1. Gene
  2. ISOC1 - isochorismatase domain containing 1 Gene

ISOC1 - isochorismatase domain containing 1 Gene

Homo sapiens

Also known as CGI-111

Gene ID: 51015 | Gene type: protein coding

About ISOC1

This gene has 2 transcripts (splice variants), 158 orthologues and 1 paralogue. Ubiquitous expression in endometrium (RPKM 57.7), liver (RPKM 27.5) and 24 other tissues.

Summary

Predicted to be located in peroxisome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ISOC1 Products(1)

mRNA Protein Name
NM_016048.2 NP_057132.2 isochorismatase domain-containing protein 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ISOC1 Protein Structure

Isochorismatase

Isochorismatase: Isochorismatase family (115 - 263)

  • 0
  • 100
  • 200
  • 298 a.a.
Protein Preferred Names Protein Names

isochorismatase domain-containing protein 1

Related Diseases

Diseases Alias
Macular Degeneration, Age-Related, 2

Age Related Macular Degeneration 2

ARMD2

Macular Degeneration, Senile

Maculopathy, Age-Related, 2

Macular Degeneration, Age-Related, 2, Susceptibility To

Macular Degeneration, Age-Related, Type 2

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ISOC1 VGNC VGNC:42112
Macaca mulatta ISOC1 VGNC VGNC:110457
Mus musculus ISOC1 MGD MGI:1913557
Rattus norvegicus ISOC1 RGD RGD:1307632
Bos taurus ISOC1 VGNC VGNC:30301
Felis catus ISOC1 VGNC VGNC:62978