TMEM70 transmembrane protein 70 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM70provided by HGNC
Official Full Name: transmembrane protein 70provided by HGNC
Primary source: HGNC:HGNC:26050
See related: Ensembl:ENSG00000175606 MIM:612418; AllianceGenome:HGNC:26050
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: MC5DN2
Summary: This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in adrenal (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (73976195..73982783)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (74405457..74412045)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (74888430..74895018)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.
Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.
TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel.
Title: TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Title: Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
TMEM70 functions in the assembly of complexes I and V.
Title: TMEM70 functions in the assembly of complexes I and V.
cause of hyperammonemia in TMEM70 deficiency was previously assumed to be related to carbamoyl phosphate synthase 1 deficiency, but our finding of hypercitrullinemia rules out this possibility. We thus propose a different etiology for the hyperammonemia seen in these patients
Title: TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations.
Title: Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
Title: ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood.
Title: TMEM70 deficiency: long-term outcome of 48 patients.
Pulmonary hypertension has rarely been reported in mitochondrial disorders and, so far, it has been described in association with TMEM70 deficiency only in one patient
Title: Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s).
Title: Mitochondrial membrane assembly of TMEM70 protein.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MedGen: C3279699 OMIM: 614052 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2076 (e-PCR)
- UniSTS:23465

WI-15063 (e-PCR)
- UniSTS:60852

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables mitochondrial proton-transporting ATP synthase complex binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial proton-transporting ATP synthase complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial proton-transporting ATP synthase complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial proton-transporting ATP synthase complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein complex oligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial crista	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: transmembrane protein 70, mitochondrial

Names: mitochondrial complex V deficiency, nuclear type 1

NCBI Reference Sequences (RefSeq)

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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_016618.1 RefSeqGene

Range

5054..11642

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040613.3 → NP_001035703.1 transmembrane protein 70, mitochondrial isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

BC002748, BF439499, BM984431, DB483583

Consensus CDS

CCDS47876.1

UniProtKB/TrEMBL

D4PHA6

Related

ENSP00000429467.1, ENST00000517439.1
NM_017866.6 → NP_060336.3 transmembrane protein 70, mitochondrial isoform a

See identical proteins and their annotated locations for NP_060336.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (a).

Source sequence(s)

BC002748, BM984431, DB483583

Consensus CDS

CCDS6215.1

UniProtKB/Swiss-Prot

E9PDY9, Q9BUB7, Q9NWY5

Related

ENSP00000312599.5, ENST00000312184.6

Conserved Domains (1) summary

pfam06979
Location:108 → 232

TMEM70; Assembly, mitochondrial proton-transport ATP synth complex

RNA

NR_033334.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC002748, BM984431, BU542365, DB483583