Gene Gene information from NCBI Gene database.
Entrez ID 84251
Gene name SH3GL interacting endocytic adaptor 1
Gene symbol SGIP1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p31.3
Summary SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [P
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT712203 hsa-miR-1183 HITS-CLIP 19536157
MIRT712202 hsa-miR-4742-3p HITS-CLIP 19536157
MIRT712201 hsa-miR-4775 HITS-CLIP 19536157
MIRT712203 hsa-miR-1183 HITS-CLIP 19536157
MIRT712202 hsa-miR-4742-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0002021 Process Response to dietary excess ISS
GO:0005515 Function Protein binding IPI 15919751, 26822536, 28734904
GO:0005543 Function Phospholipid binding IEA
GO:0005543 Function Phospholipid binding ISS
GO:0005737 Component Cytoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611540 25412 ENSG00000118473
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BQI5
Protein name SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
Protein function May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphat
PDB 5AWR , 5AWS , 5AWT , 5AWU , 6A9Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10291 muHD 560 827 Muniscin C-terminal mu homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:15919751}.
Sequence
MMEGLKKRTRKAFGIRKKEKDTDSTGSPDRDGIQPSPHEPPYNSKAECAREGGKKVSKKS
NGAPNGFYAEIDWERYNSPELDEEGYSIRPEEPGSTKGKHFYSSSESEEEEESHKKFNIK
IKPLQSKDILKNAATVDELKASIGNIALSPSPVRKSPRRSPGAIKRNLSSEEVARPRRST
PTPELISKKPPDDTTALAPLFGPPLESAFDEQKTEVLLDQPEIWGSGQPINPSMESPKLT
RPFPTGTPPPLPPKNVPATPPRTGSPLTIGPGNDQSATEVKIEKLPSINDLDSIFGPVLS
PKSVAVNAEEKWVHFSDTSPEHVTPELTPREKVVSPPATPDNPADSPAPGPLGPPGPTGP
PGPPGPPRNVLSPLNLEEVQKKVAEQTFIKDDYLETISSPKDFGLGQRATPPPPPPPTYR
TVVSSPGPGSGPGPGTTSGASSPARPATPLVPCRSTTPPPPPPRPPSRPKLPPGKPGVGD
VSRPFSPPIHSSSPPPIAPLARAESTSSISSTNSLSAATTPTVENEQPSLVWFDRGKFYL
TFEGSSRGPSPLTMGAQDTLPVAAAFTETVNAYFKGADPSKCIVKITGEMVLSFPAGITR
HFANNPSPAALTFRVINFSRLEHVLPNPQLLCCDNTQNDANTKEFWVNMPNLMTHLKKVS
EQKPQATYYNVDMLKYQVSAQGIQSTPLNLAVNWRCEPSSTDLRIDYKYNTDAMTTAVAL
NNVQFLVPIDGGVTKLQAVLPPAVWNAEQQRILWKIPDISQKSENGGVGSLLARFQLSEG
PSKPSPLVVQFTSEGSTLSGCDIELVGAGYRFSLIKKRFAAGKYLAD
N
Sequence length 828
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alcoholism Associate 20421487
★☆☆☆☆
Found in Text Mining only
Epilepsy Associate 37192718
★☆☆☆☆
Found in Text Mining only
Glioma Associate 37192718
★☆☆☆☆
Found in Text Mining only