Gene Gene information from NCBI Gene database.
Entrez ID 51439
Gene name Family with sequence similarity 8 member A1
Gene symbol FAM8A1
Synonyms (NCBI Gene)
AHCP
Chromosome 6
Chromosome location 6p22.3
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT023417 hsa-miR-30b-5p Sequencing 20371350
MIRT050814 hsa-miR-17-5p CLASH 23622248
MIRT044206 hsa-miR-99b-5p CLASH 23622248
MIRT639751 hsa-miR-590-3p HITS-CLIP 23824327
MIRT639750 hsa-miR-4775 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0000836 Component Hrd1p ubiquitin ligase complex IDA 28827405
GO:0005515 Function Protein binding IPI 22119785, 28827405, 33961781
GO:0016020 Component Membrane IEA
GO:0036503 Process ERAD pathway IC 28827405
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618409 16372 ENSG00000137414
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBU6
Protein name Protein FAM8A1 (Autosomal highly conserved protein)
Protein function Plays a role in the assembly of the HRD1 complex, a complex involved in the ubiquitin-proteasome-dependent process of ER-associated degradation (ERAD).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06271 RDD 243 403 RDD family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with a higher level of expression in testis. {ECO:0000269|PubMed:11707071}.
Sequence
MAEGPEEARGHPPGQDDGGGDHEPVPSLRGPPTTAVPCPRDDPQAEPQAPGRPTAPGLAA
AAAADKLEPPRELRKRGEAASGSGAELQEQAGCEAPEAAAPRERPARLSAREYSRQVHEW
LWQSYCGYLTWHSGLAAFPAYCSPQPSPQSFPSGGAAVPQAAAPPPPQLGYYNPFYFLSP
GAAGPDPRTAAGISTPAPVAGLGPRAPHVQASVRATPVTRVGSAAPSRSPSETGRQAGRE
YVIPSLAHRFMAEMVDFFILFFIKATIVLSIMHLSGIKDISKFAMHYIIEEIDEDTSMED
LQKMMVVALIYRLLVCFYEIICIWGAGGATPGKFLLGLRVVTCDTSVLIAPSRVLVIPSS
NVSITTSTIRALIKNFSIASFFPAFITLLFFQHNRTAYDIVAG
TIVVKRNGVR
Sequence length 413
Interactions View interactions
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION 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
Pseudotumor Cerebri intracranial hypertension GWASCAT_DG 29608535
★☆☆☆☆
Found in Text Mining only