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    NRG1 neuregulin 1 [ Homo sapiens (human) ]

    Gene ID: 3084, updated on 5-Jul-2015
    Official Symbol
    NRG1provided by HGNC
    Official Full Name
    neuregulin 1provided by HGNC
    Primary source
    HGNC:HGNC:7997
    See related
    Ensembl:ENSG00000157168; HPRD:00802; MIM:142445; Vega:OTTHUMG00000163918
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGF; HGL; HRG; NDF; ARIA; GGF2; HRG1; HRGA; SMDF; MST131; MSTP131; NRG1-IT2
    Summary
    The protein encoded by this gene is a membrane glycoprotein that that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Jun 2014]
    Orthologs
    See NRG1 in Epigenomics, MapViewer
    Location:
    8p12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (31639304..32767957)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (31496820..32622558)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379360 Neighboring gene RNA, 5S ribosomal pseudogene 261 Neighboring gene NRG1 intronic transcript 1 Neighboring gene RNA, 5S ribosomal pseudogene 262 Neighboring gene uncharacterized LOC105379361 Neighboring gene NRG1 intronic transcript 3 Neighboring gene uncharacterized LOC105379362 Neighboring gene nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1 Neighboring gene MT-ND1 pseudogene 6

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Schizophrenia 6
    MedGen: C1864275 OMIM: 603013 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    NHGRI GWA Catalog
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    NHGRI GWA Catalog
    Discovery of common variants associated with low TSH levels and thyroid cancer risk.
    NHGRI GWA Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    NHGRI GWA Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
    NHGRI GWA Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    NHGRI GWA Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    NHGRI GWA Catalog
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      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
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    • GRB7 events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
      GRB7 events in ERBB2 signaling, organism-specific biosystemHeterodimers of ERBB2 and ERBB3 are able to bind GRB7 (Fiddes et al. 1998) through phosphorylated tyrosine residues in the C-tail of ERBB3 (Y1199 and Y1262), but the exact downstream signaling of thi...
    • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 1 network, organism-specific biosystem
      Glypican 1 network
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      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
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      Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
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      PI-3K cascade:FGFR1, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
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      PI-3K cascade:FGFR2, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
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      PI-3K cascade:FGFR3, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ErbB-2 class receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    ErbB-3 class receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ErbB-3 class receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cytokine activity TAS
    Traceable Author Statement
    more info
    PubMed 
    growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor tyrosine kinase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    transcription cofactor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activator activity IC
    Inferred by Curator
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase activator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ERBB signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    activation of transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of transmembrane receptor protein tyrosine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    axon ensheathment IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac conduction system development IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac muscle cell myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell communication TAS
    Traceable Author Statement
    more info
    PubMed 
    cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular protein complex disassembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    embryo development IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    fibroblast growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    glial cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of cardiac muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neural crest cell development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    neurotransmitter receptor metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    neurotrophin TRK receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    peripheral nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of calcineurin-NFAT signaling cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cardiac muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cardiac muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of striated muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein homodimerization activity TAS
    Traceable Author Statement
    more info
    PubMed 
    synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ventricular cardiac muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ventricular trabecula myocardium morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    pro-neuregulin-1, membrane-bound isoform
    Names
    glial growth factor
    heregulin, alpha (45kD, ERBB2 p185-activator)
    neu differentiation factor
    pro-NRG1
    sensory and motor neuron derived factor

    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.

    Genomic

    1. NG_012005.1 RefSeqGene

      Range
      4553..1130291
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159995.1NP_001153467.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1c) has an alternate 5' exon and lacks an internal exon, compared to variant HRG-beta1. The resulting isoform (HRG-beta1c, also known as type IV fetal C beta 1a and fetal b IV-beta 1a) is shorter, and has a different N-terminus and lacks an internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      CN603654, DA805080, EF517297, M94166
      UniProtKB/TrEMBL
      A6MW56
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (4) summary
      pfam02158
      Location:202597
      Neuregulin; Neuregulin family
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      cd00054
      Location:152184
      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 ...
    2. NM_001159996.1NP_001153468.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43c

