1. Gene
  2. ALG9 - ALG9 alpha-1,2-mannosyltransferase Gene

ALG9 - ALG9 alpha-1,2-mannosyltransferase Gene

Homo sapiens

Also known as CDG1L; DIBD1; GIKANIS; LOH11CR1J

Gene ID: 79796 | Gene type: protein coding

About ALG9

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:111,768,025-111,871,581 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 3.4), thyroid (RPKM 3.0) and 25 other tissues.

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]

ALG9 Products(19)

mRNA Protein Name
NM_001077690.1 NP_001071158.1 alpha-1,2-mannosyltransferase ALG9 isoform b
NM_001077691.2 NP_001071159.1 alpha-1,2-mannosyltransferase ALG9 isoform c precursor
NM_001077692.2 NP_001071160.1 alpha-1,2-mannosyltransferase ALG9 isoform d precursor
NM_001352409.1 NP_001339338.1 alpha-1,2-mannosyltransferase ALG9 isoform d precursor
NM_001352410.1 NP_001339339.1 alpha-1,2-mannosyltransferase ALG9 isoform d precursor
NM_001352411.2 NP_001339340.1 alpha-1,2-mannosyltransferase ALG9 isoform d precursor
NM_001352412.2 NP_001339341.1 alpha-1,2-mannosyltransferase ALG9 isoform d precursor
NM_001352413.1 NP_001339342.1 alpha-1,2-mannosyltransferase ALG9 isoform c precursor
NM_001352414.2 NP_001339343.1 alpha-1,2-mannosyltransferase ALG9 isoform c precursor
NM_001352415.1 NP_001339344.1 alpha-1,2-mannosyltransferase ALG9 isoform e precursor
NM_001352416.1 NP_001339345.1 alpha-1,2-mannosyltransferase ALG9 isoform e precursor
NM_001352417.1 NP_001339346.1 alpha-1,2-mannosyltransferase ALG9 isoform f
NM_001352418.1 NP_001339347.1 alpha-1,2-mannosyltransferase ALG9 isoform g
NM_001352419.1 NP_001339348.1 alpha-1,2-mannosyltransferase ALG9 isoform h precursor
NM_001352420.2 NP_001339349.1 alpha-1,2-mannosyltransferase ALG9 isoform i precursor
NM_001352421.2 NP_001339350.1 alpha-1,2-mannosyltransferase ALG9 isoform j precursor
NM_001352422.2 NP_001339351.1 alpha-1,2-mannosyltransferase ALG9 isoform k
NM_001352423.2 NP_001339352.1 alpha-1,2-mannosyltransferase ALG9 isoform l precursor
NM_024740.2 NP_079016.2 alpha-1,2-mannosyltransferase ALG9 isoform a
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IGI
IGI: Inferred from genetic interaction
15148656 GOA
enables dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IGI
IGI: Inferred from genetic interaction
15148656 GOA
Biological Process GO Annotation Evidence Reference Source
involved in dolichol-linked oligosaccharide biosynthetic process IGI
IGI: Inferred from genetic interaction
15148656 GOA
involved in protein N-linked glycosylation IMP
IMP: Inferred from mutant phenotype
15148656 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALG9 Protein Structure

Glyco_transf_22

Glyco_transf_22: Alg9-like mannosyltransferase family (2 - 311)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 440 a.a.
Protein Preferred Names Protein Names

alpha-1,2-mannosyltransferase ALG9

asparagine-linked glycosylation 9 alpha-12-mannosyltransferase-like protein

Related Diseases

Diseases Alias
Congenital Disorder Of Glycosylation, Type Il

Cdg Il

CDG1L

Cdgil

Congenital Disorder Of Glycosylation Il

Congenital Disorder Of Glycosylation 1l

Cdg-Il

Congenital Disorder Of Glycosylation Type Il

Glycosylation, Congenital Disorder Of, Type Il

Congenital Disorder Of Glycosylation Type 1l

Gillessen-Kaesbach-Nishimura Syndrome

GIKANIS

Polycystic Kidney Disease, Autosomal Recessive, With Microbrachycephaly, Hypertelorism, And Brachymelia

Autosomal Dominant Polycystic Kidney Disease

Polycystic Kidney Disease, Adult Type

Adpkd

Polycystic Kidney Diseases

Polycystic Kidney, Autosomal Dominant

Congenital Biliary Ectasias

Polycystic Kidney And Hepatic Disease 1

Polycystic Kidney Disease, Autosomal Dominant

Kidney, Polycystic, Disease, Autosomal Dominant

Adult Polycystic Kidney Disease

Polycystic Kidney, Adult Type

Apckd - [Autosomal Polycystic Kidney Disease]

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 1

PKD1

Adpkd

Polycystic Kidney Disease, Adult, Type I

Apkd1

Potter Type Iii Polycystic Kidney Disease

Polycystic Kidney Disease, Adult

Potter Type Iii Polycystic Kidney Disease, Formerly

Polycystic Kidney Disease, Type 1

Adpkd1

Adult Polycystic Kidney Disease Type 1

Autosomal Dominant Polycystic Kidney Disease 1

Pkd-1

Polycystic Kidney Disease Adult

Polycystic Kidney Disease Type I

Polycystic Kidneys

Polycystic Kidney Disease, Adult Type I

Polycystic Kidney Type 1 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 1

Polycystic Kidney, Autosomal Dominant

Polycystic Kidney, Type 1 Autosomal Dominant Disease

Polycystic Kidney Diseases

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Congenital Disorder Of Glycosylation, Type Iip

CDG2P

Tmem199-Cdg

Cdg Iip

Congenital Disorder Of Glycosylation Type Iip

Cdgiip

Carbohydrate Deficient Glycoprotein Syndrome Type Iip

Cdg Syndrome Type Iip

Congenital Disorder Of Glycosylation Type 2p

Cdg-Iip

Cdgiidp

Congenital Disorder Of Glycosylation 2p

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Immunodeficiency 23

Cid Due To Pgm3 Deficiency

Combined Immunodeficiency Due To Pgm3 Deficiency

Pgm3-Cdg

Pgm3-Related Congenital Disorder Of Glycosylation

IMD23

Immunodeficiency With Hyper Ige And Cognitive Impairment

Immunodeficiency-Vasculitis-Myoclonus Syndrome

Ivms

Phosphoglucomutase 3 Deficiency

Phosphoglucomutase Deficiency Type 3

Pgm3-Congenital Disorder Of Glycosylation

Agm1 Deficiency

Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1

Deficiency Of Phosphoglucomutase 3

Pgm3 Deficiency

Immunodeficiency, Type 23

Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly

Conorenal Syndrome

Saldino-Mainzer Syndrome

SRTD9

Mainzer-Saldino Syndrome

Mzsds

Mainzer-Saldino Disease

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia, And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dysplasia

Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia And Skeletal Dy

Mainzer Saldino Syndrome

Conorenal Dysplasia

Mainzer-Saldino Chondrodysplasia

Saldino-Mainzer Dysplasia

Short-Rib Thoracic Dysplasia 9

Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome

Mss

Renal Dysplasia Retinal Pigmentary Dystrophy Cerebellar Ataxia And Skeletal Dysplasia

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Congenital Disorder Of Glycosylation, Type Iio

CDG2O

Ccdc115-Cdg

Cdg Iio

Congenital Disorder Of Glycosylation Type Iio

Cdgiio

Carbohydrate Deficient Glycoprotein Syndrome Type Iio

Cdg Syndrome Type Iio

Congenital Disorder Of Glycosylation Type 2o

Cdg-Iio

Cdgiido

Congenital Disorder Of Glycosylation 2o

Glycosylation, Congenital Disorder Of, Type Iio

Congenital Disorder Of Glycosylation, Type Iij

CDG2J

Congenital Disorder Of Glycosylation Type Iij

Cdg Iij

Cdgiij

Carbohydrate Deficient Glycoprotein Syndrome Type Iij

Cdg Syndrome Type Iij

Congenital Disorder Of Glycosylation Type 2j

Cog4-Cdg

Cdg-Iij

Cdgiidj

Congenital Disorder Of Glycosylation 2j

Glycosylation, Congenital Disorder Of, Type Iij

Kidney Disease

Renal Failure

Kidney Failure

Kidney Diseases

Nephropathy

Abnormality Of The Kidney

Impaired Renal Function Disease

Renal Anomaly

Kidney Dysfunction

Renal Disease

Nephropathies

Renal Failure Adverse Event

Abnormal Renal Function

Congenital Disorder Of Glycosylation, Type Iih

CDG2H

Congenital Disorder Of Glycosylation Type Iih

Cdg Iih

Cdgiih

Carbohydrate Deficient Glycoprotein Syndrome Type Iih

Congenital Disorder Of Glycosylation Type 2h

Cog8-Cdg

Cdg-Iih

Cdgiidh

Cdg Syndrome Type Iih

Congenital Disorder Of Glycosylation 2h

Glycosylation, Congenital Disorder Of, Type Iih

Congenital Disorder Of Glycosylation, Type Iik

CDG2K

Congenital Disorder Of Glycosylation Type Iik

Cdg Iik

Cdgiik

Carbohydrate Deficient Glycoprotein Syndrome Type Iik

Cdg Syndrome Type Iik

Congenital Disorder Of Glycosylation Type 2k

Tmem165-Cdg

Cdg-Iik

Cdgiidk

Congenital Disorder Of Glycosylation 2k

Glycosylation, Congenital Disorder Of, Type Iik

Schneckenbecken Dysplasia

SHNKND

Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis

Chondrodysplasia Lethal Neonatal With Snail Like Pelvis

Chondrodysplasia With Snail-Like Pelvis

Slc35d1-Cdg

Dysplasia, Schneckenbecken

Congenital Disorder Of Glycosylation, Type Iii

CDG2I

Congenital Disorder Of Glycosylation Type Iii

Cdgiii

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Congenital Disorder Of Glycosylation Type 2i

Cog5-Cdg

Cdgiidi

Congenital Disorder Of Glycosylation 2i

Glycosylation, Congenital Disorder Of, Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease

Arpkd

Polycystic Kidney Disease, Autosomal Recessive

Polycystic Kidney And Hepatic Disease 1

Pkhd1

PKD4

Polycystic Kidney Disease 4 With Or Without Hepatic Disease

Polycystic Kidney Disease, Infantile, Type I

Polycystic Kidney Disease, Infantile Type

Polycystic Kidney, Autosomal Recessive

Pkd3, Formerly

Polycystic Kidney Disease 4, With Or Without Hepatic Disease

Arpkd/Chf

Ar-Pkd

Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

Infantile Polycystic Kidney Disease Type I

Pkd3

Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

Polycystic Kidney Disease 3, Autosomal Dominant

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ALG9 RGD RGD:1311272
Mus musculus ALG9 MGD MGI:1924753