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LETM1 leucine zipper and EF-hand containing transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 3954, updated on 1-Jun-2020

Summary

Official Symbol
LETM1provided by HGNC
Official Full Name
leucine zipper and EF-hand containing transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:6556
See related
Ensembl:ENSG00000168924 MIM:604407
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLC55A1
Summary
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 Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in colon (RPKM 12.1), kidney (RPKM 9.6) and 25 other tissues See more
Orthologs

Genomic context

See LETM1 in Genome Data Viewer
Location:
4p16.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1811479..1856156, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1813206..1857974, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr4.260 Neighboring gene fibroblast growth factor receptor 3 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene Neighboring gene nuclear receptor binding SET domain protein 2 Neighboring gene small Cajal body-specific RNA 22

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
4p partial monosomy syndrome
MedGen: C1956097 OMIM: 194190 GeneReviews: Wolf-Hirschhorn Syndrome
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-02-03)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-02-03)

ClinGen Genome Curation Page

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of leucine zipper-EF-hand containing transmembrane protein 1 (LETM1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
calcium:proton antiporter activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosome binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium export from the mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
cellular metal ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of mitochondrial calcium ion concentration IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein hexamerization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cellular hyperosmotic salinity response IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
mitochondrial proton/calcium exchanger protein
Names
LETM1 and EF-hand domain-containing protein 1, mitochondrial
Mdm38 homolog
leucine zipper-EF-hand containing transmembrane protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013063.1 RefSeqGene

    Range
    5092..49769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012318.3NP_036450.1  mitochondrial proton/calcium exchanger protein precursor

    See identical proteins and their annotated locations for NP_036450.1

    Status: REVIEWED

    Source sequence(s)
    AC105448, AF061025
    Consensus CDS
    CCDS3355.1
    UniProtKB/Swiss-Prot
    O95202
    Related
    ENSP00000305653.2, ENST00000302787.3
    Conserved Domains (1) summary
    pfam07766
    Location:155410
    LETM1; LETM1-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1811479..1856156 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713884.1XP_006713947.1  mitochondrial proton/calcium exchanger protein isoform X1

    Conserved Domains (1) summary
    pfam07766
    Location:155410
    LETM1; LETM1-like protein
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