• Gene id: 3270

Gene Summary

• Gene Symbol: HRC   Gene   UCSC   Ensembl
• Gene name: histidine rich calcium binding protein
• Alternate names: sarcoplasmic reticulum histidine-rich calcium-binding protein,
• Gene location: 19q13.33 (49155463: 49151197)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcopl
• OMIM: 602155

Protein Summary

• Protein general information: P23327  
  • Name: Sarcoplasmic reticulum histidine rich calcium binding protein
  • Length: 699  
  • Mass: 80244
• Sequence:

  MGHHRPWLHASVLWAGVASLLLPPAMTQQLRGDGLGFRNRNNSTGVAGLSEEASAELRHHLHSPRDHPDENKDVS
  TENGHHFWSHPDREKEDEDVSKEYGHLLPGHRSQDHKVGDEGVSGEEVFAEHGGQARGHRGHGSEDTEDSAEHRH
  HLPSHRSHSHQDEDEDEVVSSEHHHHILRHGHRGHDGEDDEGEEEEEEEEEEEEASTEYGHQAHRHRGHGSEEDE
  DVSDGHHHHGPSHRHQGHEEDDDDDDDDDDDDDDDDVSIEYRHQAHRHQGHGIEEDEDVSDGHHHRDPSHRHRSH
  EEDDNDDDDVSTEYGHQAHRHQDHRKEEVEAVSGEHHHHVPDHRHQGHRDEEEDEDVSTERWHQGPQHVHHGLVD
  EEEEEEEITVQFGHYVASHQPRGHKSDEEDFQDEYKTEVPHHHHHRVPREEDEEVSAELGHQAPSHRQSHQDEET
  GHGQRGSIKEMSHHPPGHTVVKDRSHLRKDDSEEEKEKEEDPGSHEEDDESSEQGEKGTHHGSRDQEDEEDEEEG
  HGLSLNQEEEEEEDKEEEEEEEDEERREERAEVGAPLSPDHSEEEEEEEEGLEEDEPRFTIIPNPLDRREEAGGA
  SSEEESGEDTGPQDAQEYGNYQPGSLCGYCSFCNRCTECESCHCDEENMGEHCDQCQHCQFCYLCPLVCETVCAP
  GSYVDYFSSSLYQALADMLETPEP

• Structural information:
  • Interpro: IPR019552  IPR015666  
  • STRING: ENSP00000252825
• Other Databases: GeneCards:  HRC  Malacards:  HRC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030018	Z disc	IDA	cellular component
GO:0033135	regulation of peptidyl-serine phosphorylation	IGI	biological process
GO:1903169	regulation of calcium ion transmembrane transport	IGI	biological process
GO:0002027	regulation of heart rate	IMP	biological process
GO:0010460	positive regulation of heart rate	IGI	biological process
GO:1901899	positive regulation of relaxation of cardiac muscle	IGI	biological process
GO:1901844	regulation of cell communication by electrical coupling involved in cardiac conduction	IGI	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IGI	biological process
GO:0045823	positive regulation of heart contraction	IGI	biological process
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	IGI	biological process
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IGI	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	biological process
GO:0033018	sarcoplasmic reticulum lumen	TAS	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq