Gene Gene information from NCBI Gene database.
Entrez ID 644145
Gene name Exocyst complex component 1 like
Gene symbol EXOC1L
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q12
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A1B0GW35
Protein name Exocyst complex component 1-like
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15277 Sec3-PIP2_bind 31 120 Exocyst complex component SEC3 N-terminal PIP2 binding PH Domain
Sequence
MSSLVKEDLEKKLFKPLSQNLYEFIEIEFSVQDRYYLCVSVTKKEEVKIVMVKHYRIGLD
EKYEVTKKWSLNDLQMIDGKEADTDNPFFDLHFKKVYSLEAYSCASKYAFARTVNKLNHA

YLKKDLQIVNFDSTYINDDSIWSSNNKDCLVLMRICFYAFNLVCLSLCPLPL
Sequence length 172
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
HYPERALDOSTERONISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations