Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9798
Gene name Gene Name - the full gene name approved by the HGNC.
IST1 factor associated with ESCRT-III
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IST1
Synonyms (NCBI Gene) Gene synonyms aliases
CHMP8, OLC1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023986 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT442056 hsa-miR-1183 PAR-CLIP 22100165
MIRT442055 hsa-miR-1278 PAR-CLIP 22100165
MIRT442054 hsa-miR-4712-3p PAR-CLIP 22100165
MIRT442053 hsa-miR-192-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 28242692
GO:0005515 Function Protein binding IPI 16189514, 16713569, 19129479, 19129480, 19525971, 20719964, 20849418, 23045692, 24953135, 25416956, 26040712, 26634441, 32296183, 32814053, 33961781, 35271311
GO:0005576 Component Extracellular region TAS
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
616434 28977 ENSG00000182149
Protein
UniProt ID P53990
Protein name IST1 homolog (hIST1) (Charged multivesicular body protein 8) (CHMP8) (Putative MAPK-activating protein PM28)
Protein function ESCRT-III-like protein involved in cytokinesis, nuclear envelope reassembly and endosomal tubulation (PubMed:19129479, PubMed:26040712, PubMed:28242692). Is required for efficient abscission during cytokinesis (PubMed:19129479). Involved in recr
PDB 3FRR , 3FRS , 3JC1 , 4U7E , 4U7I , 4U7Y , 4WZX , 6E8G , 6TZ4 , 6TZ5 , 6TZA , 7S7J , 8UC6 , 8V2Q , 8V2R , 8V2S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03398 Ist1 12 176 Regulator of Vps4 activity in the MVB pathway Family
Sequence
MLGSGFKAERLRVNLRLVINRLKLLEKKKTELAQKARKEIADYLAAGKDERARIRVEHII
REDYLVEAMEILELYCDLLLARFGLIQSMKELDSGLAESVSTLIWAAPRLQSEVAELKIV
ADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVP
YEPD
SVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPSAN
TPFSYPLPKGPSDFNGLPMGTYQAFPNIHPPQIPATPPSYESVDDINADKNISSAQIVGP
GPKPEASAKLPSRPADNYDNFVLPELPSVPDTLPTASAGASTSASEDIDFDDLSRRFEEL
KKKT
Sequence length 364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Virion - Hepatitis viruses
Endocytosis
  Neutrophil degranulation
Sealing of the nuclear envelope (NE) by ESCRT-III
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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
Breast Cancer Breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Stimulate 24880589
Carcinogenesis Associate 28038462
Carcinoma in Situ Stimulate 24608342
Drug Related Side Effects and Adverse Reactions Associate 24608342
Esophageal Neoplasms Associate 24608342
Esophageal Squamous Cell Carcinoma Stimulate 24608342
Hearing Loss Associate 33924653
Lymphatic Metastasis Associate 24880589
Neoplasm Invasiveness Associate 24608342
Retinal Dysplasia Associate 24608342