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NRG1 neuregulin 1 [ Homo sapiens (human) ]

Gene ID: 3084, updated on 1-Jun-2020

Summary

Official Symbol
NRG1provided by HGNC
Official Full Name
neuregulin 1provided by HGNC
Primary source
HGNC:HGNC:7997
See related
Ensembl:ENSG00000157168 MIM:142445
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

Genomic context

See NRG1 in Genome Data Viewer
Location:
8p12
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (31639245..32774046)
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 Sharpr-MPRA regulatory region 7305 Neighboring gene uncharacterized LOC107986936 Neighboring gene NRG1 intronic transcript 1 Neighboring gene RNA, 5S ribosomal pseudogene 262 Neighboring gene RNA, 5S ribosomal pseudogene 263 Neighboring gene uncharacterized LOC105379361 Neighboring gene NRG1 intronic transcript 3 Neighboring gene uncharacterized LOC105379362 Neighboring gene RNA, U6 small nuclear 663, pseudogene 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

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
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
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 for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chemorepellent activity IEA
Inferred from Electronic Annotation
more info
 
cytokine activity TAS
Traceable Author Statement
more info
PubMed 
growth factor activity NAS
Non-traceable Author Statement
more info
PubMed 
integrin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor tyrosine kinase binding NAS
Non-traceable Author Statement
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coregulator activity IDA
Inferred from Direct Assay
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 
ERBB signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
ERBB3 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
activation of MAPK activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase B activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
animal organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
chemorepulsion involved in interneuron migration from the subpallium to the cortex IEA
Inferred from Electronic Annotation
more info
 
endocardial cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
glial cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
mammary gland development TAS
Traceable Author Statement
more info
PubMed 
myelination in peripheral nervous system IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron migration IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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
 
oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
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 cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of striated muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynapse to nucleus signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of cell motility TAS
Traceable Author Statement
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
ventricular trabecula myocardium morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
wound healing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
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
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
pro-neuregulin-1, membrane-bound isoform
Names
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)

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_012005.2 RefSeqGene

    Range
    5531..1109032
    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
    UniProtKB/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    A6MW56, 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_001159996.2NP_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, CN603661, DA805080, DC425692
    Consensus CDS
    CCDS75727.1
    UniProtKB/TrEMBL
    B7Z1D7, F6RJN6
    Related
    ENSP00000439276.2, ENST00000539990.3
    Conserved Domains (2) summary
    pfam00008
    Location:3666
    EGF; EGF-like domain
    pfam02158
    Location:81270
    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
    UniProtKB/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    A6MW55, 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/Swiss-Prot
    Q02297
    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
    UniProtKB/TrEMBL
    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_001160005.1NP_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), 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
    UniProtKB/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    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 (1) summary
    cl11960
    Location:53127
    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/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    Q6PK61
    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
    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
    UniProtKB/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    A6MW54
    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
    UniProtKB/Swiss-Prot
    Q02297
    Related
    ENSP00000498590.1, ENST00000651333.1
    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
    UniProtKB/Swiss-Prot
    Q02297
    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
    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/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    Q6PK61
    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/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    Q6PK61, Q7RTW3
    Related
    ENSP00000349275.6, ENST00000356819.7
    Conserved Domains (4) summary
    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
    pfam02158
    Location:232625
    Neuregulin; Neuregulin family
  19. 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), 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
    UniProtKB/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    A0A024QY88
    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_013959.3NP_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), 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/Swiss-Prot
    Q02297
    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/Swiss-Prot
    Q02297
    UniProtKB/TrEMBL
    Q6PK61
    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_013962.2NP_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), 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)
    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
    Q02297
    UniProtKB/TrEMBL
    Q6PK61
    Related
    ENSP00000384620.2, ENST00000405005.7
    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:235628
    Neuregulin; Neuregulin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011544512.2XP_011542814.1  pro-neuregulin-1, membrane-bound isoform isoform X8

    Related
    ENSP00000429067.1, ENST00000523534.5
    Conserved Domains (4) summary
    cd05895
    Location:60134
    Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
    smart00410
    Location:50136
    IG_like; Immunoglobulin like
    pfam00008
    Location:197227
    EGF; EGF-like domain
    pfam02158
    Location:247640
    Neuregulin; Neuregulin family
  2. XM_017013365.2XP_016868854.1  pro-neuregulin-1, membrane-bound isoform isoform X3

  3. XM_017013366.2XP_016868855.1  pro-neuregulin-1, membrane-bound isoform isoform X4

  4. XM_017013371.2XP_016868860.1  pro-neuregulin-1, membrane-bound isoform isoform X11

  5. XM_017013372.2XP_016868861.1  pro-neuregulin-1, membrane-bound isoform isoform X12

  6. XM_017013367.1XP_016868856.1  pro-neuregulin-1, membrane-bound isoform isoform X5

  7. XM_024447143.1XP_024302911.1  pro-neuregulin-1, membrane-bound isoform isoform X7

  8. XM_017013368.2XP_016868857.1  pro-neuregulin-1, membrane-bound isoform isoform X6

  9. XM_005273486.3XP_005273543.1  pro-neuregulin-1, membrane-bound isoform isoform X1

    Conserved Domains (2) summary
    PHA02887
    Location:236278
    PHA02887; EGF-like protein; Provisional
    pfam02158
    Location:290683
    Neuregulin; Neuregulin family
  10. XM_005273487.3XP_005273544.1  pro-neuregulin-1, membrane-bound isoform isoform X2

    Conserved Domains (2) summary
    PHA03099
    Location:237326
    PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
    pfam02158
    Location:287680
    Neuregulin; Neuregulin family
  11. XM_017013369.2XP_016868858.1  pro-neuregulin-1, membrane-bound isoform isoform X9

  12. XM_017013370.1XP_016868859.1  pro-neuregulin-1, membrane-bound isoform isoform X10

  13. XM_006716335.3XP_006716398.1  pro-neuregulin-1, membrane-bound isoform isoform X13

    Conserved Domains (1) summary
    pfam02158
    Location:15408
    Neuregulin; Neuregulin family
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