EFHD1 - EF-hand domain family member D1 Gene

Also Known as SWS2; MST133; PP3051; MSTP133

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80303

About EFHD1

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:232,606,057-232,682,776 (from NCBI)

This gene has 6 transcripts (splice variants), 143 orthologues and 1 paralogue. Biased expression in kidney (RPKM 68.5), placenta (RPKM 36.8) and 12 other tissues.

Summary

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 composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

EFHD1 Products (3)

mRNA	Protein	Name
NM_001243252.2	NP_001230181.1	EF-hand domain-containing protein D1 isoform 2
NM_001308395.2	NP_001295324.1	EF-hand domain-containing protein D1 isoform 3
NM_025202.4	NP_079478.1	EF-hand domain-containing protein D1 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion sensor activity	IMP IMP: Inferred from mutant phenotype	26975899	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of cellular hyperosmotic salinity response	IMP IMP: Inferred from mutant phenotype	26975899	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EFHD1 Protein Structure

EF-hand_7

0
100
200
239 a.a.

Protein Preferred Names	Protein Names
EF-hand domain-containing protein D1	EF-hand domain-containing protein 1

EFHD1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85668	EFHD1 Antibody (YA5360)	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
Acromelic Frontonasal Dysostosis	AFND Acromelic Frontonasal Dysplasia Frontonasal Dysplasia Acromelic Toriello Syndrome Dysostosis, Acromelic Frontonasal Sweet Syndrome
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Exudative Vitreoretinopathy 2, X-Linked	EVR2 Evrx Fevrx X-Linked Exudative Vitreoretinopathy 2 Exudative Vitreoretinopathy, Familial, 2 Fevr, X-Linked Vitreoretinopathy, Exudative 2 Exudative Vitreoretinopathy Familial 2 Fevr X-Linked X-Linked Familial Exudative Vitreoretinopathy Vitreoretinopathy, Exudative, X-Linked, Type 2 Exudative Vitreoretinopathy, Familial, X-Linked Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04189	EFHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EFHD1	VGNC	VGNC:80193
Mus musculus	EFHD1	MGD	MGI:1921607
Canis familiaris	EFHD1	VGNC	VGNC:59077
Rattus norvegicus	EFHD1	RGD	RGD:1559565
Macaca mulatta	EFHD1	VGNC	VGNC:104524
Bos taurus	EFHD1	VGNC	VGNC:28352