SDE2 SDE2 telomere maintenance homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: SDE2provided by HGNC
Official Full Name: SDE2 telomere maintenance homologprovided by HGNC
Primary source: HGNC:HGNC:26643
See related: Ensembl:ENSG00000143751 MIM:620743; AllianceGenome:HGNC:26643
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
Also known as: C1orf55; dJ671D7.1
Summary: Enables damaged DNA binding activity and snoRNA binding activity. Involved in several processes, including cellular response to UV; gene expression; and mitotic G1 DNA damage checkpoint signaling. Located in several cellular components, including Golgi apparatus; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 11.6), thyroid (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (225982702..225999343, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225170616..225187257, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226170403..226187044, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Extended DNA-binding interfaces beyond the canonical SAP domain contribute to the function of replication stress regulator SDE2 at DNA replication forks.
Title: Extended DNA-binding interfaces beyond the canonical SAP domain contribute to the function of replication stress regulator SDE2 at DNA replication forks.
SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing.
Title: SDE2 is an essential gene required for ribosome biogenesis and the regulation of alternative splicing.
SDE2 integrates into the TIMELESS-TIPIN complex to protect stalled replication forks.
Title: SDE2 integrates into the TIMELESS-TIPIN complex to protect stalled replication forks.
Conditional degradation of SDE2 by the Arg/N-End rule pathway regulates stress response at replication forks.
Title: Conditional degradation of SDE2 by the Arg/N-End rule pathway regulates stress response at replication forks.
collectively, this study uncovers a new role for CRL4CDT2 in protecting genomic integrity against replication stress via regulated proteolysis of PCNA-associated SDE2 and provides insights into how an integrated UBL domain within linear polypeptide sequence controls protein stability and function.
Title: PCNA-Dependent Cleavage and Degradation of SDE2 Regulates Response to Replication Stress.

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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

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

NoName (e-PCR)
- UniSTS:9484

SHGC-76446 (e-PCR)
- UniSTS:19240

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D13S1553 (e-PCR)
- UniSTS:473482

RH121475 (e-PCR)
- UniSTS:134603

AL010050 (e-PCR)
- UniSTS:33228

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables damaged DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables snoRNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV	IDA Inferred from Direct Assay more info	PubMed
involved_in endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA cis splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic G1 DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	HTP more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: splicing regulator SDE2

Names: UPF0667 protein C1orf55; protein SDE2 homolog; replication stress response regulator SDE2

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.