Gene Report

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Basic Info

Approved Symbol	SRR
Symbol Alias	ILV1, ISO1
Approved Name	serine racemase
Location	17p13
Position	chr17:2303383-2325260, 1
External Links	HGNC: 14398 Entrez Gene: 63826 Ensembl: ENSG00000167720 UCSC: uc002fue.1
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Schirmbeck, F., 2007	SNP: rs391300, rs721629, rs8081273	Our study does not support the involvement of SRR in the etiology of bipolar disorder in the German population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030165	PDZ domain binding	molecular function	IPI[16314870]	16
GO:0005509	calcium ion binding	molecular function	ISS	50
GO:0005886	plasma membrane	cellular component	IEA	360
GO:0007420	brain development	biological process	IBA	25

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0042803	protein homodimerization activity	molecular function	IDA[15681805]; IPI[20106978]	71
GO:0032496	response to lipopolysaccharide	biological process	IEP[15681805]	22
GO:0043278	response to morphine	biological process	IEA	9
GO:0006563	L-serine metabolic process	biological process	IDA[11054547]	1
GO:0007568	aging	biological process	IEA	22
GO:0003941	L-serine ammonia-lyase activity	molecular function	IDA[18812225]	1
GO:0042493	response to drug	biological process	IEA	57
GO:0000287	magnesium ion binding	molecular function	IDA[20106978]	11
GO:0009069	serine family amino acid metabolic process	biological process	ISS	1
GO:0070179	D-serine biosynthetic process	biological process	IDA[11054547]	1
GO:0008721	D-serine ammonia-lyase activity	molecular function	IBA	1
GO:0018114	threonine racemase activity	molecular function	ISS	1
GO:0016594	glycine binding	molecular function	ISS	6
GO:0005737	cytoplasm	cellular component	IDA[16314870]	322
GO:0005524	ATP binding	molecular function	IDA[20106978]; ISS	118
GO:0070178	D-serine metabolic process	biological process	IDA[20106978]	2
GO:0051289	protein homotetramerization	biological process	ISS	3
GO:0030170	pyridoxal phosphate binding	molecular function	IDA[20106978]; ISS	5
GO:0045177	apical part of cell	cellular component	IEA	13
GO:0043025	neuronal cell body	cellular component	IDA[17880399]	50
GO:0030378	serine racemase activity	molecular function	IDA[11054547]	1
GO:0042866	pyruvate biosynthetic process	biological process	IDA[18812225]	1

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs721629	chr8:18862672 - 18862672(1)	downstream_gene_variant; intron_variant	1(0/1/0)
rs391300	chr17:2312964 - 2312964(1)	intron_variant; upstream_gene_variant	1(0/1/0)
rs8081273	chr17:2319031 - 2319031(1)	downstream_gene_variant; intron_variant	1(0/1/0)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs4523957		chr17:2305605 - 2305605(1)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr17:2303383..2325260 View in gBrowse