Hs07138904_cn

• Gene Symbol: SAE1
• Assay Reference Genome Location: Chr.19:47153397 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 10055
• Gene Name: SUMO1 activating enzyme subunit 1
• Gene Aliases: AOS1, HSPC140, SUA1, UBLE1A
• Location: Chr.19:47130782-47210636 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAE1	NM_001145713.1			NP_001139185.1
	NM_001145714.1			NP_001139186.1
	NM_005500.2			NP_005491.1
	NR_027280.1
	XM_006722963.2			XP_006723026.1
	XM_006722965.3			XP_006723028.1
	XM_017026135.1			XP_016881624.1
	XM_017026136.1			XP_016881625.1
	AF046025.2			AAD23902.2
	AF090385.2			AAD12785.2
	AF110956.1			AAD24433.1
	AF161489.1			AAF29104.1
	AK021978.1
	AK027595.1
	AK055481.1
	AK090645.1
	AK302287.1
	AK315624.1
	BC000344.2			AAH00344.1
	BC003611.2			AAH03611.1
	BC018271.1			AAH18271.1
	BT007290.1			AAP35954.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833852	Chr.19:47134590 - 47307834 on Build GRCh38	Loss	INAFM1 MIR3190 CCDC9 SAE1 BBC3 MIR3191
nsv833851	Chr.19:47058544 - 47208779 on Build GRCh38	Loss	SAE1 ZC3H4
nsv1067417	Chr.19:47103045 - 47309908 on Build GRCh38	Gain	INAFM1 MIR3190 CCDC9 SAE1 BBC3 C5AR1 ZC3H4 MIR3191

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ubiquitin-protein ligase

Gene Ontology Categories:

Process(es)

regulation of mitotic cell cycle
protein ubiquitination
protein sumoylation
positive regulation of catalytic activity
positive regulation of protein targeting to mitochondrion

Function(s)

ubiquitin activating enzyme activity
protein binding
protein C-terminus binding
enzyme activator activity
SUMO activating enzyme activity
ATP-dependent protein binding
protein heterodimerization activity