F5H241 (F5H241_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Glucosylceramidase Ensembl ENSP00000445560

Gene names

Name:

GBA Ensembl ENSP00000445560

Organism

Homo sapiens (Human) [Reference proteome] Ensembl ENSP00000445560

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	423 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Caution

The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. Ensembl ENSP00000445560

Ontologies

Keywords
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro lysosome organization Inferred from electronic annotation. Source: InterPro sphingolipid metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	lysosome Inferred from electronic annotation. Source: InterPro
Molecular_function	glucosylceramidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequences

	Sequence		Length	Mass (Da)
	F5H241 [UniParc]. Last modified June 28, 2011. Version 1. Checksum: 99FA1DFA4CFA94C9	FASTA	423	47,564
	10 20 30 40 50 60 MEFSSPSREE CPKPLSRVSI MAGSLTGLLL LQAVSWASGI GYNIIRVPMA SCDFSIRTYT 70 80 90 100 110 120 YADTPDDFQL HNFSLPEEDT KLKIPLIHRA LQLAQRPVSL LASPWTSPTW LKTNGAVNGK 130 140 150 160 170 180 GSLKGQPGDI YHQTWARYFV KFLDAYAEHK LQFWAVTAEN EPSAGLLSGY PFQCLGFTPE 190 200 210 220 230 240 HQRDFIARDL GPTLANSTHH NVRLLMLDDQ RLLLPHWAKV VLTDPEAAKY VHGIAVHWYL 250 260 270 280 290 300 DFLAPAKATL GETHRLFPNT MLFASEACVG SKFWEQSVRL GSWDRGMQYS HSIITNLLYH 310 320 330 340 350 360 VVGWTDWNLA LNPEGGPNWV RNFVDSPIIV DITKDTFYKQ PMFYHLGHFS KFIPEGSQRV 370 380 390 400 410 420 GLVASQKNDL DAVALMHPDG SAVVVVLNRS SKDVPLTIKD PAVGFLETIS PGYSIHTYLW RRQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S., Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C., Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M., Langford C.F., Pandian R.D., Porter K.M., Prigmore E. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	Ensembl Submitted (JUL-2011) to UniProtKB Cited for: IDENTIFICATION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL713999 Genomic DNA. No translation available.
IPI	IPI00845473.
3D structure databases
ProteinModelPortal	F5H241.
SMR	F5H241. Positions 29-423.
ModBase	Search...
Protein family/group databases
Allergome	8244. Hom s Glucocerebrosidase.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000536770; ENSP00000445560; ENSG00000177628.
UCSC	uc010pfw.2. human.
Organism-specific databases
HGNC	HGNC:4177. GBA.
GenAtlas	Search...
Gene expression databases
ArrayExpress	F5H241.
Bgee	F5H241.
Family and domain databases
Gene3D	2.60.40.1180. 1 hit. 3.20.20.80. 1 hit.
InterPro	IPR013780. Glyco_hydro_13_b. IPR001139. Glyco_hydro_30. IPR013781. Glyco_hydro_catalytic_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHER	PTHR11069. PTHR11069. 1 hit.
Pfam	PF02055. Glyco_hydro_30. 1 hit. [Graphical view]
PRINTS	PR00843. GLHYDRLASE30.
SUPFAM	SSF51445. Glyco_hydro_cat. 1 hit.
ProtoNet	Search...
Other
NextBio	35508341.

Entry information

Entry name

F5H241_HUMAN

Accession

Primary (citable) accession number: F5H241

Entry history

Integrated into UniProtKB/TrEMBL:	June 28, 2011
Last sequence update:	June 28, 2011
Last modified:	May 1, 2013
This is version 17 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.