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LETMD1 LETM1 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 25875, updated on 26-May-2016
Official Symbol
LETMD1provided by HGNC
Official Full Name
LETM1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:24241
See related
Ensembl:ENSG00000050426 HPRD:09978; Vega:OTTHUMG00000169538
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
HCCR1; HCCR-1; HCCR-2; HCRR-2; 1110019O13Rik
Summary
This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]
Orthologs
Location:
12q13.12
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (51048230..51067369)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51442082..51454207)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1C Neighboring gene solute carrier family 11 member 2 Neighboring gene RNA, U7 small nuclear 39 pseudogene Neighboring gene cysteine and serine rich nuclear protein 2 Neighboring gene transcription factor CP2 Neighboring gene ribosomal protein L35a pseudogene 29 Neighboring gene prohibitin pseudogene 19

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp586A011

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosome binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
LETM1 domain-containing protein 1
Names
cervical cancer 1 proto-oncogene protein p40
cervical cancer proto-oncogene 2 protein
regulator of TP53

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_029858.1 RefSeqGene

    Range
    5001..17126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243689.1NP_001230618.1  LETM1 domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001230618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame donor splice site at an internal exon in the 5' coding region compared to variant 1. This results in a longer isoform (3) containing a 13 aa protein segment not found in isoform 1.
    Source sequence(s)
    AK127540, AK225836, BM998643, DC357852
    Consensus CDS
    CCDS58231.1
    UniProtKB/Swiss-Prot
    Q6P1Q0
    Related
    ENSP00000389903, OTTHUMP00000241490, ENST00000418425, OTTHUMT00000404716
    Conserved Domains (1) summary
    pfam07766
    Location:79359
    LETM1; LETM1-like protein
  2. NM_001300765.1NP_001287694.1  LETM1 domain-containing protein 1 isoform 7

    See identical proteins and their annotated locations for NP_001287694.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks three alternate in-frame exons in the central coding region, compared to variant 1. The encoded isoform (7) is shorter than isoform 1.
    Source sequence(s)
    AK225836, BM998643, BX376670, DC357852
    Consensus CDS
    CCDS73469.1
    UniProtKB/TrEMBL
    F8W1Z2
    Related
    ENSP00000447419, OTTHUMP00000241491, ENST00000547008, OTTHUMT00000404718
    Conserved Domains (1) summary
    pfam07766
    Location:125222
    LETM1; LETM1-like protein
  3. NM_015416.4NP_056231.3  LETM1 domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056231.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant protein-coding transcript, and encodes isoform 1 (also known as HCCR-1).
    Source sequence(s)
    AK225836, BC064943, BM998643, DC357852
    Consensus CDS
    CCDS8806.1
    UniProtKB/Swiss-Prot
    Q6P1Q0
    Related
    ENSP00000262055, OTTHUMP00000241487, ENST00000262055, OTTHUMT00000404710
    Conserved Domains (1) summary
    pfam07766
    Location:79346
    LETM1; LETM1-like protein

RNA

  1. NR_045017.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal exon compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF315598, AK225836, BM998643, DA682074
  2. NR_045018.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK225836, BC064943, BM998643, DC357852
    Related
    ENST00000547318, OTTHUMT00000404705
  3. NR_045019.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two consecutive exons compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK225836, BC064943, BM998643, DC357852
  4. NR_045020.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks four consecutive exons compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK225836, BC064943, BM998643, DC357852
    Related
    ENST00000550100, OTTHUMT00000404720

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    51048230..51067369
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538167.1XP_011536469.1  

    Conserved Domains (1) summary
    pfam07766
    Location:79170
    LETM1; LETM1-like protein
  2. XM_011538163.1XP_011536465.1  

    Conserved Domains (1) summary
    pfam07766
    Location:86312
    LETM1; LETM1-like protein
  3. XM_011538162.1XP_011536464.1  

    Conserved Domains (1) summary
    pfam07766
    Location:86318
    LETM1; LETM1-like protein
  4. XM_011538166.1XP_011536468.1  

    Conserved Domains (1) summary
    pfam07766
    Location:127218
    LETM1; LETM1-like protein
  5. XM_011538161.1XP_011536463.1  

    Conserved Domains (1) summary
    pfam07766
    Location:86353
    LETM1; LETM1-like protein
  6. XM_011538165.1XP_011536467.1  

    Conserved Domains (1) summary
    pfam07766
    Location:132229
    LETM1; LETM1-like protein
  7. XM_011538164.1XP_011536466.1  

    Conserved Domains (1) summary
    pfam07766
    Location:100303
    LETM1; LETM1-like protein
  8. XM_006719340.1XP_006719403.1  

    See identical proteins and their annotated locations for XP_006719403.1

    UniProtKB/Swiss-Prot
    Q6P1Q0
    Conserved Domains (1) summary
    pfam07766
    Location:2189
    LETM1; LETM1-like protein
  9. XM_006719338.1XP_006719401.1  

    Conserved Domains (1) summary
    pfam07766
    Location:120211
    LETM1; LETM1-like protein
  10. XM_006719339.1XP_006719402.1  

    See identical proteins and their annotated locations for XP_006719402.1

    UniProtKB/Swiss-Prot
    Q6P1Q0
    Related
    ENSP00000450333, OTTHUMP00000241494, ENST00000552739, OTTHUMT00000404722
    Conserved Domains (1) summary
    pfam07766
    Location:2189
    LETM1; LETM1-like protein
  11. XM_006719335.1XP_006719398.1  

    Related
    ENSP00000449896, OTTHUMP00000241488, ENST00000549340, OTTHUMT00000404711
    Conserved Domains (1) summary
    pfam07766
    Location:93296
    LETM1; LETM1-like protein
  12. XM_006719336.1XP_006719399.1  

    Conserved Domains (1) summary
    pfam07766
    Location:37240
    LETM1; LETM1-like protein

RNA

  1. XR_944516.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    51408361..51420485
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001024668.1: Suppressed sequence

    Description
    NM_001024668.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001024669.1: Suppressed sequence

    Description
    NM_001024669.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_001024670.1: Suppressed sequence

    Description
    NM_001024670.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_001024671.1: Suppressed sequence

    Description
    NM_001024671.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.