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ISM1 isthmin 1 [ Homo sapiens (human) ]

Gene ID: 140862, updated on 2-Oct-2022

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, Apr 2022]
Expression
Biased expression in thyroid (RPKM 10.3), placenta (RPKM 5.3) and 12 other tissues See more
Orthologs
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Genomic context

See ISM1 in Genome Data Viewer
Location:
20p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13221274..13326723)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13264581..13343996)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13201921..13281298)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1722 Neighboring gene long intergenic non-protein coding RNA 1723 Neighboring gene serine palmitoyltransferase long chain base subunit 3 Neighboring gene centrosomal AT-AC splicing factor pseudogene Neighboring gene taspase 1 Neighboring gene Sharpr-MPRA regulatory region 1935 Neighboring gene ISM1 antisense RNA 1 Neighboring gene uncharacterized LOC124904872 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 2

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
EBI GWAS Catalog

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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.

mRNA and Protein(s)

  1. NM_080826.2NP_543016.1  isthmin-1 precursor

    See identical proteins and their annotated locations for NP_543016.1

    Status: VALIDATED

    Source sequence(s)
    AL050320, AL133463, BC017997, BQ771595, CR982468, DB169194, DB202450
    Consensus CDS
    CCDS46579.1
    UniProtKB/Swiss-Prot
    B1AKI9, Q8WVH9
    Related
    ENSP00000262487.3, ENST00000262487.5
    Conserved Domains (2) summary
    smart00723
    Location:289452
    AMOP; Adhesion-associated domain present in MUC4 and other proteins
    smart00209
    Location:221262
    TSP1; Thrombospondin type 1 repeats

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    13221274..13326723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027680.2XP_016883169.1  isthmin-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    13264581..13343996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)