Seroatlas · Human Serome Atlas

GUCA1B

Guanylyl cyclase-activating protein 2

Also known as: GCAP2, GUC1B_HUMAN, RP48

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

Protein identityUniProt · HPA

UniProt accession: Q9UMX6
Gene: GUCA1B
Ensembl: ENSG00000112599
Chromosome: 6
Canonical length: 200 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Nucleoplasm,Nuclear membrane,Microtubules,Primary cilium,Basal body

OverviewNCBI Gene

The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

200 residues, UniProt reviewed canonical sequence.

>Q9UMX6|GUCA1B
     1  MGQEFSWEEA EAAGEIDVAE LQEWYKKFVM ECPSGTLFMH EFKRFFKVTD DEEASQYVEG
    61  MFRAFDKNGD NTIDFLEYVA ALNLVLRGTL EHKLKWTFKI YDKDGNGCID RLELLNIVEG
   121  IYQLKKACRR ELQTEQGQLL TPEEVVDRIF LLVDENGDGQ LSLNEFVEGA RRDKWVMKML
   181  QMDMNPSSWL AQQRRKSAMF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GUCA1B 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.33
Highest tissue expression: 432 nTPM

Expression across tissuesHPA

Tissue

retina: 432 nTPM
cerebellum: 5.4 nTPM
testis: 3.1 nTPM
ovary: 3 nTPM
liver: 2.7 nTPM
basal ganglia: 2.6 nTPM

Single-cell type

cone photoreceptor cells: 1,039 nCPM
rod photoreceptor cells: 436 nCPM
müller glia: 20 nCPM
retinal ganglion cells: 19 nCPM
retinal bipolar cells: 15 nCPM
myonuclei: 15 nCPM

Immune cell

T-reg: 0.2 nTPM
basophil: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
naive B-cell: 0.1 nTPM
naive CD8 T-cell: 0.1 nTPM
neutrophil: 0.1 nTPM

Brain region

white matter: 7 nTPM
cerebellum: 5.3 nTPM
cerebral cortex: 5.3 nTPM
basal ganglia: 5 nTPM
pons: 5 nTPM
thalamus: 4.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GUCA1B.

Disease | AllUniProt

Conditions GUCA1B is implicated in, by any mechanism.

Retinitis pigmentosa 48 (RP48) MIM:613827

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): 1.24
gnomAD pLI: 0
gnomAD missense Z: 0.22
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GUCA1B as an antibody target. Whether an autoantibody or antibody against GUCA1B could matter depends on whether native GUCA1B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GUCA1B is annotated at the cell surface, where native GUCA1B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GUCA1B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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