ALG1L_HUMAN
ID ALG1L_HUMAN Reviewed; 187 AA.
AC Q6GMV1; D3DNA5;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Putative glycosyltransferase ALG1-like;
DE EC=2.4.1.-;
GN Name=ALG1L;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASP-135.
RC TISSUE=Brain;
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).
CC -!- FUNCTION: Putative glycosyltransferase. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the glycosyltransferase group 1 family.
CC Glycosyltransferase 33 subfamily. {ECO:0000305}.
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DR EMBL; CH471052; EAW79378.1; -; Genomic_DNA.
DR EMBL; CH471052; EAW79380.1; -; Genomic_DNA.
DR EMBL; BC073816; AAH73816.1; -; mRNA.
DR RefSeq; NP_001015050.2; NM_001015050.2.
DR RefSeq; NP_001182152.1; NM_001195223.1.
DR AlphaFoldDB; Q6GMV1; -.
DR BioGRID; 128347; 9.
DR STRING; 9606.ENSP00000482705; -.
DR CAZy; GT33; Glycosyltransferase Family 33.
DR iPTMnet; Q6GMV1; -.
DR PhosphoSitePlus; Q6GMV1; -.
DR BioMuta; ALG1L; -.
DR DMDM; 269849540; -.
DR jPOST; Q6GMV1; -.
DR MassIVE; Q6GMV1; -.
DR MaxQB; Q6GMV1; -.
DR PaxDb; Q6GMV1; -.
DR PeptideAtlas; Q6GMV1; -.
DR PRIDE; Q6GMV1; -.
DR ProteomicsDB; 66303; -.
DR Antibodypedia; 52324; 8 antibodies from 6 providers.
DR DNASU; 200810; -.
DR GeneID; 200810; -.
DR UCSC; uc003eig.3; human.
DR CTD; 200810; -.
DR DisGeNET; 200810; -.
DR GeneCards; ALG1L; -.
DR HGNC; HGNC:33721; ALG1L.
DR HPA; ENSG00000189366; Tissue enhanced (epididymis, urinary bladder).
DR neXtProt; NX_Q6GMV1; -.
DR PharmGKB; PA165696816; -.
DR VEuPathDB; HostDB:ENSG00000189366; -.
DR eggNOG; KOG2941; Eukaryota.
DR HOGENOM; CLU_1447202_0_0_1; -.
DR InParanoid; Q6GMV1; -.
DR OrthoDB; 816895at2759; -.
DR PhylomeDB; Q6GMV1; -.
DR PathwayCommons; Q6GMV1; -.
DR BioGRID-ORCS; 200810; 637 hits in 997 CRISPR screens.
DR ChiTaRS; ALG1L; human.
DR GenomeRNAi; 200810; -.
DR Pharos; Q6GMV1; Tdark.
DR PRO; PR:Q6GMV1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q6GMV1; protein.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0000030; F:mannosyltransferase activity; IBA:GO_Central.
DR GO; GO:0006486; P:protein glycosylation; IBA:GO_Central.
DR InterPro; IPR026051; ALG1-like.
DR PANTHER; PTHR13036; PTHR13036; 1.
PE 2: Evidence at transcript level;
KW Glycosyltransferase; Reference proteome; Transferase.
FT CHAIN 1..187
FT /note="Putative glycosyltransferase ALG1-like"
FT /id="PRO_0000326037"
FT VARIANT 135
FT /note="N -> D (in dbSNP:rs3828357)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039962"
FT VARIANT 159
FT /note="I -> T (in dbSNP:rs3811679)"
FT /id="VAR_039963"
FT VARIANT 184
FT /note="G -> S (in dbSNP:rs3187686)"
FT /id="VAR_039964"
SQ SEQUENCE 187 AA; 21132 MW; D8346DBD88A66CCF CRC64;
MERSAFMELD AGSRLVMHLR EWPALLVSST GWTEFEQLTL DGHNLPSLVC VITGSVDLGV
CLHMSSSGLD LPMKVVDMFG CCLPVCAVNF KCLHELVKHE ENGLVFEDSE ELAALQMLFS
NFPDPAGKLN QFWKNLRESQ QLRWDESWVQ TVLPLVMDIQ LLGQRLKPRD PCCPSRSFFS
ESQGKPF
