Hs00634069_cn

• Gene Symbol: SRR
• Assay Reference Genome Location: Chr.17:2324870 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 63826
• Gene Name: serine racemase
• Gene Aliases: ILV1, ISO1
• Location: Chr.17:2303371-2325267 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SRR	NM_001304803.1	7	1927	NP_001291732.1
	NM_021947.2	8	2099	NP_068766.1
	XM_006721565.3	8	2131	XP_006721628.1
	XM_006721566.3	8	3309	XP_006721629.1
	XM_011523974.2	8	2238	XP_011522276.1
	AI952697.1
	AK023169.1	8	2088	BAB14442.1
	AL834378.1	6	1864	CAD39041.1

Target Gene Details

• Entrez Gene ID: 55720
• Gene Name: TSR1, ribosome maturation factor
• Gene Aliases: -
• Location: Chr.17:2322678-2337384 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSR1	NM_018128.4			NP_060598.3
	AB037822.1
	AK001396.1			BAA91667.1
	AK026565.1
	BC019090.2			AAH19090.2
	BC110851.1			AAI10852.1
	BC126110.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv574224	Chr.17:2269769 - 2423186 on Build GRCh38	Gain	SNORD91A TSR1 SMG6 SNORD91B SRR METTL16 MNT LOC284009 SGSM2 LOC101927864
nsv1067416	Chr.17:2319186 - 2343258 on Build GRCh38	Loss	SNORD91A TSR1 SNORD91B SRR SGSM2
nsv469765	Chr.17:2213155 - 2400446 on Build GRCh38	Loss	SNORD91A TSR1 SMG6 LOC101927839 SNORD91B SRR MNT SGSM2 LOC101927864
nsv833336	Chr.17:2176922 - 2400456 on Build GRCh38	Loss	SNORD91A TSR1 SMG6 LOC101927839 SNORD91B SRR MNT SGSM2 LOC101927864

More Information

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

Panther Classification:

Molecular Function -

epimerase/racemase, isomerase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

L-serine metabolic process
brain development
aging
serine family amino acid metabolic process
response to lipopolysaccharide
response to drug
pyruvate biosynthetic process
response to morphine
protein homotetramerization
D-serine metabolic process
D-serine biosynthetic process
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
rRNA processing
ribosome assembly

Function(s)

magnesium ion binding
L-serine ammonia-lyase activity
calcium ion binding
ATP binding
D-serine ammonia-lyase activity
glycine binding
threonine racemase activity
PDZ domain binding
pyridoxal phosphate binding
serine racemase activity
protein homodimerization activity
GTPase activity
GTP binding
U3 snoRNA binding
poly(A) RNA binding