LOCUS       NM_001004127            6510 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ALG11 alpha-1,2-mannosyltransferase (ALG11),
            transcript variant A, mRNA.
ACCESSION   NM_001004127 XM_495951
VERSION     NM_001004127.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 6510)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 6510)
  AUTHORS   Nishimura,Y., Shimono,N., Yoshimoto,T., Kamiguchi,H. and
            Nishikawa,Y.
  TITLE     Cloning and transcriptional expression of mouse mannosyltransferase
            IV/V cDNA, which is involved in the synthesis of lipid-linked
            oligosaccharides
  JOURNAL   Biosci Biotechnol Biochem 78 (3), 400-409 (2014)
   PUBMED   25036826
  REMARK    GeneRIF: Hence, we concluded that there is different
            transcriptional control mechanism between mALG11 and hALG11
REFERENCE   3  (bases 1 to 6510)
  AUTHORS   Thiel,C., Rind,N., Popovici,D., Hoffmann,G.F., Hanson,K.,
            Conway,R.L., Adamski,C.R., Butler,E., Scanlon,R., Lambert,M.,
            Apeshiotis,N., Thiels,C., Matthijs,G. and Korner,C.
  TITLE     Improved diagnostics lead to identification of three new patients
            with congenital disorder of glycosylation-Ip
  JOURNAL   Hum Mutat 33 (3), 485-487 (2012)
   PUBMED   22213132
  REMARK    GeneRIF: After identifying the congenital disorders of
            glycosylation-Ip index patient, study describe three more cases
            suffering from an ALG11 deficiency.
REFERENCE   4  (bases 1 to 6510)
  AUTHORS   Rind,N., Schmeiser,V., Thiel,C., Absmanner,B., Lubbehusen,J.,
            Hocks,J., Apeshiotis,N., Wilichowski,E., Lehle,L. and Korner,C.
  TITLE     A severe human metabolic disease caused by deficiency of the
            endoplasmatic mannosyltransferase hALG11 leads to congenital
            disorder of glycosylation-Ip
  JOURNAL   Hum Mol Genet 19 (8), 1413-1424 (2010)
   PUBMED   20080937
  REMARK    GeneRIF: Deficiency of the endoplasmatic mannosyltransferase hALG11
            leads to congenital disorder of glycosylation.
REFERENCE   5  (bases 1 to 6510)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   6  (bases 1 to 6510)
  AUTHORS   Rohozinski,J., Lamb,D.J. and Bishop,C.E.
  TITLE     UTP14c is a recently acquired retrogene associated with
            spermatogenesis and fertility in man
  JOURNAL   Biol Reprod 74 (4), 644-651 (2006)
   PUBMED   16354793
REFERENCE   7  (bases 1 to 6510)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC142998.1, AL139082.18 and
            AK025456.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001004127.2.
            
            Summary: This gene encodes a
            GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which
            is localized to the cytosolic side of the endoplasmic reticulum
            (ER) and catalyzes the transfer of the fourth and fifth mannose
            residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and
            Man4GlcNAc2-PP-dolichol resulting in the production of
            Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with
            congenital disorder of glycosylation type Ip (CDGIP). This gene
            overlaps but is distinct from the UTP14, U3 small nucleolar
            ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the
            GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has
            been identified on chromosome 19. [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (A) represents the longer
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.25155.1,
                                           SRR1803611.170960.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000521508.2/ ENSP00000430236.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-307               BC142998.1         11-317
            308-308             AL139082.18        42480-42480
            309-1656            BC142998.1         319-1666
            1657-2554           AK025456.1         1641-2538
            2555-6510           AL139082.18        48108-52063
FEATURES             Location/Qualifiers
     source          1..6510
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.3"
     gene            1..6510
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="ALG11 alpha-1,2-mannosyltransferase"
                     /db_xref="GeneID:440138"
                     /db_xref="HGNC:HGNC:32456"
                     /db_xref="MIM:613666"
     exon            1..65
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1500
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /EC_number="2.4.1.131"
                     /note="asparagine-linked glycosylation protein 11 homolog;
                     glycolipid 2-alpha-mannosyltransferase; asparagine-linked
                     glycosylation 11, alpha-1,2-mannosyltransferase homolog;
                     GDP-Man:Man(3)GlcNAc(2)-PP-dolichol
                     alpha-1,2-mannosyltransferase"
                     /codon_start=1
                     /product="GDP-Man:Man(3)GlcNAc(2)-PP-Dol
                     alpha-1,2-mannosyltransferase"
                     /protein_id="NP_001004127.2"
                     /db_xref="CCDS:CCDS31977.1"
                     /db_xref="GeneID:440138"
                     /db_xref="HGNC:HGNC:32456"
                     /db_xref="MIM:613666"
                     /translation="MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRL
                     LLQRKKKLVSTSKNGKNQMVIAFFHPYCNAGGGGERVLWCALRALQKKYPEAVYVVYT
                     GDVNVNGQQILEGAFRRFNIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLG
                     WEALMQCVPDVYIDSMGYAFTLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFN
                     NAAFITRNPFLSKVKLIYYYLFAFIYGLVGSCSDVVMVNSSWTLNHILSLWKVGNCTN
                     IVYPPCDVQTFLDIPLHEKKMTPGHLLVSVGQFRPEKNHPLQIRAFAKLLNKKMVESP
                     PSLKLVLIGGCRNKDDELRVNQLRRLSEDLGVQEYVEFKINIPFDELKNYLSEATIGL
                     HTMWNEHFGIGVVECMAAGTIILAHNSGGPKLDIVVPHEGDITGFLAESEEDYAETIA
                     HILSMSAEKRLQIRKSARASVSRFSDQEFEVTFLSSVEKLFK"
     exon            66..296
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /inference="alignment:Splign:2.1.0"
     exon            297..1228
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..6510
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      6469..6474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="hexamer: AAGAAA"
     regulatory      6479..6484
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="hexamer: AATAAA"
     polyA_site      6485
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="major polyA site"
     polyA_site      6510
                     /gene="ALG11"
                     /gene_synonym="CDG1P; GT8"
                     /note="major polyA site"
ORIGIN      
        1 gagttcgggg gtcggcggaa gatggcggcc ggcgaaagga gctggtgcct gtgcaagttg
       61 ttgaggtttt tttattcatt attcttccct gggctcattg tatgtggaac tttatgtgtg
      121 tgtttggtca ttgtcctttg gggaatcaga ctgctgctac agagaaagaa aaaattagtg
      181 tcaactagca aaaatgggaa aaatcaaatg gtgattgcat tttttcatcc atactgcaat
      241 gctggtggag gaggagaaag agttttatgg tgtgctttaa gagccctgca gaaaaagtat
      301 cctgaagcag tttatgttgt ttataccggc gatgttaatg tcaacggtca acagatacta
      361 gaaggtgctt tcagaagatt taacatcaga ttaattcacc cagtgcagtt tgttttttta
      421 aggaaacgct atcttgtgga agattcactg tatcctcact tcacactgct gggccaaagt
      481 ctaggatcca tttttcttgg ctgggaagct ctaatgcagt gtgttcctga tgtttacatt
      541 gattcaatgg gatacgcttt tacgcttcct ctgtttaagt atataggggg ttgccaagtt
      601 ggaagctatg ttcattatcc tactatcagc accgacatgc tctctgtagt gaagaatcaa
      661 aatattggat ttaataatgc agccttcatt accaggaatc cttttctcag caaagtaaag
      721 ctcatctact actatttatt tgcttttatt tatggacttg ttggttcttg cagtgatgta
      781 gtcatggtca attcttcttg gacactaaac catattctct cactatggaa agttgggaat
      841 tgcactaaca ttgtttatcc accttgtgat gtgcagacat ttctggacat tcccttacat
      901 gagaaaaaga tgaccccagg acatttgctg gtttctgttg gccagtttag gccggaaaag
      961 aatcatccat tgcagatcag agcctttgct aaattgctga ataagaagat ggttgagtca
     1021 cctccttcgc ttaaacttgt cctcattgga ggttgtcgta acaaagatga tgaacttagg
     1081 gtaaaccaac tgagaaggct gtctgaggat ttaggagttc aagaatatgt ggaatttaaa
     1141 ataaacattc catttgatga attaaagaat tatttgtctg aagcaacaat tggtctgcat
     1201 accatgtgga acgagcattt tgggattgga gttgtggagt gtatggcagc tggcacaatt
     1261 atccttgcac acaattcggg gggcccaaag cttgacattg tggttcctca cgaaggagat
     1321 ataactggct ttctggctga gagtgaagaa gactatgctg aaactatcgc tcacattctt
     1381 tccatgtctg cagaaaagag actccaaatc agaaaaagtg ctcgtgcatc tgtaagcaga
     1441 ttctctgatc aggaatttga agtgacattc ctatcatctg tggaaaagtt atttaagtaa
     1501 tgccatatct gtaaaattaa agatatttta tataaactgg ttaaacacct tcatatgtaa
     1561 atatttttct aaattcaatc tcatttgtca aatcatttta ctttagaaaa cagacaaaat
     1621 ttccttttag aataaaagga agtgttgaaa agaaaatgga tgactagcct tcggcttcca
     1681 ttcttggtat acatgagaga ggctggctgc tgagatgaat gtgaaccagg ttgcagagaa
     1741 tctggctttg agccaccagg aagaactagt ggatttgcca aaaaactacc ccttgagtga
     1801 aaatgaagat gagggggaca gtgatggaga gagaaagcat caaaagcttc tggaagcaat
     1861 catttccctt gatggaaaga ataggcggaa attggctgag aggtctgagg ctagtctgaa
     1921 agtgtcagag ttcagtgtca gttctgaagg atcaggagaa aagctgggcc ttgcagatct
     1981 gcttgagccc gttaaaactt catcttcttt ggccactgta aaaaagcaac tgaatagagt
     2041 caaatcaaag aaggtggtgg agttacctct taacaaagaa aaaattgaac agatccacag
     2101 agaagtagca ttcagtaaaa cctcacaggt cctctccaaa tgggacccta tcatcctgaa
     2161 gaaccagcag gcagagcagc tggtttttcc cctggggaag gagcagccag ccattgctcc
     2221 cattgaacat gcgctcagtg gctggaaggc aagaactccc ctggagcagg aaatttttaa
     2281 cctcctccat aagaacaagc agccagtgac agatccttta ctgactccca tggaaaaggc
     2341 ctctctccaa gccatgagcc tggaagaggc aaagatgcac cgagcagagc ttcagagggc
     2401 tcgggctctg cagtcctact atgaggccaa ggctcgaaaa gagaagaaaa tcaaaagtaa
     2461 aaagtatcac aaagtcgtga agaaaggaaa ggccaagaaa gccttaaaag agtttgagca
     2521 gctacagaag gttaatccaa ctgtggcact ggaagaaatg gaaaaaattg aaaatgccag
     2581 aatgatggaa agaatgagcc ttaagcacca aaacagtggg aaatgggcca agtcaaaggc
     2641 aattatggcc aaatatgacc tggaggctcg ccaagctatg caggaacagt tggccaagaa
     2701 caaagaactg acacagaaac tccaggtagc ctctgagagt gaggaagagg agggaggcac
     2761 agaagtggaa gaactccttg tccctcatgt agcgaatgaa gtgcagatga atgtggacgg
     2821 accgaatccc tggatgttca ggagctgcac cagtgacacc aaagaggctg caacacagga
     2881 ggaccctgag caagtgccag agcttgcagc tcatgaggtt tctgcaagtg aggcagaaga
     2941 aagaccagtg gcagaggaag aaattttgtt gagagaattt gaggaaaggc aatcccttag
     3001 aaaaagatct gagctcaacc aggatgctga gccagcaagc agtcaagaaa caaaagattc
     3061 tagcagccag gaggtgctgt ccgaattgag ggcactatct cagaaattga aggaaaaaca
     3121 tcagtccagg aagcaaaaag caagttcaga ggggactgtt ccccaggtcc agagagagga
     3181 acctgcccca gaagaagcgg aacccctatt gctacagagg tcagagagag tacaaactct
     3241 ggaagagcta gaagagctgg gaaaagaaga ttgttttcaa aataaggagc ttcccagacc
     3301 tgtgttagaa ggacagcagt cagagaggac cccaaataat cggcctgatg cccctaagga
     3361 gaagaaagag aaggagcaac tgatcaacct acagaacttc ctgaccacac agtctccttc
     3421 cgtgaggtct ttggcagttc ccacaataat agaggagctg gaagatgaag aggagagaga
     3481 ccaaaggcag atgataaagg aagcttttgc tggggatgat gtcatcagag atttcttgaa
