CLBA1 (clathrin binding box of aftiphilin containing 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 122616
Gene name Clathrin binding box of aftiphilin containing 1
Gene symbol CLBA1
Synonyms (NCBI Gene)
C14orf79
Chromosome 14
Chromosome location 14q32.33
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0030121 Component AP-1 adaptor complex IBA
GO:0030276 Function Clathrin binding IBA
GO:0030276 Function Clathrin binding IEA
GO:0032588 Component Trans-Golgi network membrane IBA
GO:0032588 Component Trans-Golgi network membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96F83
Protein name Uncharacterized protein CLBA1 (Clathrin-binding box of aftiphilin-containing protein 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15045 Clathrin_bdg 193 → 272 Clathrin-binding box of Aftiphilin, vesicle trafficking Family
Sequence 
MQGRRELGGEPLSDLQEEAASASLRVAPERLSDDSLEWRRTCPDLLLSDGKASISMPREG
GSTCTARCPDPGEHSSTWGEFEGFRESSAKSGQFSQSLELLEGPTEPQPPRTTSAPKECS
SHQPCQGGPWVTGTSAVPPSEPILSYENILKCAFQEITVQQAAEDVSTIDHFLEISSEEK
PGVERVHKLCNESRKLWRALQSIHTTSTSQRLWSESRCQENFFLVLGIDAAQKNLSGGQG
HIMEDCDLKEPEGLLTVSSFCLQHCKALIQTKLSGPPGSKQGRLMTCSRFLKTPSCGGGQ
HITIPRKRMFTPRKLKLTLFNSDVC
Sequence length 325
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
OLIGODENDROGLIOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 29274321 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only