NEBL
Nebulette
Also known as: bA165O3.1, C10orf113, LASP2, LNEBL, NEBL_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O76041
- Gene
- NEBL
- Ensembl
- ENSG00000078114
- Chromosome
- 10
- Canonical length
- 1014 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
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 assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Canonical amino-acid sequenceUniProt
1014 residues, UniProt reviewed canonical sequence.
>O76041|NEBL
1 MRVPVFEDIK DETEEEKIGE EENEEDQVFY KPVIEDLSME LARKCTELIS DIRYKEEFKK
61 SKDKCTFVTD SPMLNHVKNI GAFISEAKYK GTIKADLSNS LYKRMPATID SVFAGEVTQL
121 QSEVAYKQKH DAAKGFSDYA HMKEPPEVKH AMEVNKHQSN ISYRKDVQDT HTYSAELDRP
181 DIKMATQISK IISNAEYKKG QGIMNKEPAV IGRPDFEHAV EASKLSSQIK YKEKFDNEMK
241 DKKHHYNPLE SASFRQNQLA ATLASNVKYK KDIQNMHDPV SDLPNLLFLD HVLKASKMLS
301 GREYKKLFEE NKGMYHFDAD AVEHLHHKGN AVLQSQVKYK EEYEKNKGKP MLEFVETPSY
361 QASKEAQKMQ SEKVYKEDFE KEIKGRSSLD LDKTPEFLHV KYITNLLREK EYKKDLENEI
421 KGKGMELNSE VLDIQRAKRA SEMASEKEYK KDLESIIKGK GMQAGTDTLE MQHAKKAAEI
481 ASEKDYKRDL ETEIKGKGMQ VSTDTLDVQR AKKASEMASQ KQYKKDLENE IKGKGMQVSM
541 DIPDILRAKR TSEIYSQRKY KDEAEKMLSN YSTIADTPEI QRIKTTQQNI SAVFYKKEVG
601 AGTAVKDSPE IERVKKNQQN ISSVKYKEEI KHATAISDPP ELKRVKENQK NISNLQYKEQ
661 NYKATPVSMT PEIERVRRNQ EQLSAVKYKG ELQRGTAISD PPELKRAKEN QKNISNVYYR
721 GQLGRATTLS VTPEMERVKK NQENISSVKY TQDHKQMKGR PSLILDTPAM RHVKEAQNHI
781 SMVKYHEDFE KTKGRGFTPV VDDPVTERVR KNTQVVSDAA YKGVHPHIVE MDRRPGIIVD
841 LKVWRTDPGS IFDLDPLEDN IQSRSLHMLS EKASHYRRHW SRSHSSSTFG TGLGDDRSEI
901 SEIYPSFSCC SEVTRPSDEG APVLPGAYQQ SHSQGYGYMH QTSVSSMRSM QHSPNLRTYR
961 AMYDYSAQDE DEVSFRDGDY IVNVQPIDDG WMYGTVQRTG RTGMLPANYI EFVNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NEBL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 292 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 292 nTPM
- basal ganglia: 19 nTPM
- amygdala: 18 nTPM
- hypothalamus: 16 nTPM
- cerebral cortex: 15 nTPM
- hippocampal formation: 15 nTPM
Single-cell type
- podocytes: 4,259 nCPM
- cardiomyocytes: 3,559 nCPM
- astrocytes: 1,701 nCPM
- ependymal cells: 1,682 nCPM
- salivary acinar cells: 1,533 nCPM
- retinal horizontal cells: 1,475 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 105 nTPM
- midbrain: 105 nTPM
- medulla oblongata: 94 nTPM
- hypothalamus: 93 nTPM
- cerebellum: 91 nTPM
- spinal cord: 90 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NEBL.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 1,467 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.14
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.94
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- actin filament binding
- cytoskeletal protein binding
- filamin binding
- structural constituent of muscle
- tropomyosin binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NEBL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NEBL as an antibody target. Whether an autoantibody or antibody against NEBL could matter depends on whether native NEBL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NEBL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NEBL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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