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NRG1 neuregulin 1 [ Homo sapiens (human) ]

Gene ID: 3084, updated on 10-Dec-2024

Summary

Official Symbol
NRG1provided by HGNC
Official Full Name
neuregulin 1provided by HGNC
Primary source
HGNC:HGNC:7997
See related
Ensembl:ENSG00000157168 MIM:142445; AllianceGenome:HGNC:7997
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 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, Apr 2016]
Expression
Broad expression in thyroid (RPKM 1.5), urinary bladder (RPKM 1.0) and 19 other tissues See more
Orthologs
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Genomic context

See NRG1 in Genome Data Viewer
Location:
8p12
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (31639245..32774046)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31920455..33055399)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (31496761..32631564)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379360 Neighboring gene RNA, 5S ribosomal pseudogene 261 Neighboring gene Sharpr-MPRA regulatory region 7305 Neighboring gene NRG1 intronic transcript 1 Neighboring gene RNA, 5S ribosomal pseudogene 262 Neighboring gene RNA, 5S ribosomal pseudogene 263 Neighboring gene Sharpr-MPRA regulatory region 6165 Neighboring gene NANOG hESC enhancer GRCh37_chr8:32265698-32266280 Neighboring gene uncharacterized LOC105379361 Neighboring gene NRG1 intronic transcript 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:32490269-32491468 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:32500376-32501575 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:32504369-32504970 Neighboring gene uncharacterized LOC128092250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32579026-32579596 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32579597-32580167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:32617179-32618378 Neighboring gene uncharacterized LOC105379362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27217 Neighboring gene RNA, U6 small nuclear 663, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32858695-32859305 Neighboring gene MT-ND1 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
Schizophrenia 6
MedGen: C1864275 OMIM: 603013 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
EBI GWAS Catalog
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
EBI GWAS 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.
EBI GWAS Catalog
Discovery of common variants associated with low TSH levels and thyroid cancer risk.
EBI GWAS Catalog
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS Catalog
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
EBI GWAS Catalog
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
EBI GWAS Catalog
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ErbB-3 class receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ErbB-3 class receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables cytokine activity TAS
Traceable Author Statement
more info
PubMed 
enables growth factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
enables integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein tyrosine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
PubMed 
enables receptor tyrosine kinase binding NAS
Non-traceable Author Statement
more info
PubMed 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity IC
Inferred by Curator
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in ERBB signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ERBB2-ERBB3 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ERBB2-ERBB3 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB2-ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB3 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB4 signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB4-ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of protein kinase B activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in activation of transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cardiac muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac muscle cell myoblast differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell communication TAS
Traceable Author Statement
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell surface receptor protein tyrosine kinase signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endocardial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mammary gland development TAS
Traceable Author Statement
more info
PubMed 
involved_in negative chemotaxis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cardiac muscle cell apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in neural crest cell development TAS
Traceable Author Statement
more info
PubMed 
involved_in peripheral nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cardiac muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of peptidyl-tyrosine autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of striated muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sequestering of metal ion EXP
Inferred from Experiment
more info
PubMed 
involved_in ventricular cardiac muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ventricular trabecula myocardium morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in wound healing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in wound healing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pro-neuregulin-1, membrane-bound isoform
Names
NRG1 class VII isoform alpha 2a
NRG1 class VII isoform alpha 2b
NRG1 class VII isoform alpha beta 2a
NRG1 class VII isoform alpha beta 3
NRG1 class VII isoform beta 2a
NRG1 class VII isoform beta 3
acetylcholine receptor-inducing activity
glial growth factor 2
heregulin, alpha (45kD, ERBB2 p185-activator)
neu differentiation factor
pro-NRG1
sensory and motor neuron derived factor

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_012005.3 RefSeqGene

    Range
    914068..1139803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001159995.3NP_001153467.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-beta1c), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1c, also known as type IV fetal C beta 1a or fetal b IV-beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, CA429204, DA805080, EF517297, GQ983557, M94166
    Consensus CDS
    CCDS94272.1
    UniProtKB/TrEMBL
    A0A494C1F8, E3SFM9
    Related
    ENSP00000499008.1, ENST00000652698.1
    Conserved Domains (4) summary
    cd05895
    Location:32106
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:22108
    IG_like; Immunoglobulin like
    pfam00008
    Location:152182
    EGF; EGF-like domain
    pfam02158
    Location:202595
    Neuregulin; Neuregulin family
  2. NM_001159996.3NP_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), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon, and it also lacks two in-frame exons in the central coding region and includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43c, also known as ndf43) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK293240, BC144446, CA429204, DA805080, DC425692
    Consensus CDS
    CCDS75727.1
    UniProtKB/TrEMBL
    B7Z1D7, E5RHP6
    Related
    ENSP00000430862.2, ENST00000522402.6
    Conserved Domains (3) summary
    PHA03099
    Location:28120
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    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 ...
    pfam02158
    Location:113270
    Neuregulin; Neuregulin family
  3. NM_001159999.3NP_001153471.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-beta1b), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1b, also known as type IV fetal B beta 1a) has a distinct N-terminus and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, CA429204, CN603652, DA805080, EF517296, GQ983557, M94165, U02328
    Consensus CDS
    CCDS94271.1
    UniProtKB/TrEMBL
    A0A494C1F5, E3SFM9
    Related
    ENSP00000499045.1, ENST00000650866.1
    Conserved Domains (4) summary
    cd05895
    Location:32106
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:22108
    IG_like; Immunoglobulin like
    pfam00008
    Location:169199
    EGF; EGF-like domain
    pfam02158
    Location:219612
    Neuregulin; Neuregulin family
  4. NM_001160001.3NP_001153473.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-beta1d), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks two in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1d, also known as IV-beta 1a or type IV fetal A beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, CA429204, CN603654, DA805080, EF372273, GQ983557, M94165
    Consensus CDS
    CCDS55218.1
    UniProtKB/TrEMBL
    E3SFM9
    Related
    ENSP00000429582.1, ENST00000519301.6
    Conserved Domains (4) summary
    cd05895
    Location:32106
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:22108
    IG_like; Immunoglobulin like
    pfam00008
    Location:135165
    EGF; EGF-like domain
    pfam02158
    Location:185578
    Neuregulin; Neuregulin family
  5. NM_001160002.2NP_001153474.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-gamma2), which uses the type I promoter, lacks an internal in-frame exon and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma2, also known as gamma protein isoform 1) lacks an internal segment, has a distinct C-terminus, and is shorter than 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_001160004.3NP_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), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43b, also known as ndf43-beta2) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC083977, AC113209, BC144446, CA429204, DA805080, EU363510
    Consensus CDS
    CCDS94273.1
    UniProtKB/TrEMBL
    A0A494C0K4, B0FYA9
    Related
    ENSP00000498583.1, ENST00000650980.1
    Conserved Domains (3) summary
    cd05895
    Location:53127
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    pfam02158
    Location:232421
    Neuregulin; Neuregulin family
    cl28647
    Location:182271
    PHA02887; EGF-like protein; Provisional
  7. NM_001160005.2NP_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), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta3b, also known as HRG-beta 3 protein isoform) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC083977, EU359055, M94168
    Consensus CDS
    CCDS94275.1
    UniProtKB/TrEMBL
    A0A494C114, B0FWZ3
    Related
    ENSP00000498833.1, ENST00000650967.1
    Conserved Domains (2) summary
    smart00410
    Location:43129
    IG_like; Immunoglobulin like
    cl11960
    Location:53127
    Ig; Immunoglobulin domain
  8. NM_001160007.2NP_001153479.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-gamma3), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon that results in an early stop codon and 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 shorter at the C-terminus, compared to isoform HRG-beta1.
    Source sequence(s)
    AC083977, AC103675, EU363509
    UniProtKB/TrEMBL
    B0FYA8
    Conserved Domains (2) summary
    cd00096
    Location:3743
    Ig; putative Ig strand A [structural motif]
    cl11960
    Location:37129
    Ig; Immunoglobulin domain
  9. NM_001160008.2NP_001153480.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-beta2b), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and it also contains alternate 3' exon structure resulting an in early stop codon and alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta2b) lacks an internal segment and is shorter at the C-terminus, compared to isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK097005, AK298132, BC006492, BQ018711
    Consensus CDS
    CCDS55219.1
    UniProtKB/TrEMBL
    B0FYA9
    Related
    ENSP00000430120.1, ENST00000523079.5
    Conserved Domains (3) summary
    cd05895
    Location:53127
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    pfam02158
    Location:232420
    Neuregulin; Neuregulin family
    cl28647
    Location:182271
    PHA02887; EGF-like protein; Provisional
  10. NM_001322197.2NP_001309126.1  pro-neuregulin-1, membrane-bound isoform isoform VI-1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (VI-1), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (VI-1) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK293270, CA429204, CN603661
    UniProtKB/TrEMBL
    B7Z1E3, E3SFM9
    Conserved Domains (2) summary
    PHA03099
    Location:28117
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    pfam02158
    Location:78471
    Neuregulin; Neuregulin family
  11. NM_001322201.2NP_001309130.1  pro-neuregulin-1, membrane-bound isoform isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (fetal-a-IV-1), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks three internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant HRG-beta1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a.
    Source sequence(s)
    AC083977, AC103675, AC113209, CA429204, EF372275, GQ983557
    UniProtKB/TrEMBL
    A5YAK6, E3SFM9
    Conserved Domains (1) summary
    pfam02158
    Location:1370
    Neuregulin; Neuregulin family
  12. NM_001322202.2NP_001309131.1  pro-neuregulin-1, membrane-bound isoform isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (fetal-c-IV-2), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks four internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a.
    Source sequence(s)
    AC103675, AC113209, CA429204, EF372277, GQ983557
    UniProtKB/TrEMBL
    A5YAK8, E3SFM9
    Conserved Domains (1) summary
    pfam02158
    Location:1370
    Neuregulin; Neuregulin family
  13. NM_001322205.2NP_001309134.1  pro-neuregulin-1, membrane-bound isoform isoform NRG-III-beta1a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (NRG-III-beta1a), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (NRG-III-beta1a, also known as nARIAbeta1a or CRD-NRGbeta1a) has a distinct N-terminus and is longer than isoform HRG-beta1.
    Source sequence(s)
    AC103675, AC113209, AK289927, CA429204, EF517295
    Consensus CDS
    CCDS94277.1
    UniProtKB/TrEMBL
    A0A494C0Q4
    Related
    ENSP00000498646.1, ENST00000652592.1
    Conserved Domains (2) summary
    PHA02887
    Location:236279
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:295688
    Neuregulin; Neuregulin family
  14. NM_001322206.2NP_001309135.1  pro-neuregulin-1, membrane-bound isoform isoform III-2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (III-2), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (III-2) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK289927, BC144446, CA429204, M94166
    Consensus CDS
    CCDS94276.1
    UniProtKB/TrEMBL
    A0A494C0L9
    Related
    ENSP00000498590.1, ENST00000651333.2
    Conserved Domains (2) summary
    PHA02887
    Location:236279
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:295484
    Neuregulin; Neuregulin family
  15. NM_001322207.2NP_001309136.1  pro-neuregulin-1, membrane-bound isoform isoform III-3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (III-3), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (III-3) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK289927, AK298132, BC144446, BQ018711, M94166
    Consensus CDS
    CCDS94278.1
    UniProtKB/TrEMBL
    A0A494C1B5
    Related
    ENSP00000498946.1, ENST00000650819.1
    Conserved Domains (2) summary
    PHA02887
    Location:236279
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:295483
    Neuregulin; Neuregulin family
  16. NM_004495.4NP_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), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-gamma) is shorter at the C-terminus, compared to isoform HRG-beta1.
    Source sequence(s)
    AC083977, AC103675, BC144446
    UniProtKB/TrEMBL
    B5BU95, Q7RTW5
    Related
    ENST00000651807.1
    Conserved Domains (2) summary
    smart00410
    Location:43129
    IG_like; Immunoglobulin like
    cl11960
    Location:53127
    Ig; Immunoglobulin domain
  17. NM_013956.5NP_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), which uses the type I promoter, encodes isoform HRG-beta1 (also known as NDF-beta1a or HRG-beta1a).
    Source sequence(s)
    AC113209, AK097005, AK298132, BC006492, BC144446, CA429204, DA805080, M94166
    Consensus CDS
    CCDS6083.1
    UniProtKB/TrEMBL
    Q7RTW4
    Related
    ENSP00000287842.4, ENST00000287842.7
    Conserved Domains (4) summary
    cd05895
    Location:53127
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:43129
    IG_like; Immunoglobulin like
    pfam00008
    Location:190220
    EGF; EGF-like domain
    pfam02158
    Location:240633
    Neuregulin; Neuregulin family
  18. NM_013957.5NP_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), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, compared to variant HRG-beta1, resulting in an isoform (HRG-beta2) that is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK097005, AK290730, AK298132, BC006492, CA429204, DA805080, M94165
    Consensus CDS
    CCDS6084.1
    UniProtKB/TrEMBL
    Q7RTW3
    Related
    ENSP00000349275.6, ENST00000356819.7
    Conserved Domains (3) summary
    PHA03099
    Location:182271
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    smart00409
    Location:43129
    IG; Immunoglobulin
    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 ...
  19. NM_013958.4NP_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), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-beta3, also known as GGF or GGFHFB1) is shorter at the C-terminus, compared to isoform HRG-beta1.
    Source sequence(s)
    AK097005, AK298132, M94165, M94168
    Consensus CDS
    CCDS94274.1
    UniProtKB/TrEMBL
    A0A024QY88, Q6PK61
    Related
    ENSP00000498811.1, ENST00000650919.1
    Conserved Domains (3) summary
    smart00410
    Location:43129
    IG_like; Immunoglobulin like
    pfam00008
    Location:190220
    EGF; EGF-like domain
    cl11960
    Location:53127
    Ig; Immunoglobulin domain
  20. NM_013959.4NP_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), which uses the type III promoter, is expressed mainly in the nervous system. It lacks multiple 5' and 3' exons but has alternate 5' and 3' terminal exons, and it thus differs in the 5' and 3' coding regions and in both UTRs, compared to variant HRG-beta1. The resulting isoform (SMDF, also known as NRG-III-beta3) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AK289927, M94168
    Consensus CDS
    CCDS6087.1
    UniProtKB/TrEMBL
    Q53F54, Q6ICV5, Q96IB3
    Related
    ENSP00000433289.1, ENST00000520502.7
    Conserved Domains (1) summary
    PHA02887
    Location:236279
    PHA02887; EGF-like protein; Provisional
  21. NM_013960.5NP_039254.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43 proprotein

    See identical proteins and their annotated locations for NP_039254.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (ndf43), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, and it also contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43) has an alternate internal segment and a distinct C-terminus, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK097005, AK298132, BC006492, CA429204, DA805080, M94165, U02326
    Consensus CDS
    CCDS6086.1
    UniProtKB/TrEMBL
    B0FYA9
    Related
    ENSP00000428828.1, ENST00000521670.5
    Conserved Domains (3) summary
    cd05895
    Location:53127
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    pfam00008
    Location:190220
    EGF; EGF-like domain
    pfam02158
    Location:235424
    Neuregulin; Neuregulin family
  22. NM_013962.3NP_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), which uses the type II promoter, 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 contains alternate 5' and 3' terminal exons and thus differs in the 5' and 3' coding regions and in both UTRs, and it also lacks two alternate in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (GGF2, also known as GGFHBS5) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC104000, L12260, M94165, M94168
    Consensus CDS
    CCDS47836.1
    UniProtKB/Swiss-Prot
    Q02297
    Related
    ENSP00000434640.1, ENST00000520407.5
    Conserved Domains (2) summary
    cd05895
    Location:268342
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    cl28647
    Location:362405
    PHA02887; EGF-like protein; Provisional
  23. NM_013964.5NP_039258.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-alpha proprotein

    See identical proteins and their annotated locations for NP_039258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (HRG-alpha), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-alpha, also known as erbB2 or gp30/alpha 1) contains an alternate internal segment and is shorter than isoform HRG-beta1.
    Source sequence(s)
    AC113209, AK097005, AK298132, BC006492, CA429204, DA805080, M94165
    Consensus CDS
    CCDS6085.1
    UniProtKB/Swiss-Prot
    A5YAK4, A5YAK5, A8K1L2, B7Z4Z3, E9PHH4, O14667, P98202, Q02297, Q02298, Q02299, Q07110, Q07111, Q12779, Q12780, Q12781, Q12782, Q12783, Q12784, Q15491, Q7RTV9, Q7RTW0, Q7RTW1, Q7RTW2, Q8NFN1, Q8NFN2, Q8NFN3, Q9UPE3
    UniProtKB/TrEMBL
    Q7RTV8
    Related
    ENSP00000384620.2, ENST00000405005.8
    Conserved Domains (4) summary
    cd05895
    Location:53127
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:43129
    IG_like; Immunoglobulin like
    pfam00008
    Location:190220
    EGF; EGF-like domain
    pfam02158
    Location:235628
    Neuregulin; Neuregulin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    31639245..32774046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544512.3XP_011542814.2  pro-neuregulin-1, membrane-bound isoform isoform X1

    UniProtKB/TrEMBL
    H0YBA3
    Related
    ENSP00000429067.1, ENST00000523534.5
  2. XM_017013367.2XP_016868856.2  pro-neuregulin-1, membrane-bound isoform isoform X2

    UniProtKB/TrEMBL
    H0YBA3
  3. XM_017013371.3XP_016868860.2  pro-neuregulin-1, membrane-bound isoform isoform X4

  4. XM_017013372.3XP_016868861.2  pro-neuregulin-1, membrane-bound isoform isoform X5

  5. XM_017013368.3XP_016868857.1  pro-neuregulin-1, membrane-bound isoform isoform X3

    UniProtKB/TrEMBL
    Q7RTW4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    31920455..33055399
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360388.1XP_054216363.1  pro-neuregulin-1, membrane-bound isoform isoform X1

    UniProtKB/TrEMBL
    H0YBA3
  2. XM_054360389.1XP_054216364.1  pro-neuregulin-1, membrane-bound isoform isoform X2

    UniProtKB/TrEMBL
    H0YBA3
  3. XM_054360391.1XP_054216366.1  pro-neuregulin-1, membrane-bound isoform isoform X4

  4. XM_054360392.1XP_054216367.1  pro-neuregulin-1, membrane-bound isoform isoform X5

  5. XM_054360390.1XP_054216365.1  pro-neuregulin-1, membrane-bound isoform isoform X3

    UniProtKB/TrEMBL
    Q7RTW4