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 ha... See more...

Aliases for IST1 Gene

Aliases for IST1 Gene

  • IST1 Factor Associated With ESCRT-III 2 3 5
  • IST1, Endosomal Sorting Complex Required For Transport-III Component 2 3
  • Putative MAPK-Activating Protein PM28 3 4
  • IST1, ESCRT-III Associated Factor 2 3
  • IST1 Homolog 3 4
  • KIAA0174 2 4
  • Increased Sodium Tolerance 1 Homolog (Yeast) 2
  • Increased Sodium Tolerance 1 Homolog 3
  • Overexpressed In Lung Cancer 1 3
  • CHMP8 3
  • HIST1 4
  • OLC1 3

External Ids for IST1 Gene

Previous HGNC Symbols for IST1 Gene

  • KIAA0174

Previous GeneCards Identifiers for IST1 Gene

  • GC16P071930
  • GC16P071881

Summaries for IST1 Gene

Entrez Gene Summary for IST1 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. 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]

GeneCards Summary for IST1 Gene

IST1 (IST1 Factor Associated With ESCRT-III) is a Protein Coding gene. Diseases associated with IST1 include Lung Squamous Cell Carcinoma. Among its related pathways are Innate Immune System and Endocytosis. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and MIT domain binding.

UniProtKB/Swiss-Prot Summary for IST1 Gene

  • ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888).

Gene Wiki entry for IST1 Gene

Additional gene information for IST1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IST1 Gene

Genomics for IST1 Gene

GeneHancer (GH) Regulatory Elements for IST1 Gene

Promoters and enhancers for IST1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J071893 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 760.9 +49.8 49789 4 ZNF785 SIN3A ZBTB40 SP1 LCORL FOXA1 MLX RBPJ SMARCE1 POLR2A IST1 ZNF821 lnc-ZNF821-2 piR-32284 piR-51338 PHLPP2 HYDIN ZNF23 ENSG00000261673 ENSG00000260520
GH16J071844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 774.7 +0.1 125 2.6 ZNF24 ZBTB40 SP1 SREBF1 SIX5 MLX SMARCE1 RBPJ POLR2A USF2 IST1 ATXN1L lnc-IST1-1 lnc-ZNF821-5 DHX38 MARVELD3 ZNF19 NONHSAG019905.2 L13705-006
GH16J071915 Promoter/Enhancer 0.9 EPDnew Ensembl 758.8 +68.0 68005 4 HLF MAFK CEBPA ZNF316 SOX13 JUN HNF4A BCL6 RARA YY1 IST1 PHLPP2 MARVELD3 piR-54136 piR-51338
GH16J072092 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 46.9 +247.8 247805 3.6 E2F8 SIN3A SP1 ZBTB40 SREBF1 SIX5 ZBTB6 MLX RBPJ POLR2A DHX38 TXNL4B IST1 ATXN1L DHODH CMTR2 ENSG00000260664 AP1G1 HP
GH16J071807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 39.3 -36.8 -36780 5.6 E2F8 ZNF785 SIN3A SP1 ZBTB40 SIX5 SMARCE1 RBPJ POLR2A CTBP1 AP1G1 lnc-ZNF821-3 DHX38 IST1 HYDIN PHLPP2 ZNF23 CMTR2 ATXN1L ZNF19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IST1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IST1 Gene

Genomic Locations for IST1 Gene
chr16:71,845,996-71,931,199
(GRCh38/hg38)
Size:
85,204 bases
Orientation:
Plus strand
chr16:71,879,899-71,962,913
(GRCh37/hg19)
Size:
83,015 bases
Orientation:
Plus strand

Genomic View for IST1 Gene

Genes around IST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IST1 Gene

Proteins for IST1 Gene

  • Protein details for IST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53990-IST1_HUMAN
    Recommended name:
    IST1 homolog
    Protein Accession:
    P53990
    Secondary Accessions:
    • A8KAH5
    • J3QLU7
    • Q3SYM4
    • Q9BQ81
    • Q9BWN2

