Gene: MYBPHL

Basic information

Tag Content
Uniprot ID A2RUH7; B7ZME5; Q5T2Z7;
Entrez ID 343263
Genbank protein ID AAI32903.1; AAI44472.1; EAW56379.1; AAI32901.1;
Genbank nucleotide ID NM_001010985.2; NM_001265613.1; XM_017001174.1; XM_017001175.1; XM_017001173.1;
Ensembl protein ID ENSP00000349678
Ensembl nucleotide ID ENSG00000221986
Gene name Myosin-binding protein H-like
Gene symbol MYBPHL
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Myosin-binding protein which plays a role in cardiac function (PubMed:28778945). Seems to regulate conduction in the atria and ventricular conduction systems (PubMed:28778945).
Sequence
MEAATAPEVA AGSKLKVKEA SPADAEPPQA SPGQGAGSPT PQLLPPIEEH PKIWLPRALR 60
QTYIRKVGDT VNLLIPFQGK PKPQAIWTHD GCALDTRRVS VRNGEQDSIL FIREAQRADS 120
GRYQLRVQLG GLEATATIDI LVIERPGPPQ SIKLVDVWGF SATLEWTPPQ DTGNTALLGY 180
TVQKADTKSG LWFTVLEHYH RTSCIVSDLI IGNSYAFRVF AENQCGLSET APITTDLAHI 240
QKAATVYKTK GFAQRDFSEA PKFTQPLADC TTVTGYNTQL FCCVRASPRP KIIWLKNKMD 300
IQGNPKYRAL THLGICSLEI RKPGPFDGGI YTCKAVNPLG EASVDCRVDV KVPN 354

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)