Q8TET4 (GANC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Neutral alpha-glucosidase C
EC=3.2.1.20

Gene names

Name:

GANC

Organism

Homo sapiens (Human) [Reference proteome]

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

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.
Sequence caution	The sequence BAB84863.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

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

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	1	Nucleophile By similarity
	Active site	514	1	By similarity
	Active site	587	1	Proton donor By similarity
Natural variations
	Natural variant	11	1	L → V. Ref.1 Ref.2 Ref.4 Corresponds to variant rs8043515 [ dbSNP | Ensembl ].		VAR_018984
	Natural variant	44	1	Q → R. Ref.1 Ref.2 Ref.4 Corresponds to variant rs8024732 [ dbSNP | Ensembl ].		VAR_018985
	Natural variant	153	1	I → M. Ref.1		VAR_018986
	Natural variant	166	1	I → V. Corresponds to variant rs16973015 [ dbSNP | Ensembl ].		VAR_056237
	Natural variant	443	1	D → E. Ref.1 Corresponds to variant rs2578652 [ dbSNP | Ensembl ].		VAR_018987
	Natural variant	845	1	F → S. Ref.1 Corresponds to variant rs7181742 [ dbSNP | Ensembl ].		VAR_018988
	Natural variant	848	1	Q → R. Ref.1 Corresponds to variant rs7180279 [ dbSNP | Ensembl ].		VAR_018989
Experimental info
	Sequence conflict	180	1	T → A in AAO14993. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Q8TET4 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 7AA10E180DA7FDC2	FASTA	914	104,334
	10 20 30 40 50 60 MEAAVKEEIS LEDEAVDKNI FRDCNKIAFY RRQKQWLSKK STYQALLDSV 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

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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-11; ARG-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], VARIANTS VAL-11 AND ARG-44. Tissue: Spleen.
[3]	"Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C. Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS VAL-11 AND ARG-44. Tissue: Colon and Placenta.
[5]	Ben-Asher E. Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 146-914. Tissue: Erythroid cell.
+	Additional computationally mapped references.

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. AC012651 Genomic DNA. No translation available. AC022468 Genomic DNA. No translation available. BC059406 mRNA. Translation: AAH59406.1. BC093833 mRNA. Translation: AAH93833.1. AF525397 mRNA. Translation: AAO14993.1.
IPI	IPI00291827.
RefSeq	NP_937784.2. NM_198141.2.
UniGene	Hs.730806.
3D structure databases
ProteinModelPortal	Q8TET4.
SMR	Q8TET4. Positions 224-912.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000326227.
PTM databases
PhosphoSite	Q8TET4.
Polymorphism databases
DMDM	296439340.
Proteomic databases
PaxDb	Q8TET4.
PRIDE	Q8TET4.
Protocols and materials databases
DNASU	2595.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318010; ENSP00000326227; ENSG00000214013.
GeneID	2595.
KEGG	hsa:2595.
UCSC	uc001zpi.3. human.
Organism-specific databases
CTD	2595.
GeneCards	GC15P042566.
HGNC	HGNC:4139. GANC.
HPA	HPA016949.
MIM	104180. gene.
neXtProt	NX_Q8TET4.
PharmGKB	PA28552.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1501.
HOGENOM	HOG000115864.
HOVERGEN	HBG051683.
InParanoid	Q8TET4.
KO	K12317.
OMA	TLTQMGP.
OrthoDB	EOG40CHG7.
PhylomeDB	Q8TET4.
Gene expression databases
ArrayExpress	Q8TET4.
Bgee	Q8TET4.
Genevestigator	Q8TET4.
GermOnline	ENSG00000092529. Homo sapiens.
Family and domain databases
InterPro	IPR011013. Gal_mutarotase_SF_dom. IPR000322. Glyco_hydro_31. IPR025887. Glyco_hydro_31_N_dom. IPR017853. Glycoside_hydrolase_SF. [Graphical view]
PANTHER	PTHR22762. PTHR22762. 1 hit.
Pfam	PF13802. Gal_mutarotas_2. 1 hit. PF01055. Glyco_hydro_31. 1 hit. [Graphical view]
SUPFAM	SSF74650. Gal_mut_like. 1 hit. SSF51445. Glyco_hydro_cat. 1 hit.
PROSITE	PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL2520.
GenomeRNAi	2595.
NextBio	10263.
SOURCE	Search...

Entry information

Entry name

GANC_HUMAN

Accession

Primary (citable) accession number: Q8TET4
Secondary accession number(s): Q52LQ4 , Q8IWZ0, Q8IZM4, Q8IZM5

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 7, 2004
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 91 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.