ISOC1 isochorismatase domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ISOC1provided by HGNC
Official Full Name: isochorismatase domain containing 1provided by HGNC
Primary source: HGNC:HGNC:24254
See related: Ensembl:ENSG00000066583 MIM:620805; AllianceGenome:HGNC:24254
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI-111
Summary: Predicted to be located in peroxisome. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in endometrium (RPKM 57.7), liver (RPKM 27.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (129094749..129114028)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (129597478..129632738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (128430442..128449721)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional Analysis of Immune Signature Genes in Th1* Memory Cells Links ISOC1 and Pyrimidine Metabolism to IFN-gamma and IL-17 Production.
Title: Functional Analysis of Immune Signature Genes in Th1* Memory Cells Links ISOC1 and Pyrimidine Metabolism to IFN-γ and IL-17 Production.
ISOC1 promotes the proliferation of gastric cancer cells by positively regulating CDK19.
Title: ISOC1 promotes the proliferation of gastric cancer cells by positively regulating CDK19.
Knockdown of ISOC1 inhibits the proliferation and migration and induces the apoptosis of colon cancer cells through the AKT/GSK-3beta pathway.
Title: Knockdown of ISOC1 inhibits the proliferation and migration and induces the apoptosis of colon cancer cells through the AKT/GSK-3β pathway.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19670 (e-PCR)
- UniSTS:17797

A001U39 (e-PCR)
- UniSTS:17798

SHGC-64018 (e-PCR)
- UniSTS:43510

SHGC-133073 (e-PCR)
- UniSTS:171001

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisome	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: isochorismatase domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016048.2 → NP_057132.2 isochorismatase domain-containing protein 1

See identical proteins and their annotated locations for NP_057132.2

Status: VALIDATED

Source sequence(s)

BC014105, BG715081

Consensus CDS

CCDS43357.1

UniProtKB/Swiss-Prot

Q7Z770, Q96CN7

Related

ENSP00000173527.5, ENST00000173527.6

Conserved Domains (1) summary

cd01012
Location:116 → 270

YcaC_related; YcaC related amidohydrolases; E.coli YcaC is an homooctameric hydrolase with unknown specificity. Despite its weak sequence similarity, it is structurally related to other amidohydrolases and shares conserved active site residues with them. ...