Gene: EVC

Basic information

Tag Content
Uniprot ID H2RAB9
Entrez ID 461097
Genbank protein ID
Genbank nucleotide ID XM_009447305.2
Ensembl protein ID ENSPTRP00000053725
Ensembl nucleotide ID ENSPTRG00000015877
Gene name EvC ciliary complex subunit 1
Gene symbol EVC
Organism Pan troglodytes
NCBI taxa ID 9598
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD 60
DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI 120
YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS 180
ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF 240
KMCLLDLLPK KKSDDELYQK ILSKQENDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE 300
KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS 360
QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE 420
LLTQQHKAFW QEAERFSREF VQRGKDLVKA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQLT 480
ADPEKFLKAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL 540
QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSDRFRRQQW KVFQELLEQE QQVWMEECAL 600
SSVLQTHLRE DHKGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT 660
QMRLSGKKHL LQELREQHAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ 720
LQQRLLAEAQ EVGQLLQQHV ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY 780
VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT 840
AGGAPETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ 900
NFISELAALA RVPLAESKLF PAKRGLLEKP LRTKRKKPLP RERGDLGVPN DEDLASGDQT 960
SGSLSKRLSQ QESEAGDSGN 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