ISM1 isthmin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ISM1provided by HGNC
Official Full Name: isthmin 1provided by HGNC
Primary source: HGNC:HGNC:16213
See related: Ensembl:ENSG00000101230 MIM:615793; AllianceGenome:HGNC:16213
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: ISM; Isthmin; C20orf82; bA149I18.1; dJ1077I2.1
Summary: Predicted to be involved in negative regulation of angiogenesis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in thyroid (RPKM 10.3), placenta (RPKM 5.3) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p12.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (13221274..13326723)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (13264581..13370088)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (13201921..13281298)

Chromosome 20 - NC_000020.11 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 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?

Serum isthmin-1 is a potential biomarker for metabolic dysfunction associated fatty liver disease in patients with metabolic syndrome and type 2 diabetes mellitus.
Title: Serum isthmin-1 is a potential biomarker for metabolic dysfunction associated fatty liver disease in patients with metabolic syndrome and type 2 diabetes mellitus.
Isthmin: A multifunctional secretion protein.
Title: Isthmin: A multifunctional secretion protein.
Investigation of serum isthmin 1 concentration in pregnant women diagnosed with gestational diabetes mellitus; a case-control study.
Title: Investigation of serum isthmin 1 concentration in pregnant women diagnosed with gestational diabetes mellitus; a case-control study.
The Angiogenesis Inhibitor Isthmin-1 (ISM1) Is Overexpressed in Experimental Models of Glomerulopathy and Impairs the Viability of Podocytes.
Title: The Angiogenesis Inhibitor Isthmin-1 (ISM1) Is Overexpressed in Experimental Models of Glomerulopathy and Impairs the Viability of Podocytes.
Serum isthmin-1 levels are positively and independently correlated with albuminuria in patients with type 2 diabetes mellitus.
Title: Serum isthmin-1 levels are positively and independently correlated with albuminuria in patients with type 2 diabetes mellitus.
Isthmin 1 is Expressed by Progenitor-Like Cells in the Lung: Phenotypical Analysis of Isthmin 1(+) Hematopoietic Stem-Like Cells in Homeostasis and during Infection.
Title: Isthmin 1 is Expressed by Progenitor-Like Cells in the Lung: Phenotypical Analysis of Isthmin 1(+) Hematopoietic Stem-Like Cells in Homeostasis and during Infection.
Regulation of N-glycosylation and secretion of Isthmin-1 by its C-mannosylation.
Title: Regulation of N-glycosylation and secretion of Isthmin-1 by its C-mannosylation.
we identify ISM1 as an extracellular antagonist of NODAL and reveal a negative regulatory mechanism that provides greater plasticity for the fine-tuning of NODAL signaling.
Title: ISM1 regulates NODAL signaling and asymmetric organ morphogenesis during development.
MiR-1307-3p inhibited activation of Wnt3a/beta-catenin signaling through targeting downregulation of ISM1.
Title: miR-1307-3p overexpression inhibits cell proliferation and promotes cell apoptosis by targeting ISM1 in colon cancer.
Our study demonstrates a successful pipeline from CNV identification of a candidate gene to functional validation in a vertebrate model system, and reveals Isthmin 1 as both a new human clefting locus as well as a key craniofacial patterning gene.
Title: Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

EBI GWAS Catalog

Description
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals genetic risk underlying Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of isthmin 1, angiogenesis inhibitor (ISM1) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-15703 (e-PCR)
- UniSTS:59174

SHGC-148053 (e-PCR)
- UniSTS:176170

Z94575 (e-PCR)
- UniSTS:73607

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in negative regulation of angiogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: isthmin-1

Names: isthmin 1 homolog; isthmin 1, angiogenesis inhibitor

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.