Heg1 heart development protein with EGF-like domains 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Heg1provided by MGI
Official Full Name: heart development protein with EGF-like domains 1provided by MGI
Primary source: MGI:MGI:1924696
See related: Ensembl:ENSMUSG00000075254 AllianceGenome:MGI:1924696
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm629; 4632417D23Rik; 5530401I02Rik; 9530025L16Rik
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including circulatory system development; endothelial cell morphogenesis; and lymph circulation. Located in cell-cell junction and external side of plasma membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system. Orthologous to human HEG1 (heart development protein with EGF like domains 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in lung adult (RPKM 43.5), ovary adult (RPKM 33.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B3; 16 24.17 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (33504754..33591946)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (33684384..33771576)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells.
Title: HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells.
Defects in the hearts of zebrafish lacking heg or ccm2, in the aortas of early mouse embryos lacking CCM2 and in the lymphatic vessels of neonatal mice lacking HEG1 were associated with abnormal endothelial cell junctions like those observed in human CCMs
Title: Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16Mit10 (e-PCR), detects polymorphism
- UniSTS:127726

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardiac atrium morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cardiac atrium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell-cell junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endothelial cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endothelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of fibroblast growth factor production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph circulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymph vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Rho protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of membrane permeability	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of membrane permeability	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within pericardium development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within pericardium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of fibroblast growth factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to cell junction	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cell junction	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of body fluid levels	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasculature development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vasculogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within venous blood vessel morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein HEG homolog 1

Names: HEG homolog 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_175256.5 → NP_780465.4 protein HEG homolog 1 precursor

Status: VALIDATED

Source sequence(s)

BB639887, BC076596, BE862445

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

UniProtKB/TrEMBL

E9Q440

Related

ENSMUSP00000123686.2, ENSMUST00000152782.8

Conserved Domains (2) summary

smart00179
Location:726 → 757

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:687 → 723

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

33504754..33591946

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006522716.3 → XP_006522779.1 protein HEG homolog 1 isoform X2

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

UniProtKB/TrEMBL

A0A338P6D4

Related

ENSMUSP00000155944.2, ENSMUST00000232568.2

Conserved Domains (3) summary

smart00179
Location:957 → 988

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:550 → 917

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:918 → 954

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 ...
XM_006522717.3 → XP_006522780.1 protein HEG homolog 1 isoform X3

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

Conserved Domains (3) summary

smart00179
Location:1054 → 1085

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:647 → 1014

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:1015 → 1051

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 ...
XM_006522715.4 → XP_006522778.1 protein HEG homolog 1 isoform X1

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

Related

ENSMUSP00000119790.2, ENSMUST00000126532.2

Conserved Domains (3) summary

smart00179
Location:1054 → 1085

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:647 → 1014

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:1015 → 1051

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 ...
XM_006522718.3 → XP_006522781.1 protein HEG homolog 1 isoform X5

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

Conserved Domains (3) summary

smart00179
Location:823 → 854

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:416 → 783

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:784 → 820

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 ...
XM_036160178.1 → XP_036016071.1 protein HEG homolog 1 isoform X4

UniProtKB/Swiss-Prot

E9Q7X6, Q3TR26, Q6GQS6, Q8CED0

Conserved Domains (3) summary

smart00179
Location:857 → 888

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:450 → 817

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:818 → 854

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 ...
XM_017317159.2 → XP_017172648.1 protein HEG homolog 1 isoform X6

UniProtKB/TrEMBL

Q6DFX1

Conserved Domains (3) summary

smart00179
Location:539 → 570

EGF_CA; Calcium-binding EGF-like domain

PHA03247
Location:132 → 499

PHA03247; large tegument protein UL36; Provisional

cd00054
Location:500 → 536

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 ...

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172934.4: Suppressed sequence

Description

NM_172934.4: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.