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Q8TET4 (GANC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neutral alpha-glucosidase C

EC=3.2.1.20
Gene names
Name:GANC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length914 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 914914Neutral alpha-glucosidase C
PRO_0000185364

Sites

Active site5111Nucleophile By similarity
Active site5141 By similarity
Active site5871Proton donor By similarity

Natural variations

Natural variant111L → V. Ref.1 Ref.2 Ref.4
Corresponds to variant rs8043515 [ dbSNP | Ensembl ].
VAR_018984
Natural variant441Q → R. Ref.1 Ref.2 Ref.4
Corresponds to variant rs8024732 [ dbSNP | Ensembl ].
VAR_018985
Natural variant1531I → M. Ref.1
Corresponds to variant rs75876980 [ dbSNP | Ensembl ].
VAR_018986
Natural variant1661I → V.
Corresponds to variant rs16973015 [ dbSNP | Ensembl ].
VAR_056237
Natural variant4431D → E. Ref.1
Corresponds to variant rs2578652 [ dbSNP | Ensembl ].
VAR_018987
Natural variant8451F → S. Ref.1
Corresponds to variant rs7181742 [ dbSNP | Ensembl ].
VAR_018988
Natural variant8481Q → R. Ref.1
Corresponds to variant rs7180279 [ dbSNP | Ensembl ].
VAR_018989

Experimental info

Sequence conflict1801T → A in AAO14993. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8TET4 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 7AA10E180DA7FDC2

FASTA914104,334
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
CCDSCCDS10084.1.
RefSeqNP_937784.2. NM_198141.2.
UniGeneHs.730806.

3D structure databases

ProteinModelPortalQ8TET4.
SMRQ8TET4. Positions 224-868.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108866. 1 interaction.
STRING9606.ENSP00000326227.

Chemistry

ChEMBLCHEMBL2520.

PTM databases

PhosphoSiteQ8TET4.

Polymorphism databases

DMDM296439340.

Proteomic databases

MaxQBQ8TET4.
PaxDbQ8TET4.
PRIDEQ8TET4.

Protocols and materials databases

DNASU2595.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318010; ENSP00000326227; ENSG00000214013.
GeneID2595.
KEGGhsa:2595.
UCSCuc001zpi.3. human.

Organism-specific databases

CTD2595.
GeneCardsGC15P042566.
HGNCHGNC:4139. GANC.
HPAHPA016949.
MIM104180. gene.
neXtProtNX_Q8TET4.
PharmGKBPA28552.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1501.
HOGENOMHOG000115864.
HOVERGENHBG051683.
InParanoidQ8TET4.
KOK12317.
OMALKCHITA.
OrthoDBEOG7VQJDS.
PhylomeDBQ8TET4.
TreeFamTF300337.

Gene expression databases

ArrayExpressQ8TET4.
BgeeQ8TET4.
GenevestigatorQ8TET4.

Family and domain databases

InterProIPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view]
SUPFAMSSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGANC.
GenomeRNAi2595.
NextBio10263.
PROQ8TET4.
SOURCESearch...

Entry information

Entry nameGANC_HUMAN
AccessionPrimary (citable) accession number: Q8TET4
Secondary accession number(s): Q52LQ4 expand/collapse secondary AC list , Q8IWZ0, Q8IZM4, Q8IZM5
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 103 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM

Glycosyl hydrolases

Classification of glycosyl hydrolase families and list of entries