NRG1 neuregulin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 8p12

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (31639245..32774046)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (31920455..33055399)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (31496761..32631564)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elevated peripheral Neuregulin-1 protein levels in non-medicated focal epilepsy patients.
Title: Elevated peripheral Neuregulin-1 protein levels in non-medicated focal epilepsy patients.
Oncogenic Neuregulin 1 gene (NRG1) fusions in cancer: A potential new therapeutic opportunities.
Title: Oncogenic Neuregulin 1 gene (NRG1) fusions in cancer: A potential new therapeutic opportunities.
Neuregulin-1 regulates the conversion of M1/M2 microglia phenotype via ErbB4-dependent inhibition of the NF-kappaB pathway.
Title: Neuregulin-1 regulates the conversion of M1/M2 microglia phenotype via ErbB4-dependent inhibition of the NF-κB pathway.
Effects of Oncogene Neuregulin 1 on Breast Cancer Cells.
Title: Effects of Oncogene Neuregulin 1 on Breast Cancer Cells.
AXL regulates neuregulin1 expression leading to cetuximab resistance in head and neck cancer.
Title: AXL regulates neuregulin1 expression leading to cetuximab resistance in head and neck cancer.
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
Title: New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
Significant Association of rs77493513 Polymorphism in 3'-UTR of the NRG1 Gene with the Risk of Multiple Sclerosis Disease.
Title: Significant Association of rs77493513 Polymorphism in 3'-UTR of the NRG1 Gene with the Risk of Multiple Sclerosis Disease.
The impact of NRG1 expressions and methylation on multifactorial Hirschsprung disease.
Title: The impact of NRG1 expressions and methylation on multifactorial Hirschsprung disease.
NRG1 and NRG2 fusion positive solid tumor malignancies: a paradigm of ligand-fusion oncogenesis.
Title: NRG1 and NRG2 fusion positive solid tumor malignancies: a paradigm of ligand-fusion oncogenesis.
The Anti-HER3 mAb Seribantumab Effectively Inhibits Growth of Patient-Derived and Isogenic Cell Line and Xenograft Models with Oncogenic NRG1 Fusions.
Title: The Anti-HER3 mAb Seribantumab Effectively Inhibits Growth of Patient-Derived and Isogenic Cell Line and Xenograft Models with Oncogenic <i>NRG1</i> Fusions.

Submit: New GeneRIF Correction See all GeneRIFs (428)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-78993 (e-PCR)
- UniSTS:101377

RH120054 (e-PCR)
- UniSTS:133378

RH11877 (e-PCR)
- UniSTS:4618

RH65488 (e-PCR)
- UniSTS:80412

L30054 (e-PCR)
- UniSTS:74528

RH123550 (e-PCR)
- UniSTS:135970

G63471 (e-PCR)
- UniSTS:140583

Nrg1 (e-PCR), detects polymorphism
- UniSTS:468009

UniSTS:468010 (e-PCR)
- UniSTS:468010

Nrg1 (e-PCR), detects polymorphism
- UniSTS:468010

RH35824 (e-PCR)
- UniSTS:24633

G30982 (e-PCR)
- UniSTS:57923

D8S278 (e-PCR), detects polymorphism
- UniSTS:22596

D8S375 (e-PCR), detects polymorphism
- UniSTS:76616

AFMA143YG9 (e-PCR)
- UniSTS:21075

SHGC-80823 (e-PCR)
- UniSTS:102483

STS-Z40930 (e-PCR)
- UniSTS:33116

SHGC-82537 (e-PCR)
- UniSTS:100702

SHGC-142734 (e-PCR)
- UniSTS:171619

D8S278 (e-PCR), detects polymorphism
- UniSTS:69227

D8S2063 (e-PCR)
- UniSTS:53869

G63290 (e-PCR)
- UniSTS:140403

G17227 (e-PCR)
- UniSTS:8325

RH98441 (e-PCR)
- UniSTS:89740

D8S1477 (e-PCR)
- UniSTS:12687

D8S499 (e-PCR)
- UniSTS:54672

G59016 (e-PCR)
- UniSTS:136340

D8S1810 (e-PCR), detects polymorphism
- UniSTS:19361

RH119663 (e-PCR)
- UniSTS:133032

SHGC-12780 (e-PCR)
- UniSTS:40881

WI-18803 (e-PCR)
- UniSTS:72652

D8S1125 (e-PCR)
- UniSTS:31697

SHGC-142477 (e-PCR)
- UniSTS:171477

G27359 (e-PCR)
- UniSTS:1242

SHGC-142912 (e-PCR)
- UniSTS:171739

SHGC-81230 (e-PCR)
- UniSTS:102366

RH120019 (e-PCR)
- UniSTS:133343

RH122857 (e-PCR)
- UniSTS:135155

HSC1IA022 (e-PCR)
- UniSTS:32758

Homology

Homologs of the NRG1 gene: The NRG1 gene is conserved in chimpanzee, dog, cow, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 430 organisms have orthologs with human gene NRG1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ErbB-2 class receptor binding	IEA Inferred from Electronic Annotation more info
enables ErbB-3 class receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables chemorepellent activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables cytokine activity	TAS Traceable Author Statement 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 tyrosine kinase activator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables transcription coregulator activity	IDA Inferred from Direct Assay 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 DNA-templated transcription elongation	IEA Inferred from Electronic Annotation more info
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	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	IDA Inferred from Direct Assay more info	PubMed
involved_in ERBB4-ERBB4 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in animal organ development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cardiac conduction system development	IEA Inferred from Electronic Annotation 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	PubMed
involved_in cell morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in chemorepulsion involved in interneuron migration from the subpallium to the cortex	IEA Inferred from Electronic Annotation more info
involved_in endocardial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in glial cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in mammary gland development	TAS Traceable Author Statement more info	PubMed
involved_in myelination in peripheral nervous system	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 neuron migration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor 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 neuron fate commitment	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter receptor metabolic process	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcineurin-NFAT signaling cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein kinase B signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
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 postsynapse to nucleus signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein kinase B signaling	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	IEA Inferred from Electronic Annotation more info
involved_in ventricular trabecula myocardium morphogenesis	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 GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
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	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in integral component of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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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)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012005.2 RefSeqGene

Range

5531..1109032

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001159995.3 → NP_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

A0A494C1F8, A6MW56, E3SFM9

Related

ENSP00000499008.1, ENST00000652698.1

Conserved Domains (4) summary

cd05895
Location:32 → 106

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

smart00410
Location:22 → 108

IG_like; Immunoglobulin like

pfam00008
Location:152 → 182

EGF; EGF-like domain

pfam02158
Location:202 → 595

Neuregulin; Neuregulin family
NM_001159996.3 → NP_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, F6RJN6

Related

ENSP00000439276.2, ENST00000539990.3

Conserved Domains (3) summary

PHA03099
Location:28 → 120

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

cd00054
Location:36 → 68

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:113 → 270

Neuregulin; Neuregulin family
NM_001159999.3 → NP_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

A0A494C1F5, A6MW55, E3SFM9

Related

ENSP00000499045.1, ENST00000650866.1

Conserved Domains (4) summary

cd05895
Location:32 → 106

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

smart00410
Location:22 → 108

IG_like; Immunoglobulin like

pfam00008
Location:169 → 199

EGF; EGF-like domain

pfam02158
Location:219 → 612

Neuregulin; Neuregulin family
NM_001160001.3 → NP_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:32 → 106

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

smart00410
Location:22 → 108

IG_like; Immunoglobulin like

pfam00008
Location:135 → 165

EGF; EGF-like domain

pfam02158
Location:185 → 578

Neuregulin; Neuregulin family
NM_001160002.2 → NP_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:43 → 129

IG_like; Immunoglobulin like

cl11960
Location:53 → 127

Ig; Immunoglobulin domain
NM_001160004.3 → NP_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

A0A494C0K4, B0FYA9

Related

ENSP00000498583.1, ENST00000650980.1

Conserved Domains (3) summary

cd05895
Location:53 → 127

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

pfam02158
Location:232 → 421

Neuregulin; Neuregulin family

cl28647
Location:182 → 271

PHA02887; EGF-like protein; Provisional
NM_001160005.2 → NP_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

A0A494C114, B0FWZ3

Related

ENSP00000498833.1, ENST00000650967.1

Conserved Domains (2) summary

smart00410
Location:43 → 129

IG_like; Immunoglobulin like

cl11960
Location:53 → 127

Ig; Immunoglobulin domain
NM_001160007.2 → NP_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:37 → 43

Ig; putative Ig strand A [structural motif]

cl11960
Location:37 → 129

Ig; Immunoglobulin domain
NM_001160008.2 → NP_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:53 → 127

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

pfam02158
Location:232 → 420

Neuregulin; Neuregulin family

cl28647
Location:182 → 271

PHA02887; EGF-like protein; Provisional
NM_001322197.2 → NP_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:28 → 117

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

pfam02158
Location:78 → 471

Neuregulin; Neuregulin family
NM_001322201.2 → NP_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:1 → 370

Neuregulin; Neuregulin family
NM_001322202.2 → NP_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:1 → 370

Neuregulin; Neuregulin family
NM_001322205.2 → NP_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

A0A494C0Q4, A6MW54

Related

ENSP00000498646.1, ENST00000652592.1

Conserved Domains (2) summary

PHA02887
Location:236 → 279

PHA02887; EGF-like protein; Provisional

pfam02158
Location:295 → 688

Neuregulin; Neuregulin family
NM_001322206.2 → NP_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

UniProtKB/TrEMBL

A0A494C0L9

Related

ENSP00000498590.1, ENST00000651333.1

Conserved Domains (2) summary

PHA02887
Location:236 → 279

PHA02887; EGF-like protein; Provisional

pfam02158
Location:295 → 484

Neuregulin; Neuregulin family
NM_001322207.2 → NP_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

UniProtKB/TrEMBL

A0A494C1B5

Related

ENSP00000498946.1, ENST00000650819.1

Conserved Domains (2) summary

PHA02887
Location:236 → 279

PHA02887; EGF-like protein; Provisional

pfam02158
Location:295 → 483

Neuregulin; Neuregulin family
NM_004495.4 → NP_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:43 → 129

IG_like; Immunoglobulin like

cl11960
Location:53 → 127

Ig; Immunoglobulin domain
NM_013956.5 → NP_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:53 → 127

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

smart00410
Location:43 → 129

IG_like; Immunoglobulin like

pfam00008
Location:190 → 220

EGF; EGF-like domain

pfam02158
Location:240 → 633

Neuregulin; Neuregulin family
NM_013957.5 → NP_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 (3) summary

PHA03099
Location:182 → 271

PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional

smart00409
Location:43 → 129

IG; Immunoglobulin

cd00054
Location:190 → 222

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 ...
NM_013958.4 → NP_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:43 → 129

IG_like; Immunoglobulin like

pfam00008
Location:190 → 220

EGF; EGF-like domain

cl11960
Location:53 → 127

Ig; Immunoglobulin domain
NM_013959.4 → NP_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:236 → 279

PHA02887; EGF-like protein; Provisional
NM_013960.5 → NP_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:53 → 127

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

pfam00008
Location:190 → 220

EGF; EGF-like domain

pfam02158
Location:235 → 424

Neuregulin; Neuregulin family
NM_013962.3 → NP_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:268 → 342

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

cl28647
Location:362 → 405

PHA02887; EGF-like protein; Provisional
NM_013964.5 → NP_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, Q9UPE3

UniProtKB/TrEMBL

Q6PK61

Related

ENSP00000384620.2, ENST00000405005.8

Conserved Domains (4) summary

cd05895
Location:53 → 127

Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1

smart00410
Location:43 → 129

IG_like; Immunoglobulin like

pfam00008
Location:190 → 220

EGF; EGF-like domain

pfam02158
Location:235 → 628

Neuregulin; Neuregulin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

31639245..32774046

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Related

ENSP00000429067.1, ENST00000523534.5
XM_017013367.2 → XP_016868856.2 pro-neuregulin-1, membrane-bound isoform isoform X2
XM_017013371.3 → XP_016868860.2 pro-neuregulin-1, membrane-bound isoform isoform X4
XM_017013372.3 → XP_016868861.2 pro-neuregulin-1, membrane-bound isoform isoform X5
XM_017013368.3 → XP_016868857.1 pro-neuregulin-1, membrane-bound isoform isoform X3