Seroatlas · Human Serome Atlas

MYZAP

Myocardial zonula adherens protein

Also known as: GCOM1, Gup, Gup1, MYOZAP, MYZAP_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P0CAP1
Gene: MYZAP
Ensembl: ENSG00000263155
Chromosome: 15
Canonical length: 466 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]

Canonical amino-acid sequenceUniProt

466 residues, UniProt reviewed canonical sequence.

>P0CAP1|MYZAP
     1  MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
    61  GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
   121  DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
   181  VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
   241  MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG
   301  ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
   361  HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
   421  VETREIGVGC DLLPSQTGRT REIVMPSRNY TPYTRVLELT MKKTLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYZAP 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.54
Highest tissue expression: 551 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 551 nTPM
urinary bladder: 91 nTPM
adipose tissue: 61 nTPM
placenta: 53 nTPM
adrenal gland: 51 nTPM
esophagus: 39 nTPM

Single-cell type

kupffer cells: 1 nCPM
granulosa cells: 0.8 nCPM
cardiomyocytes: 0.6 nCPM
esophageal apical cells: 0.6 nCPM
salivary myoepithelial cells: 0.6 nCPM
brain excitatory neurons: 0.5 nCPM

Immune cell

naive B-cell: 3.4 nTPM
total PBMC: 2.4 nTPM
naive CD4 T-cell: 2 nTPM
non-classical monocyte: 0.8 nTPM
intermediate monocyte: 0.6 nTPM
neutrophil: 0.5 nTPM

Brain region

pons: 13 nTPM
cerebellum: 10 nTPM
hypothalamus: 5.2 nTPM
medulla oblongata: 4.9 nTPM
midbrain: 3.4 nTPM
basal ganglia: 2.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYZAP.

Disease | AllUniProt

Conditions MYZAP is implicated in, by any mechanism.

Cardiomyopathy, dilated, 2K (CMD2K) MIM:620894

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 8 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cardiomyopathy, dilated, 2K
Primary dilated cardiomyopathy

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): 1.24
gnomAD pLI: 0
gnomAD missense Z: -0.72
DepMap mean gene effect: -0.11
DepMap dependency class: selective

OntologyGO

Biological processes

intracellular signal transduction

Cellular components

Protein domainsUniProt · Pfam · InterPro

Tuftelin/GRINL1A/MYZAP/CCD68

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYZAP 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 MYZAP as an antibody target. Whether an autoantibody or antibody against MYZAP could matter depends on whether native MYZAP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYZAP is annotated at the cell surface, where native MYZAP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label MYZAP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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