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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

Calcium-binding protein that may play a role in the regulation of voltage-dependent calcium channels (PubMed:28398555). May also play a role in cyclic-nucleotide-mediated signaling through the regulation of adenylate and guanylate cyclases (By similarity).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi73 – 841Combined sources1 PublicationAdd BLAST12
Calcium bindingi109 – 1202Combined sources1 PublicationAdd BLAST12
Calcium bindingi157 – 1683Combined sources1 PublicationAdd BLAST12

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • calcium ion binding Source: UniProtKB
  • identical protein binding Source: UniProtKB
  • kinase binding Source: Ensembl

GO - Biological processi

Keywordsi

LigandCalcium, Metal-binding

Names & Taxonomyi

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

Organism-specific databases

EuPathDBiHostDB:ENSG00000121905.9.
HGNCiHGNC:5144. HPCA.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Dystonia 2, torsion, autosomal recessive (DYT2)2 Publications
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; no effect on protein localization; no effect on protein abundance; no effect on protein stability; no effect on protein 3D structure; decreased oligomerization; changed calcium-binding; effect on cooperativity for calcium-binding; no effect on affinity for calcium; no effect on interaction with voltage-dependent calcium channels. 2 PublicationsCorresponds to variant dbSNP:rs775863165Ensembl.1
Natural variantiVAR_07380475N → K in DYT2. 1 PublicationCorresponds to variant dbSNP:rs786205675Ensembl.1
Natural variantiVAR_073805190A → T in DYT2; no effect on protein localization; no effect on protein abundance; no effect on protein stability; no effect on protein 3D structure; decreased oligomerization; no effect on calcium-binding; no effect on affinity for calcium; increased interaction with voltage-dependent calcium channels. 2 PublicationsCorresponds to variant dbSNP:rs550921485Ensembl.1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi3208.
MalaCardsiHPCA.
MIMi224500. phenotype.
OpenTargetsiENSG00000121905.
PharmGKBiPA29417.

Polymorphism and mutation databases

BioMutaiHPCA.
DMDMi51317406.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
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 association 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

Subunit structurei

Oligomer; oligomerization is calcium-dependent (PubMed:28398555). May interact with the voltage-dependent P/Q- and N-type calcium channels CACNA1A and CACNA1B (PubMed:28398555).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PRR35P0CG204EBI-12197079,EBI-11986293

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • identical protein binding Source: UniProtKB
  • kinase binding Source: Ensembl

Protein-protein interaction databases

BioGridi109448. 7 interactors.
IntActiP84074. 7 interactors.
STRINGi9606.ENSP00000362566.

Structurei

Secondary structure

1193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi10 – 18Combined sources9
Beta strandi19 – 21Combined sources3
Helixi24 – 37Combined sources14
Beta strandi41 – 44Combined sources4
Helixi45 – 53Combined sources9
Helixi58 – 72Combined sources15
Beta strandi77 – 81Combined sources5
Helixi82 – 94Combined sources13
Helixi97 – 108Combined sources12
Beta strandi113 – 117Combined sources5
Helixi118 – 132Combined sources15
Turni133 – 135Combined sources3
Beta strandi140 – 142Combined sources3
Helixi145 – 153Combined sources9
Turni154 – 156Combined sources3
Beta strandi161 – 164Combined sources4
Helixi166 – 173Combined sources8
Helixi177 – 183Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5G4PX-ray2.42A/E1-193[»]
5G58X-ray2.54A/E1-193[»]
5M6CX-ray3.00A/E1-193[»]
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

Domaini

Binds 3 calcium via EF-hand domains. The cryptic EF-hand 1 does not bind calcium.1 Publication

Sequence similaritiesi

Belongs to the recoverin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

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

Family and domain databases

CDDicd00051. EFh. 2 hits.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
PfamiView protein in Pfam
PF00036. EF-hand_1. 1 hit.
PF13499. EF-hand_7. 1 hit.
SMARTiView protein in SMART
SM00054. EFh. 3 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiView protein in PROSITE
PS00018. EF_HAND_1. 3 hits.
PS50222. EF_HAND_2. 3 hits.

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 dbSNP:rs11554958Ensembl.1
Natural variantiVAR_07380371T → N in DYT2; no effect on protein localization; no effect on protein abundance; no effect on protein stability; no effect on protein 3D structure; decreased oligomerization; changed calcium-binding; effect on cooperativity for calcium-binding; no effect on affinity for calcium; no effect on interaction with voltage-dependent calcium channels. 2 PublicationsCorresponds to variant dbSNP:rs775863165Ensembl.1
Natural variantiVAR_07380475N → K in DYT2. 1 PublicationCorresponds to variant dbSNP:rs786205675Ensembl.1
Natural variantiVAR_073805190A → T in DYT2; no effect on protein localization; no effect on protein abundance; no effect on protein stability; no effect on protein 3D structure; decreased oligomerization; no effect on calcium-binding; no effect on affinity for calcium; increased interaction with voltage-dependent calcium channels. 2 PublicationsCorresponds to variant dbSNP:rs550921485Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiHPCA_HUMAN
AccessioniPrimary (citable) accession number: P84074
Secondary accession number(s): B2R9T3
, D3DPQ7, P32076, P41211, P70510
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 23, 2007
Last modified: November 22, 2017
This is version 119 of the entry and version 2 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families