• Gene id: 3241

Gene Summary

• Gene Symbol: HPCAL1   Gene   UCSC   Ensembl
• Aliases: BDR1, HLP2, VILIP-3
• Gene name: hippocalcin like 1
• Alternate names: hippocalcin-like protein 1, calcium-binding protein BDR-1, visinin-like protein 3,
• Gene location: 2p25.1 (63553019: 63556711)     Exons: 5     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may
• OMIM: 600207

Protein Summary

• Protein general information: P37235  
  • Name: Hippocalcin like protein 1 (Calcium binding protein BDR 1) (HLP2) (Visinin like protein 3) (VILIP 3)
  • Length: 193  
  • Mass: 22313
• Sequence:

  MGKQNSKLRPEVLQDLRENTEFTDHELQEWYKGFLKDCPTGHLTVDEFKKIYANFFPYGDASKFAEHVFRTFDTN
  GDGTIDFREFIIALSVTSRGKLEQKLKWAFSMYDLDGNGYISRSEMLEIVQAIYKMVSSVMKMPEDESTPEKRTD
  KIFRQMDTNNDGKLSLEEFIRGAKSDPSIVRLLQCDPSSASQF

• Structural information:
  • Protein Domains: (23..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (60..9-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (96..13-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR028846  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 5T7C
  • PDBsum: 5T7C
  • STRING: ENSP00000483786
• Other Databases: GeneCards:  HPCAL1  Malacards:  HPCAL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq