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

Gene ID: 9798, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See IST1 in Genome Data Viewer
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_000016.10Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 13 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11080 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71878951-71879723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71879724-71880495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71884603-71885382 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11084 Neighboring gene ataxin 1 like Neighboring gene zinc finger protein 821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:71918951-71919451 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71929209-71929774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11088 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:71971508-71972085 Neighboring gene polycystin 1 like 3, transient receptor potential channel interacting Neighboring gene ribosomal protein L39 pseudogene 31 Neighboring gene ATP synthase F1 subunit alpha pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cigarette smoking-related OLC1 overexpression associated with poor prognosis in bladder urothelial carcinoma. Chen H, et al. Life Sci, 2024 Aug 15. PMID 38880167
  2. [Overexpression of OLC1 in Lung Squamous Cell Carcinoma Tissues is Associated with Poor Prognosis of Patients]. Zhang K, et al. Zhongguo Fei Ai Za Zhi, 2017 May 20. PMID 28532543, Free PMC Article
  3. Nuclear overexpression of the overexpressed in lung cancer 1 predicts worse prognosis in gastric adenocarcinoma. Wang J, et al. Oncotarget, 2017 Feb 7. PMID 28038462, Free PMC Article
  4. OLC1 is overexpressed in breast cancer and its expression correlates with poor patient survival. Ou-Yang QH, et al. Tumour Biol, 2014 Sep. PMID 24880589
  5. Overexpression of OLC1 promotes tumorigenesis of human esophageal squamous cell carcinoma. Li X, et al. PLoS One, 2014. PMID 24608342, Free PMC Article

See all (100) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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].
  7. 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.
  8. 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.
  9. Overexpression of OLC1 promotes tumorigenesis of human esophageal squamous cell carcinoma.
    Title: Overexpression of OLC1 promotes tumorigenesis of human esophageal squamous cell carcinoma.
  10. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0174, MGC117220

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 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 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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    71894408..71931199
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77711542..77748323
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53990.1 GenPept UniProtKB/Swiss-Prot:P53990

Gene LinkOut

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Chemical Information
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