Gene: Disp1

Basic information

Tag Content
Uniprot ID Q3TDN0; Q3UUL8; Q80ZZ8; Q8CGS3; Q8CIP6; Q8CIQ9; Q9CT62;
Entrez ID 68897
Genbank protein ID AAH59225.1; AAN08631.1; AAN52161.1; BAE23607.1; AAH43102.1; AAN64660.1; BAE41571.1; BAB23344.1;
Genbank nucleotide ID NM_001278220.1; NM_001278218.1; NM_001278219.1; NM_026866.3;
Ensembl protein ID ENSMUSP00000126742; ENSMUSP00000141747; ENSMUSP00000003035;
Ensembl nucleotide ID ENSMUSG00000030768
Gene name Protein dispatched homolog 1
Gene symbol Disp1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E13.0, E14.5
Data sources Manually collected
Reference 15576405; 15269168;
Functional description Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal. Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404).
Sequence
MAVISGSDSV LLSNGSISTS TSNPSPLSPS DGDLPAQHLG PRETPRTKAS PNGCLQLNGT 60
VKSSFLPLDN QRTPQTPTQC CHPCPYHHPV SSHSNHQECH PEAGLAASPA LASCRMQPHS 120
EYSASLCPNH SPVYQAAHCL QPSPSFCLHH PWPDHFQHQP VRQHLTIIRP SRPFKFPRSY 180
AALLADWPVV VLGMCTLLIV VCALVGVLVP ELPDFSDPLL GFEPRGTTIG QRLVTWNNMM 240
RNTGYKATLA NYPYKYAEEQ ARSHRDDRWS DDHHERERRE VDWNFQKDSF FCDVPSDGYS 300
RVVFASAGGE TLWNLPAIKS MCDVDNSRIR SHPQFSDLCQ RTTAVSCCPS WTLGNYIAIL 360
NNRSSCQKIV ERDVSHTLKL LRTCAKHYQN GTLGPDCWDK AARRKDQLKC TNVPRKCTKY 420
NAVYQILHYL VDKDFMTPKT ADYAVPALKY SMLFSPTEKG ESMMNIYLDN FENWNSSDGI 480
TTVTGIEFGI KHSLFQDYLL MDTVYPAIAI AIVLLIMCVY TKSMFITLMT MFAIISSLIV 540
SYFLYRVVFN FEFFPFMNLT ALIILVGIGA DDAFVLCDVW NYTKFDKPRA ETSEAVSVTL 600
QHAALSMFVT SFTTAAAFYA NYVSNITAIR CFGVYAGTAI LVNYVLMVTW LPAVIVLHER 660
YLLNIFTCFR KPQPQAYDKS CWAVLCQKCR RVLFAVSEAS RIFFEKVLPC IVIKFRYLWL 720
IWFLALTVGG AYIVCVNPKM KLPSLELSEF QVFRSSHPFE RYDAEFKKLF MFERVHHGEE 780
LHMPITVIWG VSPEDSGDPL NPKSKGELTL DSTFNIASPA SQAWILHFCQ KLRNQTFFHQ 840
TEQQDFTSCF IETFKQWMEN QDCDEPALYP CCSHCSFPYK QEVFELCIKK AIMELDRSTG 900
YHLNNKTPGP RFDINDTIRA VVLEFQSTFL FTLAYEKMQQ FYKEVDSWIS HELSSAPEGL 960
SRGWFVSNLE FYDLQDSLSD GTLIAMGLSV AVAFSVMLLT TWNIIISLYA IVSIAGTIFV 1020
TVGSLVLLGW ELNVLESVTI SVAVGLSVDF AVHYGVAYRL APDPDREGKV IFSLSRMGSA 1080
IAMAALTTFV AGAMMMPSTV LAYTQLGTFM MLVMCVSWAF ATFFFQCLCR CLGPQGTCGQ 1140
IPFPTKLQCS PFSHTLSARP GDRGPSKTHA ASAYSVDARG QKSQLEHEFY ELQPLASHSC 1200
TSSEKTTYEE PHTCSEFFNG QAKNLRMPVP AAYSSELTKS PSSEPGSALL QSCLEQDTVC 1260
HFSLNPRCNC RDAYTHLQYG LPEIHCQQMG DSLCHKCAST AGGFVQIQSS VAPLKASHQA 1320
AEGLLHPAQH MLPPGMQNSR PRNFFLHSVQ HFQAQENLGR TSTHSTDERL PRTAELSPPP 1380
SDSRSTESFQ RACCHPENNQ RRLCKSRDPG DTEGSGGTKS KVSGLPNQTD KEEKQVEPSL 1440
LQTDETVNSE HLNHNESNFT FSHLPGEAGC RSCPNSPQSC RSIMRSKCGT EDCQTPNLEA 1500
NVPAVPTHSD LSGESLLIKT L 1521

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 during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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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 orthologDISP1A0A452EVU7Capra hircusPredictionMore>>
1:1 orthologDISP184976Q96F81Homo sapiensPredictionMore>>
1:1 orthologDisp168897Q3TDN0CPOE13.0, E14.5Mus musculusPublicationMore>>
1:1 orthologDISP1457761A0A2I3SG78Pan troglodytesPredictionMore>>
1:1 orthologDISP1100350276G1SQY2Oryctolagus cuniculusPredictionMore>>
1:1 orthologDisp1289338D3ZWU2Rattus norvegicusPredictionMore>>
1:1 orthologdisp1619201F1QHY7Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:1904680 peptide transmembrane transporter activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0007225 patched ligand maturationIDA
GO:0007225 patched ligand maturationIMP
GO:0007368 determination of left/right symmetryIMP
GO:0009880 embryonic pattern specificationIMP
GO:0009953 dorsal/ventral pattern formationIMP
GO:0015833 peptide transportIDA
GO:0015833 peptide transportIMP
GO:0060539 diaphragm developmentISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0016021 integral component of membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0217 Developmental protein
KW-0325 Glycoprotein
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR003392 Ptc/Disp
IPR000731 SSD

PROSITE

PROSITE ID PROSITE Term
PS50156 SSD

Pfam

Pfam ID Pfam Term
PF02460 Patched