Format

Send to:

Choose Destination

AGRN agrin [ Homo sapiens (human) ]

Gene ID: 375790, updated on 30-Aug-2020

Summary

Official Symbol
AGRNprovided by HGNC
Official Full Name
agrinprovided by HGNC
Primary source
HGNC:HGNC:329
See related
Ensembl:ENSG00000188157 MIM:103320
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
CMS8; AGRIN; CMSPPD
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
Expression
Broad expression in kidney (RPKM 31.2), lung (RPKM 13.9) and 21 other tissues See more
Orthologs

Genomic context

See AGRN in Genome Data Viewer
Location:
1p36.33
Exon count:
41
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1020102..1056119)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (955503..991499)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 12 Neighboring gene ISG15 ubiquitin like modifier Neighboring gene uncharacterized LOC100288175 Neighboring gene uncharacterized LOC105378948 Neighboring gene conserved acetylation island sequence 30 enhancer

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chondroitin sulfate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
dystroglycan binding ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
heparan sulfate proteoglycan binding ISS
Inferred from Sequence or Structural Similarity
more info
 
laminin binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sialic acid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
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 
animal organ morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clustering of voltage-gated sodium channels TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
neuromuscular junction development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic growth at neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor clustering IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor clustering IDA
Inferred from Direct Assay
more info
PubMed 
receptor clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synapse organization TAS
Traceable Author Statement
more info
PubMed 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with collagen-containing extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
agrin
Names
agrin proteoglycan

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_016346.1 RefSeqGene

    Range
    5001..40997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_198

mRNA and Protein(s)

  1. NM_001305275.2NP_001292204.1  agrin isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL645608
    Related
    ENSP00000484607.1, ENST00000620552.4
    Conserved Domains (9) summary
    smart00280
    Location:489534
    KAZAL; Kazal type serine protease inhibitors
    smart00200
    Location:11301254
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
    cd00054
    Location:18251857
    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 ...
    cd00104
    Location:421461
    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 ...
    pfam00053
    Location:793835
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:19212051
    Laminin_G_1; Laminin G domain
    pfam00008
    Location:13331363
    EGF; EGF-like domain
    pfam03146
    Location:44146
    NtA; Agrin NtA domain
    cl00097
    Location:349389
    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 ...
  2. NM_001364727.2NP_001351656.1  agrin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL645608
    Related
    ENSP00000498543.1, ENST00000652369.1
    Conserved Domains (8) summary
    smart00280
    Location:384429
    KAZAL; Kazal type serine protease inhibitors
    smart00200
    Location:10251149
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
    cd00054
    Location:17201752
    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 ...
    cd00104
    Location:316356
    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 ...
    pfam00053
    Location:688730
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:17971927
    Laminin_G_1; Laminin G domain
    pfam00008
    Location:12281258
    EGF; EGF-like domain
    cl00097
    Location:244284
    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 ...
  3. NM_198576.4NP_940978.2  agrin isoform 2 precursor

    See identical proteins and their annotated locations for NP_940978.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks alternate in-frame exons in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AB191264, AL645608, AW119098, BC007649, CK000983, CN314674, CN314678
    Consensus CDS
    CCDS30551.1
    UniProtKB/Swiss-Prot
    O00468
    Related
    ENSP00000368678.2, ENST00000379370.7
    Conserved Domains (9) summary
    smart00280
    Location:489534
    KAZAL; Kazal type serine protease inhibitors
    smart00200
    Location:11301254
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
    cd00054
    Location:18211853
    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 ...
    cd00104
    Location:421461
    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 ...
    pfam00008
    Location:13331363
    EGF; EGF-like domain
    pfam00053
    Location:793835
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:18982028
    Laminin_G_1; Laminin G domain
    pfam03146
    Location:44146
    NtA; Agrin NtA domain
    cl00097
    Location:349389
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1020102..1056119
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244749.3XP_005244806.1  agrin isoform X1

    UniProtKB/Swiss-Prot
    O00468
    Conserved Domains (9) summary
    smart00280
    Location:489534
    KAZAL; Kazal type serine protease inhibitors
    smart00200
    Location:11301254
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
    cd00054
    Location:18251857
    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 ...
    cd00104
    Location:421461
    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 ...
    pfam00008
    Location:13331363
    EGF; EGF-like domain
    pfam00053
    Location:793835
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:19022032
    Laminin_G_1; Laminin G domain
    pfam03146
    Location:44146
    NtA; Agrin NtA domain
    cl00097
    Location:349389
    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 ...
  2. XM_011541429.2XP_011539731.1  agrin isoform X2

    Conserved Domains (9) summary
    smart00280
    Location:489534
    KAZAL; Kazal type serine protease inhibitors
    smart00200
    Location:11301254
    SEA; Domain found in sea urchin sperm protein, enterokinase, agrin
    cd00054
    Location:18251857
    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 ...
    cd00104
    Location:421461
    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 ...
    pfam00008
    Location:13331363
    EGF; EGF-like domain
    pfam00053
    Location:793835
    Laminin_EGF; Laminin EGF domain
    pfam00054
    Location:14001531
    Laminin_G_1; Laminin G domain
    pfam03146
    Location:44146
    NtA; Agrin NtA domain
    cl00097
    Location:349389
    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 ...

RNA

  1. XR_946650.2 RNA Sequence

Support Center