NEXN nexilin (F actin binding protein) [Homo sapiens] - Gene

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Summary

Official Symbol: NEXNprovided by HGNC
Official Full Name: nexilin (F actin binding protein)provided by HGNC
Primary source: HGNC:29557
See related: Ensembl:ENSG00000162614; HPRD:11388; MIM:613121; Vega:OTTHUMG00000040533
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: CMH20; NELIN; MGC104234; MGC138865; MGC138866
Summary: This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

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Genomic context

Location :: 1p31.1

Sequence :: Chromosome: 1; NC_000001.10 (78354200..78409580)

See NEXN in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

the mutations in NEXN that we describe here may further expand the knowledge of Z-disc genes in the pathogenesis of HCM.
Title: Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The findings of thi study on the role of nexilin in maintaining cardiac Z-disk integrity and on the workload dependence to cardiac Z-disk damage in nexilin-linked cardiomyopathy also might have implications for the treatment of NEXN-mutation carriers.
Title: Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
NELIN product is an F-actin associated protein and mediates cell motility
Title: NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.

Submit: New GeneRIF Correction

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Cardiomyopathy, familial hypertrophic, 20

MIM: 613876

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Products	Interactant	Other Gene	Source	Pubs	Description
Nexilin	P68133	ACTA1	HPRD	PubMed
BioGRID:124855	BioGRID:107252	CALM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:124855	BioGRID:198624	Cdk1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124855	BioGRID:214351	Trim69	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124855	BioGRID:234417	Tubgcp3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:124855	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
actin filament binding	IDA Inferred from Direct Assay more info	PubMed
structural constituent of muscle	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
regulation of cytoskeleton organization	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
Z disc	ISS Inferred from Sequence or Structural Similarity more info
cell junction	IEA Inferred from Electronic Annotation more info
cell-substrate adherens junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: nexilin

Names: nexilin

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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_016625.1 RefSeqGene

Range

5001..60381

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001172309.1 → NP_001165780.1 nexilin isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AK293201, AK298565, BQ009808, DC412178, DQ464902

Consensus CDS

CCDS53335.1

UniProtKB/TrEMBL

B4DDI0

UniProtKB/Swiss-Prot

Q0ZGT2

Related

ENSP00000327363, ENST00000330010

Conserved Domains (2) summary

cd00096
Location:535 – 602
Blast Score: 138

Ig; Immunoglobulin domain

pfam07679
Location:518 – 607
Blast Score: 192

I-set; Immunoglobulin I-set domain
NM_144573.3 → NP_653174.3 nexilin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF114264, BQ009808, DC412178, DQ464902

Consensus CDS

CCDS41351.1

UniProtKB/Swiss-Prot

Q0ZGT2

Related

ENSP00000333938, OTTHUMP00000038336, ENST00000334785, OTTHUMT00000097549

Conserved Domains (2) summary

cd00096
Location:599 – 666
Blast Score: 138

Ig; Immunoglobulin domain

pfam07679
Location:582 – 671
Blast Score: 191

I-set; Immunoglobulin I-set domain

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

78354200..78409580

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

76485827..76541199

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC096948.2 (74906..77978)	None
genomic	AC138392.2 (139473..161501)	None
genomic	CH471059.2	EAX06359.1
		EAX06360.1
		EAX06361.1
		EAX06362.1
mRNA	AA249326.1	None
mRNA	AF114264.1	AAD29607.1
mRNA	AF176780.1	AAQ13658.1
mRNA	AK057954.1	BAB71622.1
mRNA	AK127535.1	None
mRNA	AK293201.1	BAG56741.1
mRNA	AK298565.1	BAG60759.1
mRNA	AK300728.1	BAG62401.1
mRNA	AK307487.1	None
mRNA	AY211912.1	AAO65165.1
mRNA	BC017827.1	AAH17827.1
mRNA	BC055084.1	AAH55084.1
mRNA	BC111395.1	AAI11396.1
mRNA	BC114444.1	AAI14445.1
mRNA	BC114445.1	AAI14446.1
mRNA	BQ009808.1	None
mRNA	BX648546.1	None
mRNA	CR936630.1	CAI56773.1
mRNA	DC412178.1	None
mRNA	DQ464902.1	ABE97925.1
mRNA	S67069.1	AAB28815.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q0ZGT2.1	GenPept	UniProtKB/Swiss-Prot:Q0ZGT2
Q5CZ93	GenPept	UniProtKB/TrEMBL:Q5CZ93
Q7Z4C7	GenPept	UniProtKB/TrEMBL:Q7Z4C7
Q86WF6	GenPept	UniProtKB/TrEMBL:Q86WF6