DAD1 defender against cell death 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DAD1provided by HGNC
Official Full Name: defender against cell death 1provided by HGNC
Primary source: HGNC:HGNC:2664
See related: Ensembl:ENSG00000129562 MIM:600243; AllianceGenome:HGNC:2664
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: OST2
Summary: DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 108.7), adrenal (RPKM 94.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22564907..22589224, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (16762628..16786951, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23033807..23058130, complement)

Chromosome 14 - NC_000014.9 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?

variants in both the DAD1 and OXA1L genes may affect atopy and asthma in a Latin American population with a high prevalence of asthma.
Title: Polymorphisms in the DAD1 and OXA1L genes are associated with asthma and atopy in a South American population.
this study shows that abnormal expression of DAD1 may relate to the hyperfunction of immune responses and excessive apoptosis of severe aplastic anemia CD34(+) cells
Title: Comparative proteomic analysis of CD34(+) cells in bone marrow between severe aplastic anemia and normal control.
single-nucleotide polymorphisms in DAD1 gene is associated with neuroendocrine tumor.
Title: Genetic associations with sporadic neuroendocrine tumor risk.
DAD1 gene expression is decreased in follicular variant of papillary thyroid carcinoma.
Title: Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
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.
DAD1 protein overexpression is associated with small bowel carcinoid tumors
Title: High-resolution analysis of genetic alterations in small bowel carcinoid tumors reveals areas of recurrent amplification and loss.

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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
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of defender against cell death 1 (DAD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:593795 (e-PCR)
- UniSTS:157972

UniSTS:99121 (e-PCR)
- UniSTS:99121

D8S2279 (e-PCR)
- UniSTS:473907

G67928 (e-PCR)
- UniSTS:225597

D10S16 (e-PCR)
- UniSTS:155756

HUM000S317 (e-PCR)
- UniSTS:38765

L18441 (e-PCR)
- UniSTS:71348

SGC35549 (e-PCR)
- UniSTS:51913

G35480 (e-PCR)
- UniSTS:23506

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in blastocyst development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation via asparagine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
part_of oligosaccharyltransferase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of oligosaccharyltransferase complex	IDA Inferred from Direct Assay more info	PubMed
part_of oligosaccharyltransferase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of oligosaccharyltransferase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1

Names: DAD-1; oligosaccharyl transferase subunit DAD1; oligosaccharyltransferase 2 homolog; oligosaccharyltransferase subunit 2 (non-catalytic)

NP_001335.1

EC 2.4.99.18

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.