SRR (serine racemase)

2016-08-01  

Identity

HGNC
SRR
LOCATION
17p13.3
LOCUSID
63826
ALIAS
ILV1,ISO1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63826
MIM: 606477
HGNC: 14398
Ensembl: ENSG00000167720

Variants:

dbSNP: 63826
ClinVar: 63826
TCGA: ENSG00000167720
COSMIC: SRR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167720ENST00000344595Q9GZT4
ENSG00000167720ENST00000570662I3L3N0
ENSG00000167720ENST00000572709Q3ZK31
ENSG00000167720ENST00000574229Q3ZK31
ENSG00000167720ENST00000574987I3L4L3
ENSG00000167720ENST00000575840I3L4W4
ENSG00000167720ENST00000576620I3L4B4
ENSG00000167720ENST00000576848V9GYE8

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
185839792008Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.395
201745582010A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.137
195843462009Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.93
178803992007d-Amino acid oxidase and serine racemase in human brain: normal distribution and altered expression in schizophrenia.54
194831942009Serine racemase is associated with schizophrenia susceptibility in humans and in a mouse model.49
155360682005Serine racemase modulates intracellular D-serine levels through an alpha,beta-elimination activity.45
170675582007A genetic variant of the serine racemase gene is associated with schizophrenia.35
220965102011Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population.23
269137202016MiR-193a-3p and miR-193a-5p suppress the metastasis of human osteosarcoma cells by down-regulating Rab27B and SRR, respectively.23
201069782010The structure of mammalian serine racemase: evidence for conformational changes upon inhibitor binding.17

Citation

Dessen P

SRR (serine racemase)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55906/srr