Gene Gene information from NCBI Gene database.
Entrez ID 51024
Gene name Fission, mitochondrial 1
Gene symbol FIS1
Synonyms (NCBI Gene)
CGI-135TTC11
Chromosome 7
Chromosome location 7q22.1
Summary The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
81
miRTarBase ID miRNA Experiments Reference
MIRT006714 hsa-miR-484 ChIP-seqImmunoblotLacZ reporter assayqRT-PCR 22510686
MIRT041016 hsa-miR-505-3p CLASH 23622248
MIRT736756 hsa-miR-483-5p Luciferase reporter assayWestern blottingImmunohistochemistry (IHC)qRT-PCRIn situ hybridization 25843291
MIRT996950 hsa-miR-1252 CLIP-seq
MIRT996951 hsa-miR-1266 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000266 Process Mitochondrial fission IBA
GO:0000266 Process Mitochondrial fission IDA 16118244, 17545159, 18845145, 23283981
GO:0000266 Process Mitochondrial fission IEA
GO:0000266 Process Mitochondrial fission IMP 18353969, 19864424
GO:0005515 Function Protein binding IPI 12861026, 16874301, 17408615, 18782765, 20826455, 21149567, 21183955, 21699783, 21701560, 25416956, 29464060, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609003 21689 ENSG00000214253
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3D6
Protein name Mitochondrial fission 1 protein (FIS1 homolog) (hFis1) (Tetratricopeptide repeat protein 11) (TPR repeat protein 11)
Protein function Involved in the fragmentation of the mitochondrial network and its perinuclear clustering (PubMed:12783892, PubMed:12861026, PubMed:14996942, PubMed:23283981). Plays a minor role in the recruitment and association of the fission mediator dynamin
PDB 1NZN , 1PC2 , 7YA9 , 7YKA , 8U1Z , 8XWX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14852 Fis1_TPR_N 33 65 Fis1 N-terminal tetratricopeptide repeat Domain
PF14853 Fis1_TPR_C 71 123 Fis1 C-terminal tetratricopeptide repeat Domain
Sequence
MEAVLNELVSVEDLLKFEKKFQSEKAAGSVSKSTQFEYAWCLVRSKYNDDIRKGIVLLEE
LLPKG
SKEEQRDYVFYLAVGNYRLKEYEKALKYVRGLLQTEPQNNQAKELERLIDKAMKK
DGL
VGMAIVGGMALGVAGLAGLIGLAVSKSKS
Sequence length 152
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal   Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Amyotrophic Lateral Sclerosis Associate 31843624
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Associate 22529290
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Associate 23333625
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Associate 30404157
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Associate 28463235
★☆☆☆☆
Found in Text Mining only
Charcot Marie Tooth Disease Associate 21890626
★☆☆☆☆
Found in Text Mining only
Fatigue Associate 23047795, 24786901
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Membranous Associate 30566949
★☆☆☆☆
Found in Text Mining only
Huntington Disease Associate 21257639
★☆☆☆☆
Found in Text Mining only
Inflammation Inhibit 31843624
★☆☆☆☆
Found in Text Mining only