SERPINF1 (serpin family F member 1)

2003-08-01  

Identity

HGNC
SERPINF1
LOCATION
17p13.3
LOCUSID
5176
ALIAS
EPC-1,OI12,OI6,PEDF,PIG35
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5176
MIM: 172860
HGNC: 8824
Ensembl: ENSG00000132386

Variants:

dbSNP: 5176
ClinVar: 5176
TCGA: ENSG00000132386
COSMIC: SERPINF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132386ENST00000254722P36955
ENSG00000132386ENST00000254722A0A140VKF3
ENSG00000132386ENST00000570731I3L2R7
ENSG00000132386ENST00000571149I3L425
ENSG00000132386ENST00000571360I3L4Z0
ENSG00000132386ENST00000572048I3L107
ENSG00000132386ENST00000573763I3L4N7
ENSG00000132386ENST00000573770I3L1U4
ENSG00000132386ENST00000576406I3L4F9
ENSG00000132386ENST00000577053I3L3Z3

Expression (GTEx)

0
100
200
300
400
500
600
700
800
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
Wnt signaling pathwayKEGGko04310
Wnt signaling pathwayKEGGhsa04310

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
213531962011Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.103
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
191805722009Characterization of PEDF: a multi-functional serpin family protein.80
192248612009Laminin receptor involvement in the anti-angiogenic activity of pigment epithelium-derived factor.63
181912712008Anti-angiogenic pigment epithelium-derived factor regulates hepatocyte triglyceride content through adipose triglyceride lipase (ATGL).54
176517102007PEDF induces p53-mediated apoptosis through PPAR gamma signaling in human umbilical vein endothelial cells.51
167074862006Pigment epithelium-derived factor inhibits advanced glycation end product-induced retinal vascular hyperpermeability by blocking reactive oxygen species-mediated vascular endothelial growth factor expression.50
195839522009Pigment epithelium-derived factor contributes to insulin resistance in obesity.50
218267362011Mutations in SERPINF1 cause osteogenesis imperfecta type VI.47
122373172002Mapping the type I collagen-binding site on pigment epithelium-derived factor. Implications for its antiangiogenic activity.38

Citation

Dessen P

SERPINF1 (serpin family F member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/42268/serpinf1