TM218_DANRE
ID TM218_DANRE Reviewed; 115 AA.
AC Q7SZ56;
DT 20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 82.
DE RecName: Full=Transmembrane protein 218;
GN Name=tmem218; ORFNames=zgc:63675;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP DISRUPTION PHENOTYPE.
RX PubMed=35137054; DOI=10.1093/hmg/ddac027;
RA Epting D., Decker E., Ott E., Eisenberger T., Bader I., Bachmann N.,
RA Bergmann C.;
RT "The ciliary transition zone protein TMEM218 synergistically interacts with
RT the NPHP module and its reduced dosage leads to a wide range of syndromic
RT ciliopathies.";
RL Hum. Mol. Genet. 0:0-0(2022).
CC -!- FUNCTION: May be involved in ciliary biogenesis or function.
CC {ECO:0000250|UniProtKB:Q9CQ44}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9CQ44}. Note=Localizes at the transition zone,
CC a region between the basal body and the ciliary axoneme.
CC {ECO:0000250|UniProtKB:Q9CQ44}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown leads to the formation of
CC pronephric cysts and hydrocephalus, features consistent with a
CC ciliopathy. {ECO:0000269|PubMed:35137054}.
CC -!- SIMILARITY: Belongs to the TMEM218 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; BC054131; AAH54131.1; -; mRNA.
DR RefSeq; NP_956692.1; NM_200398.2.
DR AlphaFoldDB; Q7SZ56; -.
DR SMR; Q7SZ56; -.
DR STRING; 7955.ENSDARP00000028280; -.
DR PaxDb; Q7SZ56; -.
DR Ensembl; ENSDART00000140988; ENSDARP00000122434; ENSDARG00000027129.
DR Ensembl; ENSDART00000185080; ENSDARP00000145554; ENSDARG00000027129.
DR GeneID; 393369; -.
DR KEGG; dre:393369; -.
DR CTD; 219854; -.
DR ZFIN; ZDB-GENE-040426-1232; tmem218.
DR eggNOG; ENOG502S2I1; Eukaryota.
DR GeneTree; ENSGT00390000016247; -.
DR HOGENOM; CLU_169774_0_0_1; -.
DR InParanoid; Q7SZ56; -.
DR OMA; PATEMKI; -.
DR PhylomeDB; Q7SZ56; -.
DR TreeFam; TF328597; -.
DR PRO; PR:Q7SZ56; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 10.
DR Bgee; ENSDARG00000027129; Expressed in testis and 20 other tissues.
DR ExpressionAtlas; Q7SZ56; baseline.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR026771; Tmem218.
DR PANTHER; PTHR31622; PTHR31622; 1.
PE 3: Inferred from homology;
KW Cell projection; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..115
FT /note="Transmembrane protein 218"
FT /id="PRO_0000359898"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 38..58
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 81..101
FT /note="Helical"
FT /evidence="ECO:0000255"
SQ SEQUENCE 115 AA; 12563 MW; B11BBD6464E6DE46 CRC64;
MADVVLGVGT GVFIITLIWI LTLALTIILS RATGPTKLGI IPVVLLALII TLVLVFFPRA
AEVPAPQRAA QIVDMFFIGR YVLLSLVSLV FLAALFMLLP LHFLEPIYAK PLRTH