HEG1 - heart development protein with EGF like domains 1 Gene

Also Known as HEG; MST112; MSTP112

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57493

About HEG1

Cytogenetic location: 3q21.2 Genomic coordinates (GRCh38): 3:124,965,710-125,055,997 (from NCBI)

This gene has 5 transcripts (splice variants) and 203 orthologues. Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues.

Summary

Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]

HEG1 Products (1)

mRNA Protein Name
NM_020733.2 NP_065784.1 protein HEG homolog 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23007647 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of Rho protein signal transduction IMP
IMP: Inferred from mutant phenotype
26780829 GOA
involved in negative regulation of Rho-dependent protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
26780829 GOA
involved in negative regulation of membrane permeability IDA
IDA: Inferred from direct assay
26780829 GOA
involved in protein localization to cell junction IMP
IMP: Inferred from mutant phenotype
26780829 GOA
Cellular Component GO Annotation Evidence References Source
located in cell-cell junction IDA
IDA: Inferred from direct assay
26780829 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEG1 Protein Structure

EGF

EGF: EGF-like domain (989 - 1020)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1025 - 1056)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1381 a.a.
Protein Preferred Names Protein Names

protein HEG homolog 1

  • heart of glass

HEG1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HEG1 Q9ULI3 KRIT1 Homo sapiens O00522
X-Ray Diffraction
23007647
Intra
HEG1 Q9ULI3 KRIT1 Homo sapiens O00522
Affinity Chrom
23007647
Intra
HEG1 Q9ULI3 KRIT1 Homo sapiens O00522
Pull Down
23007647
Intra
HEG1 Q9ULI3 KRIT1 Homo sapiens O00522
ITC
23007647
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cerebral Cavernous Malformations

  • Cerebral Cavernous Malformation

  • Cavernous Malformations Of Cns And Retina

  • Cerebral Cavernous Malformation 1

  • Cavernous Angiomatous Malformations

  • Cerebral Capillary Malformations

  • CCM

  • Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

  • Familial Cavernous Angioma

  • Cavernous Angioma

  • Familial Cerebral Cavernous Malformation

  • Cerebral Cavernous Malformations 1

  • Cavernous Angioma, Familial

  • Cam

  • Cerebral Cavernous Malformations-1

  • Cavernoma

  • Central Nervous System Cavernous Hemangioma

  • Cerebral Cavernous Hemangioma

  • Familial Cavernous Hemangioma

  • Familial Cavernous Malformation

  • Familial Cerebral Cavernous Angioma

  • Intracerebral Cavernous Hemangioma

  • CCM1

  • Cavernous Hemangioma Of The Brain

  • Cerebral Cavernoma

  • Cerebral Cavernous Malformations, Type 1

  • Hemangioma, Cavernous, Central Nervous System

  • Hemangioma, Cavernous

  • Angioma, Cavernous
Lymphohistiocytoid Mesothelioma
Cerebrocostomandibular Syndrome

  • Cerebro-Costo-Mandibular Syndrome

  • CCMS

  • Rib Gap Defects With Micrognathia

  • Ccm Syndrome
Hemangioma Of Liver

  • Hepatic Hemangioma

  • Angioma Of Liver

  • Hepatic Angioma
Hemopericardium

  • Haemopericardium

  • Pericardial Effusion

  • Haematopericardium

  • Pneumohemopericardium

  • Pericardium Haemorrhage

  • Haemorrhagic Pericarditis
Niemann-Pick Disease, Type C1

  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C
Sarcomatoid Mesothelioma

  • Malignant Fibrous Mesothelioma

  • Spindled Mesothelioma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06113 HEG1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus HEG1 MGD MGI:1924696
Rattus norvegicus HEG1 RGD RGD:1564641
Bos taurus HEG1 VGNC VGNC:29803
Macaca mulatta HEG1 VGNC VGNC:84172
Canis familiaris HEG1 VGNC VGNC:41647
Felis catus HEG1 VGNC VGNC:62788
Others HEG1 NCBI