      See identical proteins and their annotated locations for NP_001153468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43c, also known as ndf43) lacks multiple 5' exons, but has an alternate 5' exon, an alternate internal segment and an additional exon in the 3' region, compared to variant HRG-beta1. The resulting isoform (ndf43c) is much shorter, and has alternate N- and C-termini and a different internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      AK293240, BC144446, DA805080, DC425692
      Consensus CDS
      CCDS75727.1
      UniProtKB/TrEMBL
      B7Z1D7
      UniProtKB/TrEMBL
      F6RJN6
      Related
      ENSP00000439276, ENST00000539990
      Conserved Domains (2) summary
      pfam02158
      Location:81270
      Neuregulin; Neuregulin family
      cd00054
      Location:3668
      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 ...
    3. NM_001159999.1NP_001153471.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1b) has an alternate 5' exon, compared to variant HRG-beta1. The resulting isoform (HRG-beta1b, also known as type IV fetal B beta 1a) is shorter, and has a different N-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      CN603652, DA805080, EF517296, M94165, U02328
      UniProtKB/TrEMBL
      A6MW55
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (4) summary
      pfam02158
      Location:219614
      Neuregulin; Neuregulin family
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      cd00054
      Location:169201
      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 ...
    4. NM_001160001.1NP_001153473.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1d) has an alternate 5' exon and lacks two internal exons, compared to variant HRG-beta1. The resulting isoform (HRG-beta1d, also known as IV-beta 1a and type IV fetal A beta 1a) is shorter, and has a different N-terminus and lacks an internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      CN603654, DA805080, EF372273, M94165
      Consensus CDS
      CCDS55218.1
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (4) summary
      pfam02158
      Location:185580
      Neuregulin; Neuregulin family
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      cd00054
      Location:135167
      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 ...
    5. NM_001160002.1NP_001153474.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma2) lacks an internal exon and multiple 3' exons, and has an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma2, also known as gamma protein isoform 1) lacks an internal segment and is C-terminal truncated, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, EU363508
      UniProtKB/TrEMBL
      B0FYA7
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    6. NM_001160004.1NP_001153476.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43b

      See identical proteins and their annotated locations for NP_001153476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43b, also called ndf43-beta2) lacks an internal exon, but has an additional exon in the 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43b) is shorter, and lacks an internal segment and has a different C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, BC144446, DA805080, EU363510
      UniProtKB/TrEMBL
      B0FYA9
      Conserved Domains (4) summary
      pfam02158
      Location:232421
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      PHA03099
      Location:182271
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
    7. NM_001160005.1NP_001153477.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3b

      See identical proteins and their annotated locations for NP_001153477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta3b) lacks two internal exons and multiple 3' exons, and has an alternate 3' sequence including the coding region and UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta3b, also known as HRG-beta 3 protein isoform) is much shorter, and lacks an internal segment and has a different C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, EU359055, M94168
      UniProtKB/TrEMBL
      B0FWZ3
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    8. NM_001160007.1NP_001153479.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma3) lacks two internal exons and multiple 3' exons, and has an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma3, also known as gamma protein isoform 2) lacks an internal segment and is C-terminal truncated, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, EU363509
      UniProtKB/TrEMBL
      B0FYA8
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    9. NM_001160008.1NP_001153480.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta2b) lacks an internal exon and the 3' exon, but has an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta2b) lacks an internal segment and is C-terminal truncated, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK298132, BC006492, BQ018711
      Consensus CDS
      CCDS55219.1
      UniProtKB/Swiss-Prot
      Q02297
      UniProtKB/TrEMBL
      Q6PK61
      Related
      ENSP00000430120, OTTHUMP00000225419, ENST00000523079, OTTHUMT00000376466
      Conserved Domains (4) summary
      pfam02158
      Location:232420
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      PHA03099
      Location:182271
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
    10. NM_004495.3NP_004486.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma

      See identical proteins and their annotated locations for NP_004486.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma) lacks multiple 3' exons and has an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma) is C-terminal truncated, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, BC144446
      UniProtKB/TrEMBL
      Q7RTW5
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    11. NM_013956.3NP_039250.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1

      See identical proteins and their annotated locations for NP_039250.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1) is the longest transcript and encodes the longest isoform (HRG-beta1).
      Source sequence(s)
      AK097005, AK298132, BC006492, BC144446, DA805080, M94166
      Consensus CDS
      CCDS6083.1
      UniProtKB/Swiss-Prot
      Q02297
      UniProtKB/TrEMBL
      Q6PK61
      Conserved Domains (4) summary
      pfam02158
      Location:240635
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cd00054
      Location:190222
      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 ...
    12. NM_013957.3NP_039251.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2

      See identical proteins and their annotated locations for NP_039251.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta2) lacks an internal exon in the 3' coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta2) has identical N- and C-termini, but lacks an internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK290730, AK298132, BC006492, DA805080, M94165
      Consensus CDS
      CCDS6084.1
      UniProtKB/Swiss-Prot
      Q02297
      UniProtKB/TrEMBL
      Q6PK61
      UniProtKB/TrEMBL
      Q7RTW3
      Conserved Domains (4) summary
      pfam02158
      Location:232627
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cd00054
      Location:190222
      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 ...
    13. NM_013958.3NP_039252.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3

