TM263_CHICK
ID TM263_CHICK Reviewed; 116 AA.
AC Q5ZLA9;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 1.
DT 03-AUG-2022, entry version 69.
DE RecName: Full=Transmembrane protein 263;
GN Name=TMEM263; ORFNames=RCJMB04_6o13;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=CB; TISSUE=Bursa of Fabricius;
RX PubMed=15642098; DOI=10.1186/gb-2004-6-1-r6;
RA Caldwell R.B., Kierzek A.M., Arakawa H., Bezzubov Y., Zaim J., Fiedler P.,
RA Kutter S., Blagodatski A., Kostovska D., Koter M., Plachy J., Carninci P.,
RA Hayashizaki Y., Buerstedde J.-M.;
RT "Full-length cDNAs from chicken bursal lymphocytes to facilitate gene
RT function analysis.";
RL Genome Biol. 6:R6.1-R6.9(2005).
RN [2]
RP VARIANT 59-TRP--ASP-116 DEL, AND PROBABLE INVOLVEMENT IN DWARFISM.
RX PubMed=29930570; DOI=10.3389/fgene.2018.00193;
RA Wu Z., Derks M.F.L., Dibbits B., Megens H.J., Groenen M.A.M.,
RA Crooijmans R.P.M.A.;
RT "A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of
RT Autosomal Dwarfism in Chicken.";
RL Front. Genet. 9:193-193(2018).
CC -!- FUNCTION: May be involved in the growth pathway.
CC {ECO:0000269|PubMed:29930570}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- DISEASE: Note=Defect in TMEM263 may be a one of the causes of autosomal
CC recessive dwarfism in Cornell K-strain white leghorns. A nonsense
CC mutation truncates the protein and probably cause a dysfunctional
CC protein. Autosomal dwarf chicken display small body stature by short
CC shank length, with 30-40% reduced adult body weight despite normal
CC hormonal concentration of GH and IGF1. {ECO:0000269|PubMed:29930570}.
CC -!- SIMILARITY: Belongs to the TMEM263 family. {ECO:0000305}.
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DR EMBL; AJ719825; CAG31484.1; -; mRNA.
DR RefSeq; NP_001006244.1; NM_001006244.1.
DR AlphaFoldDB; Q5ZLA9; -.
DR STRING; 9031.ENSGALP00000020600; -.
DR PaxDb; Q5ZLA9; -.
DR GeneID; 418068; -.
DR KEGG; gga:418068; -.
DR CTD; 90488; -.
DR VEuPathDB; HostDB:geneid_418068; -.
DR eggNOG; ENOG502S1YC; Eukaryota.
DR InParanoid; Q5ZLA9; -.
DR OrthoDB; 1600476at2759; -.
DR PhylomeDB; Q5ZLA9; -.
DR PRO; PR:Q5ZLA9; -.
DR Proteomes; UP000000539; Unplaced.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028153; UPF0444.
DR PANTHER; PTHR31443; PTHR31443; 1.
DR Pfam; PF15475; UPF0444; 1.
PE 3: Inferred from homology;
KW Dwarfism; Glycoprotein; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..116
FT /note="Transmembrane protein 263"
FT /id="PRO_0000263631"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 78..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 10..24
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 2
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 59..116
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:29930570"
SQ SEQUENCE 116 AA; 11712 MW; E5F177CE4FD90F83 CRC64;
MNQTDKSHQE VPSYLHDEPP EGSIKDHPQQ QPSMLSRVTG GIFSVTKGAV GATIGGVAWI
GGKSLEITKT AVTSVPSMGV GLVKGSVSAV AGGVTAVGSA VASKVPLTGK KKDKSD