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Aliases for ISOC1 Gene

Aliases for ISOC1 Gene

  • Isochorismatase Domain Containing 1 2 3 5
  • Isochorismatase Domain-Containing Protein 1 3
  • CGI-111 3

External Ids for ISOC1 Gene

Previous GeneCards Identifiers for ISOC1 Gene

  • GC05P128459
  • GC05P123621
  • GC05P128430

Summaries for ISOC1 Gene

GeneCards Summary for ISOC1 Gene

ISOC1 (Isochorismatase Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is ISOC2.

Additional gene information for ISOC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISOC1 Gene

Genomics for ISOC1 Gene

GeneHancer (GH) Regulatory Elements for ISOC1 Gene

Promoters and enhancers for ISOC1 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
GH05I129093 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560.5 +0.2 165 2.4 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ISOC1 SLC27A6 MIR4633
GH05I129125 Enhancer 1 Ensembl ENCODE 11.9 +31.5 31468 1.3 FOXA2 PKNOX1 CLOCK SIN3A RAD21 RFX5 YY1 ZNF143 FOS RUNX3 ISOC1 LOC102723654 MIR4633
GH05I129098 Enhancer 0.6 Ensembl 10.7 +4.3 4251 0.8 TEAD4 MZF1 CEBPB CBFA2T3 EBF1 ZNF398 DPF2 TCF12 GATA3 PRDM6 MIR4633 ISOC1 SLC27A6 LOC102723654
GH05I129173 Enhancer 0.2 ENCODE 15.5 +79.9 79944 2 ISOC1 LOC102723654 LOC105379169
GH05I129099 Enhancer 0.4 Ensembl 4.9 +3.4 3352 0.2 FEZF1 HNF4A MLLT1 MIR4633 ISOC1 LOC102723654
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISOC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISOC1 gene promoter:

Genomic Locations for ISOC1 Gene

Genomic Locations for ISOC1 Gene
chr5:129,094,749-129,114,028
(GRCh38/hg38)
Size:
19,280 bases
Orientation:
Plus strand
chr5:128,430,442-128,449,721
(GRCh37/hg19)

Genomic View for ISOC1 Gene

Genes around ISOC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISOC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISOC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISOC1 Gene

Proteins for ISOC1 Gene

  • Protein details for ISOC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CN7-ISOC1_HUMAN
    Recommended name:
    Isochorismatase domain-containing protein 1
    Protein Accession:
    Q96CN7
    Secondary Accessions:
    • Q7Z770

    Protein attributes for ISOC1 Gene

    Size:
    298 amino acids
    Molecular mass:
    32237 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH08367.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH14105.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ISOC1 Gene

Post-translational modifications for ISOC1 Gene

No Post-translational modifications

Other Protein References for ISOC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISOC1 Gene

Domains & Families for ISOC1 Gene

Gene Families for ISOC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ISOC1 Gene

Suggested Antigen Peptide Sequences for ISOC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CN7

UniProtKB/Swiss-Prot:

ISOC1_HUMAN :
  • Belongs to the isochorismatase family.
Family:
  • Belongs to the isochorismatase family.
genes like me logo Genes that share domains with ISOC1: view

Function for ISOC1 Gene

Gene Ontology (GO) - Molecular Function for ISOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with ISOC1: view

Phenotypes for ISOC1 Gene

genes like me logo Genes that share phenotypes with ISOC1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISOC1 Gene

Localization for ISOC1 Gene

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 ISOC1 gene
Compartment Confidence
extracellular 5
peroxisome 4
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005777 peroxisome ISS 14561759
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with ISOC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ISOC1 Gene

Pathways & Interactions for ISOC1 Gene

SuperPathways for ISOC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ISOC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ISOC1: view

No data available for Pathways by source and SIGNOR curated interactions for ISOC1 Gene

Drugs & Compounds for ISOC1 Gene

No Compound Related Data Available

Transcripts for ISOC1 Gene

mRNA/cDNA for ISOC1 Gene

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

Unigene Clusters for ISOC1 Gene

Isochorismatase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISOC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for ISOC1 Gene

GeneLoc Exon Structure for
ISOC1
ECgene alternative splicing isoforms for
ISOC1

Expression for ISOC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISOC1 Gene

Protein differential expression in normal tissues from HIPED for ISOC1 Gene

This gene is overexpressed in Uterus (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ISOC1 Gene



Protein tissue co-expression partners for ISOC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ISOC1 Gene:

ISOC1

SOURCE GeneReport for Unigene cluster for ISOC1 Gene:

Hs.483296

Evidence on tissue expression from TISSUES for ISOC1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Eye(4.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with ISOC1: 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 ISOC1 Gene

Orthologs for ISOC1 Gene

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

Orthologs for ISOC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISOC1 33 34
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia ISOC1 33 34
  • 93.06 (n)
dog
(Canis familiaris)
Mammalia ISOC1 33 34
  • 91.28 (n)
oppossum
(Monodelphis domestica)
Mammalia ISOC1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Isoc1 33 16 34
  • 86.31 (n)
rat
(Rattus norvegicus)
Mammalia Isoc1 33
  • 84.96 (n)
chicken
(Gallus gallus)
Aves ISOC1 33 34
  • 83.27 (n)
lizard
(Anolis carolinensis)
Reptilia ISOC1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia isoc1 33
  • 77.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29962 33
zebrafish
(Danio rerio)
Actinopterygii isoc1 33 34
  • 71.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3663 33 34
  • 53 (n)
CG11333 34
  • 40 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002320 33
  • 50.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00166 33
  • 41.77 (n)
Species where no ortholog for ISOC1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ISOC1 Gene

ENSEMBL:
Gene Tree for ISOC1 (if available)
TreeFam:
Gene Tree for ISOC1 (if available)

Paralogs for ISOC1 Gene

Paralogs for ISOC1 Gene

(1) SIMAP similar genes for ISOC1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ISOC1: view

Variants for ISOC1 Gene

Sequence variations from dbSNP and Humsavar for ISOC1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000047959 -- 129,103,332(+) A/G intron_variant
rs1000287691 -- 129,103,620(+) T/A intron_variant
rs1000328820 -- 129,109,606(+) G/A intron_variant
rs1000364658 -- 129,097,615(+) A/G intron_variant
rs1000544292 -- 129,107,948(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ISOC1 Gene

Variant ID Type Subtype PubMed ID
nsv1015525 CNV loss 25217958
nsv599701 CNV gain 21841781
nsv830485 CNV gain 17160897

Variation tolerance for ISOC1 Gene

Residual Variation Intolerance Score: 15.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISOC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISOC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISOC1 Gene

Disorders for ISOC1 Gene

Additional Disease Information for ISOC1

No disorders were found for ISOC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISOC1 Gene

Publications for ISOC1 Gene

  1. Microarray study of gene expression in uterine leiomyoma. (PMID: 18566572) Litovkin KV … Zaporozhan VN (Experimental oncology 2008) 2 3 58
  2. 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 58
  3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58

Products for ISOC1 Gene

Sources for ISOC1 Gene

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