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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.

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(31)

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, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005635	Component	Nuclear envelope	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	10942595
GO:0005813	Component	Centrosome	IDA	19129479, 20719964
GO:0005829	Component	Cytosol	IDA	19129480
GO:0008104	Process	Protein localization	IBA	21873635
GO:0008104	Process	Protein localization	IMP	20719964
GO:0009838	Process	Abscission	IDA	19129479, 19129480
GO:0009838	Process	Abscission	IMP	19525971
GO:0015031	Process	Protein transport	IEA
GO:0019076	Process	Viral release from host cell	IDA	19129479
GO:0019904	Function	Protein domain specific binding	IPI	20719964, 20849418
GO:0030496	Component	Midbody	IDA	19129479, 20719964
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036258	Process	Multivesicular body assembly	NAS	20588296
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
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:0046745	Process	Viral capsid secondary envelopment	IDA	19129479
GO:0048672	Process	Positive regulation of collateral sprouting	IEA
GO:0051301	Process	Cell division	IMP	19129479, 19129480, 20719964
GO:0061640	Process	Cytoskeleton-dependent cytokinesis	IMP	19525971
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
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

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
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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Stomach Neoplasms	Associate	28038462

IST1 (IST1 factor associated with ESCRT-III)