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    ALG9 ALG9 alpha-1,2-mannosyltransferase [ Homo sapiens (human) ]

    Gene ID: 79796, updated on 7-Jan-2024

    Summary

    Official Symbol
    ALG9provided by HGNC
    Official Full Name
    ALG9 alpha-1,2-mannosyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:15672
    See related
    Ensembl:ENSG00000086848 MIM:606941; AllianceGenome:HGNC:15672
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG1L; DIBD1; GIKANIS; LOH11CR1J
    Summary
    This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), thyroid (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ALG9 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111768025..111871581, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111778034..111881824, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111652919..111742305, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene salt inducible kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111563346-111563859 Neighboring gene RN7SK pseudogene 273 Neighboring gene protein phosphatase 2 scaffold subunit Abeta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111594031-111594566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111603371-111604187 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:111605768-111606404 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:111636139-111637042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3900 Neighboring gene uncharacterized LOC124902756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3901 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:111685391-111686590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111709725-111710226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3902 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:111749557-111750176 Neighboring gene G protein subunit gamma 5 pseudogene 3 Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene cilia and flagella associated protein 68

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    alpha-1,2-mannosyltransferase ALG9
    Names
    asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein
    asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)
    asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase)
    asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog
    asparagine-linked glycosylation protein 9 homolog
    disrupted in bipolar affective disorder 1
    disrupted in bipolar disorder protein 1
    dol-P-Man dependent alpha-1,2-mannosyltransferase
    dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
    loss of heterozygosity, 11, chromosomal region 1 gene J product
    NP_001071158.1
    NP_001071159.1
    NP_001071160.1
    NP_001339338.1
    NP_001339339.1
    NP_001339340.1
    NP_001339341.1
    NP_001339342.1
    NP_001339343.1
    NP_001339344.1
    NP_001339345.1
    NP_001339346.1
    NP_001339347.1
    NP_001339348.1
    NP_001339349.1
    NP_001339350.1
    NP_001339351.1
    NP_001339352.1
    NP_079016.2
    XP_005277780.1
    XP_006718976.1
    XP_016873803.1
    XP_024304463.1
    XP_047283565.1
    XP_054225956.1
    XP_054225957.1
    XP_054225958.1
    XP_054225959.1
    XP_054225960.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009210.2 RefSeqGene

      Range
      5000..94386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077690.1NP_001071158.1  alpha-1,2-mannosyltransferase ALG9 isoform b

      See identical proteins and their annotated locations for NP_001071158.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (b) lacks a 7-aa internal segment, compared to isoform a.
      Source sequence(s)
      AK025498, AL136927, AP001781
      Consensus CDS
      CCDS73379.1
      UniProtKB/Swiss-Prot
      Q6ZMD5, Q7Z4R4, Q96GS7, Q96PB9, Q9H068, Q9H6U8
      Related
      ENSP00000484200.1, ENST00000614444.4
      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    2. NM_001077691.2NP_001071159.1  alpha-1,2-mannosyltransferase ALG9 isoform c precursor

      See identical proteins and their annotated locations for NP_001071159.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a. Variants 3, 9, and 10 all encode the same isoform (c).
      Source sequence(s)
      AK025498, AP001781, BC009255, DA257621, FP884232
      Consensus CDS
      CCDS41714.1
      UniProtKB/TrEMBL
      B4DQI3
      Related
      ENSP00000435517.1, ENST00000531154.5
      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    3. NM_001077692.2NP_001071160.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      See identical proteins and their annotated locations for NP_001071160.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (d) has a shorter N-terminus and lacks a 7-aa internal segment, compared to isoform a. Variants 4-8 all encode the same isoform (d).
      Source sequence(s)
      AK025498, AL136927, AP001781, DA257621, FP884232
      Consensus CDS
      CCDS53709.1
      UniProtKB/TrEMBL
      B4DQI3
      Related
      ENSP00000381090.2, ENST00000398006.6
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    4. NM_001352409.1NP_001339338.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 4 and 6-8, encodes isoform d.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS53709.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    5. NM_001352410.1NP_001339339.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 4, 5, 7, and 8, encodes isoform d.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS53709.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    6. NM_001352411.2NP_001339340.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 4-6 and 8, encodes isoform d.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS53709.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    7. NM_001352412.2NP_001339341.1  alpha-1,2-mannosyltransferase ALG9 isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 4-7, encodes isoform d.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS53709.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    8. NM_001352413.1NP_001339342.1  alpha-1,2-mannosyltransferase ALG9 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 3 and 10, encodes isoform c.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS41714.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    9. NM_001352414.2NP_001339343.1  alpha-1,2-mannosyltransferase ALG9 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 3 and 9, encodes isoform c.
      Source sequence(s)
      AP001781, FP884232
      Consensus CDS
      CCDS41714.1
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    10. NM_001352415.1NP_001339344.1  alpha-1,2-mannosyltransferase ALG9 isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes isoform e.
      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    11. NM_001352416.1NP_001339345.1  alpha-1,2-mannosyltransferase ALG9 isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes isoform e.
      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    12. NM_001352417.1NP_001339346.1  alpha-1,2-mannosyltransferase ALG9 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) encodes the longest isoform (f).
      Source sequence(s)
      AP001781, FP884232
      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    13. NM_001352418.1NP_001339347.1  alpha-1,2-mannosyltransferase ALG9 isoform g

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      Conserved Domains (1) summary
      pfam03901
      Location:60441
      Glyco_transf_22; Alg9-like mannosyltransferase family
    14. NM_001352419.1NP_001339348.1  alpha-1,2-mannosyltransferase ALG9 isoform h precursor

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1318
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    15. NM_001352420.2NP_001339349.1  alpha-1,2-mannosyltransferase ALG9 isoform i precursor

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    16. NM_001352421.2NP_001339350.1  alpha-1,2-mannosyltransferase ALG9 isoform j precursor

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1311
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    17. NM_001352422.2NP_001339351.1  alpha-1,2-mannosyltransferase ALG9 isoform k

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1286
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    18. NM_001352423.2NP_001339352.1  alpha-1,2-mannosyltransferase ALG9 isoform l precursor

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232
      UniProtKB/TrEMBL
      B4DQI3
      Conserved Domains (1) summary
      cl21590
      Location:1270
      PMT_2; Dolichyl-phosphate-mannose-protein mannosyltransferase
    19. NM_024740.2NP_079016.2  alpha-1,2-mannosyltransferase ALG9 isoform a

      See identical proteins and their annotated locations for NP_079016.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AK025498, AP001781, BC009255
      Consensus CDS
      CCDS73380.1
      UniProtKB/Swiss-Prot
      Q9H6U8
      Related
      ENSP00000482437.1, ENST00000616540.5
      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family

    RNA

    1. NR_147984.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP001781, FP884232

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111768025..111871581 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018314.3XP_016873803.1  alpha-1,2-mannosyltransferase ALG9 isoform X4

    2. XM_024448695.2XP_024304463.1  alpha-1,2-mannosyltransferase ALG9 isoform X3

      Conserved Domains (1) summary
      pfam03901
      Location:60482
      Glyco_transf_22; Alg9-like mannosyltransferase family
    3. XM_005277723.6XP_005277780.1  alpha-1,2-mannosyltransferase ALG9 isoform X1

      See identical proteins and their annotated locations for XP_005277780.1

      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    4. XM_006718913.4XP_006718976.1  alpha-1,2-mannosyltransferase ALG9 isoform X2

      Conserved Domains (1) summary
      pfam03901
      Location:60489
      Glyco_transf_22; Alg9-like mannosyltransferase family
    5. XM_047427609.1XP_047283565.1  alpha-1,2-mannosyltransferase ALG9 isoform X5

    RNA

    1. XR_001747968.3 RNA Sequence

    2. XR_001747967.3 RNA Sequence

    3. XR_007062503.1 RNA Sequence

    4. XR_001747977.2 RNA Sequence

    5. XR_007062504.1 RNA Sequence

    6. XR_001747974.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111778034..111881824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369984.1XP_054225959.1  alpha-1,2-mannosyltransferase ALG9 isoform X4

    2. XM_054369983.1XP_054225958.1  alpha-1,2-mannosyltransferase ALG9 isoform X3

    3. XM_054369981.1XP_054225956.1  alpha-1,2-mannosyltransferase ALG9 isoform X1

    4. XM_054369982.1XP_054225957.1  alpha-1,2-mannosyltransferase ALG9 isoform X2

    5. XM_054369985.1XP_054225960.1  alpha-1,2-mannosyltransferase ALG9 isoform X5

    RNA

    1. XR_008488452.1 RNA Sequence

    2. XR_008488451.1 RNA Sequence

    3. XR_008488453.1 RNA Sequence

    4. XR_008488456.1 RNA Sequence

    5. XR_008488454.1 RNA Sequence

    6. XR_008488455.1 RNA Sequence