast cancer cells.
DAP1 was found to be correlated with disease progression and long-term survival of the colorectal patients. DAP1 is also a pivotal regulator of the growth and apoptosis and cellular response to chemotherapy agents.
Title: Death associated protein 1 is correlated with the clinical outcome of patients with colorectal cancer and has a role in the regulation of cell death.
This study demonstrates an inverse association between DAP1 mRNA levels and tumour stage and clinical outcome in breast cancer
Title: The mRNA expression of DAP1 in human breast cancer: correlation with clinicopathological parameters.
Mapping of the phosphorylation sites and analysis of phosphorylation mutants indicated that DAP1 is functionally silenced in growing cells through mTOR-dependent phosphorylations on Ser3 and Ser51
Title: DAP1, a novel substrate of mTOR, negatively regulates autophagy.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH45554 (e-PCR)
- UniSTS:61698

D5S2187E (e-PCR)
- UniSTS:154393

D5S2193E (e-PCR)
- UniSTS:154399

D5S432 (e-PCR), detects polymorphism
- UniSTS:16709

D5S432 (e-PCR), detects polymorphism
- UniSTS:50613

DAP_18 (e-PCR)
- UniSTS:276177

D5S2480 (e-PCR)
- UniSTS:31973

D5S2772 (e-PCR)
- UniSTS:473840

D5S2726 (e-PCR)
- UniSTS:71415

SHGC-111632 (e-PCR)
- UniSTS:168445

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables death domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables ribosome binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to amino acid starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in ribosome hibernation	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: death-associated protein 1

Names: DAP-1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_011546.1 RefSeqGene

Range

5042..87046

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001291963.2 → NP_001278892.1 death-associated protein 1 isoform 1

See identical proteins and their annotated locations for NP_001278892.1

Status: REVIEWED

Description

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

Source sequence(s)

BC002726, BI823002, DC395850

Consensus CDS

CCDS77997.1

UniProtKB/TrEMBL

B4DQ75

Related

ENSP00000394163.2, ENST00000432074.2

Conserved Domains (1) summary

pfam15228
Location:12 → 179

DAP; Death-associated protein
NM_004394.3 → NP_004385.1 death-associated protein 1 isoform 2

See identical proteins and their annotated locations for NP_004385.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an additional exon in the coding region, which causes a frameshift, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC002726, BP265421, DC395850

Consensus CDS

CCDS3880.1

UniProtKB/Swiss-Prot

P51397, Q6FGC3, Q9BUC9

UniProtKB/TrEMBL

B2R4C9

Related

ENSP00000230895.7, ENST00000230895.11

Conserved Domains (1) summary

pfam15228
Location:12 → 102

DAP; Death-associated protein