Seroatlas · Human Serome Atlas

CA5B

Carbonic anhydrase 5B, mitochondrial

Also known as: CAH5B_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9Y2D0
Gene: CA5B
Ensembl: ENSG00000169239
Chromosome: X
Canonical length: 317 aa
Protein class: Enzymes, FDA approved drug targets, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]

Canonical amino-acid sequenceUniProt

317 residues, UniProt reviewed canonical sequence.

>Q9Y2D0|CA5B
     1  MVVMNSLRVI LQASPGKLLW RKFQIPRFMP ARPCSLYTCT YKTRNRALHP LWESVDLVPG
    61  GDRQSPINIR WRDSVYDPGL KPLTISYDPA TCLHVWNNGY SFLVEFEDST DKSVIKGGPL
   121  EHNYRLKQFH FHWGAIDAWG SEHTVDSKCF PAELHLVHWN AVRFENFEDA ALEENGLAVI
   181  GVFLKLGKHH KELQKLVDTL PSIKHKDALV EFGSFDPSCL MPTCPDYWTY SGSLTTPPLS
   241  ESVTWIIKKQ PVEVDHDQLE QFRTLLFTSE GEKEKRMVDN FRPLQPLMNR TVRSSFRHDY
   301  VLNVQAKPKP ATSQATP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CA5B 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): 0.33
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

cervix: 22 nTPM
ovary: 14 nTPM
blood vessel: 11 nTPM
retina: 11 nTPM
parathyroid gland: 10 nTPM
testis: 9.8 nTPM

Single-cell type

nk-cells: 90 nCPM
sertoli cells: 85 nCPM
innate lymphoid cells: 84 nCPM
renal collecting duct intercalated cells: 82 nCPM
t-cells: 79 nCPM
retinal pigment epithelial cells: 73 nCPM

Immune cell

gdT-cell: 23 nTPM
memory CD4 T-cell: 22 nTPM
MAIT T-cell: 21 nTPM
memory CD8 T-cell: 21 nTPM
T-reg: 20 nTPM
naive CD4 T-cell: 18 nTPM

Brain region

medulla oblongata: 24 nTPM
hypothalamus: 22 nTPM
pons: 21 nTPM
midbrain: 20 nTPM
spinal cord: 20 nTPM
thalamus: 19 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): 1.2
gnomAD pLI: 0
gnomAD missense Z: -0.05
DepMap mean gene effect: 0.19
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

response to bacterium

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CA5B as an antibody target. Whether an autoantibody or antibody against CA5B could matter depends on whether native CA5B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CA5B 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 CA5B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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