ID   GANC_HUMAN              Reviewed;         914 AA.
AC   Q8TET4; Q52LQ4; Q8IWZ0; Q8IZM4; Q8IZM5;
DT   07-JUN-2004, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 3.
DT   27-MAR-2024, entry version 160.
DE   RecName: Full=Neutral alpha-glucosidase C;
DE            EC=3.2.1.20;
GN   Name=GANC;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-11; ARG-44; MET-153; GLU-443;
RP   SER-845 AND ARG-848, AND FUNCTION.
RC   TISSUE=Lymphoid tissue;
RX   PubMed=12370436; DOI=10.1073/pnas.202383599;
RA   Hirschhorn R., Huie M.L., Kasper J.S.;
RT   "Computer assisted cloning of human neutral alpha glucosidase C (GANC): a
RT   new paralog in the glycosyl hydrolase gene family 31.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:13642-13646(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-11 AND ARG-44.
RC   TISSUE=Spleen;
RA   Ohara O., Nagase T., Kikuno R., Okumura K.;
RT   "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL   Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16572171; DOI=10.1038/nature04601;
RA   Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA   Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA   FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA   Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA   Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA   DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA   Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA   Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA   Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA   O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA   Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA   Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT   "Analysis of the DNA sequence and duplication history of human chromosome
RT   15.";
RL   Nature 440:671-675(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-11 AND ARG-44.
RC   TISSUE=Colon, and Placenta;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 146-914.
RC   TISSUE=Erythroid cell;
RA   Ben-Asher E.;
RL   Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: Has alpha-glucosidase activity.
CC       {ECO:0000269|PubMed:12370436}.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-
CC         glucose residues with release of alpha-D-glucose.; EC=3.2.1.20;
CC   -!- SIMILARITY: Belongs to the glycosyl hydrolase 31 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB84863.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AF545044; AAN74755.1; -; mRNA.
DR   EMBL; AF545045; AAN74756.1; -; mRNA.
DR   EMBL; AF545046; AAN74757.1; -; mRNA.
DR   EMBL; AK074037; BAB84863.1; ALT_INIT; mRNA.
DR   EMBL; AC012651; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC022468; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC059406; AAH59406.1; -; mRNA.
DR   EMBL; BC093833; AAH93833.1; -; mRNA.
DR   EMBL; AF525397; AAO14993.1; -; mRNA.
DR   CCDS; CCDS10084.1; -.
DR   RefSeq; NP_937784.2; NM_198141.2.
DR   AlphaFoldDB; Q8TET4; -.
DR   SMR; Q8TET4; -.
DR   BioGRID; 108866; 5.
DR   IntAct; Q8TET4; 2.
DR   STRING; 9606.ENSP00000326227; -.
DR   BindingDB; Q8TET4; -.
DR   ChEMBL; CHEMBL2520; -.
DR   DrugBank; DB00491; Miglitol.
DR   CAZy; GH31; Glycoside Hydrolase Family 31.
DR   GlyGen; Q8TET4; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8TET4; -.
DR   PhosphoSitePlus; Q8TET4; -.
DR   BioMuta; GANC; -.
DR   DMDM; 296439340; -.
DR   EPD; Q8TET4; -.
DR   MassIVE; Q8TET4; -.
DR   MaxQB; Q8TET4; -.
DR   PaxDb; 9606-ENSP00000326227; -.
DR   PeptideAtlas; Q8TET4; -.
DR   ProteomicsDB; 74496; -.
DR   Pumba; Q8TET4; -.
DR   Antibodypedia; 1713; 136 antibodies from 22 providers.
DR   DNASU; 2595; -.
DR   Ensembl; ENST00000318010.13; ENSP00000326227.8; ENSG00000214013.10.
DR   GeneID; 2595; -.
DR   KEGG; hsa:2595; -.
DR   MANE-Select; ENST00000318010.13; ENSP00000326227.8; NM_198141.3; NP_937784.2.
DR   UCSC; uc001zpi.4; human.
DR   AGR; HGNC:4139; -.
DR   CTD; 2595; -.
