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Aliases for ISM1 Gene

Aliases for ISM1 Gene

  • 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 Symbols for ISM1 Gene

  • C20orf82

Summaries for ISM1 Gene

GeneCards Summary for ISM1 Gene

ISM1 (Isthmin 1, Angiogenesis Inhibitor) is a Protein Coding gene. Diseases associated with ISM1 include indolent systemic mastocytosis. An important paralog of this gene is ISM2.

UniProtKB/Swiss-Prot for ISM1 Gene

  • Acts as an angiogenesis inhibitor.

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

Genomics for ISM1 Gene

Genomic Location for ISM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISM1 Gene

Regulatory Elements 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

Proteomics data for ISM1 Gene at MOPED

Post-translational modifications for ISM1 Gene

Other Protein References for ISM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISM1 Gene

Domains for ISM1 Gene

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
Domain:
  • The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.:
    • B1AKI9
  • Contains 1 AMOP domain.:
    • B1AKI9
  • Contains 1 TSP type-1 domain.:
    • B1AKI9
Family:
  • Belongs to the isthmin family.:
    • B1AKI9
genes like me logo Genes that share domains with ISM1: view

No data available for Gene Families for ISM1 Gene

Function for ISM1 Gene

Molecular function for ISM1 Gene

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

Phenotypes for ISM1 Gene

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

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

Localization for ISM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISM1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISM1 Gene COMPARTMENTS Subcellular localization image for ISM1 gene
Compartment Confidence
extracellular 3
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

Pathways for ISM1 Gene

SuperPathways for ISM1 Gene

No Data Available

Interacting Proteins for ISM1 Gene

Gene Ontology (GO) - Biological Process for ISM1 Gene

None

No data available for Pathways by source for ISM1 Gene

Transcripts for ISM1 Gene

mRNA/cDNA for ISM1 Gene

(1) 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:

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 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 (8.1), Artery - Tibial (5.5), and Artery - Aorta (4.6).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ISM1 Gene

SOURCE GeneReport for Unigene cluster for ISM1 Gene Hs.559353

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

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 99.6 (n)
  • 100 (a)
ISM1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C20ORF82 36
  • 93 (a)
OneToOne
ISM1 35
  • 90.66 (n)
  • 92.67 (a)
dog
(Canis familiaris)
Mammalia ISM1 35
  • 93.97 (n)
  • 95.69 (a)
ISM1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ism1 35
  • 89.15 (n)
  • 93.49 (a)
Ism1 16
Ism1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISM1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISM1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ism1 35
  • 89.52 (n)
  • 93.71 (a)
chicken
(Gallus gallus)
Aves ISM1 35
  • 74.74 (n)
  • 82.81 (a)
ISM1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISM1 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Ism 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487287 35
  • 71.93 (n)
  • 79.82 (a)
zebrafish
(Danio rerio)
Actinopterygii ism1 35
  • 67.77 (n)
  • 70.04 (a)
ism1 36
  • 69 (a)
OneToOne
Species with no ortholog for ISM1:
  • 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

Selected 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 MAF
rs181719 -- 13,262,963(+) AGACC(G/T)TGACA intron-variant
rs190279 -- 13,258,762(+) TGTTC(A/G)AAAGG intron-variant
rs243892 -- 13,230,740(-) tACAA(C/T)ACATT intron-variant
rs243893 -- 13,231,891(+) GAATG(C/T)GATGG intron-variant
rs243894 -- 13,247,519(+) AGGGG(G/T)GTGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv912684 CNV Loss 21882294
nsv518184 CNV Gain 19592680
nsv912685 CNV Gain 21882294
esv27679 CNV Loss 19812545
nsv912686 CNV Gain 21882294
esv29075 CNV Gain 19812545
esv2722201 CNV Deletion 23290073

Relevant External Links for ISM1 Gene

HapMap Linkage Disequilibrium report
ISM1

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

Disorders for ISM1 Gene

(2) University of Copenhagen DISEASES for ISM1 Gene

Relevant External Links for ISM1

Genetic Association Database (GAD)
ISM1
genes like me logo Genes that share disorders with ISM1: view

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

Publications for ISM1 Gene

  1. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  2. Isthmin is a novel secreted protein expressed as part of the Fgf-8 synexpression group in the Xenopus midbrain-hindbrain organizer. (PMID: 12128218) Pera E.M. … De Robertis E.M. (Mech. Dev. 2002) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) SimA^n-SA!nchez J. … Gasser T. (Nat. Genet. 2009) 3 48
  5. Isthmin exerts pro-survival and death-promoting effect on endothelial cells through alphavbeta5 integrin depending on its physical state. (PMID: 21544092) Zhang Y. … Ge R. (Cell Death Dis 2011) 3

Products for ISM1 Gene

Sources for ISM1 Gene

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