Gene Gene information from NCBI Gene database.
Entrez ID 11153
Gene name FIC domain protein adenylyltransferase
Gene symbol FICD
Synonyms (NCBI Gene)
HIP13HYPESPG92UNQ3041
Chromosome 12
Chromosome location 12q23.3
miRNA miRNA information provided by mirtarbase database.
240
miRTarBase ID miRNA Experiments Reference
MIRT018709 hsa-miR-335-5p Microarray 18185580
MIRT029945 hsa-miR-26b-5p Microarray 19088304
MIRT625100 hsa-miR-4517 HITS-CLIP 23824327
MIRT623941 hsa-miR-3692-5p HITS-CLIP 23824327
MIRT623940 hsa-miR-5580-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005524 Function ATP binding IDA 25435325
GO:0005524 Function ATP binding IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620875 18416 ENSG00000198855
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BVA6
Protein name Protein adenylyltransferase FICD (EC 2.7.7.108) (AMPylator FICD) (De-AMPylase FICD) (EC 3.1.4.-) (FIC domain-containing protein) (Huntingtin yeast partner E) (Huntingtin-interacting protein 13) (HIP-13) (Huntingtin-interacting protein E)
Protein function Protein that can both mediate the addition of adenosine 5'-monophosphate (AMP) to specific residues of target proteins (AMPylation), and the removal of the same modification from target proteins (de-AMPylation), depending on the context (By simi
PDB 4U04 , 4U07 , 4U0S , 4U0U , 4U0Z , 6I7G , 6I7H , 6I7I , 6I7J , 6I7K , 6I7L , 6ZMD , 7B7Z , 7B80
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02661 Fic 284 381 Fic/DOC family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:19362538}.
Sequence
MMLIPMASVMAVTEPKWVSVWSRFLWVTLLSMVLGSLLALLLPLGAVEEQCLAVLKGLYL
LRSKPDRAQHAATKCTSPSTELSITSRGATLLVAKTKASPAGKLEARAALNQALEMKRQG
KREKAQKLFMHALKMDPDFVDALTEFGIFSEEDKDIIQADYLYTRALTISPYHEKALVNR
DRTLPLVEEIDQRYFSIIDSKVKKVMSIPKGNSALRRVMEETYYHHIYHTVAIEGNTLTL
SEIRHILETRYAVPGKSLEEQNEVIGMHAAMKYINTTLVSRIGSVTISDVLEIHRRVLGY
VDPVEAGRFRTTQVLVGHHIPPHPQDVEKQMQEFVQWLNSEEAMNLHPVEFAALAHYKLV
YIHPFIDGNGRTSRLLMNLIL
MQAGYPPITIRKEQRSDYYHVLEAANEGDVRPFIRFIAK
CTETTLDTLLFATTEYSVALPEAQPNHSGFKETLPVKP
Sequence length 458
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
SPASTIC PARAPLEGIA 92, AUTOSOMAL RECESSIVE ClinVar, GenCC, HPO
ClinVar, GenCC, HPO
★★☆☆☆
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
Motor Neuron Disease Motor neuron disease Pubtator 36136088 Associate
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Neurodegenerative disorder Pubtator 36136088 Associate
★☆☆☆☆
Found in Text Mining only