CA8

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	Length
Active siteⁱ	87	Proton acceptorPROSITE-ProRule annotation	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
Traceable author statementⁱ
- 8977131
zinc ion binding Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

phosphatidylinositol-mediated signaling Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Ligand	Metal-binding, Zinc

Ligand

Metal-binding, Zinc

Enzyme and pathway databases

BRENDAⁱ	4.2.1.1 2681

BRENDAⁱ

4.2.1.1 2681

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Carbonic anhydrase-related protein Short 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000178538.9
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1382 CA8
MIMⁱ	114815 gene
neXtProtⁱ	NX_P35219

Subcellular locationⁱ

GO - Cellular component

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and mental retardation.

Keywords - Diseaseⁱ

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	767
MalaCards human disease database More...MalaCardsⁱ	CA8
MIMⁱ	613227 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000178538
Orphanetⁱ	1766 Dysequilibrium syndrome
PharmGKBⁱ	PA25997

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00909 Zonisamide

DrugBankⁱ

DB00909 Zonisamide

Polymorphism and mutation 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

Phosphoprotein

Proteomic databases

EPDⁱ	P35219
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P35219
PaxDbⁱ	P35219
PeptideAtlas More...PeptideAtlasⁱ	P35219
PRIDEⁱ	P35219
ProteomicsDBⁱ	54985

PTM databases

iPTMnetⁱ	P35219
PhosphoSitePlusⁱ	P35219

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000178538
CleanExⁱ	HS_CA8
Genevisibleⁱ	P35219 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB025545 CAB047309 HPA024748

HPAⁱ

CAB025545
CAB047309
HPA024748

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
CRX	O43186	6	EBI-718700,EBI-748171
GGA2	Q9UJY4	6	EBI-718700,EBI-447646
HSD17B14	Q9BPX1	10	EBI-718700,EBI-742664
INTS7	Q9NVH2	3	EBI-718700,EBI-11276282
LNX1	Q8TBB1	6	EBI-718700,EBI-739832
MAGED1	Q9Y5V3	8	EBI-718700,EBI-716006
RAB34	Q9BZG1	3	EBI-718700,EBI-2856739
SPDL1	Q96EA4	6	EBI-718700,EBI-715381
TBX3	O15119	3	EBI-718700,EBI-3452216

Show more details

Protein-protein interaction databases

BioGridⁱ	107222, 36 interactors
IntActⁱ	P35219, 15 interactors
Molecular INTeraction database More...MINTⁱ	P35219
STRINGⁱ	9606.ENSP00000314407

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	31 – 34	Combined sources	4
Helixⁱ	37 – 39	Combined sources	3
Helixⁱ	42 – 45	Combined sources	4
Helixⁱ	56 – 58	Combined sources	3
Helixⁱ	63 – 66	Combined sources	4
Beta strandⁱ	71 – 73	Combined sources	3
Beta strandⁱ	77 – 84	Combined sources	8
Beta strandⁱ	89 – 92	Combined sources	4
Beta strandⁱ	97 – 101	Combined sources	5
Beta strandⁱ	110 – 119	Combined sources	10
Beta strandⁱ	128 – 131	Combined sources	4
Beta strandⁱ	137 – 146	Combined sources	10
Turnⁱ	147 – 149	Combined sources	3
Helixⁱ	153 – 156	Combined sources	4
Beta strandⁱ	163 – 174	Combined sources	12
Helixⁱ	177 – 183	Combined sources	7
Helixⁱ	184 – 189	Combined sources	6
Beta strandⁱ	194 – 199	Combined sources	6
Helixⁱ	203 – 206	Combined sources	4
Beta strandⁱ	215 – 221	Combined sources	7
Beta strandⁱ	229 – 238	Combined sources	10
Beta strandⁱ	240 – 242	Combined sources	3
Helixⁱ	244 – 250	Combined sources	7
Beta strandⁱ	254 – 256	Combined sources	3
Beta strandⁱ	286 – 288	Combined sources	3

3D structure databases

ProteinModelPortalⁱ	P35219
SMRⁱ	P35219
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	P35219

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 COG3338 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118915
HOGENOMⁱ	HOG000112637
HOVERGENⁱ	HBG002837
InParanoidⁱ	P35219
KEGG Orthology (KO) More...KOⁱ	K01672
OMAⁱ	DGMLGDN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0XFM
PhylomeDBⁱ	P35219
TreeFamⁱ	TF316425

Family and domain databases

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
PANTHERⁱ	PTHR18952 PTHR18952, 1 hit
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

P35219-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:290

Mass (Da):32,973

Last modified:January 23, 2007 - v3

Checksum:ⁱC142711660A972DB

GO

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:rs267606695EnsemblClinVar.		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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6174.1
PIRⁱ	JN0576
NCBI Reference Sequences More...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
UniGeneⁱ	Hs.654388 Hs.687269

Genome annotation databases

Ensemblⁱ	ENST00000317995; ENSP00000314407; ENSG00000178538
GeneIDⁱ	767
KEGGⁱ	hsa:767
UCSC genome browser More...UCSCⁱ	uc003xtz.2 human

Protein	Similar proteins		Species	Score	Length
P35219	Carbonic anhydrase 8		MACMU		290
CA8 isoform 1		PANTR		290
Carbonic anhydrase 8		RHIBE		290
Carbonic anhydrase 8		MACFA		290
Carbonic anhydrase 8		COLAP		290
+8

Protein	Similar proteins		Species	Score	Length
P35219	Carbonic anhydrase 8		MACMU		290
CA8 isoform 1		PANTR		290
Carbonic anhydrase 8		RHIBE		290
Carbonic anhydrase 8		MACFA		290
Carbonic anhydrase 8		COLAP		290
+78

Protein	Similar proteins		Species	Score	Length
P35219	Carbonic anhydrase 8		MACMU		290
CA8 isoform 1		PANTR		290
Carbonic anhydrase 8		RHIBE		290
Carbonic anhydrase 8		MACFA		290
Carbonic anhydrase 8		COLAP		290
+153

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6174.1
PIRⁱ	JN0576
NCBI Reference Sequences More...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
UniGeneⁱ	Hs.654388 Hs.687269

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2W2J	X-ray	1.60	A	1-290	[»]
ProteinModelPortalⁱ	P35219
SMRⁱ	P35219
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107222, 36 interactors
IntActⁱ	P35219, 15 interactors
Molecular INTeraction database More...MINTⁱ	P35219
STRINGⁱ	9606.ENSP00000314407

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00909 Zonisamide

DrugBankⁱ

DB00909 Zonisamide

PTM databases

iPTMnetⁱ	P35219
PhosphoSitePlusⁱ	P35219

Polymorphism and mutation databases

BioMutaⁱ	CA8
DMDMⁱ	461681

Proteomic databases

EPDⁱ	P35219
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P35219
PaxDbⁱ	P35219
PeptideAtlas More...PeptideAtlasⁱ	P35219
PRIDEⁱ	P35219
ProteomicsDBⁱ	54985

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	767
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000317995; ENSP00000314407; ENSG00000178538
GeneIDⁱ	767
KEGGⁱ	hsa:767
UCSC genome browser More...UCSCⁱ	uc003xtz.2 human

Organism-specific databases

CTDⁱ	767
DisGeNET More...DisGeNETⁱ	767
EuPathDBⁱ	HostDB:ENSG00000178538.9
GeneCardsⁱ	CA8
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:1382 CA8
Human Protein Atlas More...HPAⁱ	CAB025545 CAB047309 HPA024748
MalaCards human disease database More...MalaCardsⁱ	CA8
MIMⁱ	114815 gene 613227 phenotype
neXtProtⁱ	NX_P35219
Open Targets More...OpenTargetsⁱ	ENSG00000178538
Orphanetⁱ	1766 Dysequilibrium syndrome
PharmGKBⁱ	PA25997
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0382 Eukaryota COG3338 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118915
HOGENOMⁱ	HOG000112637
HOVERGENⁱ	HBG002837
InParanoidⁱ	P35219
KEGG Orthology (KO) More...KOⁱ	K01672
OMAⁱ	DGMLGDN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0XFM
PhylomeDBⁱ	P35219
TreeFamⁱ	TF316425

Enzyme and pathway databases

BRENDAⁱ	4.2.1.1 2681

BRENDAⁱ

4.2.1.1 2681

Miscellaneous databases

ChiTaRSⁱ	CA8 human
EvolutionaryTraceⁱ	P35219
GeneWikiⁱ	CA8
GenomeRNAiⁱ	767
Protein Ontology More...PROⁱ	PR:P35219
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000178538
CleanExⁱ	HS_CA8
Genevisibleⁱ	P35219 HS

Family and domain databases

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
PANTHERⁱ	PTHR18952 PTHR18952, 1 hit
Pfam protein domain database More...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...

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:	July 18, 2018
	This is version 157 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, Complete proteome, Reference proteome

Documents

Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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

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Supporting data

UniProtKB - P35219 (CAH8_HUMAN)

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Carbonic anhydrase-related protein

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Caution

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