Gene Gene information from NCBI Gene database.
Entrez ID 6856
Gene name Synaptophysin like 1
Gene symbol SYPL1
Synonyms (NCBI Gene)
H-SP1SYPL
Chromosome 7
Chromosome location 7q22.3
miRNA miRNA information provided by mirtarbase database.
649
miRTarBase ID miRNA Experiments Reference
MIRT005203 hsa-miR-30a-5p pSILAC 18668040
MIRT001497 hsa-miR-155-5p pSILAC 18668040
MIRT004119 hsa-miR-124-3p Microarray 15685193
MIRT019598 hsa-miR-340-5p Sequencing 20371350
MIRT001497 hsa-miR-155-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29547901, 32296183
GO:0005886 Component Plasma membrane TAS 8034131
GO:0007268 Process Chemical synaptic transmission TAS 8034131
GO:0008021 Component Synaptic vesicle IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616665 11507 ENSG00000008282
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16563
Protein name Synaptophysin-like protein 1 (Pantophysin)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01284 MARVEL 28 231 Membrane-associating domain Domain
Sequence
Sequence length 259
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Intellectual disability Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Albinism Albinism Pubtator 35328057 Associate
★☆☆☆☆
Found in Text Mining only
Albinism Oculocutaneous Oculocutaneous albinism Pubtator 35328057 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34836952 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 40646442 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28731154
★☆☆☆☆
Found in Text Mining only
Papillary thyroid carcinoma Papillary thyroid carcinoma BEFREE 30539831
★☆☆☆☆
Found in Text Mining only
Thyroid Cancer Papillary Papillary thyroid cancer Pubtator 30539831 Associate
★☆☆☆☆
Found in Text Mining only