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ISM1 isthmin 1 [ Homo sapiens (human) ]

Gene ID: 140862, updated on 5-Sep-2021

Summary

Official Symbol
ISM1provided by HGNC
Official Full Name
isthmin 1provided by HGNC
Primary source
HGNC:HGNC:16213
See related
Ensembl:ENSG00000101230 MIM:615793
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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13221274..13326734)
105.20201022 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 uncharacterized LOC105372539 Neighboring gene Sharpr-MPRA regulatory region 1935 Neighboring gene ISM1 antisense RNA 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
GeneReviews: Not available
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
GeneReviews: Not available

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
    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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    13221274..13326734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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