Gene Gene information from NCBI Gene database.
Entrez ID 29993
Gene name Protein kinase C and casein kinase substrate in neurons 1
Gene symbol PACSIN1
Synonyms (NCBI Gene)
SDPI
Chromosome 6
Chromosome location 6p21.31
miRNA miRNA information provided by mirtarbase database.
275
miRTarBase ID miRNA Experiments Reference
MIRT484692 hsa-miR-1178-5p PAR-CLIP 23592263
MIRT484691 hsa-miR-4768-3p PAR-CLIP 23592263
MIRT484690 hsa-miR-4459 PAR-CLIP 23592263
MIRT484689 hsa-miR-4433a-3p PAR-CLIP 23592263
MIRT484688 hsa-miR-6087 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 16318909, 17161366, 17500595, 20936779, 21044950, 25036101, 25416956, 28514442, 31413325, 31515488, 32296183, 32814053, 33961781
GO:0005543 Function Phospholipid binding IBA
GO:0005543 Function Phospholipid binding IDA 19549836
GO:0005543 Function Phospholipid binding IEA
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606512 8570 ENSG00000124507
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BY11
Protein name Protein kinase C and casein kinase substrate in neurons protein 1 (Syndapin-1)
Protein function Plays a role in the reorganization of the microtubule cytoskeleton via its interaction with MAPT; this decreases microtubule stability and inhibits MAPT-induced microtubule polymerization. Plays a role in cellular transport processes by recruiti
PDB 3HAH , 3HAI , 3Q84 , 3QNI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 24 100 Fes/CIP4, and EFC/F-BAR homology domain Family
PF14604 SH3_9 392 442 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain and, at much lower levels, in heart and pancreas. {ECO:0000269|PubMed:11179684}.
Sequence
MSSSYDEASLAPEETTDSFWEVGNYKRTVKRIDDGHRLCNDLMNCVQERAKIEKAYGQQL
TDWAKRWRQLIEKGPQYGSLERAWGAIMTEADKVSELHQE
VKNNLLNEDLEKVKNWQKDA
YHKQIMGGFKETKEAEDGFRKAQKPWAKKMKELEAAKKAYHLACKEEKLAMTREMNSKTE
QSVTPEQQKKLQDKVDKCKQDVQKTQEKYEKVLEDVGKTTPQYMENMEQVFEQCQQFEEK
RLVFLKEVLLDIKRHLNLAENSSYIHVYRELEQAIRGADAQEDLRWFRSTSGPGMPMNWP
QFEEWNPDLPHTTTKKEKQPKKAEGVALTNATGAVESTSQAGDRGSVSSYDRGQPYATEW
SDDESGNPFGGSETNGGANPFEDDSKGVRVRALYDYDGQEQDELSFKAGDELTKLGEEDE
QGWCRGRLDSGQLGLYPANYVE
AI
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Clathrin-mediated endocytosis
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Cognition Disorders Cognition disorder Pubtator 40494419 Associate
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 35299244 Associate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 12354780
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 22761659 Associate
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 24204982 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 40494419 Associate
★☆☆☆☆
Found in Text Mining only
Varicosity Vulval varices BEFREE 12354780
★☆☆☆☆
Found in Text Mining only