Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51439
Gene name Gene Name - the full gene name approved by the HGNC.
Family with sequence similarity 8 member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FAM8A1
Synonyms (NCBI Gene) Gene synonyms aliases
AHCP
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618409 16372 ENSG00000137414
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Idiopathic intracranial hypertension N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Pseudotumor Cerebri Associate 29608535