PHAF1 (phagophore assembly factor 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 80262
Gene name Phagophore assembly factor 1
Gene symbol PHAF1
Synonyms (NCBI Gene)
C16orf6C16orf70LIN10MYTHOlin-10
Chromosome 16
Chromosome location 16q22.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0000407 Component Phagophore assembly site IDA 33499712
GO:0000407 Component Phagophore assembly site IEA
GO:0005515 Function Protein binding IPI 16713569, 25416956, 31515488, 32296183, 32814053, 33499712, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005802 Component Trans-Golgi network IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BSU1
Protein name Phagosome assembly factor 1
Protein function Plays a regulatory role in autophagic activity. In complex with BCAS3, associates with the autophagosome formation site during both non-selective and selective autophagy.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03676 UPF0183 15 → 407 Uncharacterised protein family (UPF0183) Family
Sequence 
MLDLEVVPERSLGNEQWEFTLGMPLAQAVAILQKHCRIIKNVQVLYSEQSPLSHDLILNL
TQDGIKLMFDAFNQRLKVIEVCDLTKVKLKYCGVHFNSQAIAPTIEQIDQSFGATHPGVY
NSAEQLFHLNFRGLSFSFQLDSWTEAPKYEPNFAHGLASLQIPHGATVKRMYIYSGNSLQ
DTKAPMMPLSCFLGNVYAESVDVLRDGTGPAGLRLRLLAAGCGPGLLADAKMRVFERSVY
FGDSCQDVLSMLGSPHKVFYKSEDKMKIHSPSPHKQVPSKCNDYFFNYFTLGVDILFDAN
THKVKKFVLHTNYPGHYNFNIYHRCEFKIPLAIKKENADGQTETCTTYSKWDNIQELLGH
PVEKPVVLHRSSSPNNTNPFGSTFCFGLQRMIFEVMQNNHIASVTLYGPPRPGSHLRTAE
LP
Sequence length 422
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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 Reference Evidence Score
SCOLIOSIS — GWAS catalog 30019117
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for PHAF1.

No additional diseases found yet through genes similar to PHAF1.