• Gene id: 10529

Gene Summary

• Gene Symbol: NEBL   Gene   UCSC   Ensembl
• Aliases: C10orf113, LASP2, LNEBL, bA165O3.1
• Gene name: nebulette
• Alternate names: nebulette, LIM and SH3 protein 2, LIM-nebulette, actin-binding Z-disk protein,
• Gene location: 10p12.31 (21293049: 20779972)     Exons: 43     NC_000010.11
• Gene summary(Entrez): This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril
• OMIM: 605491

Protein Summary

• Protein general information: O76041  
  • Name: Nebulette (Actin binding Z disk protein)
  • Length: 1014  
  • Mass: 116453
  • Tissue specificity: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such as in fibroblasts.
• Sequence:

  MRVPVFEDIKDETEEEKIGEEENEEDQVFYKPVIEDLSMELARKCTELISDIRYKEEFKKSKDKCTFVTDSPMLN
  HVKNIGAFISEAKYKGTIKADLSNSLYKRMPATIDSVFAGEVTQLQSEVAYKQKHDAAKGFSDYAHMKEPPEVKH
  AMEVNKHQSNISYRKDVQDTHTYSAELDRPDIKMATQISKIISNAEYKKGQGIMNKEPAVIGRPDFEHAVEASKL
  SSQIKYKEKFDNEMKDKKHHYNPLESASFRQNQLAATLASNVKYKKDIQNMHDPVSDLPNLLFLDHVLKASKMLS
  GREYKKLFEENKGMYHFDADAVEHLHHKGNAVLQSQVKYKEEYEKNKGKPMLEFVETPSYQASKEAQKMQSEKVY
  KEDFEKEIKGRSSLDLDKTPEFLHVKYITNLLREKEYKKDLENEIKGKGMELNSEVLDIQRAKRASEMASEKEYK
  KDLESIIKGKGMQAGTDTLEMQHAKKAAEIASEKDYKRDLETEIKGKGMQVSTDTLDVQRAKKASEMASQKQYKK
  DLENEIKGKGMQVSMDIPDILRAKRTSEIYSQRKYKDEAEKMLSNYSTIADTPEIQRIKTTQQNISAVFYKKEVG
  AGTAVKDSPEIERVKKNQQNISSVKYKEEIKHATAISDPPELKRVKENQKNISNLQYKEQNYKATPVSMTPEIER
  VRRNQEQLSAVKYKGELQRGTAISDPPELKRAKENQKNISNVYYRGQLGRATTLSVTPEMERVKKNQENISSVKY
  TQDHKQMKGRPSLILDTPAMRHVKEAQNHISMVKYHEDFEKTKGRGFTPVVDDPVTERVRKNTQVVSDAAYKGVH
  PHIVEMDRRPGIIVDLKVWRTDPGSIFDLDPLEDNIQSRSLHMLSEKASHYRRHWSRSHSSSTFGTGLGDDRSEI
  SEIYPSFSCCSEVTRPSDEGAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYRAMYDYSAQDEDEVSF
  RDGDYIVNVQPIDDGWMYGTVQRTGRTGMLPANYIEFVN

• Structural information:
  • Protein Domains: (954..101-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR035631  IPR000900  IPR036028  IPR001452  
  • Prosite: PS51216 PS50002
  • CDD: cd11935
  • PDB: 4F14
  • PDBsum: 4F14
  • STRING: ENSP00000366326
• Other Databases: GeneCards:  NEBL  Malacards:  NEBL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0071691	cardiac muscle thin filament assembly	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0048747	muscle fiber development	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008092	cytoskeletal protein binding	IDA	molecular function
GO:0051015	actin filament binding	IDA	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0030018	Z disc	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0071691	cardiac muscle thin filament assembly	IMP	biological process
GO:0071691	cardiac muscle thin filament assembly	IMP	biological process
GO:0031674	I band	NAS	cellular component
GO:0008307	structural constituent of muscle	NAS	molecular function
GO:0005523	tropomyosin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031005	filamin binding	IPI	molecular function
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cardiomyopathy	PMID:11140941
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq