Neutral alpha-glucosidase C - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q8TET4 (GANC_HUMAN)

Last modified January 19, 2010. Version 62. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
Neutral alpha-glucosidase C
EC=3.2.1.20

Gene names

Name:

GANC

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	914 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level.

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General annotation (Comments)

Function	Has alpha-glucosidase activity. Ref.1
Catalytic activity	Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.
Sequence similarities	Belongs to the glycosyl hydrolase 31 family.

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Ontologies

Keywords
Coding sequence diversity	Polymorphism
Molecular function	Glycosidase Hydrolase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro
Molecular function	alpha-glucosidase activity Ref.1 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 914

914

Neutral alpha-glucosidase C

PRO_0000185364

Sites

Active site

511

Nucleophile By similarity

Active site

514

By similarity

Active site

587

Proton donor By similarity

Natural variations

Natural variant

V → L: dbSNP rs8043515.

VAR_018984

Natural variant

R → Q: dbSNP rs8024732. Ref.1

VAR_018985

Natural variant

153

I → M

VAR_018986

Natural variant

166

I → V: dbSNP rs16973015.

VAR_056237

Natural variant

443

D → E: dbSNP rs2578652. Ref.1

VAR_018987

Natural variant

845

F → S: dbSNP rs7181742. Ref.1

VAR_018988

Natural variant

848

Q → R: dbSNP rs7180279. Ref.1

VAR_018989

Experimental info

Sequence conflict

180

T → A Ref.4

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Sequences

Sequence

Length

Mass (Da)

Tools

Q8TET4-1 [UniParc].

Last modified June 7, 2004. Version 2.
Checksum: CA0F532EBCF167FA
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FASTA

914

104,348

        10         20         30         40         50         60 
MEAAVKEEIS VEDEAVDKNI FRDCNKIAFY RRQKQWLSKK STYRALLDSV TTDEDSTRFQ 

        70         80         90        100        110        120 
IINEASKVPL LAEIYGIEGN IFRLKINEET PLKPRFEVPD VLTSKPSTVR LISCSGDTGS 

       130        140        150        160        170        180 
LILADGKGDL KCHITANPFK VDLVSEEEVV ISINSLGQLY FEHLQILHKQ RAAKENEEET 

       190        200        210        220        230        240 
SVDTSQENQE DLGLWEEKFG KFVDIKANGP SSIGLDFSLH GFEHLYGIPQ HAESHQLKNT 

       250        260        270        280        290        300 
GDGDAYRLYN LDVYGYQIYD KMGIYGSVPY LLAHKLGRTI GIFWLNASET LVEINTEPAV 

       310        320        330        340        350        360 
EYTLTQMGPV AAKQKVRSRT HVHWMSESGI IDVFLLTGPT PSDVFKQYSH LTGTQAMPPL 

       370        380        390        400        410        420 
FSLGYHQCRW NYEDEQDVKA VDAGFDEHDI PYDAMWLDIE HTEGKRYFTW DKNRFPNPKR 

       430        440        450        460        470        480 
MQELLRSKKR KLVVISDPHI KIDPDYSVYV KAKDQGFFVK NQEGEDFEGV CWPGLSSYLD 

       490        500        510        520        530        540 
FTNPKVREWY SSLFAFPVYQ GSTDILFLWN DMNEPSVFRG PEQTMQKNAI HHGNWEHREL 

       550        560        570        580        590        600 
HNIYGFYHQM ATAEGLIKRS KGKERPFVLT RSFFAGSQKY GAVWTGDNTA EWSNLKISIP 

       610        620        630        640        650        660 
MLLTLSITGI SFCGADIGGF IGNPETELLV RWYQAGAYQP FFRGHATMNT KRREPWLFGE 

       670        680        690        700        710        720 
EHTRLIREAI RERYGLLPYW YSLFYHAHVA SQPVMRPLWV EFPDELKTFD MEDEYMLGSA 

       730        740        750        760        770        780 
LLVHPVTEPK ATTVDVFLPG SNEVWYDYKT FAHWEGGCTV KIPVALDTIP VFQRGGSVIP 

       790        800        810        820        830        840 
IKTTVGKSTG WMTESSYGLR VALSTKGSSV GELYLDDGHS FQYLHQKQFL HRKFSFCSSV 

       850        860        870        880        890        900 
LINSFADQRG HYPSKCVVEK ILVLGFRKEP SSVTTHSSDG KDQPVAFTYC AKTSILSLEK 

       910 
LSLNIATDWE VRII

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Computer assisted cloning of human neutral alpha glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31." Hirschhorn R., Huie M.L., Kasper J.S. Proc. Natl. Acad. Sci. U.S.A. 99:13642-13646(2002) [PubMed: 12370436] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS GLN-44; MET-153; GLU-443; SER-845 AND ARG-848, FUNCTION. Tissue: Lymphoid tissue.
[2]	"The nucleotide sequence of a long cDNA clone isolated from human spleen." Ohara O., Nagase T., Kikuno R., Okumura K. Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Spleen.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Placenta.
[4]	Ben-Asher E. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 146-914. Tissue: Erythroid cell.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
EMBL GenBank DDBJ	AF545044 mRNA. Translation: AAN74755.1. AF545045 mRNA. Translation: AAN74756.1. AF545046 mRNA. Translation: AAN74757.1. AK074037 mRNA. Translation: BAB84863.1. Different initiation. BC059406 mRNA. Translation: AAH59406.1. BC093833 mRNA. Translation: AAH93833.1. AF525397 mRNA. Translation: AAO14993.1.
IPI	IPI00291827.
RefSeq	NP_937784.2.
UniGene	Hs.143261
3D structure databases
SMR	Q8TET4. Positions 70-912.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8TET4.
Proteomic databases
PRIDE	Q8TET4.
Genome annotation databases
Ensembl	ENST00000318010; ENSP00000326227; ENSG00000214013; Homo sapiens. [Genome view]
GeneID	2595.
KEGG	hsa:2595.
Organism-specific databases
CTD	2595.
GeneCards	GC15P040354.
HGNC	HGNC:4139. GANC.
HPA	HPA016949.
MIM	104180. gene.
PharmGKB	PA28552.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG315035.
HOVERGEN	Q8TET4.
InParanoid	Q8TET4.
PhylomeDB	Q8TET4.
Enzyme and pathway databases
BRENDA	3.2.1.20. 247.
Gene expression databases
ArrayExpress	Q8TET4.
Bgee	Q8TET4.
Genevestigator	Q8TET4.
GermOnline	ENSG00000092529. Homo sapiens.
Family and domain databases
InterPro	IPR000322. Glyco_hydro_31. IPR017853. Glyco_hydro_catalytic_core. [Graphical view]
PANTHER	PTHR22762. Glyco_hydro_31. 1 hit.
Pfam	PF01055. Glyco_hydro_31. 1 hit. [Graphical view]
PROSITE	PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	10263.
SOURCE	Search...

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Entry information

Entry name

GANC_HUMAN

Accession

Primary (citable) accession number: Q8TET4
Secondary accession number(s): Q52LQ4

Q8IZM5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 7, 2004
Last sequence update:	June 7, 2004
Last modified:	January 19, 2010
This is version 62 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.

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