• Gene id: 80303

Gene Summary

• Gene Symbol: EFHD1   Gene   UCSC   Ensembl
• Aliases: MST133, MSTP133, PP3051, SWS2
• Gene name: EF-hand domain family member D1
• Alternate names: EF-hand domain-containing protein D1, EF-hand domain-containing protein 1, swiprosin-2,
• Gene location: 2q37.1 (75268006: 75228180)     Exons: 14     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is compose
• OMIM: 611617

Protein Summary

• Protein general information: Q9BUP0  
  • Name: EF hand domain containing protein D1 (EF hand domain containing protein 1) (Swiprosin 2)
  • Length: 239  
  • Mass: 26928
• Sequence:

  MASEELACKLERRLRREEAEESGPQLAPLGAPAPEPKPEPEPPARAPTASADAELSAQLSRRLDINEGAARPRRC
  RVFNPYTEFPEFSRRLIKDLESMFKLYDAGRDGFIDLMELKLMMEKLGAPQTHLGLKSMIKEVDEDFDGKLSFRE
  FLLIFHKAAAGELQEDSGLMALAKLSEIDVALEGVKGAKNFFEAKVQALSSASKFEAELKAEQDERKREEEERRL
  RQAAFQKLKANFNT

• Structural information:
  • Protein Domains: (90..12-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (126..16-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR002048  IPR040365  
  • Prosite: PS50222
  • CDD: cd00051
  • STRING: ENSP00000264059
• Other Databases: GeneCards:  EFHD1  Malacards:  EFHD1

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:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	TAS	cellular component
GO:1900069	regulation of cellular hyperosmotic salinity response	IMP	biological process
GO:0061891	calcium ion sensor activity	IMP	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray