Search by BoMiProt ID - Bomi5553


Primary Information

BoMiProt ID Bomi5553
Protein Name Equilibrative nucleoside transporter 3/Solute carrier family 29 member 3
Organism Bos taurus
Uniprot IdA1A4N1
Milk FractionWhey
Ref Sequence Id NP_001073692.1
Aminoacid Length 474
Molecular Weight 51646
Fasta Sequence https://www.uniprot.org/uniprot/A1A4N1.fasta
Gene Name SLC29A3/ENT3
Gene Id 504503
Protein Existence Status reviewed

Secondary Information

Protein Function nucleoside transporter protein.mediates influx and efflux of nucleosides across the membrane
PTMs Glycosylation on Asn, Phosphorylation on Ser
Site(s) of PTM(s)

N-glycosylation, O-glycosylation,
Phosphorylation
>sp|A1A4N1|S29A3_BOVIN Equilibrative nucleoside transporter 3 OS=Bos taurus OX=9913 GN=SLC29A3 PE=2 SV=1 MAIISEDDFRHTSNSTYRTAS*21SS*23LRADQEALLEKLLDRPPPSLQRPEDRFNGTYIIFFSL GIGGLLPWNFFVTAQEYWIFKLSN*84CSSPAAGEEPKDSDILNYFESYLAVASTVPSVLCLA LNFLLVNRVPIRVRVLASLTVMLAIFIVMTVLVKVDTSSWTHSFFTITITCMAILSGTST IFNSSVFGMTGSFPMRNSQALISGGAMGGTLSAVASLVDLAVASDVTDSTLAFFLTADIF LALCIGLYLLLPRLDYARYYMKPVWPTVFSGEEQLPQDSPSPTSVAPGSSDPQTPPLGPI LKKTTGLGFCIIYLFFITSLIFPAICTNIESLSKGSGSPWSTKFFVPLTTFLLYNFADLC GRQVTAWIQVPGPRSKALPGLALLRTCFVPLFVFCNYQPRGHLHTVLFQSDVYPVLFTSL LGLSNGYLSTLALIYGPKIVPRELAEATGVVMTFYMGLGLVLGSACSALLVHLI
Predicted Disorder Regions (1-22), (32-44) , (271-292)
DisProt Annotation
TM Helix Prediction 11TMHs ; (54-72), (106-128), (135-153), (165-187), (200-218), (230-252), (305-327), (339-357), (377-395), (414-436) & (449-471)
Additional Comments mutations in this gene causees H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis.
Bibliography Noavar S, Behroozi S, Tatarcheh T, Parvini F, Foroutan M, Fahimi H. A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature. BMC Med Genet. 2019 Aug 29;20(1):147. doi: 10.1186/s12881-019-0879-7. PMID: 31464584; PMCID: PMC6716938.