    Protein attributes for IST1 Gene

    Size:
    364 amino acids
    Molecular mass:
    39751 Da
    Quaternary structure:
    • Interacts with CHMP1A, CHMP1B, VPS4A and VTA1. Interacts with SPAST, STAMBP, and USP8. May interact with VPS37B. May associate with the ESCRT-I complex. Interacts with MITD1, in competition with VSP4 (PubMed:23015756). Interacts with SPART (via MIT domain); leading to the recruitment of SPART to midbodies (PubMed:20719964). Interacts with SPAST (PubMed:23897888, PubMed:26040712).
    SequenceCaution:
    • Sequence=BAA11491.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IST1 Gene

    Alternative splice isoforms for IST1 Gene

neXtProt entry for IST1 Gene

Post-translational modifications for IST1 Gene

  • Ubiquitination at Lys7 and Lys118
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IST1 Gene

Domains & Families for IST1 Gene

Gene Families for IST1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for IST1 Gene

Suggested Antigen Peptide Sequences for IST1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77725 (A8KAH5_HUMAN)
  • Putative MAPK-activating protein PM28 (IST1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53990

UniProtKB/Swiss-Prot:

IST1_HUMAN :
  • Belongs to the IST1 family.
Family:
  • Belongs to the IST1 family.
genes like me logo Genes that share domains with IST1: view

Function for IST1 Gene

Molecular function for IST1 Gene

UniProtKB/Swiss-Prot Function:
ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888).

Phenotypes From GWAS Catalog for IST1 Gene

Gene Ontology (GO) - Molecular Function for IST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019904 protein domain specific binding IPI 20719964
GO:0044877 protein-containing complex binding IDA 19129479
GO:0045296 cadherin binding HDA 25468996
GO:0090541 MIT domain binding IPI 19129479
genes like me logo Genes that share ontologies with IST1: view
genes like me logo Genes that share phenotypes with IST1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IST1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IST1 Gene

Localization for IST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IST1 Gene

Cytoplasmic vesicle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Nucleus envelope. Note=Localizes to centrosome and midbody of dividing cells (PubMed:19129480, PubMed:19129479, PubMed:20719964). Colocalized with SPART to the ends of Flemming bodies during cytokinesis (PubMed:20719964). Localizes to the nuclear envelope during late anaphase (PubMed:26040712). {ECO:0000269 PubMed:19129479, ECO:0000269 PubMed:19129480, ECO:0000269 PubMed:20719964, ECO:0000269 PubMed:26040712}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IST1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
lysosome 4
nucleus 3
endosome 2
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 28242692
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with IST1: view

Pathways & Interactions for IST1 Gene

PathCards logo

SuperPathways for IST1 Gene

genes like me logo Genes that share pathways with IST1: view

Pathways by source for IST1 Gene

3 Reactome pathways for IST1 Gene
1 KEGG pathway for IST1 Gene

Gene Ontology (GO) - Biological Process for IST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0008104 protein localization IBA,IMP 20719964
GO:0009838 abscission IMP 19525971
GO:0015031 protein transport IEA --
GO:0019076 viral release from host cell IDA 19129479
genes like me logo Genes that share ontologies with IST1: view

No data available for SIGNOR curated interactions for IST1 Gene

Drugs & Compounds for IST1 Gene

No Compound Related Data Available

Transcripts for IST1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IST1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IST1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b · 11c · 11d ^ 12a ·
SP1: - - - - - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - -
SP9: - - - - - -
SP10: - - - - - - - - - - - - - - - -
SP11: - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - -
SP14: - - - - - -
SP15: - - - - -
SP16: - - - - - - - - - - - -
SP17:
SP18: - -
SP19: - - - - - - - -
SP20: - - - - - - - - - - - - - - -
SP21:
SP22:
SP23:

ExUns: 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d
SP1: - -
SP2: - -
SP3: - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22: - - -
SP23:

