Seroatlas · Human Serome Atlas

ALG1

Chitobiosyldiphosphodolichol beta-mannosyltransferase

Also known as: ALG1_HUMAN, CDG1K, HMAT1, HMT-1, Mat-1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BT22
Gene
ALG1
Ensembl
ENSG00000033011
Chromosome
16
Canonical length
464 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoli fibrillar center,Endoplasmic reticulum

OverviewNCBI Gene

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

464 residues, UniProt reviewed canonical sequence.

>Q9BT22|ALG1
     1  MAASCLVLLA LCLLLPLLLL GGWKRWRRGR AARHVVAVVL GDVGRSPRMQ YHALSLAMHG
    61  FSVTLLGFCN SKPHDELLQN NRIQIVGLTE LQSLAVGPRV FQYGVKVVLQ AMYLLWKLMW
   121  REPGAYIFLQ NPPGLPSIAV CWFVGCLCGS KLVIDWHNYG YSIMGLVHGP NHPLVLLAKW
   181  YEKFFGRLSH LNLCVTNAMR EDLADNWHIR AVTVYDKPAS FFKETPLDLQ HRLFMKLGSM
   241  HSPFRARSEP EDPVTERSAF TERDAGSGLV TRLRERPALL VSSTSWTEDE DFSILLAALE
   301  KFEQLTLDGH NLPSLVCVIT GKGPLREYYS RLIHQKHFQH IQVCTPWLEA EDYPLLLGSA
   361  DLGVCLHTSS SGLDLPMKVV DMFGCCLPVC AVNFKCLHEL VKHEENGLVF EDSEELAAQL
   421  QMLFSNFPDP AGKLNQFRKN LRESQQLRWD ESWVQTVLPL VMDT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALG1 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
1
Mean surface accessibility (rSASA)
0.24
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 23 nTPM
  • pancreas: 15 nTPM
  • parathyroid gland: 15 nTPM
  • colon: 15 nTPM
  • rectum: 14 nTPM
  • salivary gland: 14 nTPM

Single-cell type

  • cone photoreceptor cells: 93 nCPM
  • late spermatids: 36 nCPM
  • late primary spermatocytes: 32 nCPM
  • differentiating spermatogonia: 27 nCPM
  • hofbauer cells: 26 nCPM
  • early primary spermatocytes: 26 nCPM

Immune cell

  • total PBMC: 94 nTPM
  • myeloid DC: 64 nTPM
  • gdT-cell: 62 nTPM
  • memory CD8 T-cell: 62 nTPM
  • non-classical monocyte: 61 nTPM
  • T-reg: 60 nTPM

Brain region

  • choroid plexus: 17 nTPM
  • cerebral cortex: 12 nTPM
  • hippocampal formation: 11 nTPM
  • white matter: 11 nTPM
  • basal ganglia: 11 nTPM
  • pons: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALG1.

Disease | AllUniProt

Conditions ALG1 is implicated in, by any mechanism.

  • Congenital disorder of glycosylation 1K (CDG1K) MIM:608540

Disease | GeneticClinVar

119 pathogenic / likely-pathogenic of 1,000 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.5
gnomAD pLI
0
gnomAD missense Z
-2.05
DepMap mean gene effect
-0.8
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ALG1 as an antibody target. Whether an autoantibody or antibody against ALG1 could matter depends on whether native ALG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALG1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ALG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ALG1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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