IST1 IST1 factor associated with ESCRT-III [Homo sapiens (human)] - Gene

Summary

Official Symbol: IST1provided by HGNC
Official Full Name: IST1 factor associated with ESCRT-IIIprovided by HGNC
Primary source: HGNC:HGNC:28977
See related: Ensembl:ENSG00000182149 MIM:616434; AllianceGenome:HGNC:28977
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OLC1; CHMP8
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. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Expression: Ubiquitous expression in bone marrow (RPKM 49.3), gall bladder (RPKM 37.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (71894408..71931199)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77711542..77748323)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (71928311..71965102)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cigarette smoking-related OLC1 overexpression associated with poor prognosis in bladder urothelial carcinoma.
Title: Cigarette smoking-related OLC1 overexpression associated with poor prognosis in bladder urothelial carcinoma.
Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1.
Title: Friction-driven membrane scission by the human ESCRT-III proteins CHMP1B and IST1.
To learn how certain ESCRT-IIIs shape positively curved membranes, we determined structures of human membrane-bound CHMP1B-only, membrane-bound CHMP1B + IST1, and IST1-only filaments by cryo-EM
Title: Membrane constriction and thinning by sequential ESCRT-III polymerization.
Visualization of IST1 structures in cells lacking the microtubule-severing enzyme spastin and in cells depleted of specific ESCRT-III components or the ATPase VPS4 demonstrated the contribution of these components to the organization and function of ESCRTs in cells.
Title: Resolving ESCRT-III Spirals at the Intercellular Bridge of Dividing Cells Using 3D STORM.
Nuclear overexpression of OLC1 was associated with clinicopathological parameters and could predict a poor overall survival in gastric adenocarcinoma.
Title: Nuclear overexpression of the overexpressed in lung cancer 1 predicts worse prognosis in gastric adenocarcinoma.
The expression of OLC1 in the tumor tissues of lung adenocarcinoma is higher than that in squamous cell carcinoma.
Title: [Overexpression of OLC1 in Lung Squamous Cell Carcinoma Tissues is Associated with Poor Prognosis of Patients].
Structural and biochemical studies reveal an unusually tight interaction between ULK3 and IST1, an ESCRT-III subunit required for cytokinetic abscission.
Title: ULK3 regulates cytokinetic abscission by phosphorylating ESCRT-III proteins.
Crystal structures of three molecular complexes reveal that IST1 binds to the MIT domains of VPS4 and LIP5.
Title: Distinct mechanisms of recognizing endosomal sorting complex required for transport III (ESCRT-III) protein IST1 by different microtubule interacting and trafficking (MIT) domains.
Overexpression of OLC1 promotes tumorigenesis of human esophageal squamous cell carcinoma.
Title: Overexpression of OLC1 promotes tumorigenesis of human esophageal squamous cell carcinoma.
Findings indicate that a high expression level of overexpressed in lung cancer 1 (OLC1) serves as a biomarker for poor prognosis for breast cancer, suggesting that OLC1 may be a potential target of antiangiogenic therapy for breast cancer.
Title: OLC1 is overexpressed in breast cancer and its expression correlates with poor patient survival.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S846 (e-PCR)
- UniSTS:154129

RH91143 (e-PCR)
- UniSTS:84009

D16S2946 (e-PCR)
- UniSTS:26484

GDB:451592 (e-PCR)
- UniSTS:157321

RH25390 (e-PCR)
- UniSTS:91793

SHGC-60641 (e-PCR)
- UniSTS:56229

NIB727 (e-PCR)
- UniSTS:2812

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MIT domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ESCRT III complex disassembly	NAS Non-traceable Author Statement more info	PubMed
involved_in cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in cytoskeleton-dependent cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in midbody abscission	IDA Inferred from Direct Assay more info	PubMed
involved_in midbody abscission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multivesicular body assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Flemming body	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: IST1 homolog

Names: IST1, ESCRT-III associated factor; IST1, endosomal sorting complex required for transport-III component; charged multivesicular body protein 8; increased sodium tolerance 1 homolog; overexpressed in lung cancer 1; putative MAPK-activating protein PM28

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001270975.2 → NP_001257904.1 IST1 homolog isoform a

See identical proteins and their annotated locations for NP_001257904.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a (also known as hIST1c).

Source sequence(s)

AC009127, BC103745

Consensus CDS

CCDS59272.1

UniProtKB/Swiss-Prot

A8KAH5, J3QLU7, P53990, Q3SYM4, Q9BQ81, Q9BWN2

Related

ENSP00000368076.6, ENST00000378799.11

Conserved Domains (1) summary

pfam03398
Location:12 → 176

Ist1; Regulator of Vps4 activity in the MVB pathway
NM_001270976.1 → NP_001257905.1 IST1 homolog isoform c

See identical proteins and their annotated locations for NP_001257905.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate in-frame start codon, compared to variant 1. The encoded isoform (c) has a longer N-terminus, compared to isoform a.

Source sequence(s)

AC009127, AK293040, DA332434

Consensus CDS

CCDS59271.1

UniProtKB/Swiss-Prot

A8KAH5, J3QLU7, P53990, Q3SYM4, Q9BQ81, Q9BWN2

Related

ENSP00000438399.1, ENST00000535424.5

Conserved Domains (1) summary

pfam03398
Location:26 → 189

Ist1; Regulator of Vps4 activity in the MVB pathway
NM_001270977.2 → NP_001257906.1 IST1 homolog isoform d

See identical proteins and their annotated locations for NP_001257906.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d, also known as hIST1d) is shorter than isoform a.

Source sequence(s)

AC009127, BC000116, DA698420

Consensus CDS

CCDS59273.1

UniProtKB/Swiss-Prot

A8KAH5, J3QLU7, P53990, Q3SYM4, Q9BQ81, Q9BWN2

UniProtKB/TrEMBL

A8K5S3

Related

ENSP00000368075.5, ENST00000378798.9

Conserved Domains (1) summary

pfam03398
Location:13 → 176

Ist1; Regulator of Vps4 activity in the MVB pathway
NM_001270978.2 → NP_001257907.1 IST1 homolog isoform e

See identical proteins and their annotated locations for NP_001257907.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three exons in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter than isoform a. Both variants 5 and 6 encode the same isoform (e).

Source sequence(s)

AC009127, AK057902, BX364250, DA698420

Consensus CDS

CCDS59274.1

UniProtKB/TrEMBL

B4DXC9

Related

ENSP00000463711.1, ENST00000538850.5

Conserved Domains (1) summary

pfam03398
Location:1 → 28

Ist1; Regulator of Vps4 activity in the MVB pathway
NM_001270979.1 → NP_001257908.1 IST1 homolog isoform e

See identical proteins and their annotated locations for NP_001257908.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks four exons in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) is shorter than isoform a. Both variants 5 and 6 encode the same isoform (e).

Source sequence(s)

AC009127, AK301918, DA698420

Consensus CDS

CCDS59274.1

UniProtKB/TrEMBL

B4DXC9

Related

ENSP00000475853.1, ENST00000606369.5

Conserved Domains (1) summary

pfam03398
Location:1 → 28

Ist1; Regulator of Vps4 activity in the MVB pathway
NM_014761.4 → NP_055576.2 IST1 homolog isoform b

See identical proteins and their annotated locations for NP_055576.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b, also known as hIST1b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC009127, BC000430, DA698420

Consensus CDS

CCDS10905.1

UniProtKB/TrEMBL

B4DM80

Related

ENSP00000330408.8, ENST00000329908.12

Conserved Domains (1) summary

pfam03398
Location:13 → 176

Ist1; Regulator of Vps4 activity in the MVB pathway