     3541 agagaagagg gaagctgtgg aggcgagtaa gccaaaggac gtggacctga cactacctgg
     3601 ctggggcgag tggggtggtg tgggcctaaa gcccagtgcc aagaaaagac gccagtttct
     3661 cattaaagcc cctgagggtc ctccaagaaa agataagaat ttgccaaatg tgattatcag
     3721 tgagaagcgc aacatccacg cagcagctca tcaggtacaa gtgcttccat atccatttac
     3781 ccaccatcgg caatttgaaa ggaccatcca gacccctata ggatccacat ggaacaccca
     3841 gagggctttc caaaagctga ctactcccaa ggtcgtcacc aagccaggcc atatcattaa
     3901 gcccataaaa gcagaggatg tgggctacca gtcttcctca aggtcagacc tgcctgtcat
     3961 acagaggaat ccaaaacgaa tcaccacacg tcacaataaa gaagaaaaac tgtaggttgt
     4021 gtagctggag aagtgacagt caggggccct gattccactt cctttggtcc agttttactc
     4081 tgctacaggg tggattccaa aactggctca gcacattgca tgtagttgag ccacattttt
     4141 taaaaaaaga aaatggatga ccattaattg actagcattt tagaattgat cagacattag
     4201 aacacagaaa aattctagta catttaaatt ctaaacaata cagtggatga cccttttgaa
     4261 tatacctaat gatttcctta aaaaagaaat tttaaacaga cttgtttaat cgtgttctca
     4321 aagcatacag tcaagaggtg ggactgactg atgctttata ggtgtgtgta gggtggtaga
     4381 ggccaaggtg ctgccagcaa tcctttccat actaggtact ggtgaaaatt gtttttgttt
     4441 atgctgtcag cacatttgtg tgggtctctc attgtccctt aacagtgccg catctcagcc
     4501 tggaagtcag ctttaagtca ttcaagagaa cctcaggctg tttttctgac agtgatgata
     4561 tgatatacag atacatccac agggtatcta ttaccagcat aatgcattgt aagatggcaa
     4621 ggtggcattt tgaaagagcg ctgggcaagc agttagcaca tctgggccta ccttcagctt
     4681 cttcatttac aaacttctga ccttttgaca ctaaagctgc tcctttatct ttctgagtct
     4741 cagattcttc atctgtaatc tggagttgtt aattccagtc cttactacct tttagagttg
     4801 gaatgagatg gaaagtagat gaaactactt tgaaaattac gacagttaag ggctgggtgc
     4861 ggtgtctcac acctgtaatc ccagcacttt gggaggccga gatgggtgga tcatgaggtc
     4921 agcagttgag accagcctga acaacatggt gaaaccctgt ctgtactaaa aatacaaaaa
     4981 aattagctgg gcctggtggc aggcacctgt aatcccagct acttgggaga ctgaggcagg
     5041 agaattgctt gaaactggaa ggcagaggtt gcagtgagcc aagattgtgc cactgcactc
     5101 tagcctgggc aataagcaaa actccatctc aaaaaagaaa aaaaggaaaa agaaaattat
     5161 gagagttact taaaggtaac atcacatact aaatgtcttc tataatccta tatttattaa
     5221 tgcattacaa ctctgtagat tgttagttac taggccagta gctaggaatt ggtataaatt
     5281 taatgcacct tctatcctga ataactagca tggaaaagtg aatatatgtg tgagcagata
     5341 tggctataaa gacctatagc ttttgcactt tatgcatata taatcaatcc tttctagttc
     5401 agtgaattga ccccatccac aggctgattc atctttgtgt taaggggcaa atgaaacggt
     5461 atattatttc tttgcagtct cctctcagtc attcatcaat gtggccagct tatctactcc
     5521 caattatgtt gttgatacat ctccaagcca tctgtcatca gatcaaaaag cagcaaacag
     5581 agggtcagtc acaggatgtt ctgacacacc attgtaactt tttgttagag atgatcccat
     5641 ttagaaaaag actggtagaa attggagtga aaggaaccct acagattagc ccagttctct
     5701 cttattttca gctttacaga caagaacaat ttaaatctaa agaatttagt agattccttc
     5761 agtgtcacaa agctgtttca tgaaagaatc aagattataa cctggatatt ctgactcctg
     5821 gcccagtgct ttttcttact ttgtagctac actttgaagt aagattcaaa ctgttatcca
     5881 ctcaattgcc ttattcctga ggatgtagtg aaggaagaaa aagttttctg gaattccgta
     5941 aattatattt taagcttatt tcttcaaaat tattttcata tatcacagat atatcattgg
     6001 aagatataat ttgcatatat gttcattatc agtgttccta atttggtatt acatgtattc
     6061 tatttttttc tgaatgatag catgaaaagt gtcaaagtgg tttgtccgct agcgtctgtc
     6121 tgcagaactt tcaggatgac tattaattcc tctcagatgt catttttgag tggtccaagc
     6181 ctgctgtttt gaacccacag cagtggagat ttgtattctt atttacagtt gtgtactata
     6241 aagtgtgtgt tacataggtt ttgtgtaata attatttgta aatattattt agatttgtat
     6301 ttagacatga tttatatcta atatagatac aaagtctgtg tctaaatatt atttaaagaa
     6361 gtgatttttc attctcttgg attctttcca gtgtggtgcc ttttatatgc ctcacatagt
     6421 ctccttgttc tcctactaat attcccaagc tccatatgcc aattaaagaa gaaacaaaaa
     6481 taaaagtttg tcttgcttgt gaaacattaa
//
