AGRN agrin [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: AGRNprovided by HGNC
Official Full Name: agrinprovided by HGNC
Primary source: HGNC:329
Locus tag: RP11-54O7.13-009
See related: Ensembl:ENSG00000188157; HPRD:10550; MIM:103320; Vega:OTTHUMG00000040778
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: FLJ45064
Summary: This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. [provided by RefSeq, Aug 2011]

Help top of page

Genomic context

Location :: 1p36.33

Sequence :: Chromosome: 1; NC_000001.10 (955503..991492)

See AGRN in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In contrast to wild-type neurons which form synapses and survive for prolonged periods, agrin-deficient neurons do not mature and are rapidly eliminated in the transgenic olfactory bulb.
Title: Agrin-signaling is necessary for the integration of newly generated neurons in the adult olfactory bulb.
Agrin immunohistochemistry may facilitate determination of primary versus metastatic origin in problematic liver cancer cases.
Title: Agrin immunohistochemistry facilitates the determination of primary versus metastatic origin of liver carcinomas.
different regions within the agrin protein are responsible for synapse formation at the neuromuscular junction and for process formation in central nervous system neurons
Title: The process-inducing activity of transmembrane agrin requires follistatin-like domains.
The agrin mutation does not interfere with its ability to induce postsynaptic structures but that it dramatically perturbs the maintenance of the neuromuscular junction.
Title: Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
agrin facilitates the discrimination of benign and malignant hepatocellular lesions
Title: Agrin and CD34 immunohistochemistry for the discrimination of benign versus malignant hepatocellular lesions.
study concludes that Abeta can modulate the cellular expression of agrin and glypican-1, which may contribute to the accumulation of these heparan sulfate proteoglycans in Alzheimer's disease lesions
Title: Amyloid beta induces cellular relocalization and production of agrin and glypican-1.
The agrin expression in human T cells is regulated by cell activation and IFN-alpha, and may have an important function during cell activation with potential implications for autoimmunity.
Title: Agrin signalling contributes to cell activation and is overexpressed in T lymphocytes from lupus patients.
agrin might play an important role in neoangiogenesis in human HCC, being a part of the newly formed vasculature. In CC, however, agrin might be involved in tumor progression
Title: Comparison of the expression of agrin, a basement membrane heparan sulfate proteoglycan, in cholangiocarcinoma and hepatocellular carcinoma.
in the NtA-laminin complex, conserved amino acids in the gamma 1 chain are prerequisite for the binding to agrin
Title: Structure and laminin-binding specificity of the NtA domain expressed in eukaryotic cells.

Submit: New GeneRIF Correction See all (16)

Help top of page

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Myasthenia, limb-girdle, familial

MIM: 254300

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
O00468	P54259	ATN1	HPRD	PubMed
O00468	Growth factor independent 1B	GFI1B	HPRD	PubMed
BioGRID:132000	BioGRID:112221	ATXN7	BioGRID	PubMed	Two-hybrid
BioGRID:132000	BioGRID:107227	CACNA1A	BioGRID	PubMed	Two-hybrid
BioGRID:132000	BioGRID:107975	DAG1	BioGRID	PubMed	Far Western
BioGRID:132000	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
acetylcholine receptor regulator activity	IEA Inferred from Electronic Annotation more info
laminin binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
G-protein coupled acetylcholine receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
axon guidance	TAS Traceable Author Statement more info
cell differentiation	IEA Inferred from Electronic Annotation more info
clustering of voltage-gated sodium channels	TAS Traceable Author Statement more info	PubMed
multicellular organismal development	IEA Inferred from Electronic Annotation more info
neuromuscular junction development	IEA Inferred from Electronic Annotation more info
neurotransmitter receptor metabolic process	IEA Inferred from Electronic Annotation more info
plasma membrane organization	IEA Inferred from Electronic Annotation more info
positive regulation of neuron apoptosis	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
receptor clustering	IDA Inferred from Direct Assay more info	PubMed
receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of receptor activity	IEA Inferred from Electronic Annotation more info
regulation of synaptic growth at neuromuscular junction	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
synapse assembly	IEA Inferred from Electronic Annotation more info
synapse organization	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
basal lamina	IDA Inferred from Direct Assay more info	PubMed
cell surface	IEA Inferred from Electronic Annotation more info
extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
colocalizes_with extracellular matrix	TAS Traceable Author Statement more info
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: agrin

Names: agrin; agrin proteoglycan

Help top of page

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

NG_016346.1 RefSeqGene

Range

5001..40997

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_198576.3 → NP_940978.2 agrin precursor

Status: REVIEWED

Source sequence(s)

AB191264, AL645608, AW119098, BC007649, CK000983, CN314674, CN314678

Consensus CDS

CCDS30551.1

UniProtKB/Swiss-Prot

O00468

Related

ENSP00000368678, OTTHUMP00000038465, ENST00000379370, OTTHUMT00000097990

Conserved Domains (10) summary

cd00054
Location:1821 – 1853
Blast Score: 101

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 ...

cd00055
Location:792 – 833
Blast Score: 148

EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...

cd00104
Location:494 – 534
Blast Score: 132

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

cd00110
Location:1377 – 1526
Blast Score: 392

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam03146
Location:30 – 157
Blast Score: 616

NtA; Agrin NtA domain

smart00057
Location:537 – 599
Blast Score: 83

FIMAC; factor I membrane attack complex

smart00180
Location:793 – 835
Blast Score: 160

EGF_Lam; Laminin-type epidermal growth factor-like domai

cl00097
Location:346 – 389
Blast Score: 118

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

cl02507
Location:1150 – 1254
Blast Score: 248

SEA; SEA domain

cl09941
Location:1333 – 1367
Blast Score: 81

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

955503..991492

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

226888..263230

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL645608.30	CAI15575.2
		CAI15576.1
genomic	CH471183.1	EAW56293.1
mRNA	AB191264.1	BAD52440.1
mRNA	AF016903.1	AAC39776.1
mRNA	AK021586.1	BAG51039.1
mRNA	AK125197.1	None
mRNA	AK128761.1	None
mRNA	AW119098.1	None
mRNA	AW204172.1	None
mRNA	BC004220.2	AAH04220.2
mRNA	BC007649.1	AAH07649.1
mRNA	BC034009.1	AAH34009.1
mRNA	BC063620.1	AAH63620.1
mRNA	BC084578.1	AAH84578.1
mRNA	BE383214.1	None
mRNA	BF569502.1	None
mRNA	BF740118.1	None
mRNA	BQ892267.1	None
mRNA	CK000983.1	None
mRNA	CN314674.1	None
mRNA	CN314678.1	None
mRNA	S44195.1	AAB23327.1
mRNA	U84406.1	AAB52917.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O00468.4	GenPept	UniProtKB/Swiss-Prot:O00468
Q15952	GenPept	UniProtKB/TrEMBL:Q15952
Q5XG79	GenPept	UniProtKB/TrEMBL:Q5XG79