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HEG1 heart development protein with EGF like domains 1 [ Homo sapiens (human) ]

Gene ID: 57493, updated on 12-Oct-2019

Summary

Official Symbol
HEG1provided by HGNC
Official Full Name
heart development protein with EGF like domains 1provided by HGNC
Primary source
HGNC:HGNC:29227
See related
Ensembl:ENSG00000173706 MIM:614182
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
HEG; MST112; MSTP112
Expression
Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues See more
Orthologs

Genomic context

See HEG1 in Genome Data Viewer
Location:
3q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (124965710..125055997, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124684554..124774802, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 5 Neighboring gene enolase 1 pseudogene 3 Neighboring gene mucin 13, cell surface associated Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene RNA, 5S ribosomal pseudogene 137 Neighboring gene solute carrier family 12 member 8 Neighboring gene RNA, U6 small nuclear 230, pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1237, MGC72175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac atrium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction assembly IEA
Inferred from Electronic Annotation
more info
 
endothelial cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
lymph circulation IEA
Inferred from Electronic Annotation
more info
 
lymph vessel development IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Rho-dependent protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of membrane permeability IDA
Inferred from Direct Assay
more info
PubMed 
pericardium development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fibroblast growth factor production IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
protein localization to cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of body fluid levels IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
venous blood vessel morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
ventricular trabecula myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein HEG homolog 1
Names
heart of glass

NCBI Reference Sequences (RefSeq)

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_020733.2NP_065784.1  protein HEG homolog 1 precursor

    See identical proteins and their annotated locations for NP_065784.1

    Status: VALIDATED

    Source sequence(s)
    AB033063, AC026342, AC092983, AC117488, DR003209
    Consensus CDS
    CCDS46898.1
    UniProtKB/Swiss-Prot
    Q9ULI3
    Related
    ENSP00000311502.3, ENST00000311127.9
    Conserved Domains (3) summary
    smart00179
    Location:10251056
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:9861022
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam17061
    Location:724876
    PARM; PARM

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    124965710..125055997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247666.1XP_005247723.1  protein HEG homolog 1 isoform X1

    Conserved Domains (3) summary
    smart00179
    Location:11251156
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:10861122
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam17061
    Location:824976
    PARM; PARM
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