Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9798
Gene name	IST1 factor associated with ESCRT-III
Gene symbol	IST1
Synonyms (NCBI Gene)	CHMP8OLC1
Chromosome	16
Chromosome location	16q22.2
Summary	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.

Show/Hide all (9)

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
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

Show/Hide all (38)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	10942595
GO:0005813	Component	Centrosome	IDA	19129479, 20719964
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA	19129480
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008104	Process	Intracellular protein localization	IMP	20719964
GO:0015031	Process	Protein transport	IEA
GO:0019904	Function	Protein domain specific binding	IPI	20719964, 20849418
GO:0030496	Component	Midbody	IDA	19129479, 20719964
GO:0030496	Component	Midbody	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036258	Process	Multivesicular body assembly	NAS	20588296
GO:0042802	Function	Identical protein binding	IPI	19525971
GO:0044877	Function	Protein-containing complex binding	IDA	19129479
GO:0045184	Process	Establishment of protein localization	IMP	23015756
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045862	Process	Positive regulation of proteolysis	IDA	20849418
GO:0048668	Process	Collateral sprouting	IEA
GO:0048672	Process	Positive regulation of collateral sprouting	IEA
GO:0051301	Process	Cell division	IEA
GO:0051301	Process	Cell division	IMP	19129479, 19129480, 20719964
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IMP	19525971
GO:0061952	Process	Midbody abscission	IDA	19129479, 19129480
GO:0061952	Process	Midbody abscission	IMP	19525971
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21557262
GO:0090541	Function	MIT domain binding	IPI	19129479, 19129480
GO:0090543	Component	Flemming body	IDA	19129479
GO:1904903	Process	ESCRT III complex disassembly	NAS	20588296

MIM	HGNC	e!Ensembl
616434	28977	ENSG00000182149

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
ADQLCAKYSKEYGKLCRTNQIGTVNDRLMHKLSVEAPPKILVERYLIEIAKNYNVPYEPD
SVVMAEAPPGVETDLIDVGFTDDVKKGGPGRGGSGGFTAPVGGPDGTVPMPMPMPMPSAN
TPFSYPLPKGPSDFNGLPMGTYQAFPNIHPPQIPATPPSYESVDDINADKNISSAQIVGP
GPKPEASAKLPSRPADNYDNFVLPELPSVPDTLPTASAGASTSASEDIDFDDLSRRFEEL
KKKT

Sequence length

364

Interactions

View interactions

	KEGG		Reactome
	Virion - Hepatitis viruses Endocytosis		Neutrophil degranulation Sealing of the nuclear envelope (NE) by ESCRT-III

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)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	24880589		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24880589	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28038462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	24608342	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19001599, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24608342, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24608342, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24608342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24608342	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	28038462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	33924653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31606046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	19001599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24880589	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24880589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24608342, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19001599, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19001599, 24608342, 24880589, 30854039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19001599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24608342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28038462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

IST1 (IST1 factor associated with ESCRT-III)