DR   DisGeNET; 2595; -.
DR   GeneCards; GANC; -.
DR   HGNC; HGNC:4139; GANC.
DR   HPA; ENSG00000214013; Low tissue specificity.
DR   MIM; 104180; gene.
DR   neXtProt; NX_Q8TET4; -.
DR   OpenTargets; ENSG00000214013; -.
DR   PharmGKB; PA28552; -.
DR   VEuPathDB; HostDB:ENSG00000214013; -.
DR   eggNOG; KOG1066; Eukaryota.
DR   GeneTree; ENSGT00940000159230; -.
DR   HOGENOM; CLU_000631_7_0_1; -.
DR   InParanoid; Q8TET4; -.
DR   OMA; SNEIWYD; -.
DR   OrthoDB; 5480935at2759; -.
DR   PhylomeDB; Q8TET4; -.
DR   TreeFam; TF300337; -.
DR   PathwayCommons; Q8TET4; -.
DR   SignaLink; Q8TET4; -.
DR   BioGRID-ORCS; 2595; 7 hits in 1161 CRISPR screens.
DR   ChiTaRS; GANC; human.
DR   GeneWiki; GANC; -.
DR   GenomeRNAi; 2595; -.
DR   Pharos; Q8TET4; Tchem.
DR   PRO; PR:Q8TET4; -.
DR   Proteomes; UP000005640; Chromosome 15.
DR   RNAct; Q8TET4; Protein.
DR   Bgee; ENSG00000214013; Expressed in sural nerve and 129 other cell types or tissues.
DR   ExpressionAtlas; Q8TET4; baseline and differential.
DR   GO; GO:0004558; F:alpha-1,4-glucosidase activity; IBA:GO_Central.
DR   GO; GO:0030246; F:carbohydrate binding; IEA:InterPro.
DR   GO; GO:0032450; F:maltose alpha-glucosidase activity; IEA:UniProtKB-EC.
DR   GO; GO:0006491; P:N-glycan processing; IBA:GO_Central.
DR   CDD; cd06603; GH31_GANC_GANAB_alpha; 1.
DR   CDD; cd14752; GH31_N; 1.
DR   Gene3D; 3.20.20.80; Glycosidases; 2.
DR   Gene3D; 2.60.40.1760; glycosyl hydrolase (family 31); 1.
DR   Gene3D; 2.60.40.1180; Golgi alpha-mannosidase II; 2.
DR   InterPro; IPR011013; Gal_mutarotase_sf_dom.
DR   InterPro; IPR030458; Glyco_hydro_31_AS.
DR   InterPro; IPR048395; Glyco_hydro_31_C.
DR   InterPro; IPR025887; Glyco_hydro_31_N_dom.
DR   InterPro; IPR000322; Glyco_hydro_31_TIM.
DR   InterPro; IPR013780; Glyco_hydro_b.
DR   InterPro; IPR017853; Glycoside_hydrolase_SF.
DR   PANTHER; PTHR22762; ALPHA-GLUCOSIDASE; 1.
DR   PANTHER; PTHR22762:SF60; NEUTRAL ALPHA-GLUCOSIDASE C; 1.
DR   Pfam; PF13802; Gal_mutarotas_2; 1.
DR   Pfam; PF01055; Glyco_hydro_31_2nd; 1.
DR   Pfam; PF21365; Glyco_hydro_31_3rd; 1.
DR   SUPFAM; SSF51445; (Trans)glycosidases; 1.
DR   SUPFAM; SSF74650; Galactose mutarotase-like; 1.
DR   SUPFAM; SSF51011; Glycosyl hydrolase domain; 1.
DR   PROSITE; PS00129; GLYCOSYL_HYDROL_F31_1; 1.
DR   Genevisible; Q8TET4; HS.
PE   2: Evidence at transcript level;
KW   Glycosidase; Hydrolase; Reference proteome.
FT   CHAIN           1..914
FT                   /note="Neutral alpha-glucosidase C"
FT                   /id="PRO_0000185364"
FT   ACT_SITE        511
FT                   /note="Nucleophile"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU10066"
FT   ACT_SITE        514
FT                   /evidence="ECO:0000250"
FT   ACT_SITE        587
FT                   /note="Proton donor"
FT                   /evidence="ECO:0000250"
FT   VARIANT         11
FT                   /note="L -> V (in dbSNP:rs8043515)"
FT                   /evidence="ECO:0000269|PubMed:12370436,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT                   /id="VAR_018984"
FT   VARIANT         44
FT                   /note="Q -> R (in dbSNP:rs8024732)"
FT                   /evidence="ECO:0000269|PubMed:12370436,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT                   /id="VAR_018985"
FT   VARIANT         153
FT                   /note="I -> M (in dbSNP:rs75876980)"
FT                   /evidence="ECO:0000269|PubMed:12370436"
FT                   /id="VAR_018986"
FT   VARIANT         166
FT                   /note="I -> V (in dbSNP:rs16973015)"
FT                   /id="VAR_056237"
FT   VARIANT         443
FT                   /note="D -> E (in dbSNP:rs2578652)"
FT                   /evidence="ECO:0000269|PubMed:12370436"
FT                   /id="VAR_018987"
FT   VARIANT         845
FT                   /note="F -> S (in dbSNP:rs7181742)"
FT                   /evidence="ECO:0000269|PubMed:12370436"
FT                   /id="VAR_018988"
FT   VARIANT         848
FT                   /note="Q -> R (in dbSNP:rs7180279)"
FT                   /evidence="ECO:0000269|PubMed:12370436"
FT                   /id="VAR_018989"
FT   CONFLICT        180
FT                   /note="T -> A (in Ref. 5; AAO14993)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   914 AA;  104334 MW;  7AA10E180DA7FDC2 CRC64;
     MEAAVKEEIS LEDEAVDKNI FRDCNKIAFY RRQKQWLSKK STYQALLDSV TTDEDSTRFQ
     IINEASKVPL LAEIYGIEGN IFRLKINEET PLKPRFEVPD VLTSKPSTVR LISCSGDTGS
     LILADGKGDL KCHITANPFK VDLVSEEEVV ISINSLGQLY FEHLQILHKQ RAAKENEEET
     SVDTSQENQE DLGLWEEKFG KFVDIKANGP SSIGLDFSLH GFEHLYGIPQ HAESHQLKNT
     GDGDAYRLYN LDVYGYQIYD KMGIYGSVPY LLAHKLGRTI GIFWLNASET LVEINTEPAV
     EYTLTQMGPV AAKQKVRSRT HVHWMSESGI IDVFLLTGPT PSDVFKQYSH LTGTQAMPPL
     FSLGYHQCRW NYEDEQDVKA VDAGFDEHDI PYDAMWLDIE HTEGKRYFTW DKNRFPNPKR
     MQELLRSKKR KLVVISDPHI KIDPDYSVYV KAKDQGFFVK NQEGEDFEGV CWPGLSSYLD
     FTNPKVREWY SSLFAFPVYQ GSTDILFLWN DMNEPSVFRG PEQTMQKNAI HHGNWEHREL
     HNIYGFYHQM ATAEGLIKRS KGKERPFVLT RSFFAGSQKY GAVWTGDNTA EWSNLKISIP
     MLLTLSITGI SFCGADIGGF IGNPETELLV RWYQAGAYQP FFRGHATMNT KRREPWLFGE
     EHTRLIREAI RERYGLLPYW YSLFYHAHVA SQPVMRPLWV EFPDELKTFD MEDEYMLGSA
     LLVHPVTEPK ATTVDVFLPG SNEVWYDYKT FAHWEGGCTV KIPVALDTIP VFQRGGSVIP
     IKTTVGKSTG WMTESSYGLR VALSTKGSSV GELYLDDGHS FQYLHQKQFL HRKFSFCSSV
     LINSFADQRG HYPSKCVVEK ILVLGFRKEP SSVTTHSSDG KDQPVAFTYC AKTSILSLEK
     LSLNIATDWE VRII
//