Gene: EVC

Basic information

Tag Content
Uniprot ID A0A287B0J8
Entrez ID
Genbank protein ID HDB28257.1
Genbank nucleotide ID
Ensembl protein ID ENSSSCP00000049939
Ensembl nucleotide ID ENSSSCG00000032637
Gene name Ellis-van Creveld syndrome protein isoform 2
Gene symbol EVC
Organism Sus scrofa
NCBI taxa ID 9823
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MARDAATCGS DARLQLGRDA ARPVPALLVP AVLLGAALGL GLGLWLGCRA VRPRPRHQKD 60
DTQSLLQNLE SNVQTPPEAG SPPRRRKREA QTSKDEAALD ECRPPFNSNI TAFALKAKVV 120
YPINQKFRPL ADGSSNPSLH ETLKQAVLPN QPVEASPCSS LGSLSQAEKD DCSSSSSVPS 180
AASDDRILGR TFLGVRSFPE ALTCESVDLD LCILNLHLKD LLRLDEALRQ EKHVMFIQIL 240
KMCLLDLLPK KKSDDELYQK ILSKQRNNLE ELEKSLQVRL SNTEALGAGD SEDITLADVE 300
RKEREYSEQL IANMEAFWQQ MESIQHFLVD QFKCSSSKAR QLAMTLTERM IAAEGLLRDS 360
QDLHALDALE RTMGRVHMAK TIEFLKLQIQ EETKCRLAAI SRSLEQLAVE GTLSGRQKEE 420
LLTQQHKAFW EEVEHFNREF VQRGKDLVTA SLVRQAEEMT RLTLAQQEER GRLQAEMELT 480
EDPKGFLQAF HELLERQRLM QSDLEEEGDV GATQAVATLC QELYRSAMDT FQKFVDVLFL 540
QTLPRVTGLS QAECEYLKQE AQENAALQLG KSDRFRSQQW KLFQDLQEQE KQVWMEEHTL 600
STVLQTHLQD DHESIIHQVL DQLGGLSEES TQGILQGHEL LLCSALRRLA LRGSAITTLT 660
QMRLSGKKSL LQELREQHAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQMRLQ 720
LQQQLLAEAQ EVGQLLRQHT ERAVGQALLG HARNTASRSW ARDRDDFKRA LTEAATESIY 780
VTSAGIDRLV QAYYQQIGRA MQEHEERALQ HLKTLQGERT ENYKLRKKQD LGDPVSGAAM 840
AGGVQEASGP VHQRMLAQQT KFLAQLTVHQ RSRLHARKQE ARVMEQLEAQ LETQLQEAEQ 900
RFVTELAALA RVPLAESKAS SSQRGLSDKP LRTKRRKPAP RERGDPGGPK DDDPASGGPP 960
SGLLSKRLSQ QERDLGDGDN SKKMLKRRSN L 991

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 disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEVC611166A0A5F4C2C7Canis lupus familiarisPredictionMore>>
1:1 orthologEVC102189937A0A452FYH3Capra hircusPredictionMore>>
1:1 orthologEVC2121P57679CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologEvcD3YUJ0Mus musculusPredictionMore>>
1:1 orthologEVC461097H2RAB9Pan troglodytesPredictionMore>>
1:1 orthologEVCA0A287B0J8Sus scrofaPredictionMore>>
1:1 orthologEvc289712G3V706Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
GO:0016021 integral component of membrane
GO:0098797 plasma membrane protein complex
GO:0003416 endochondral bone growth
GO:0045880 positive regulation of smoothened signaling pathway
GO:0007224 smoothened signaling pathway

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR026582 Evc
IPR026501 Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term