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

Gene ID: 79796, updated on 27-Nov-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
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Genomic context

See ALG9 in Genome Data Viewer
Location:
11q23.1
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111768025..111871581, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111778034..111881824, complement)
RS_2024_09 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 gene information

Markers

Clone Names

  • FLJ21845, DKFZp586M2420

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)

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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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    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_2024_08

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