Tag | Content |
---|---|
Uniprot ID | P12830; A8K1U7; Q13799; Q14216; Q15855; Q16194; Q4PJ14; Q9UII8; |
Entrez ID | 999 |
Genbank protein ID | BAA08537.1; CAA84586.1; CAA78353.1; CAA36522.1; EAW83244.1; AAA61259.1; BAF82701.1; EAW83243.1; BAA88956.1; AAA21764.1; AAY68225.1; AAD14108.1; BAG35448.1; CAA79356.1; CAA31279.1; |
Genbank nucleotide ID | NM_001317185.1; NM_001317184.1; NM_004360.4; NM_001317186.1; |
Ensembl protein ID | ENSP00000261769; ENSP00000414946; |
Ensembl nucleotide ID | ENSG00000039068 |
Gene name | Cadherin-1 |
Gene symbol | CDH1 |
Organism | Homo sapiens |
NCBI taxa ID | 9606 |
Cleft type | CPO,CL/P |
Developmental stage | |
Data sources | Manually collected |
Reference | 26123647; 20880515; 28376813; 28151848; 24838934; |
Functional description | Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. |
Sequence | MGPWSRSLSA LLLLLQVSSW LCQEPEPCHP GFDAESYTFT VPRRHLERGR VLGRVNFEDC 60 TGRQRTAYFS LDTRFKVGTD GVITVKRPLR FHNPQIHFLV YAWDSTYRKF STKVTLNTVG 120 HHHRPPPHQA SVSGIQAELL TFPNSSPGLR RQKRDWVIPP ISCPENEKGP FPKNLVQIKS 180 NKDKEGKVFY SITGQGADTP PVGVFIIERE TGWLKVTEPL DRERIATYTL FSHAVSSNGN 240 AVEDPMEILI TVTDQNDNKP EFTQEVFKGS VMEGALPGTS VMEVTATDAD DDVNTYNAAI 300 AYTILSQDPE LPDKNMFTIN RNTGVISVVT TGLDRESFPT YTLVVQAADL QGEGLSTTAT 360 AVITVTDTND NPPIFNPTTY KGQVPENEAN VVITTLKVTD ADAPNTPAWE AVYTILNDDG 420 GQFVVTTNPV NNDGILKTAK GLDFEAKQQY ILHVAVTNVV PFEVSLTTST ATVTVDVLDV 480 NEAPIFVPPE KRVEVSEDFG VGQEITSYTA QEPDTFMEQK ITYRIWRDTA NWLEINPDTG 540 AISTRAELDR EDFEHVKNST YTALIIATDN GSPVATGTGT LLLILSDVND NAPIPEPRTI 600 FFCERNPKPQ VINIIDADLP PNTSPFTAEL THGASANWTI QYNDPTQESI ILKPKMALEV 660 GDYKINLKLM DNQNKDQVTT LEVSVCDCEG AAGVCRKAQP VEAGLQIPAI LGILGGILAL 720 LILILLLLLF LRRRAVVKEP LLPPEDDTRD NVYYYDEEGG GEEDQDFDLS QLHRGLDARP 780 EVTRNDVAPT LMSVPRYLPR PANPDEIGNF IDENLKAADT DPTAPPYDSL LVFDYEGSGS 840 EAASLSSLNS SESDKDQDYD YLNEWGNRFK KLADMYGGGE DD 882 |
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.