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

Gene ID: 3954, updated on 6-Jul-2014
Official Symbol
LETM1provided by HGNC
Official Full Name
leucine zipper-EF-hand containing transmembrane protein 1provided by HGNC
Primary source
HGNC:6556
See related
Ensembl:ENSG00000168924; HPRD:05101; MIM:604407; Vega:OTTHUMG00000121149
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
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]
See LETM1 in Epigenomics, MapViewer
Location:
4p16.3
Exon count :
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (1811479..1856247, 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 transforming, acidic coiled-coil containing protein 3 Neighboring gene fibroblast growth factor receptor 3 Neighboring gene Wolf-Hirschhorn syndrome candidate 1 Neighboring gene small Cajal body-specific RNA 22 Neighboring gene microRNA 943 Neighboring gene negative elongation factor complex member A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

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

ISCA Genome Curation Page
Triplosensitivity

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

ISCA Genome Curation Page

Protein interactions

Protein Gene Interaction Pubs
Vpr, p15 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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
LETM1 and EF-hand domain-containing protein 1, mitochondrial
Names
LETM1 and EF-hand domain-containing protein 1, mitochondrial
Mdm38 homolog
leucine zipper-EF-hand-containing transmembrane protein 1

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 

    Range
    5001..49769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012318.2NP_036450.1  LETM1 and EF-hand domain-containing protein 1, mitochondrial precursor

    See proteins identical to NP_036450.1

    Status: REVIEWED

    Source sequence(s)
    AC105448, AF061025
    Consensus CDS
    CCDS3355.1
    UniProtKB/Swiss-Prot
    O95202
    Related
    ENSP00000305653, OTTHUMP00000149960, ENST00000302787, OTTHUMT00000241634
    Conserved Domains (2) summary
    pfam07766
    Location:150418
    Blast Score: 1029
    LETM1; LETM1-like protein
    pfam13833
    Location:647691
    Blast Score: 88
    EF-hand_8; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    1811479..1856247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713884.1XP_006713947.1  

    Conserved Domains (2) summary
    pfam07766
    Location:150418
    Blast Score: 1030
    LETM1; LETM1-like protein
    pfam13833
    Location:646690
    Blast Score: 88
    EF-hand_8; EF-hand domain pair
  2. XM_005247970.2XP_005248027.1  

    Conserved Domains (2) summary
    pfam07766
    Location:1113
    Blast Score: 486
    LETM1; LETM1-like protein
    pfam13833
    Location:342386
    Blast Score: 85
    EF-hand_8; EF-hand domain pair

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    1756076..1799634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    1811156..1856557
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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