Seroatlas · Human Serome Atlas

DGCR6L

Protein DGCR6L

Also known as: DGC6L_HUMAN, FLJ10666

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

Protein identityUniProt · HPA

UniProt accession: Q9BY27
Gene: DGCR6L
Ensembl: ENSG00000128185
Chromosome: 22
Canonical length: 220 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

220 residues, UniProt reviewed canonical sequence.

>Q9BY27|DGCR6L
     1  MERYAAALEE VADGARQQER HYQLLSALQS LVKELPSSFQ QRLSYTTLSD LALALLDGTV
    61  FEIVQGLLEI QHLTEKSLYN QRLRLQNEHR VLRQALRQKH QEAQQACRPH NLPVVQAAQQ
   121  RELEAVEHRI REEQRAMDQK IILELDRKVA DQQSTLEKAG VAGFYVTTNP QELMLQMNLL
   181  ELIRKLQQRG CRAGNAALGL GGPWQSPAAQ CDQKGSPVPP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DGCR6L 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): 0.39
Highest tissue expression: 149 nTPM

Expression across tissuesHPA

Tissue

liver: 149 nTPM
testis: 124 nTPM
amygdala: 84 nTPM
cerebral cortex: 80 nTPM
skeletal muscle: 77 nTPM
choroid plexus: 76 nTPM

Single-cell type

late spermatids: 5,043 nCPM
early spermatids: 581 nCPM
late primary spermatocytes: 309 nCPM
hepatocytes: 175 nCPM
decidual stromal cells: 148 nCPM
enterocytes: 146 nCPM

Immune cell

eosinophil: 146 nTPM
NK-cell: 140 nTPM
memory CD4 T-cell: 131 nTPM
T-reg: 130 nTPM
total PBMC: 120 nTPM
naive CD4 T-cell: 120 nTPM

Brain region

amygdala: 49 nTPM
thalamus: 46 nTPM
cerebral cortex: 46 nTPM
hippocampal formation: 42 nTPM
basal ganglia: 42 nTPM
choroid plexus: 42 nTPM

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): 1.27
gnomAD pLI: 0
gnomAD missense Z: 0.54
DepMap mean gene effect: -0.03
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

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DGCR6L as an antibody target. Whether an autoantibody or antibody against DGCR6L could matter depends on whether native DGCR6L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DGCR6L 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 DGCR6L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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