ENSG00000121905


Homo sapiens

Features
Gene ID: ENSG00000121905
  
Biological name :HPCA
  
Synonyms : hippocalcin / HPCA / P84074
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p35.1
Gene start: 32885994
Gene end: 32898441
  
Corresponding Affymetrix probe sets: 205454_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000362566
NCBI entrez gene - 3208     See in Manteia.
OMIM - 142622
RefSeq - XM_017001118
RefSeq - NM_002143
RefSeq - XM_005270792
RefSeq Peptide - NP_002134
swissprot - P84074
Ensembl - ENSG00000121905
  
Related genetic diseases (OMIM): 224500 - Dystonia 2, torsion, autosomal recessive, 224500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 HPCAENSGALG00000003573Gallus gallus
 HpcaENSMUSG00000028785Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HPCAL1 / P37235 / hippocalcin like 1ENSG0000011575694
NCALD / P61601 / neurocalcin deltaENSG0000010449088
HPCAL4 / Q9UM19 / hippocalcin like 4ENSG0000011698367
VSNL1 / P62760 / visinin like 1ENSG0000016303267
NCS1 / P62166 / neuronal calcium sensor 1ENSG0000010713058
RCVRN / P35243 / recoverinENSG0000010904751
KCNIP2 / Q9NS61 / potassium voltage-gated channel interacting protein 2ENSG0000012004941
KCNIP1 / Q9NZI2 / potassium voltage-gated channel interacting protein 1ENSG0000018213241
GUCA1B / Q9UMX6 / guanylate cyclase activator 1BENSG0000011259940
KCNIP3 / Q9Y2W7 / potassium voltage-gated channel interacting protein 3ENSG0000011504139
KCNIP4 / Q6PIL6 / potassium voltage-gated channel interacting protein 4ENSG0000018577438
GUCA1A / P43080 / guanylate cyclase activator 1AENSG0000004854536
GUCA1C / O95843 / guanylate cyclase activator 1CENSG0000013847232


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007420 brain development IEA
 biological_processGO:0010518 positive regulation of phospholipase activity IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0031283 negative regulation of guanylate cyclase activity IEA
 biological_processGO:0031584 activation of phospholipase D activity IEA
 biological_processGO:0045762 positive regulation of adenylate cyclase activity IEA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0060041 retina development in camera-type eye IEA
 biological_processGO:0071257 cellular response to electrical stimulus IEA
 biological_processGO:0071277 cellular response to calcium ion IMP
 biological_processGO:0090314 positive regulation of protein targeting to membrane IEA
 biological_processGO:1901385 regulation of voltage-gated calcium channel activity IMP
 biological_processGO:1901986 response to ketamine IEA
 biological_processGO:1902065 response to L-glutamate IEA
 biological_processGO:1904009 cellular response to monosodium glutamate IEA
 biological_processGO:1904010 response to Aroclor 1254 IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0032590 dendrite membrane IEA
 cellular_componentGO:0032809 neuronal cell body membrane IEA
 cellular_componentGO:0032839 dendrite cytoplasm IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0044327 dendritic spine head IEA
 molecular_functionGO:0003779 actin binding IDA
 molecular_functionGO:0005509 calcium ion binding NAS
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0042802 identical protein binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000473 Torticollis 
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 HP:0000643 Blepharospasm "An involuntary recurrent spasm of both eyelids." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
Show

 HP:0001304 Torsion dystonia 
Show

 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
Show

 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
Show

 HP:0003621 Juvenile onset 
Show

 HP:0003677 Slow progression 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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