F5H7P6 (F5H7P6_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Recommended name:
Non-lysosomal glucosylceramidase PIRNR PIRNR028944
Short name=NLGase PIRNR PIRNR028944
EC=3.2.1.45 PIRNR PIRNR028944

Gene names

Name:

GBA2 Ensembl ENSP00000442372

Organism

Homo sapiens (Human) [Reference proteome] Ensembl ENSP00000442372

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	933 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide By similarity. PIRNR PIRNR028944
Catalytic activity	D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. PIRNR PIRNR028944
Subcellular location	Cell membrane By similarity PIRNR PIRNR028944.
Sequence similarities	Belongs to the non-lysosomal glucosylceramidase family. PIRNR PIRNR028944
Caution	The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data. Ensembl ENSP00000442372

Ontologies

Keywords
Biological process	Lipid metabolism PIRNR PIRNR028944
Cellular component	Cell membrane PIRNR PIRNR028944 Membrane
Molecular function	Glycosidase PIRNR PIRNR028944 Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glucosylceramide catabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: InterPro plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	glucosylceramidase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequences

	Sequence		Length	Mass (Da)
	F5H7P6 [UniParc]. Last modified June 28, 2011. Version 1. Checksum: 3E450FB6994E4F04	FASTA	933	105,301
	10 20 30 40 50 60 MGTQDPGNMG TGVPASEQIS CAKEDPQVYC PEETGGTKDV QVTDCKSPED SRPPKETDCC 70 80 90 100 110 120 NPEDSGQLMV SYEGKAMGYQ VPPFGWRICL AHEFTEKRKP FQANNVSLSN MIKHIGMGLR 130 140 150 160 170 180 YLQWWYRKTH VEKKTPFIDM INSVPLRQIY GCPLGGIGGG TITRGWRGQF CRWQLNPGMY 190 200 210 220 230 240 QHRTVIADQP ICPLKFTVCL RREGQTVYQQ VLSLERPSVL RSWNWGLCGY FAFYHALYPR 250 260 270 280 290 300 AWTVYQLPGQ NVTLTCRQIT PILPHDYQDS SLPVGVFVWD VENEGDEALD VSIMFSMRNG 310 320 330 340 350 360 LGGGDDAPGG LWNEPFCLER SGETVRGLLL HHPTLPNPYT MAVAARVTAA TTVTHITAFD 370 380 390 400 410 420 PDSTGQQVWQ DLLQDGQLDS PTGQSTPTQK GVGIAGAVCV SSKLRPRGQC RLEFSLAWDM 430 440 450 460 470 480 PRIMFGAKGQ VHYRRYTRFF GQDGDAAPAL SHYALCRYAE WEERISAWQS PVLDDRSLPA 490 500 510 520 530 540 WYKSALFNEL YFLADGGTVW LEVLEDSLPE ELGRNMCHLR PTLRDYGRFG YLEGQEYRMY 550 560 570 580 590 600 NTYDVHFYAS FALIMLWPKL ELSLQYDMAL ATLREDLTRR RYLMSGVMAP VKRRNVIPHD 610 620 630 640 650 660 IGDPDDEPWL RVNAYLIHDT ADWKDLNLKF VLQVYRDYYL TGDQNFLKDM WPVCLAVMES 670 680 690 700 710 720 EMKFDKDHDG LIENGGYADQ TYDGWVTTGP SAYCGGLWLA AVAVMVQMAA LCGAQDIQDK 730 740 750 760 770 780 FSSILSRGQE AYERLLWNGR YYNYDSSSRP QSRSVMSDQC AGQWFLKACG LGEGDTEVFP 790 800 810 820 830 840 TQHVVRALQT IFELNVQAFA GGAMGAVNGM QPHGVPDKSS VQSDEVWVGV VYGLAATMIQ 850 860 870 880 890 900 EGLTWEGFQT AEGCYRTVWE RLGLAFQTPE AYCQQRVFRS LAYMRPLSIW AMQLALQQQQ 910 920 930 HKKASWPKVK QGTGLRTGPM FGPKEAMANL SPE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [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	AL133410 Genomic DNA. No translation available.
IPI	IPI00100668.
3D structure databases
ProteinModelPortal	F5H7P6.
ModBase	Search...
Proteomic databases
PRIDE	F5H7P6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000545786; ENSP00000442372; ENSG00000070610.
UCSC	uc011lpd.2. human.
Organism-specific databases
HGNC	HGNC:18986. GBA2.
GenAtlas	Search...
Phylogenomic databases
OMA	YQLPGQN.
Gene expression databases
ArrayExpress	F5H7P6.
Bgee	F5H7P6.
Family and domain databases
InterPro	IPR008928. 6-hairpin_glycosidase-like. IPR014551. Beta_glucosidase_GBA2-type. IPR024462. GBA2_N. IPR006775. Glucosylceramidase. [Graphical view]
Pfam	PF04685. DUF608. 1 hit. PF12215. GBA2_N. 1 hit. [Graphical view]
PIRSF	PIRSF028944. Beta_gluc_GBA2. 1 hit.
SUPFAM	SSF48208. Glyco_trans_6hp. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	GBA2. human.
NextBio	35509424.

Entry information

Entry name

F5H7P6_HUMAN

Accession

Primary (citable) accession number: F5H7P6

Entry history

Integrated into UniProtKB/TrEMBL:	June 28, 2011
Last sequence update:	June 28, 2011
Last modified:	April 3, 2013
This is version 13 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.