UniProtKB - P35219 (CAH8_HUMAN)
Protein
Carbonic anhydrase-related protein
Gene
CA8
Organism
Homo sapiens (Human)
Status
Functioni
Does not have a carbonic anhydrase catalytic activity.
Caution
Although it belongs to the alpha-carbonic anhydrase family, Arg-116 is present instead of the conserved His which is a zinc-binding residue. It is therefore expected that this protein lacks carbonic anhydrase activity.Curated
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 87 | Proton donor/acceptorBy similarity | 1 | |
Sitei | 116 | Ancestral zinc ligand | 1 | |
Metal bindingi | 118 | ZincSequence analysis | 1 | |
Metal bindingi | 141 | ZincSequence analysis | 1 |
GO - Molecular functioni
- carbonate dehydratase activity Source: ProtInc
- hydro-lyase activity Source: GO_Central
- zinc ion binding Source: InterPro
GO - Biological processi
- one-carbon metabolic process Source: GO_Central
- phosphatidylinositol-mediated signaling Source: Ensembl
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 4.2.1.1, 2681 |
PathwayCommonsi | P35219 |
Names & Taxonomyi
Protein namesi | Recommended name: Carbonic anhydrase-related proteinShort name: CARP Alternative name(s): Carbonic anhydrase VIII Short name: CA-VIII |
Gene namesi | Name:CA8 Synonyms:CALS |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1382, CA8 |
MIMi | 114815, gene |
neXtProti | NX_P35219 |
VEuPathDBi | HostDB:ENSG00000178538.9 |
Subcellular locationi
Other locations
- cytoplasm Source: Ensembl
Pathology & Biotechi
Involvement in diseasei
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063634 | 100 | S → P in CMARQ3; affects protein stability owing to accelerated proteasomal degradation. 1 PublicationCorresponds to variant dbSNP:rs267606695Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 767 |
MalaCardsi | CA8 |
MIMi | 613227, phenotype |
OpenTargetsi | ENSG00000178538 |
Orphaneti | 1766, Dysequilibrium syndrome |
PharmGKBi | PA25997 |
Miscellaneous databases
Pharosi | P35219, Tbio |
Chemistry databases
DrugBanki | DB00909, Zonisamide |
Genetic variation databases
BioMutai | CA8 |
DMDMi | 461681 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000077433 | 1 – 290 | Carbonic anhydrase-related proteinAdd BLAST | 290 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 5 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P35219 |
jPOSTi | P35219 |
MassIVEi | P35219 |
MaxQBi | P35219 |
PaxDbi | P35219 |
PeptideAtlasi | P35219 |
PRIDEi | P35219 |
ProteomicsDBi | 54985 |
PTM databases
iPTMneti | P35219 |
PhosphoSitePlusi | P35219 |
Expressioni
Gene expression databases
Bgeei | ENSG00000178538, Expressed in cortex of kidney and 143 other tissues |
Genevisiblei | P35219, HS |
Organism-specific databases
HPAi | ENSG00000178538, Tissue enhanced (blood, brain, parathyroid gland) |
Interactioni
Binary interactionsi
Hide detailsP35219
Protein-protein interaction databases
BioGRIDi | 107222, 41 interactors |
IntActi | P35219, 35 interactors |
MINTi | P35219 |
STRINGi | 9606.ENSP00000314407 |
Miscellaneous databases
RNActi | P35219, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P35219 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P35219 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 27 – 289 | Alpha-carbonic anhydrasePROSITE-ProRule annotationAdd BLAST | 263 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 15 – 36 | Glu-rich (acidic)Add BLAST | 22 |
Sequence similaritiesi
Belongs to the alpha-carbonic anhydrase family.Curated
Phylogenomic databases
eggNOGi | KOG0382, Eukaryota |
GeneTreei | ENSGT00940000158863 |
HOGENOMi | CLU_039326_2_1_1 |
InParanoidi | P35219 |
OMAi | LIHWNAT |
OrthoDBi | 1377476at2759 |
PhylomeDBi | P35219 |
TreeFami | TF316425 |
Family and domain databases
CDDi | cd03120, alpha_CARP_VIII, 1 hit |
Gene3Di | 3.10.200.10, 1 hit |
InterProi | View protein in InterPro IPR001148, CA_dom IPR036398, CA_dom_sf IPR023561, Carbonic_anhydrase_a-class IPR018338, Carbonic_anhydrase_a-class_CS IPR041877, CARP_VIII |
PANTHERi | PTHR18952, PTHR18952, 1 hit |
Pfami | View protein in Pfam PF00194, Carb_anhydrase, 1 hit |
SMARTi | View protein in SMART SM01057, Carb_anhydrase, 1 hit |
SUPFAMi | SSF51069, SSF51069, 1 hit |
PROSITEi | View protein in PROSITE PS00162, ALPHA_CA_1, 1 hit PS51144, ALPHA_CA_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P35219-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MADLSFIEDT VAFPEKEEDE EEEEEGVEWG YEEGVEWGLV FPDANGEYQS
60 70 80 90 100
PINLNSREAR YDPSLLDVRL SPNYVVCRDC EVTNDGHTIQ VILKSKSVLS
110 120 130 140 150
GGPLPQGHEF ELYEVRFHWG RENQRGSEHT VNFKAFPMEL HLIHWNSTLF
160 170 180 190 200
GSIDEAVGKP HGIAIIALFV QIGKEHVGLK AVTEILQDIQ YKGKSKTIPC
