P35219 · CAH8_HUMAN
- ProteinCarbonic anhydrase-related protein
- GeneCA8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids290 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Does not have a carbonic anhydrase catalytic activity.
Features
Showing features for active site, site, binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Molecular Function | carbonate dehydratase activity | |
Molecular Function | hydro-lyase activity | |
Molecular Function | zinc ion binding | |
Biological Process | one-carbon metabolic process | |
Biological Process | positive regulation of calcium-mediated signaling |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCarbonic anhydrase-related protein
- Short namesCARP
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP35219
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Disease & Variants
Involvement in disease
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 (CAMRQ3)
- Note
- DescriptionAn autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.
- See alsoMIM:613227
Natural variants in CAMRQ3
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_063634 | 100 | S>P | in CAMRQ3; affects protein stability owing to accelerated proteasomal degradation; dbSNP:rs267606695 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_063634 | 100 | in CAMRQ3; affects protein stability owing to accelerated proteasomal degradation; dbSNP:rs267606695 | |||
Sequence: S → P |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 260 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000077433 | 1-290 | UniProt | Carbonic anhydrase-related protein | |||
Sequence: MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRLSPNYVVCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMELHLIHWNSTLFGSIDEAVGKPHGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDPLLRDYWVYEGSLTIPPCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRPTQPLSDRVIRAAFQ | |||||||
Modified residue | 5 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 5 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P35219 | CRX O43186 | 7 | EBI-718700, EBI-748171 | |
BINARY | P35219 | GGA2 Q9UJY4 | 6 | EBI-718700, EBI-447646 | |
BINARY | P35219 | HSD17B14 Q9BPX1 | 14 | EBI-718700, EBI-742664 | |
BINARY | P35219 | INTS7 Q9NVH2 | 3 | EBI-718700, EBI-11276282 | |
BINARY | P35219 | KLHL8 Q9P2G9-2 | 3 | EBI-718700, EBI-11959635 | |
BINARY | P35219 | LMNB2 Q03252 | 3 | EBI-718700, EBI-2830427 | |
BINARY | P35219 | LNX1 Q8TBB1 | 6 | EBI-718700, EBI-739832 | |
BINARY | P35219 | MAGED1 Q9Y5V3 | 9 | EBI-718700, EBI-716006 | |
BINARY | P35219 | RAB34 Q9BZG1 | 3 | EBI-718700, EBI-2856739 | |
BINARY | P35219 | SPDL1 Q96EA4 | 6 | EBI-718700, EBI-715381 | |
BINARY | P35219 | TBX3 O15119 | 3 | EBI-718700, EBI-3452216 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-26 | Disordered | ||||
Sequence: MADLSFIEDTVAFPEKEEDEEEEEEG | ||||||
Domain | 27-289 | Alpha-carbonic anhydrase | ||||
Sequence: VEWGYEEGVEWGLVFPDANGEYQSPINLNSREARYDPSLLDVRLSPNYVVCRDCEVTNDGHTIQVILKSKSVLSGGPLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMELHLIHWNSTLFGSIDEAVGKPHGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDPLLRDYWVYEGSLTIPPCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRPTQPLSDRVIRAAF |
Sequence similarities
Belongs to the alpha-carbonic anhydrase family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length290
- Mass (Da)32,973
- Last updated2007-01-23 v3
- ChecksumC142711660A972DB
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 106 | in Ref. 3; BAG52209 | ||||
Sequence: Q → R |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
L04656 EMBL· GenBank· DDBJ | AAA35653.2 EMBL· GenBank· DDBJ | mRNA | ||
AY075022 EMBL· GenBank· DDBJ | AAL78170.1 EMBL· GenBank· DDBJ | mRNA | ||
AK289470 EMBL· GenBank· DDBJ | BAF82159.1 EMBL· GenBank· DDBJ | mRNA | ||
AK314538 EMBL· GenBank· DDBJ | BAG37128.1 EMBL· GenBank· DDBJ | mRNA | ||
AK090655 EMBL· GenBank· DDBJ | BAG52209.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471068 EMBL· GenBank· DDBJ | EAW86826.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC069744 EMBL· GenBank· DDBJ | AAH69744.1 EMBL· GenBank· DDBJ | mRNA | ||
BC069794 EMBL· GenBank· DDBJ | AAH69794.1 EMBL· GenBank· DDBJ | mRNA | ||
BC108929 EMBL· GenBank· DDBJ | AAI08930.1 EMBL· GenBank· DDBJ | mRNA |