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Protein

Neuron-specific calcium-binding protein hippocalcin

Gene

HPCA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds two calcium ions.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi73 – 841PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi109 – 1202PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi157 – 1683PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • calcium ion binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Neuron-specific calcium-binding protein hippocalcin
Alternative name(s):
Calcium-binding protein BDR-2
Gene namesi
Name:HPCA
Synonyms:BDR2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:5144. HPCA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Dystonia 2, torsion, autosomal recessive (DYT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.
See also OMIM:224500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07380371T → N in DYT2. 1 PublicationCorresponds to variant rs775863165dbSNPEnsembl.1
Natural variantiVAR_07380475N → K in DYT2. 1 PublicationCorresponds to variant rs786205675dbSNPEnsembl.1
Natural variantiVAR_073805190A → T in DYT2. 1 PublicationCorresponds to variant rs550921485dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi3208.
MIMi224500. phenotype.
OpenTargetsiENSG00000121905.
PharmGKBiPA29417.

Polymorphism and mutation databases

BioMutaiHPCA.
DMDMi51317406.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00000737682 – 193Neuron-specific calcium-binding protein hippocalcinAdd BLAST192

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineBy similarity1

Post-translational modificationi

Myristoylation facilitates interaction with membranes.By similarity

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

EPDiP84074.
MaxQBiP84074.
PaxDbiP84074.
PeptideAtlasiP84074.
PRIDEiP84074.

PTM databases

iPTMnetiP84074.
PhosphoSitePlusiP84074.
SwissPalmiP84074.

Expressioni

Tissue specificityi

Brain specific.1 Publication

Gene expression databases

BgeeiENSG00000121905.
CleanExiHS_HPCA.
GenevisibleiP84074. HS.

Organism-specific databases

HPAiCAB012340.
HPA043245.

Interactioni

GO - Molecular functioni

  • actin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109448. 7 interactors.
IntActiP84074. 1 interactor.
STRINGi9606.ENSP00000362566.

Structurei

3D structure databases

ProteinModelPortaliP84074.
SMRiP84074.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 59EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini60 – 95EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini96 – 131EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini144 – 179EF-hand 4PROSITE-ProRule annotationAdd BLAST36

Sequence similaritiesi

Belongs to the recoverin family.Curated
Contains 4 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0044. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00760000118820.
HOGENOMiHOG000233019.
HOVERGENiHBG108179.
InParanoidiP84074.
OMAiDLRENTD.
OrthoDBiEOG091G11T4.
PhylomeDBiP84074.
TreeFamiTF300009.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR028846. Recoverin.
[Graphical view]
PANTHERiPTHR23055. PTHR23055. 1 hit.
PfamiPF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P84074-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGKQNSKLRP EMLQDLRENT EFSELELQEW YKGFLKDCPT GILNVDEFKK
60 70 80 90 100
IYANFFPYGD ASKFAEHVFR TFDTNSDGTI DFREFIIALS VTSRGRLEQK
110 120 130 140 150
LMWAFSMYDL DGNGYISREE MLEIVQAIYK MVSSVMKMPE DESTPEKRTE
160 170 180 190
KIFRQMDTNN DGKLSLEEFI RGAKSDPSIV RLLQCDPSSA SQF
Length:193
Mass (Da):22,427
Last modified:January 23, 2007 - v2
Checksum:i3DBEA176AC945DB1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti94R → P in BAA04019 (PubMed:8166736).Curated1
Sequence conflicti190A → R in BAA04019 (PubMed:8166736).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04866221E → D.Corresponds to variant rs11554958dbSNPEnsembl.1
Natural variantiVAR_07380371T → N in DYT2. 1 PublicationCorresponds to variant rs775863165dbSNPEnsembl.1
Natural variantiVAR_07380475N → K in DYT2. 1 PublicationCorresponds to variant rs786205675dbSNPEnsembl.1
Natural variantiVAR_073805190A → T in DYT2. 1 PublicationCorresponds to variant rs550921485dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D16593 mRNA. Translation: BAA04019.1.
AB015202 Genomic DNA. Translation: BAA74456.1.
AK313907 mRNA. Translation: BAG36630.1.
CH471059 Genomic DNA. Translation: EAX07495.1.
CH471059 Genomic DNA. Translation: EAX07496.1.
CH471059 Genomic DNA. Translation: EAX07498.1.
BC001777 mRNA. Translation: AAH01777.1.
CCDSiCCDS370.1.
PIRiJC2186.
RefSeqiNP_002134.2. NM_002143.2.
XP_005270849.1. XM_005270792.2.
XP_016856607.1. XM_017001118.1.
UniGeneiHs.632391.

Genome annotation databases

EnsembliENST00000373467; ENSP00000362566; ENSG00000121905.
GeneIDi3208.
KEGGihsa:3208.
UCSCiuc001bwh.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D16593 mRNA. Translation: BAA04019.1.
AB015202 Genomic DNA. Translation: BAA74456.1.
AK313907 mRNA. Translation: BAG36630.1.
CH471059 Genomic DNA. Translation: EAX07495.1.
CH471059 Genomic DNA. Translation: EAX07496.1.
CH471059 Genomic DNA. Translation: EAX07498.1.
BC001777 mRNA. Translation: AAH01777.1.
CCDSiCCDS370.1.
PIRiJC2186.
RefSeqiNP_002134.2. NM_002143.2.
XP_005270849.1. XM_005270792.2.
XP_016856607.1. XM_017001118.1.
UniGeneiHs.632391.

3D structure databases

ProteinModelPortaliP84074.
SMRiP84074.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109448. 7 interactors.
IntActiP84074. 1 interactor.
STRINGi9606.ENSP00000362566.

PTM databases

iPTMnetiP84074.
PhosphoSitePlusiP84074.
SwissPalmiP84074.

Polymorphism and mutation databases

BioMutaiHPCA.
DMDMi51317406.

Proteomic databases

EPDiP84074.
MaxQBiP84074.
PaxDbiP84074.
PeptideAtlasiP84074.
PRIDEiP84074.

Protocols and materials databases

DNASUi3208.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373467; ENSP00000362566; ENSG00000121905.
GeneIDi3208.
KEGGihsa:3208.
UCSCiuc001bwh.4. human.

Organism-specific databases

CTDi3208.
DisGeNETi3208.
GeneCardsiHPCA.
HGNCiHGNC:5144. HPCA.
HPAiCAB012340.
HPA043245.
MIMi142622. gene.
224500. phenotype.
neXtProtiNX_P84074.
OpenTargetsiENSG00000121905.
PharmGKBiPA29417.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0044. Eukaryota.
COG5126. LUCA.
GeneTreeiENSGT00760000118820.
HOGENOMiHOG000233019.
HOVERGENiHBG108179.
InParanoidiP84074.
OMAiDLRENTD.
OrthoDBiEOG091G11T4.
PhylomeDBiP84074.
TreeFamiTF300009.

Miscellaneous databases

GeneWikiiHippocalcin.
GenomeRNAii3208.
PROiP84074.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000121905.
CleanExiHS_HPCA.
GenevisibleiP84074. HS.

Family and domain databases

CDDicd00051. EFh. 2 hits.
Gene3Di1.10.238.10. 3 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR028846. Recoverin.
[Graphical view]
PANTHERiPTHR23055. PTHR23055. 1 hit.
PfamiPF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
[Graphical view]
SMARTiSM00054. EFh. 3 hits.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHPCA_HUMAN
AccessioniPrimary (citable) accession number: P84074
Secondary accession number(s): B2R9T3
, D3DPQ7, P32076, P41211, P70510
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.