Hs00662005_cn

• Gene Symbol: SMG5
• Assay Reference Genome Location: Chr.1:156250607 on build GRCh38
• Cytoband: 1q22

Target Gene Details

• Entrez Gene ID: 23381
• Gene Name: SMG5, nonsense mediated mRNA decay factor
• Gene Aliases: EST1B, LPTS-RP1, LPTSRP1, SMG-5
• Location: Chr.1:156249224-156291498 on Build GRCh38
• Assay Gene Location: Within Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMG5	NM_001323614.1	21	3082	NP_001310543.1
	NM_001323615.1	21	3103	NP_001310544.1
	NM_001323616.1	23	3373	NP_001310545.1
	NM_001323617.1	23	3208	NP_001310546.1
	NM_015327.2	22	3180	NP_056142.2
	XM_017000842.1	18	3126	XP_016856331.1
	XM_017000843.1	21	3108	XP_016856332.1
	AB029012.2	22	3182
	AB085691.1	22	3108	BAC53623.1
	AK025988.1
	AK027486.1	9	968	BAB55147.1
	AK092183.1
	AL137738.1	11	1283	CAH56374.1
	AY168922.1			AAO17582.1
	AY336728.1			AAQ84301.1
	BC007453.2	11	1627	AAH07453.2
	BC038296.1	22	3181	AAH38296.1
	CR933677.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv509524	Chr.1:156238274 - 156308437 on Build GRCh38	Insertion	VHLL PMF1 TMEM79 GLMP PMF1-BGLAP PAQR6 BGLAP SMG5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA metabolism protein

Gene Ontology Categories:

Process(es)

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
mRNA export from nucleus
regulation of telomere maintenance
regulation of telomere maintenance via telomerase
regulation of dephosphorylation

Function(s)

protein binding
ubiquitin protein ligase binding
telomeric DNA binding
histone deacetylase binding
protein phosphatase 2A binding
DNA polymerase binding