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Aliases for ISM1 Gene

Aliases for ISM1 Gene

  • Isthmin 1 2 3 5
  • Isthmin 1, Angiogenesis Inhibitor 2 3
  • C20orf82 3 4
  • ISM 3 4
  • Chromosome 20 Open Reading Frame 82 2
  • Isthmin 1 Homolog (Zebrafish) 2
  • Isthmin 1 Homolog 3
  • BA149I18.1 3
  • DJ1077I2.1 3
  • Isthmin-1 3
  • Isthmin 3

External Ids for ISM1 Gene

Previous HGNC Symbols for ISM1 Gene

  • C20orf82

Previous GeneCards Identifiers for ISM1 Gene

  • GC20P013150

Summaries for ISM1 Gene

GeneCards Summary for ISM1 Gene

ISM1 (Isthmin 1) is a Protein Coding gene. Diseases associated with ISM1 include Arrhythmogenic Right Ventricular Dysplasia 1. An important paralog of this gene is ISM2.

UniProtKB/Swiss-Prot for ISM1 Gene

  • Acts as an angiogenesis inhibitor.

Additional gene information for ISM1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISM1 Gene

Genomics for ISM1 Gene

Regulatory Elements for ISM1 Gene

Enhancers for ISM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H012924 1.2 Ensembl ENCODE 10.1 -295.8 -295823 2 ELF3 RB1 ARID4B FEZF1 RAD21 YY1 SLC30A9 ZNF143 IKZF2 MIXL1 ISM1 LINC01722 LOC105372535 GC20P012834
GH20H013246 1 Ensembl ENCODE 11.4 +25.9 25922 2 HDGF FOXA2 EED ATF7 ETV6 RUNX3 CREM IKZF2 HOMEZ CBFB ISM1-AS1 ISM1 ENSG00000225956 ENSG00000278153
GH20H013262 0.9 ENCODE 11.5 +40.5 40478 0 ELF3 FOXA2 ARID4B DNMT3B ZSCAN9 RAD21 YY1 ZNF143 MIXL1 HMG20B ISM1 ENSG00000225956 ENSG00000278153
GH20H013119 0.9 ENCODE 10.8 -102.1 -102063 0 FOXA2 RB1 ARID4B ZSCAN9 RAD21 SLC30A9 ZNF143 MIXL1 THAP11 KLF11 ISM1 GC20P013112 GC20P013219
GH20H013290 0.6 ENCODE 10.7 +69.7 69741 1 JUND HNF4G MAX HNF4A REST BCL6 ISM1 ENSG00000225956 ENSG00000278153
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ISM1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ISM1 Gene

Chromosome:
20
Start:
13,221,771 bp from pter
End:
13,300,651 bp from pter
Size:
78,881 bases
Orientation:
Plus strand

Genomic View for ISM1 Gene

Genes around ISM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISM1 Gene

Proteins for ISM1 Gene

  • Protein details for ISM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B1AKI9-ISM1_HUMAN
    Recommended name:
    Isthmin-1
    Protein Accession:
    B1AKI9
    Secondary Accessions:
    • Q8WVH9

    Protein attributes for ISM1 Gene

    Size:
    464 amino acids
    Molecular mass:
    52107 Da
    Quaternary structure:
    • Interacts with integrin ITGAV/ITGB5.
    SequenceCaution:
    • Sequence=CAC16127.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC36074.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX10318.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ISM1 Gene

Post-translational modifications for ISM1 Gene

  • Glycosylation at isoforms=39
  • Modification sites at PhosphoSitePlus

Other Protein References for ISM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISM1 Gene

Domains & Families for ISM1 Gene

Gene Families for ISM1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for ISM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ISM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

B1AKI9

UniProtKB/Swiss-Prot:

ISM1_HUMAN :
  • The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.
  • Belongs to the isthmin family.
Domain:
  • The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.
Family:
  • Belongs to the isthmin family.
genes like me logo Genes that share domains with ISM1: view

Function for ISM1 Gene

Molecular function for ISM1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an angiogenesis inhibitor.

Phenotypes From GWAS Catalog for ISM1 Gene

Phenotypes for ISM1 Gene

genes like me logo Genes that share phenotypes with ISM1: view

Animal Model Products

CRISPR Products

miRNA for ISM1 Gene

miRTarBase miRNAs that target ISM1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ISM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISM1 Gene

Localization for ISM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISM1 Gene

Secreted.

