Gene: Mybphl

Basic information

Tag Content
Uniprot ID Q5FW53
Entrez ID 68753
Genbank protein ID AAI32639.1; AAI32637.1; AAH89625.1;
Genbank nucleotide ID NM_026831.1
Ensembl protein ID ENSMUSP00000088051
Ensembl nucleotide ID ENSMUSG00000068745
Gene name Myosin-binding protein H-like
Gene symbol Mybphl
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 27996060
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
METATTLEIA SCSQRQVEAA ADPADAKGPR TSHQQEAGSP SLQLLPSIEE HPKIWLPRAL 60
KQTYIRKAGE TVNLLIPIQG KPKPQTTWTH NGCALDSSRV SVRNGEHDSI LFIREAQRTD 120
SGCYQLCVQL GGLQATATIN ILVIEKPGPP QSIKLVDVWG ANATLEWTPP QDTGNTALLG 180
YTVQKADKKS GLWFTVLERY HRTSCVVSNL IVGNSYAFRV FAENQCGLSD TAPVTADLAH 240
IQKAATVYKA KGFAQRDLSE APKFTQPLAD CTTVTGYDTQ LFCCVRASPR PKIIWLKNKM 300
DLQGNPKYRA LSQLGICSLE IRKPSPFDGG IYTCKAINAL GEASVDCRVD VKAPH 355

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.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMYBPHL538875E1BJ10Bos taurusPredictionMore>>
1:1 orthologMYBPHLA0A452FPL8Capra hircusPredictionMore>>
1:1 orthologMYBPHL343263A2RUH7Homo sapiensPredictionMore>>
1:1 orthologMybphl68753Q5FW53CPOMus musculusPublicationMore>>
1:1 orthologMYBPHL457089H2R227Pan troglodytesPredictionMore>>
1:1 orthologMYBPHL100341020G1U4R4Oryctolagus cuniculusPredictionMore>>
1:1 orthologMybphl310782Q5PQM4Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence

GO:Biological Process

GO ID GO Term Evidence
GO:0001701 in utero embryonic developmentIMP

GO:Cellular Component

GO ID GO Term Evidence

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0963 Cytoplasm
KW-1015 Disulfide bond
KW-0393 Immunoglobulin domain
KW-0488 Methylation
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat

Interpro

InterPro ID InterPro Term
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2

PROSITE

PROSITE ID PROSITE Term
PS50853 FN3
PS50835 IG_LIKE

Pfam

Pfam ID Pfam Term
PF00041 fn3
PF07679 I-set