ALG9

Protein identityUniProt · HPA

UniProt accession

Q9H6U8

Gene

ALG9

Ensembl

ENSG00000086848

Chromosome

11

Canonical length

611 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

611 residues, UniProt reviewed canonical sequence.

>Q9H6U8|ALG9
     1  MASRGARQRL KGSGASSGDT APAADKLREL LGSREAGGAE HRTELSGNKA GQVWAPEGST
    61  AFKCLLSARL CAALLSNISD CDETFNYWEP THYLIYGEGF QTWEYSPAYA IRSYAYLLLH
   121  AWPAAFHARI LQTNKILVFY FLRCLLAFVS CICELYFYKA VCKKFGLHVS RMMLAFLVLS
   181  TGMFCSSSAF LPSSFCMYTT LIAMTGWYMD KTSIAVLGVA AGAILGWPFS AALGLPIAFD
   241  LLVMKHRWKS FFHWSLMALI LFLVPVVVID SYYYGKLVIA PLNIVLYNVF TPHGPDLYGT
   301  EPWYFYLING FLNFNVAFAL ALLVLPLTSL MEYLLQRFHV QNLGHPYWLT LAPMYIWFII
   361  FFIQPHKEER FLFPVYPLIC LCGAVALSAL QKCYHFVFQR YRLEHYTVTS NWLALGTVFL
   421  FGLLSFSRSV ALFRGYHGPL DLYPEFYRIA TDPTIHTVPE GRPVNVCVGK EWYRFPSSFL
   481  LPDNWQLQFI PSEFRGQLPK PFAEGPLATR IVPTDMNDQN LEEPSRYIDI SKCHYLVDLD
   541  TMRETPREPK YSSNKEEWIS LAYRPFLDAS RSSKLLRAFY VPFLSDQYTV YVNYTILKPR
   601  KAKQIRKKSG G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

8

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

18 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG9.

Disease | AllUniProt

Conditions ALG9 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1L (CDG1L) MIM:608776
• Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) MIM:263210

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 402 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG9 congenital disorder of glycosylation
• Gillessen-Kaesbach-Nishimura syndrome
• ALG9-associated autosomal dominant polycystic kidney disease
• ALG9-related disorder
• Polycystic kidney disease, adult type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.65

gnomAD pLI

0

gnomAD missense Z

1.01

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichol-linked oligosaccharide biosynthetic process
• protein N-linked glycosylation

Molecular functions

• alpha-1,2-mannosyltransferase activity
• dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity
• dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• lumenal side of endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• GPI mannosyltransferase
• Alg9-like mannosyltransferase family

KeywordsUniProt

• Chromosomal rearrangement
• Congenital disorder of glycosylation
• Endoplasmic reticulum
• Glycoprotein
• Glycosyltransferase
• Membrane
• Transferase
• Transmembrane
• Transmembrane helix