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

Gene ID: 9798, updated on 6-Jan-2019

Summary

Official Symbol
IST1provided by HGNC
Official Full Name
IST1, ESCRT-III associated factorprovided by HGNC
Primary source
HGNC:HGNC:28977
See related
Ensembl:ENSG00000182149 MIM:616434
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
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

Genomic context

See IST1 in Genome Data Viewer
Location:
16q22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (71894408..71930639)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71928311..71964542)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ataxin 1 like Neighboring gene zinc finger protein 821 Neighboring gene polycystin 1 like 3, transient receptor potential channel interacting Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene dihydroorotate dehydrogenase (quinone)

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0174, MGC117220

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MIT domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ESCRT III complex disassembly NAS
Non-traceable Author Statement
more info
PubMed 
abscission IDA
Inferred from Direct Assay
more info
PubMed 
abscission IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoskeleton-dependent cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
multivesicular body assembly NAS
Non-traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of collateral sprouting IEA
Inferred from Electronic Annotation
more info
 
positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
viral capsid secondary envelopment IDA
Inferred from Direct Assay
more info
PubMed 
viral release from host cell IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Flemming body IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
IST1 homolog
Names
IST1, endosomal sorting complex required for transport-III component
increased sodium tolerance 1 homolog
overexpressed in lung cancer 1
putative MAPK-activating protein PM28

NCBI Reference Sequences (RefSeq)

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_001270975.1NP_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, DA698420
    Consensus CDS
    CCDS59272.1
    UniProtKB/Swiss-Prot
    P53990
    Related
    ENSP00000368076.6, ENST00000378799.10
    Conserved Domains (1) summary
    pfam03398
    Location:13176
    Ist1; Regulator of Vps4 activity in the MVB pathway
  2. NM_001270976.1NP_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
    P53990
    Related
    ENSP00000438399.1, ENST00000535424.5
    Conserved Domains (1) summary
    pfam03398
    Location:26189
    Ist1; Regulator of Vps4 activity in the MVB pathway
  3. NM_001270977.1NP_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
    P53990
    Related
    ENSP00000368075.5, ENST00000378798.9
    Conserved Domains (1) summary
    pfam03398
    Location:13176
    Ist1; Regulator of Vps4 activity in the MVB pathway
  4. NM_001270978.1NP_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/Swiss-Prot
    P53990
    Related
    ENSP00000463711.1, ENST00000538850.5
    Conserved Domains (1) summary
    pfam03398
    Location:128
    Ist1; Regulator of Vps4 activity in the MVB pathway
  5. NM_001270979.1NP_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:128
    Ist1; Regulator of Vps4 activity in the MVB pathway
  6. NM_014761.3NP_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/Swiss-Prot
    P53990
    Related
    ENSP00000330408.8, ENST00000329908.12
    Conserved Domains (1) summary
    pfam03398
    Location:13176
    Ist1; Regulator of Vps4 activity in the MVB pathway

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    71894408..71930639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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