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 ISM1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ISM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ISM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISM1 Gene

Pathways & Interactions for ISM1 Gene

No Data Available

Interacting Proteins for ISM1 Gene

Selected Interacting proteins: B1AKI9-ISM1_HUMAN for ISM1 Gene via IID

Gene Ontology (GO) - Biological Process for ISM1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ISM1 Gene

Drugs & Compounds for ISM1 Gene

No Compound Related Data Available

Transcripts for ISM1 Gene

mRNA/cDNA for ISM1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISM1 Gene

Isthmin 1 homolog (zebrafish):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ISM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ISM1 Gene

No ASD Table

Relevant External Links for ISM1 Gene

GeneLoc Exon Structure for
ISM1
ECgene alternative splicing isoforms for
ISM1

Expression for ISM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISM1 Gene

This gene is overexpressed in Thyroid (x8.1), Artery - Tibial (x5.5), and Artery - Aorta (x4.6).

Protein differential expression in normal tissues from HIPED for ISM1 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISM1 Gene



Protein tissue co-expression partners for ISM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ISM1 Gene:

ISM1

SOURCE GeneReport for Unigene cluster for ISM1 Gene:

Hs.559353

Evidence on tissue expression from TISSUES for ISM1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with ISM1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISM1 Gene

Orthologs for ISM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISM1 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia ISM1 33 34
  • 93.97 (n)
cow
(Bos Taurus)
Mammalia C20ORF82 34
  • 93 (a)
OneToOne
ISM1 33
  • 90.66 (n)
rat
(Rattus norvegicus)
Mammalia Ism1 33
  • 89.52 (n)
mouse
(Mus musculus)
Mammalia Ism1 33 16 34
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia ISM1 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISM1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISM1 33 34
  • 74.74 (n)
lizard
(Anolis carolinensis)
Reptilia ISM1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487287 33
  • 71.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Ism 33
zebrafish
(Danio rerio)
Actinopterygii ism1 33 34
  • 67.77 (n)
Species where no ortholog for ISM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ISM1 Gene

ENSEMBL:
Gene Tree for ISM1 (if available)
TreeFam:
Gene Tree for ISM1 (if available)

Paralogs for ISM1 Gene

Paralogs for ISM1 Gene

(1) SIMAP similar genes for ISM1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ISM1: view

Variants for ISM1 Gene

Sequence variations from dbSNP and Humsavar for ISM1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000007799 -- 13,294,674(+) ACAAG(C/G)AGAGT intron-variant
rs1000015159 -- 13,266,777(+) CCTGA(A/C)TAAAA intron-variant
rs1000092771 -- 13,260,687(+) GAGCT(A/G)AATAG intron-variant
rs1000122756 -- 13,240,974(+) TGAAG(C/T)GGACA intron-variant, nc-transcript-variant, upstream-variant-2KB
rs1000133950 -- 13,295,858(+) AGATC(C/G)AAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ISM1 Gene

Variant ID Type Subtype PubMed ID
dgv4247n100 CNV gain 25217958
esv2722201 CNV deletion 23290073
esv27679 CNV loss 19812545
esv29075 CNV gain 19812545
esv3584449 CNV loss 25503493
esv3584450 CNV loss 25503493
esv3893288 CNV gain 25118596
nsv1058035 CNV loss 25217958
nsv1060853 CNV gain 25217958
nsv1126590 CNV deletion 24896259
nsv476442 CNV novel sequence insertion 20440878
nsv518184 CNV gain 19592680
nsv952987 CNV deletion 24416366

Variation tolerance for ISM1 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ISM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISM1 Gene

Disorders for ISM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ISM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 1
  • arrhythmogenic right ventricular cardiomyopathy 1
- elite association - COSMIC cancer census association via MalaCards
Search ISM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ISM1

Genetic Association Database (GAD)
ISM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ISM1
genes like me logo Genes that share disorders with ISM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISM1 Gene

Publications for ISM1 Gene

  1. Isthmin is a novel vascular permeability inducer that functions through cell-surface GRP78-mediated Src activation. (PMID: 25952901) Venugopal S … Ge R (Cardiovascular research 2015) 2 3 60
  2. Isthmin is a novel secreted angiogenesis inhibitor that inhibits tumour growth in mice. (PMID: 19874420) Xiang W … Ge R (Journal of cellular and molecular medicine 2011) 2 3 60
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 45 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Isthmin is a novel secreted protein expressed as part of the Fgf-8 synexpression group in the Xenopus midbrain-hindbrain organizer. (PMID: 12128218) Pera EM … De Robertis EM (Mechanisms of development 2002) 3 4 60

Products for ISM1 Gene

Sources for ISM1 Gene

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