• Gene id: 3954

Gene Summary

• Gene Symbol: LETM1   Gene   UCSC   Ensembl
• Aliases: SLC55A1
• Gene name: leucine zipper and EF-hand containing transmembrane protein 1
• Alternate names: mitochondrial proton/calcium exchanger protein, LETM1 and EF-hand domain-containing protein 1, mitochondrial, Mdm38 homolog, leucine zipper-EF-hand containing transmembrane protein 1,
• Gene location: 4p16.3 (1856155: 1811478)     Exons: 14     NC_000004.12
• Gene summary(Entrez): This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause
• OMIM: 602576

Protein Summary

• Protein general information: O95202  
  • Name: Mitochondrial proton/calcium exchanger protein (Leucine zipper EF hand containing transmembrane protein 1)
  • Length: 739  
  • Mass: 83354
• Sequence:

  MASILLRSCRGRAPARLPPPPRYTVPRGSPGDPAHLSCASTLGLRNCLNVPFGCCTPIHPVYTSSRGDHLGCWAL
  RPECLRIVSRAPWTSTSVGFVAVGPQCLPVRGWHSSRPVRDDSVVEKSLKSLKDKNKKLEEGGPVYSPPAEVVVK
  KSLGQRVLDELKHYYHGFRLLWIDTKIAARMLWRILNGHSLTRRERRQFLRICADLFRLVPFLVFVVVPFMEFLL
  PVAVKLFPNMLPSTFETQSLKEERLKKELRVKLELAKFLQDTIEEMALKNKAAKGSATKDFSVFFQKIRETGERP
  SNEEIMRFSKLFEDELTLDNLTRPQLVALCKLLELQSIGTNNFLRFQLTMRLRSIKADDKLIAEEGVDSLNVKEL
  QAACRARGMRALGVTEDRLRGQLKQWLDLHLHQEIPTSLLILSRAMYLPDTLSPADQLKSTLQTLPEIVAKEAQV
  KVAEVEGEQVDNKAKLEATLQEEAAIQQEHREKELQKRSEVAKDFEPERVVAAPQRPGTEPQPEMPDTVLQSETL
  KDTAPVLEGLKEEEITKEEIDILSDACSKLQEQKKSLTKEKEELELLKEDVQDYSEDLQEIKKELSKTGEEKYVE
  ESKASKRLTKRVQQMIGQIDGLISQLEMDQQAGKLAPANGMPTGENVISVAELINAMKQVKHIPESKLTSLAAAL
  DENKDGKVNIDDLVKVIELVDKEDVHISTSQVAEIVATLEKEEKVEEKEKAKEKAEKEVAEVKS

• Structural information:
  • Protein Domains: (252..53-)
    (/note="Letm1-RBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01094-)
    (663..69-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR011685  IPR033122  
  • Prosite: PS00018 PS50222 PS51758
  • STRING: ENSP00000305653
• Other Databases: GeneCards:  LETM1  Malacards:  LETM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006875	cellular metal ion homeostasis	IBA	biological process
GO:0015369	calcium:proton antiporter activity	IDA	molecular function
GO:0051560	mitochondrial calcium ion homeostasis	IDA	biological process
GO:0099093	calcium export from the mitochondrion	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IDA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0051260	protein homooligomerization	ISS	biological process
GO:0034214	protein hexamerization	ISS	biological process
GO:0042407	cristae formation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0043022	ribosome binding	IEA	molecular function
GO:0015297	antiporter activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	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:0099093	calcium export from the mitochondrion	IEA	biological process
GO:0051560	mitochondrial calcium ion homeostasis	IEA	biological process
GO:0015369	calcium:proton antiporter activity	IEA	molecular function
GO:0051260	protein homooligomerization	IEA	biological process
GO:0034214	protein hexamerization	IEA	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005509	calcium ion binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0051562	negative regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:1900069	regulation of cellular hyperosmotic salinity response	IMP	biological process

Diseases

Associated diseases	References
4p deletion syndrome	KEGG:H01773
4p deletion syndrome	KEGG:H01773
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq