Seroatlas · Human Serome Atlas

GALM

Galactose mutarotase

Also known as: GALM_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96C23
Gene: GALM
Ensembl: ENSG00000143891
Chromosome: 2
Canonical length: 342 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

342 residues, UniProt reviewed canonical sequence.

>Q96C23|GALM
     1  MASVTRAVFG ELPSGGGTVE KFQLQSDLLR VDIISWGCTI TALEVKDRQG RASDVVLGFA
    61  ELEGYLQKQP YFGAVIGRVA NRIAKGTFKV DGKEYHLAIN KEPNSLHGGV RGFDKVLWTP
   121  RVLSNGVQFS RISPDGEEGY PGELKVWVTY TLDGGELIVN YRAQASQATP VNLTNHSYFN
   181  LAGQASPNIN DHEVTIEADT YLPVDETLIP TGEVAPVQGT AFDLRKPVEL GKHLQDFHLN
   241  GFDHNFCLKG SKEKHFCARV HHAASGRVLE VYTTQPGVQF YTGNFLDGTL KGKNGAVYPK
   301  HSGFCLETQN WPDAVNQPRF PPVLLRPGEE YDHTTWFKFS VA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GALM 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.21
Highest tissue expression: 112 nTPM

Expression across tissuesHPA

Tissue

kidney: 112 nTPM
adrenal gland: 90 nTPM
liver: 68 nTPM
duodenum: 67 nTPM
small intestine: 50 nTPM
fallopian tube: 34 nTPM

Single-cell type

t-cells: 215 nCPM
adrenal cortex cells: 210 nCPM
enterocytes: 178 nCPM
proximal tubule cells: 161 nCPM
peritubular myoid cells: 147 nCPM
müller glia: 144 nCPM

Immune cell

T-reg: 69 nTPM
basophil: 39 nTPM
memory CD4 T-cell: 33 nTPM
MAIT T-cell: 32 nTPM
memory CD8 T-cell: 31 nTPM
gdT-cell: 22 nTPM

Brain region

choroid plexus: 13 nTPM
thalamus: 11 nTPM
midbrain: 8.7 nTPM
white matter: 8.3 nTPM
cerebellum: 8.2 nTPM
spinal cord: 7.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GALM.

Disease | AllUniProt

Conditions GALM is implicated in, by any mechanism.

Galactosemia 4 (GALAC4) MIM:618881

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 124 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Galactosemia 4

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: -0.15
DepMap mean gene effect: -0.02
DepMap dependency class: none

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

Molecular functions

carbohydrate binding
aldose 1-epimerase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Galactose mutarotase-like domain superfamily
Aldose 1-/Glucose-6-phosphate 1-epimerase
Glycoside hydrolase-type carbohydrate-binding
Aldose 1-epimerase/Galactose mutarotase
Aldose 1-epimerase, conserved site
Galactose mutarotase-like
Aldose 1-epimerase

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

GALM 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 GALM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...