Gene: Plekha1

Basic information

Tag Content
Uniprot ID Q8BUL6; Q8BK96; Q8BXU1; Q8VE13;
Entrez ID 101476
Genbank protein ID AAH20017.1; BAC38874.1;
Genbank nucleotide ID NM_001346515.1; NM_133942.2; XM_006507149.3;
Ensembl protein ID ENSMUSP00000074675; ENSMUSP00000035375;
Ensembl nucleotide ID ENSMUSG00000040268
Gene name Pleckstrin homology domain-containing family A member 1
Gene symbol Plekha1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 17143286
Functional description Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane (By similarity).
Sequence
MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP SGSSRVGAIK 60
LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL VEWVNVLNKA IKITVPKQSD 120
SQPASDSLSR QGDCGKKQVS YRTDIVGGVP IITPTQKEEV NECGESLDRN NLKRSQSHLP 180
YFAPKPPSDS AVIKAGYCVK QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV 240
HKVQECKQSD IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSSSS 300
MRQARRLSNP CIQRSIPAGL QNPNSLSVLP GPQPPPHIPQ PLAATLWSQA VPWRSEEFTN 360
LLPRSSQGTS RSRLSLQESQ LPK 383

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

There is no orthologous record for this gene !

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0030165 PDZ domain bindingISO
GO:0030165 PDZ domain bindingIBA
GO:0043325 phosphatidylinositol-3,4-bisphosphate bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0001553 luteinizationIGI
GO:0007283 spermatogenesisIMP
GO:0008209 androgen metabolic processIMP
GO:0008210 estrogen metabolic processIGI
GO:0008585 female gonad developmentIGI
GO:0009791 post-embryonic developmentIMP
GO:0014065 phosphatidylinositol 3-kinase signalingISO
GO:0031529 ruffle organizationISO
GO:0033327 Leydig cell differentiationIMP
GO:0035264 multicellular organism growthIMP
GO:0045184 establishment of protein localizationISO
GO:0048008 platelet-derived growth factor receptor signaling pathwayIMP
GO:0048705 skeletal system morphogenesisIMP
GO:0050853 B cell receptor signaling pathwayISO
GO:0051898 negative regulation of protein kinase B signalingISO
GO:0060021 roof of mouth developmentIMP
GO:0060325 face morphogenesisIMP
GO:0070301 cellular response to hydrogen peroxideISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIBA
GO:0005829 cytosolISO
GO:0005886 plasma membraneISO
GO:0016020 membraneIBA
GO:0032587 ruffle membraneISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-1483255 PI MetabolismIEA
R-MMU-1483257 Phospholipid metabolismIEA
R-MMU-1660499 Synthesis of PIPs at the plasma membraneIEA
R-MMU-556833 Metabolism of lipidsIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-1003 Cell membrane
KW-0963 Cytoplasm
KW-0446 Lipid-binding
KW-0472 Membrane
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0677 Repeat

Interpro

InterPro ID InterPro Term
IPR011993 PH-like_dom_sf
IPR001849 PH_domain

PROSITE

PROSITE ID PROSITE Term
PS50003 PH_DOMAIN

Pfam

Pfam ID Pfam Term
PF00169 PH

Protein-miRNA interaction