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Q8TET4

- GANC_HUMAN

UniProt

Q8TET4 - GANC_HUMAN

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Protein
Neutral alpha-glucosidase C
Gene
GANC
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

Has alpha-glucosidase activity.1 Publication

Catalytic activityi

Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei511 – 5111Nucleophile By similarity
Active sitei514 – 5141 By similarity
Active sitei587 – 5871Proton donor By similarity

GO - Molecular functioni

  1. alpha-glucosidase activity Source: UniProtKB
  2. carbohydrate binding Source: InterPro
  3. maltose alpha-glucosidase activity Source: UniProtKB-EC

GO - Biological processi

  1. carbohydrate metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Glycosidase, Hydrolase

Names & Taxonomyi

Protein namesi
Recommended name:
Neutral alpha-glucosidase C (EC:3.2.1.20)
Gene namesi
Name:GANC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:4139. GANC.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28552.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 914914Neutral alpha-glucosidase C
PRO_0000185364Add
BLAST

Proteomic databases

MaxQBiQ8TET4.
PaxDbiQ8TET4.
PRIDEiQ8TET4.

PTM databases

PhosphoSiteiQ8TET4.

Expressioni

Gene expression databases

ArrayExpressiQ8TET4.
BgeeiQ8TET4.
GenevestigatoriQ8TET4.

Organism-specific databases

HPAiHPA016949.

Interactioni

Protein-protein interaction databases

BioGridi108866. 1 interaction.
STRINGi9606.ENSP00000326227.

Structurei

3D structure databases

ProteinModelPortaliQ8TET4.
SMRiQ8TET4. Positions 224-868.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1501.
HOGENOMiHOG000115864.
HOVERGENiHBG051683.
InParanoidiQ8TET4.
KOiK12317.
OMAiLKCHITA.
OrthoDBiEOG7VQJDS.
PhylomeDBiQ8TET4.
TreeFamiTF300337.

Family and domain databases

InterProiIPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PfamiPF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEiPS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8TET4-1 [UniParc]FASTAAdd to Basket

« Hide

MEAAVKEEIS LEDEAVDKNI FRDCNKIAFY RRQKQWLSKK STYQALLDSV    50
TTDEDSTRFQ IINEASKVPL LAEIYGIEGN IFRLKINEET PLKPRFEVPD 100
VLTSKPSTVR LISCSGDTGS LILADGKGDL KCHITANPFK VDLVSEEEVV 150
ISINSLGQLY FEHLQILHKQ RAAKENEEET SVDTSQENQE DLGLWEEKFG 200
KFVDIKANGP SSIGLDFSLH GFEHLYGIPQ HAESHQLKNT GDGDAYRLYN 250
LDVYGYQIYD KMGIYGSVPY LLAHKLGRTI GIFWLNASET LVEINTEPAV 300
EYTLTQMGPV AAKQKVRSRT HVHWMSESGI IDVFLLTGPT PSDVFKQYSH 350
LTGTQAMPPL FSLGYHQCRW NYEDEQDVKA VDAGFDEHDI PYDAMWLDIE 400
HTEGKRYFTW DKNRFPNPKR MQELLRSKKR KLVVISDPHI KIDPDYSVYV 450
KAKDQGFFVK NQEGEDFEGV CWPGLSSYLD FTNPKVREWY SSLFAFPVYQ 500
GSTDILFLWN DMNEPSVFRG PEQTMQKNAI HHGNWEHREL HNIYGFYHQM 550
ATAEGLIKRS KGKERPFVLT RSFFAGSQKY GAVWTGDNTA EWSNLKISIP 600
MLLTLSITGI SFCGADIGGF IGNPETELLV RWYQAGAYQP FFRGHATMNT 650
KRREPWLFGE EHTRLIREAI RERYGLLPYW YSLFYHAHVA SQPVMRPLWV 700
EFPDELKTFD MEDEYMLGSA LLVHPVTEPK ATTVDVFLPG SNEVWYDYKT 750
FAHWEGGCTV KIPVALDTIP VFQRGGSVIP IKTTVGKSTG WMTESSYGLR 800
VALSTKGSSV GELYLDDGHS FQYLHQKQFL HRKFSFCSSV LINSFADQRG 850
HYPSKCVVEK ILVLGFRKEP SSVTTHSSDG KDQPVAFTYC AKTSILSLEK 900
LSLNIATDWE VRII 914
Length:914
Mass (Da):104,334
Last modified:May 18, 2010 - v3
Checksum:i7AA10E180DA7FDC2
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → V.3 Publications
Corresponds to variant rs8043515 [ dbSNP | Ensembl ].
VAR_018984
Natural varianti44 – 441Q → R.3 Publications
Corresponds to variant rs8024732 [ dbSNP | Ensembl ].
VAR_018985
Natural varianti153 – 1531I → M.1 Publication
Corresponds to variant rs75876980 [ dbSNP | Ensembl ].
VAR_018986
Natural varianti166 – 1661I → V.
Corresponds to variant rs16973015 [ dbSNP | Ensembl ].
VAR_056237
Natural varianti443 – 4431D → E.1 Publication
Corresponds to variant rs2578652 [ dbSNP | Ensembl ].
VAR_018987
Natural varianti845 – 8451F → S.1 Publication
Corresponds to variant rs7181742 [ dbSNP | Ensembl ].
VAR_018988
Natural varianti848 – 8481Q → R.1 Publication
Corresponds to variant rs7180279 [ dbSNP | Ensembl ].
VAR_018989