Relevant External Links for IST1 Gene

GeneLoc Exon Structure for
IST1
ECgene alternative splicing isoforms for
IST1

Expression for IST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IST1 Gene

Protein differential expression in normal tissues from HIPED for IST1 Gene

This gene is overexpressed in Breast (16.8) and Urine (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IST1 Gene



Protein tissue co-expression partners for IST1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IST1 Gene:

IST1

SOURCE GeneReport for Unigene cluster for IST1 Gene:

Hs.232194

Evidence on tissue expression from TISSUES for IST1 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Liver(4.6)
  • Eye(4.5)
  • Bone marrow(4.4)
  • Kidney(4.1)
  • Intestine(4)
  • Spleen(3.7)
  • Blood(3.5)
  • Skin(3.3)
genes like me logo Genes that share expression patterns with IST1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IST1 Gene

Orthologs for IST1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IST1 32
  • 98.71 (n)
dog
(Canis familiaris)
Mammalia IST1 33 32
  • 93.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IST1 33 32
  • 91.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ist1 17 33 32
  • 89.96 (n)
rat
(Rattus norvegicus)
Mammalia Ist1 32
  • 89.84 (n)
oppossum
(Monodelphis domestica)
Mammalia IST1 33
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IST1 33
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves IST1 33 32
  • 79.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IST1 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ist1 32
  • 69.89 (n)
Str.10305 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.25431 32
zebrafish
(Danio rerio)
Actinopterygii ist1 33 32
  • 67.15 (n)
OneToOne
Dr.1122 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2448 32
fruit fly
(Drosophila melanogaster)
Insecta CG10103 33 32
  • 55.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005882 32
  • 52.03 (n)
worm
(Caenorhabditis elegans)
Secernentea istr-1 33
  • 36 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IST1 35 33
  • 29 (a)
Species where no ortholog for IST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IST1 Gene

ENSEMBL:
Gene Tree for IST1 (if available)
TreeFam:
Gene Tree for IST1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IST1: view image

Paralogs for IST1 Gene

Pseudogenes.org Pseudogenes for IST1 Gene

genes like me logo Genes that share paralogs with IST1: view

No data available for Paralogs for IST1 Gene

Variants for IST1 Gene

Sequence variations from dbSNP and Humsavar for IST1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000025639 -- 71,899,094(+) A/T intron_variant
rs1000108891 -- 71,923,567(+) C/G intron_variant
rs1000192989 -- 71,916,899(+) C/T intron_variant
rs1000214207 -- 71,903,001(+) C/A intron_variant
rs1000224223 -- 71,917,212(+) T/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for IST1 Gene

Variant ID Type Subtype PubMed ID
nsv1055854 CNV loss 25217958
nsv1862 CNV insertion 18451855
nsv7285 OTHER inversion 18451855
nsv977999 CNV duplication 23825009

Variation tolerance for IST1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IST1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IST1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IST1 Gene

Disorders for IST1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IST1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lung squamous cell carcinoma
  • epidermoid cell carcinoma of the lung
- elite association - COSMIC cancer census association via MalaCards
Search IST1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IST1

genes like me logo Genes that share disorders with IST1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IST1 Gene

Publications for IST1 Gene

  1. Essential role of hIST1 in cytokinesis. (PMID: 19129480) Agromayor M … Martin-Serrano J (Molecular biology of the cell 2009) 2 3 4 56
  2. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 8724849) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1996) 2 3 4 56
  3. Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing. (PMID: 26040712) Vietri M … Stenmark H (Nature 2015) 3 4 56
  4. An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome. (PMID: 23897888) Allison R … Reid E (The Journal of cell biology 2013) 3 4 56
  5. MITD1 is recruited to midbodies by ESCRT-III and participates in cytokinesis. (PMID: 23015756) Lee S … Blackstone C (Molecular biology of the cell 2012) 3 4 56

Products for IST1 Gene

Sources for IST1 Gene