ALG12

Protein identityUniProt · HPA

UniProt accession

Q9BV10

Gene

ALG12

Ensembl

ENSG00000182858

Chromosome

22

Canonical length

488 aa

Protein class

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

Subcellular location

Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

488 residues, UniProt reviewed canonical sequence.

>Q9BV10|ALG12
     1  MAGKGSSGRR PLLLGLLVAV ATVHLVICPY TKVEESFNLQ ATHDLLYHWQ DLEQYDHLEF
    61  PGVVPRTFLG PVVIAVFSSP AVYVLSLLEM SKFYSQLIVR GVLGLGVIFG LWTLQKEVRR
   121  HFGAMVATMF CWVTAMQFHL MFYCTRTLPN VLALPVVLLA LAAWLRHEWA RFIWLSAFAI
   181  IVFRVELCLF LGLLLLLALG NRKVSVVRAL RHAVPAGILC LGLTVAVDSY FWRQLTWPEG
   241  KVLWYNTVLN KSSNWGTSPL LWYFYSALPR GLGCSLLFIP LGLVDRRTHA PTVLALGFMA
   301  LYSLLPHKEL RFIIYAFPML NITAARGCSY LLNNYKKSWL YKAGSLLVIG HLVVNAAYSA
   361  TALYVSHFNY PGGVAMQRLH QLVPPQTDVL LHIDVAAAQT GVSRFLQVNS AWRYDKREDV
   421  QPGTGMLAYT HILMEAAPGL LALYRDTHRV LASVVGTTGV SLNLTQLPPF NVHLQTKLVL
   481  LERLPRPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG12 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

12

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG12.

Disease | AllUniProt

Conditions ALG12 is implicated in, by any mechanism.

• Congenital disorder of glycosylation 1G (CDG1G) MIM:607143

Disease | GeneticClinVar

43 pathogenic / likely-pathogenic of 600 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• ALG12-congenital disorder of glycosylation
• ALG12-related disorder
• Inborn genetic diseases

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)

1.03

gnomAD pLI

0

gnomAD missense Z

-0.19

DepMap mean gene effect

-0.07

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 folding
• protein N-linked glycosylation

Molecular functions

• alpha-1,6-mannosyltransferase activity
• mannosyltransferase activity
• dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity

Cellular components

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

Protein domainsUniProt · Pfam · InterPro

• GPI mannosyltransferase
• Alg9-like mannosyltransferase family

KeywordsUniProt

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