LOCUS NP_001009860 669 aa linear MAM 12-NOV-2023
DEFINITION beta-galactosidase precursor [Felis catus].
ACCESSION NP_001009860
VERSION NP_001009860.1
DBSOURCE REFSEQ: accession NM_001009860.1
KEYWORDS RefSeq.
SOURCE Felis catus (domestic cat)
ORGANISM Felis catus
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Laurasiatheria; Carnivora; Feliformia; Felidae;
Felinae; Felis.
REFERENCE 1 (residues 1 to 669)
AUTHORS Uddin MM, Hossain MA, Rahman MM, Chowdhury MA, Tanimoto T, Yabuki
A, Mizukami K, Chang HS and Yamato O.
TITLE Identification of Bangladeshi domestic cats with GM1 gangliosidosis
caused by the c.1448G>C mutation of the feline GLB1 gene: case
study
JOURNAL J Vet Med Sci 75 (3), 395-397 (2013)
PUBMED 23123943
REMARK GeneRIF: The present study found the homozygous c.1448G>C mutation
of the GLB1 gene in 2 apparent littermate native kittens in
Bangladesh that were exhibiting neurological signs of GM1
gangliosidosis.
REFERENCE 2 (residues 1 to 669)
AUTHORS Uddin MM, Tanimoto T, Yabuki A, Kotani T, Kuwamura M, Chang HS and
Yamato O.
TITLE Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan
in the 1960s
JOURNAL J Feline Med Surg 14 (12), 900-902 (2012)
PUBMED 22772479
REMARK GeneRIF: The mutation was confirmed using DNA extracted from stored
paraffin-embedded brain tissue by a direct sequencing method and a
polymerase chain reaction-restriction fragment length polymorphism
assay
REFERENCE 3 (residues 1 to 669)
AUTHORS Martin DR, Rigat BA, Foureman P, Varadarajan GS, Hwang M, Krum BK,
Smith BF, Callahan JW, Mahuran DJ and Baker HJ.
TITLE Molecular consequences of the pathogenic mutation in feline GM1
gangliosidosis
JOURNAL Mol Genet Metab 94 (2), 212-221 (2008)
PUBMED 18353697
REMARK GeneRIF: Mutation responsible for feline G(M1) gangliosidosis was
identified in beta-galactosidase resulting in an amino acid
substitution at arginine 483, known to cause G(M1) gangliosidosis
in humans.
COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final
NCBI review. The reference sequence was derived from AF006749.1.
##Evidence-Data-START##
Transcript exon combination :: AF006749.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..669
/organism="Felis catus"
/db_xref="taxon:9685"
/chromosome="C2"
/map="C2"
Protein 1..669
/product="beta-galactosidase precursor"
/EC_number="3.2.1.23"
/note="lysosomal beta-galactosidase; lactase; acid
beta-galactosidase"
/calculated_mol_wt=72757
sig_peptide 1..24
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
/calculated_mol_wt=2491
Site 27
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
mat_peptide 30..669
/product="Beta-galactosidase. /id=PRO_0000012184"
/note="propagated from UniProtKB/Swiss-Prot (O19015.1)"
/calculated_mol_wt=72215
Region 41..356
/region_name="Glyco_hydro_35"
/note="Glycosyl hydrolases family 35; pfam01301"
/db_xref="CDD:396048"
Site 248
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
Site 465
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
Site 499
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
Site 547
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
Region <553..621
/region_name="BetaGal_dom4_5"
/note="Beta-galactosidase jelly roll domain; pfam13364"
/db_xref="CDD:433148"
Site 557
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O19015.1)"
Region 649..669
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (O19015.1)"
CDS 1..669
/gene="GLB1"
/gene_synonym="BGAL"
/coded_by="NM_001009860.1:23..2032"
/db_xref="GeneID:493927"
/db_xref="VGNC:VGNC:97179"
ORIGIN
1 mdfpgaarll slllvplllg parglrnasq rtfkidyghn rflkdgqpfr yisgsihyfr
61 vprfywkdrl lkmkmaglna iqtyvpwnfh epqpgqyqfs gehdveyflk lahelgllvi
121 lrpgpyicae wdmgglpawl llkesiilrs sdpdylaavd kwlgvllpkm kpllyqnggp
181 iitvqveney gsyftcdydy lrflqrrfrd hlggdvllft tdgahekflq cgalqgiyat
241 vdfgpdanit aafqiqrkse prgplvnsef ytgwldhwgq phsrvrtevv asslhdvlah
301 ganvnlymfi ggtnfaywng anipyqpqpt sydydaplse agdltdkyfa lrdvirkfek
361 vpegfippst pkfaygkval qklktvedal nvlcpagpik slypltfiqv kqyfgfvlyr
421 ttlpqdcsnp tplssplngv rdrayvavdg vpqgvlersy vitlnitgqa gatldllven
481 mgrvnygryi ndfkglisnl tlgssvltdw mifpldteda vrshlggwhg rnhgrqdnka
541 fahhssnytl pafyagnfsi psgipdlpqd tfiqfsgwtk gqvwingfnl grywpgrgpq
601 vtlfvprhil vtsapntimv lelerapcdd ngpelctvef vdrplisatp tsshplpdls
661 drdsgwdrv
//
