MANEL_HUMAN
ID MANEL_HUMAN Reviewed; 457 AA.
AC Q5VSG8; Q6DD86; Q6P497; Q8N5P8; Q96G55; Q96N42;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Glycoprotein endo-alpha-1,2-mannosidase-like protein;
DE EC=3.2.1.-;
GN Name=MANEAL;
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 MRNA] (ISOFORM 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 155-457 (ISOFORM 1).
RC TISSUE=Brain, Prostate, and Skin;
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 -!- SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250}; Single-
CC pass type II membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VSG8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VSG8-2; Sequence=VSP_024116, VSP_024117;
CC Name=3;
CC IsoId=Q5VSG8-3; Sequence=VSP_024118, VSP_024119;
CC -!- SIMILARITY: Belongs to the glycosyl hydrolase 99 family. {ECO:0000305}.
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DR EMBL; AK055996; BAB71068.1; -; mRNA.
DR EMBL; AL929472; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009952; AAH09952.2; -; mRNA.
DR EMBL; BC031903; AAH31903.1; -; mRNA.
DR EMBL; BC063587; AAH63587.1; -; mRNA.
DR EMBL; BC077730; AAH77730.1; -; mRNA.
DR CCDS; CCDS426.1; -. [Q5VSG8-2]
DR CCDS; CCDS44110.1; -. [Q5VSG8-1]
DR CCDS; CCDS44111.1; -. [Q5VSG8-3]
DR RefSeq; NP_001026910.1; NM_001031740.2. [Q5VSG8-3]
DR RefSeq; NP_001106954.1; NM_001113482.1. [Q5VSG8-1]
DR RefSeq; NP_689709.1; NM_152496.2. [Q5VSG8-2]
DR RefSeq; XP_011539090.1; XM_011540788.1. [Q5VSG8-2]
DR AlphaFoldDB; Q5VSG8; -.
DR SMR; Q5VSG8; -.
DR BioGRID; 127196; 34.
DR IntAct; Q5VSG8; 17.
DR STRING; 9606.ENSP00000362136; -.
DR CAZy; GH99; Glycoside Hydrolase Family 99.
DR GlyGen; Q5VSG8; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5VSG8; -.
DR PhosphoSitePlus; Q5VSG8; -.
DR BioMuta; MANEAL; -.
DR DMDM; 74746792; -.
DR EPD; Q5VSG8; -.
DR jPOST; Q5VSG8; -.
DR MassIVE; Q5VSG8; -.
DR MaxQB; Q5VSG8; -.
DR PaxDb; Q5VSG8; -.
DR PeptideAtlas; Q5VSG8; -.
DR PRIDE; Q5VSG8; -.
DR ProteomicsDB; 65261; -. [Q5VSG8-1]
DR ProteomicsDB; 65262; -. [Q5VSG8-2]
DR ProteomicsDB; 65263; -. [Q5VSG8-3]
DR Antibodypedia; 54337; 25 antibodies from 10 providers.
DR DNASU; 149175; -.
DR Ensembl; ENST00000329006.5; ENSP00000328770.5; ENSG00000185090.15. [Q5VSG8-2]
DR Ensembl; ENST00000373045.11; ENSP00000362136.6; ENSG00000185090.15. [Q5VSG8-1]
DR Ensembl; ENST00000397631.7; ENSP00000380755.3; ENSG00000185090.15. [Q5VSG8-3]
DR GeneID; 149175; -.
DR KEGG; hsa:149175; -.
DR MANE-Select; ENST00000373045.11; ENSP00000362136.6; NM_001113482.2; NP_001106954.1.
DR UCSC; uc001cbx.3; human. [Q5VSG8-1]
DR CTD; 149175; -.
DR DisGeNET; 149175; -.
DR GeneCards; MANEAL; -.
DR HGNC; HGNC:26452; MANEAL.
DR HPA; ENSG00000185090; Low tissue specificity.
DR neXtProt; NX_Q5VSG8; -.
DR OpenTargets; ENSG00000185090; -.
DR PharmGKB; PA142671481; -.
DR VEuPathDB; HostDB:ENSG00000185090; -.
DR eggNOG; ENOG502QPJV; Eukaryota.
DR GeneTree; ENSGT00390000016054; -.
DR HOGENOM; CLU_042710_1_1_1; -.
DR InParanoid; Q5VSG8; -.
DR OMA; VHWDHVM; -.
DR OrthoDB; 975667at2759; -.
DR PhylomeDB; Q5VSG8; -.
DR TreeFam; TF324051; -.
DR PathwayCommons; Q5VSG8; -.
DR SignaLink; Q5VSG8; -.
DR BioGRID-ORCS; 149175; 16 hits in 1079 CRISPR screens.
DR ChiTaRS; MANEAL; human.
DR GenomeRNAi; 149175; -.
DR Pharos; Q5VSG8; Tdark.
DR PRO; PR:Q5VSG8; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VSG8; protein.
DR Bgee; ENSG00000185090; Expressed in cortical plate and 127 other tissues.
DR ExpressionAtlas; Q5VSG8; baseline and differential.
DR Genevisible; Q5VSG8; HS.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0004559; F:alpha-mannosidase activity; IBA:GO_Central.
DR CDD; cd11574; GH99; 1.
DR InterPro; IPR026071; Glyco_Hydrolase_99.
DR PANTHER; PTHR13572; PTHR13572; 1.
DR Pfam; PF16317; Glyco_hydro_99; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Golgi apparatus; Hydrolase; Membrane;
KW Reference proteome; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..457
FT /note="Glycoprotein endo-alpha-1,2-mannosidase-like
FT protein"
FT /id="PRO_0000282320"
FT TOPO_DOM 1..8
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 9..29
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 30..457
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT REGION 46..93
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 61..91
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..222
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024116"
FT VAR_SEQ 223..246
FT /note="FHIQPYKGRDDITVHDNIKYIIDT -> MITGSPQMTWCPPFWTPPISTASR
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024117"
FT VAR_SEQ 247..250
FT /note="YGSH -> TGKL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024118"
FT VAR_SEQ 251..457
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024119"
SQ SEQUENCE 457 AA; 51317 MW; 1C7AA38C32FE1A5A CRC64;
MARRRRRACI ALFLVLLFAF GTLMGLRTLK APDGLPALGP GLELAPFERR PEGAPAPAAR
APAAPAAPPP PPPPPRTADP GGSPGPAPAE AEPAPVQSLR VYSDLHAFYY SWYGSPRREG
HYIHWDHVMV PHWDPKISAS YPRGRHSPPD DLGSSFYPEL GPYSSRDPEV LREHMTQLKE
AAIGVLVLSW YPPGMADDNG EPSDDLVPAI LDTAHQYSIQ VAFHIQPYKG RDDITVHDNI
KYIIDTYGSH GAFYRYKNSM GKSLPLFYIY DSYLTSPEAW AHLLTPNGPH SIRNTPYDGV
FIALLVEEGH THDILAAGFD GMYTYFASNG FSFGSSHQNW KAVKNFCDAN NLMFIPSVGP
GYIDTSIRPW NNHNTRNRVN GKYYETALQA ALTVRPEIVS ITSFNEWHEG TQIEKAIPKK
TPTRLYLDYL PHQPSLYLEL TRRWAEHFIK EKEQWLM
