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

Gene ID: 79796, updated on 1-Aug-2020

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
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

Genomic context

See ALG9 in Genome Data Viewer
Location:
11q23.1
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (111776096..111871581, complement)
105 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 RN7SK pseudogene 273 Neighboring gene protein phosphatase 2 scaffold subunit Abeta Neighboring gene G protein subunit gamma 5 pseudogene 3 Neighboring gene ferredoxin-fold anticodon binding domain containing 1 Neighboring gene chromosome 11 open reading frame 1

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

Homology

Clone Names

  • FLJ21845, DKFZp586M2420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-1,2-mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alpha-1,2-mannosyltransferase activity TAS
Traceable Author Statement
more info
 
dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
mannosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
dolichol-linked oligosaccharide biosynthetic process TAS
Traceable Author Statement
more info
 
mannosylation IEA
Inferred from Electronic Annotation
more info
 
protein N-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 

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_011541294.1
XP_016873802.1
XP_016873803.1
XP_024304463.1

NCBI Reference Sequences (RefSeq)

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_009210.1 RefSeqGene

    Range
    5001..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
    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/Swiss-Prot
    Q9H6U8
    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/Swiss-Prot
    Q9H6U8
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    111776096..111871581 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018314.2XP_016873803.1  alpha-1,2-mannosyltransferase ALG9 isoform X6

  2. XM_005277723.5XP_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
  3. XM_017018313.2XP_016873802.1  alpha-1,2-mannosyltransferase ALG9 isoform X3

  4. XM_011542992.2XP_011541294.1  alpha-1,2-mannosyltransferase ALG9 isoform X2

    Conserved Domains (1) summary
    pfam03901
    Location:60489
    Glyco_transf_22; Alg9-like mannosyltransferase family
  5. XM_006718913.3XP_006718976.1  alpha-1,2-mannosyltransferase ALG9 isoform X4

    Conserved Domains (1) summary
    pfam03901
    Location:60489
    Glyco_transf_22; Alg9-like mannosyltransferase family
  6. XM_024448695.1XP_024304463.1  alpha-1,2-mannosyltransferase ALG9 isoform X5

    Conserved Domains (1) summary
    pfam03901
    Location:60482
    Glyco_transf_22; Alg9-like mannosyltransferase family

RNA

  1. XR_001747969.2 RNA Sequence

  2. XR_001747967.2 RNA Sequence

  3. XR_001747968.2 RNA Sequence

  4. XR_001747977.1 RNA Sequence

  5. XR_001747973.1 RNA Sequence

  6. XR_001747971.1 RNA Sequence

  7. XR_001747972.1 RNA Sequence

  8. XR_001747974.1 RNA Sequence

  9. XR_001747975.1 RNA Sequence

  10. XR_001747976.1 RNA Sequence

  11. XR_947864.2 RNA Sequence

  12. XR_947865.2 RNA Sequence

    Related
    ENST00000619129.4
  13. XR_947863.3 RNA Sequence

  14. XR_001747970.2 RNA Sequence

  15. XR_001747980.1 RNA Sequence

  16. XR_001747979.1 RNA Sequence

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