LETMD1 LETM1 domain containing 1 [Homo sapiens] - Gene

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Summary

Official Symbol: LETMD1provided by HGNC
Official Full Name: LETM1 domain containing 1provided by HGNC
Primary source: 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; DKFZp586A011
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]

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Genomic context

Location :: 12q13.12

Sequence :: Chromosome: 12; NC_000012.11 (51442084..51454207)

See LETMD1 in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

HCCR-1 might play a role in the breast tumourigenesis while the overexpression of HCCR-1 induces the obesity probably by inhibiting the cholesterol-lowering effect of ApoE
Title: Dual action of apolipoprotein E-interacting HCCR-1 oncoprotein and its implication for breast cancer and obesity.
The overexpression of HCCR-2 could enhance the division and proliferation of SMMC 7721 cells.
Title: [HCCR-2 enhances the division and proliferation of SMMC 7721 via PI3K/Akt pathway].
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
induces neoplastic cell transformation and epithelial-mesenchymal transdifferentiation
Title: Transdifferentiation-inducing HCCR-1 oncogene.
Treatment of PANC-1 cells with epidermal growth factor increased HCCR-1 protein level via PI3K/Akt/mTOR signaling.
Title: Epidermal growth factor induces HCCR expression via PI3K/Akt/mTOR signaling in PANC-1 pancreatic cancer cells.
TCF and beta-catenin binding plays important roles in HCCR-1 oncogene expression.
Title: TCF/beta-catenin plays an important role in HCCR-1 oncogene expression.
Data indicate that the level of HCCR-1 in breast cancer tissues is correlated with the HER2 overexpression, p53 mutation, and ER/PR status, and determination of HCCR-1 levels as options for HER2 testing is promising although it needs further evaluation.
Title: Oncoprotein HCCR-1 expression in breast cancer is well correlated with known breast cancer prognostic factors including the HER2 overexpression, p53 mutation, and ER/PR status.
These experiments show the biological features of HCCR-1 in the cell, and suggest that uncontrolled expression of HCCR-1 may cause mitochondrial dysfunction.
Title: HCCR-1, a novel oncogene, encodes a mitochondrial outer membrane protein and suppresses the UVC-induced apoptosis.
These results suggest that the HCCR-1 oncogene expression was regulated by the phosphatidylinositol 3-kinase/Akt signaling pathway.
Title: The phosphatidylinositol 3-kinase/Akt pathway regulates the HCCR-1 oncogene expression.
HCCR-2 represents an oncoprotein that is related to breast cancer development and regulation of the p53 tumor suppressor.
Title: Transgenic mouse model for breast cancer: induction of breast cancer in novel oncogene HCCR-2 transgenic mice.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: LETM1 domain-containing protein 1

Names: LETM1 domain-containing protein 1; regulator of TP53; cervical cancer proto-oncogene 2 protein; cervical cancer 1 proto-oncogene protein p40

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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

NG_029858.1 RefSeqGene

Range

5001..17126

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

UniProtKB/TrEMBL

B3KXK7

Conserved Domains (1) summary

pfam07766
Location:79 – 346
Blast Score: 319

LETM1; LETM1-like protein
NM_015416.4 → NP_056231.3 LETM1 domain-containing protein 1 isoform 1

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:79 – 333
Blast Score: 340

LETM1; LETM1-like protein

RNA

NR_045017.1 RNA Sequence

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
NR_045018.1 RNA Sequence

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
NR_045019.1 RNA Sequence

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
NR_045020.1 RNA Sequence

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

51442084..51454207

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

48474668..48486493

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001024668.1: Suppressed sequence

Description

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

Description

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

Description

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

Description

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

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087884.18 (109045..121168)	None
genomic	CH471111.1	EAW58166.1
		EAW58167.1
		EAW58168.1
		EAW58169.1
		EAW58170.1
		EAW58171.1
		EAW58172.1
mRNA	AF195651.2	AAK34885.1
mRNA	AF315598.1	AAL26878.1
mRNA	AF329277.1	AAL56993.1
mRNA	AI313513.1	None
mRNA	AK000639.1	None
mRNA	AK057866.1	None
mRNA	AK123080.1	None
mRNA	AK126372.1	None
mRNA	AK127540.1	BAG54519.1
mRNA	AK225836.1	None
mRNA	AK301898.1	BAH13580.1
mRNA	AK301955.1	BAH13594.1
mRNA	AK304707.1	BAH14243.1
mRNA	AK315119.1	BAG37574.1
mRNA	AL050286.1	CAB43387.2
mRNA	AY259835.1	AAP85624.1
mRNA	AY259836.1	AAP85625.1
mRNA	BC000395.2	AAH00395.2
mRNA	BC019274.1	AAH19274.1
mRNA	BC064943.1	AAH64943.1
mRNA	BM549678.1	None
mRNA	BM998643.1	None
mRNA	BX343550.2	None
mRNA	DA682074.1	None
mRNA	DC357852.1	None
other-genetic	HQ448111.1	ADQ32592.1