      See identical proteins and their annotated locations for NP_039252.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta3, also known as GGF or GGFHFB1) lacks multiple 3' exons, and has an alternate 3' sequence including the coding region and UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta3) is much shorter, and has a different C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK298132, M94165, M94168
      UniProtKB/TrEMBL
      A0A024QY88
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    14. NM_013959.3NP_039253.1  pro-neuregulin-1, membrane-bound isoform isoform SMDF

      See identical proteins and their annotated locations for NP_039253.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SMDF) is expressed mainly in the nervous system. It lacks multiple 5' and 3' exons, but has an alternate 5' exon and an alternate 3' sequence including the coding region and UTR, compared to variant HRG-beta1. The resulting isoform (SMDF) is much shorter, and has different N- and C-termini, compared to isoform HRG-beta1.
      Source sequence(s)
      AK289927, M94168
      Consensus CDS
      CCDS6087.1
      UniProtKB/Swiss-Prot
      Q02297
      Conserved Domains (1) summary
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
    15. NM_013960.3NP_039254.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43

      See identical proteins and their annotated locations for NP_039254.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43) has an alternate internal segment and an additional exon in the 3' region, compared to variant HRG-beta1. The resulting isoform (ndf43) is shorter, and has a different internal segment and C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK298132, BC006492, DA805080, M94165, U02326
      Consensus CDS
      CCDS6086.1
      UniProtKB/Swiss-Prot
      Q02297
      UniProtKB/TrEMBL
      Q6PK61
      Conserved Domains (4) summary
      pfam02158
      Location:235424
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cd00054
      Location:190222
      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 ...
    16. NM_013962.2NP_039256.2  pro-neuregulin-1, membrane-bound isoform isoform GGF2 precursor

      See identical proteins and their annotated locations for NP_039256.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GGF2, also called GGFHBS5) is expressed in the nervous system and functions as a neuronal signal that promotes the proliferation and survival of the oligodendrocyte and the myelinating cell. This variant lacks two internal exons and multiple 3' exons, and has an alternate 5' exon and an alternate 3' sequence including the coding region and UTR, compared to variant HRG-beta1. The resulting isoform (GGF2) is shorter, and has different N- and C- termini as well as lacks an internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      L12260, M94165, M94168
      Consensus CDS
      CCDS47836.1
      UniProtKB/Swiss-Prot
      Q02297
      Related
      ENSP00000434640, OTTHUMP00000230603, ENST00000520407, OTTHUMT00000376412
      Conserved Domains (3) summary
      cd05895
      Location:268342
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      PHA02887
      Location:362405
      PHA02887; EGF-like protein; Provisional
      smart00410
      Location:258344
      IG_like; Immunoglobulin like
    17. NM_013964.3NP_039258.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-alpha

      See identical proteins and their annotated locations for NP_039258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-alpha, also called erbB2) has an alternate internal segment, compared to variant HRG-beta1. The resulting isoform (HRG-alpha) is shorter, and has identical N- and C-termini and a different internal segment, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK298132, BC006492, DA805080, M94165
      Consensus CDS
      CCDS6085.1
      UniProtKB/Swiss-Prot
      Q02297
      UniProtKB/TrEMBL
      Q6PK61
      Conserved Domains (4) summary
      pfam02158
      Location:235630
      Neuregulin; Neuregulin family
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cd00054
      Location:190222
      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: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

      Range
      31639304..32767957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544512.1XP_011542814.1  

      Related
      ENSP00000349275, OTTHUMP00000225420, ENST00000356819, OTTHUMT00000376467
      Conserved Domains (4) summary
      pfam02158
      Location:247642
      Neuregulin; Neuregulin family
      cd05895
      Location:60134
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:50136
      IG_like; Immunoglobulin like
      cd00054
      Location:197229
      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 ...
    2. XM_011544514.1XP_011542816.1  

      Conserved Domains (2) summary
      pfam02158
      Location:290479
      Neuregulin; Neuregulin family
      cd00054
      Location:245277
      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 ...
    3. XM_005273486.2XP_005273543.1  

      Conserved Domains (2) summary
      pfam02158
      Location:290685
      Neuregulin; Neuregulin family
      cd00054
      Location:245277
      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 ...
    4. XM_005273485.2XP_005273542.1  

      Conserved Domains (2) summary
      pfam02158
      Location:295690
      Neuregulin; Neuregulin family
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
    5. XM_005273487.2XP_005273544.1  

      Conserved Domains (2) summary
      pfam02158
      Location:287682
      Neuregulin; Neuregulin family
      PHA03099
      Location:237326
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    6. XM_011544513.1XP_011542815.1  

      Conserved Domains (2) summary
      pfam02158
      Location:295484
      Neuregulin; Neuregulin family
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
    7. XM_006716335.2XP_006716398.1  

      Conserved Domains (1) summary
      pfam02158
      Location:15410
      Neuregulin; Neuregulin family

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      31698276..32824231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)