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti180 – 1801T → A in AAO14993. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS10084.1.
RefSeqiNP_937784.2. NM_198141.2.
UniGeneiHs.730806.

Genome annotation databases

EnsembliENST00000318010; ENSP00000326227; ENSG00000214013.
GeneIDi2595.
KEGGihsa:2595.
UCSCiuc001zpi.3. human.

Polymorphism databases

DMDMi296439340.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS10084.1.
RefSeqi NP_937784.2. NM_198141.2.
UniGenei Hs.730806.

3D structure databases

ProteinModelPortali Q8TET4.
SMRi Q8TET4. Positions 224-868.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108866. 1 interaction.
STRINGi 9606.ENSP00000326227.

Chemistry

ChEMBLi CHEMBL2520.

PTM databases

PhosphoSitei Q8TET4.

Polymorphism databases

DMDMi 296439340.

Proteomic databases

MaxQBi Q8TET4.
PaxDbi Q8TET4.
PRIDEi Q8TET4.

Protocols and materials databases

DNASUi 2595.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318010 ; ENSP00000326227 ; ENSG00000214013 .
GeneIDi 2595.
KEGGi hsa:2595.
UCSCi uc001zpi.3. human.

Organism-specific databases

CTDi 2595.
GeneCardsi GC15P042566.
HGNCi HGNC:4139. GANC.
HPAi HPA016949.
MIMi 104180. gene.
neXtProti NX_Q8TET4.
PharmGKBi PA28552.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1501.
HOGENOMi HOG000115864.
HOVERGENi HBG051683.
InParanoidi Q8TET4.
KOi K12317.
OMAi LKCHITA.
OrthoDBi EOG7VQJDS.
PhylomeDBi Q8TET4.
TreeFami TF300337.

Miscellaneous databases

GeneWikii GANC.
GenomeRNAii 2595.
NextBioi 10263.
PROi Q8TET4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TET4.
Bgeei Q8TET4.
Genevestigatori Q8TET4.

Family and domain databases

InterProi IPR011013. Gal_mutarotase_SF_dom.
IPR000322. Glyco_hydro_31.
IPR025887. Glyco_hydro_31_N_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view ]
Pfami PF13802. Gal_mutarotas_2. 1 hit.
PF01055. Glyco_hydro_31. 1 hit.
[Graphical view ]
SUPFAMi SSF51445. SSF51445. 1 hit.
SSF74650. SSF74650. 2 hits.
PROSITEi PS00129. GLYCOSYL_HYDROL_F31_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiGANC_HUMAN
AccessioniPrimary (citable) accession number: Q8TET4
Secondary accession number(s): Q52LQ4
, Q8IWZ0, Q8IZM4, Q8IZM5
Entry historyi
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 statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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