Seroatlas · Human Serome Atlas

MYBPC1

Myosin-binding protein C, slow-type

Also known as: MYPC1_HUMAN, ssMyBP-C

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

Protein identityUniProt · HPA

UniProt accession: Q00872
Gene: MYBPC1
Ensembl: ENSG00000196091
Chromosome: 12
Canonical length: 1141 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

1141 residues, UniProt reviewed canonical sequence.

>Q00872|MYBPC1
     1  MPEPTKKEEN EVPAPAPPPE EPSKEKEAGT TPAKDWTLVE TPPGEEQAKQ NANSQLSILF
    61  IEKPQGGTVK VGEDITFIAK VKAEDLLRKP TIKWFKGKWM DLASKAGKHL QLKETFERHS
   121  RVYTFEMQII KAKDNFAGNY RCEVTYKDKF DSCSFDLEVH ESTGTTPNID IRSAFKRSGE
   181  GQEDAGELDF SGLLKRREVK QQEEEPQVDV WELLKNAKPS EYEKIAFQYG ITDLRGMLKR
   241  LKRMRREEKK SAAFAKILDP AYQVDKGGRV RFVVELADPK LEVKWYKNGQ EIRPSTKYIF
   301  EHKGCQRILF INNCQMTDDS EYYVTAGDEK CSTELFVREP PIMVTKQLED TTAYCGERVE
   361  LECEVSEDDA NVKWFKNGEE IIPGPKSRYR IRVEGKKHIL IIEGATKADA AEYSVMTTGG
   421  QSSAKLSVDL KPLKILTPLT DQTVNLGKEI CLKCEISENI PGKWTKNGLP VQESDRLKVV
   481  HKGRIHKLVI ANALTEDEGD YVFAPDAYNV TLPAKVHVID PPKIILDGLD ADNTVTVIAG
   541  NKLRLEIPIS GEPPPKAMWS RGDKAIMEGS GRIRTESYPD SSTLVIDIAE RDDSGVYHIN
   601  LKNEAGEAHA SIKVKVVDFP DPPVAPTVTE VGDDWCIMNW EPPAYDGGSP ILGYFIERKK
   661  KQSSRWMRLN FDLCKETTFE PKKMIEGVAY EVRIFAVNAI GISKPSMPSR PFVPLAVTSP
   721  PTLLTVDSVT DTTVTMRWRP PDHIGAAGLD GYVLEYCFEG STSAKQSDEN GEAAYDLPAE
   781  DWIVANKDLI DKTKFTITGL PTDAKIFVRV KAVNAAGASE PKYYSQPILV KEIIEPPKIR
   841  IPRHLKQTYI RRVGEAVNLV IPFQGKPRPE LTWKKDGAEI DKNQINIRNS ETDTIIFIRK
   901  AERSHSGKYD LQVKVDKFVE TASIDIQIID RPGPPQIVKI EDVWGENVAL TWTPPKDDGN
   961  AAITGYTIQK ADKKSMEWFT VIEHYHRTSA TITELVIGNE YYFRVFSENM CGLSEDATMT
  1021  KESAVIARDG KIYKNPVYED FDFSEAPMFT QPLVNTYAIA GYNATLNCSV RGNPKPKITW
  1081  MKNKVAIVDD PRYRMFSNQG VCTLEIRKPS PYDGGTYCCK AVNDLGTVEI ECKLEVKVIA
  1141  Q

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYBPC1 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): 0.35
Highest tissue expression: 10,574 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 10,574 nTPM
tongue: 4,864 nTPM
midbrain: 90 nTPM
esophagus: 89 nTPM
prostate: 78 nTPM
breast: 60 nTPM

Single-cell type

myonuclei: 14,831 nCPM
thymic myoid cells: 5,551 nCPM
prostatic glandular cells: 1,013 nCPM
breast hormone-responsive cells: 511 nCPM
prostatic club cells: 477 nCPM
salivary acinar cells: 144 nCPM

Immune cell

intermediate monocyte: 0.1 nTPM
myeloid DC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

thalamus: 72 nTPM
basal ganglia: 67 nTPM
midbrain: 65 nTPM
cerebellum: 55 nTPM
hypothalamus: 54 nTPM
amygdala: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYBPC1.

Disease | AllUniProt

Conditions MYBPC1 is implicated in, by any mechanism.

Arthrogryposis, distal, 1B (DA1B) MIM:614335
Lethal congenital contracture syndrome 4 (LCCS4) MIM:614915
Congenital myopathy 16 (CMYO16) MIM:618524

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 461 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Myopathy, congenital, with tremor
Arthrogryposis, distal, type 1B
MYBPC1-related disorder
Distal arthrogryposis
Inborn genetic diseases

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): 0.46
gnomAD pLI: 0
gnomAD missense Z: 1.02
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MYBPC1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

USP25

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MYBPC1 as an antibody target. Whether an autoantibody or antibody against MYBPC1 could matter depends on whether native MYBPC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MYBPC1 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 MYBPC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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