210 220 230 240 250
FNPNTLLPDP LLRDYWVYEG SLTIPPCSEG VTWILFRYPL TISQLQIEEF
260 270 280 290
RRLRTHVKGA ELVEGCDGIL GDNFRPTQPL SDRVIRAAFQ
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 106 | Q → R in BAG52209 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063634 | 100 | S → P in CMARQ3; affects protein stability owing to accelerated proteasomal degradation. 1 PublicationCorresponds to variant dbSNP:rs267606695Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L04656 mRNA Translation: AAA35653.2 AY075022 mRNA Translation: AAL78170.1 AK289470 mRNA Translation: BAF82159.1 AK314538 mRNA Translation: BAG37128.1 AK090655 mRNA Translation: BAG52209.1 CH471068 Genomic DNA Translation: EAW86826.1 BC069744 mRNA Translation: AAH69744.1 BC069794 mRNA Translation: AAH69794.1 BC108929 mRNA Translation: AAI08930.1 |
CCDSi | CCDS6174.1 |
PIRi | JN0576 |
RefSeqi | NP_001308766.1, NM_001321837.1 NP_001308767.1, NM_001321838.1 NP_001308768.1, NM_001321839.1 NP_004047.3, NM_004056.5 |
Genome annotation databases
Ensembli | ENST00000317995; ENSP00000314407; ENSG00000178538 |
GeneIDi | 767 |
KEGGi | hsa:767 |
UCSCi | uc003xtz.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L04656 mRNA Translation: AAA35653.2 AY075022 mRNA Translation: AAL78170.1 AK289470 mRNA Translation: BAF82159.1 AK314538 mRNA Translation: BAG37128.1 AK090655 mRNA Translation: BAG52209.1 CH471068 Genomic DNA Translation: EAW86826.1 BC069744 mRNA Translation: AAH69744.1 BC069794 mRNA Translation: AAH69794.1 BC108929 mRNA Translation: AAI08930.1 |
CCDSi | CCDS6174.1 |
PIRi | JN0576 |
RefSeqi | NP_001308766.1, NM_001321837.1 NP_001308767.1, NM_001321838.1 NP_001308768.1, NM_001321839.1 NP_004047.3, NM_004056.5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2W2J | X-ray | 1.60 | A | 1-290 | [»] | |
SMRi | P35219 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107222, 41 interactors |
IntActi | P35219, 35 interactors |
MINTi | P35219 |
STRINGi | 9606.ENSP00000314407 |
Chemistry databases
DrugBanki | DB00909, Zonisamide |
PTM databases
iPTMneti | P35219 |
PhosphoSitePlusi | P35219 |
Genetic variation databases
BioMutai | CA8 |
DMDMi | 461681 |
Proteomic databases
EPDi | P35219 |
jPOSTi | P35219 |
MassIVEi | P35219 |
MaxQBi | P35219 |
PaxDbi | P35219 |
PeptideAtlasi | P35219 |
PRIDEi | P35219 |
ProteomicsDBi | 54985 |
Protocols and materials databases
Antibodypediai | 11840, 273 antibodies |
CPTCi | P35219, 2 antibodies |
DNASUi | 767 |
Genome annotation databases
Ensembli | ENST00000317995; ENSP00000314407; ENSG00000178538 |
GeneIDi | 767 |
KEGGi | hsa:767 |
UCSCi | uc003xtz.2, human |
Organism-specific databases
CTDi | 767 |
DisGeNETi | 767 |
GeneCardsi | CA8 |
HGNCi | HGNC:1382, CA8 |
HPAi | ENSG00000178538, Tissue enhanced (blood, brain, parathyroid gland) |
MalaCardsi | CA8 |
MIMi | 114815, gene 613227, phenotype |
neXtProti | NX_P35219 |
OpenTargetsi | ENSG00000178538 |
Orphaneti | 1766, Dysequilibrium syndrome |
PharmGKBi | PA25997 |
VEuPathDBi | HostDB:ENSG00000178538.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0382, Eukaryota |
GeneTreei | ENSGT00940000158863 |
HOGENOMi | CLU_039326_2_1_1 |
InParanoidi | P35219 |
OMAi | LIHWNAT |
OrthoDBi | 1377476at2759 |
PhylomeDBi | P35219 |
TreeFami | TF316425 |
Enzyme and pathway databases
BRENDAi | 4.2.1.1, 2681 |
PathwayCommonsi | P35219 |
Miscellaneous databases
BioGRID-ORCSi | 767, 5 hits in 875 CRISPR screens |
ChiTaRSi | CA8, human |
EvolutionaryTracei | P35219 |
GeneWikii | CA8 |
GenomeRNAii | 767 |
Pharosi | P35219, Tbio |
PROi | PR:P35219 |
RNActi | P35219, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000178538, Expressed in cortex of kidney and 143 other tissues |
Genevisiblei | P35219, HS |
Family and domain databases
CDDi | cd03120, alpha_CARP_VIII, 1 hit |
Gene3Di | 3.10.200.10, 1 hit |
InterProi | View protein in InterPro IPR001148, CA_dom IPR036398, CA_dom_sf IPR023561, Carbonic_anhydrase_a-class IPR018338, Carbonic_anhydrase_a-class_CS IPR041877, CARP_VIII |
PANTHERi | PTHR18952, PTHR18952, 1 hit |
Pfami | View protein in Pfam PF00194, Carb_anhydrase, 1 hit |
SMARTi | View protein in SMART SM01057, Carb_anhydrase, 1 hit |
SUPFAMi | SSF51069, SSF51069, 1 hit |
PROSITEi | View protein in PROSITE PS00162, ALPHA_CA_1, 1 hit PS51144, ALPHA_CA_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CAH8_HUMAN | |
Accessioni | P35219Primary (citable) accession number: P35219 Secondary accession number(s): A8K0A5, B3KQZ7, Q32MY2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 1994 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 10, 2021 | |
This is version 173 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM