MPV17L MPV17 mitochondrial inner membrane protein like [Homo sapiens (human)] - Gene

Summary

Official Symbol: MPV17Lprovided by HGNC
Official Full Name: MPV17 mitochondrial inner membrane protein likeprovided by HGNC
Primary source: HGNC:HGNC:26827
See related: Ensembl:ENSG00000156968 MIM:618100; AllianceGenome:HGNC:26827
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: M-LPH; MLPH1; MLPH2; M-LPH1; M-LPH2; MPV17L1
Summary: Involved in negative regulation of hydrogen peroxide biosynthetic process; negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; and reactive oxygen species metabolic process. Located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in kidney (RPKM 1.8), duodenum (RPKM 1.5) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (15395754..15413271)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (15400550..15418071)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (15489611..15507128)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix.
Title: Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix.
these observations suggest that M-LPH is involved in the maintenance of mtDNA and protects cells from mitochondrial dysfunction.
Title: Identification of interacting partners of Human Mpv17-like protein with a mitigating effect of mitochondrial dysfunction through mtDNA damage.

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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

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

GDB:312794 (e-PCR)
- UniSTS:30247

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

L17877 (e-PCR)
- UniSTS:61334

Readthrough MPV17L-BMERB1

Readthrough gene: MPV17L-BMERB1, Included gene: BMERB1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in negative regulation of hydrogen peroxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mpv17-like protein

Names: Human Mpv17-like protein; M-LP homolog; MPV17 mitochondrial membrane protein-like; Mpv17-like protein type 1; Mpv17-like protein type 2

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.

mRNA and Protein(s)

NM_001128423.2 → NP_001121895.1 mpv17-like protein isoform 1

See identical proteins and their annotated locations for NP_001121895.1

Status: VALIDATED

Description

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

Source sequence(s)

AC140504, BM838624, DQ004255

Consensus CDS

CCDS45421.1

UniProtKB/Swiss-Prot

B4DDY1, Q2QL34, Q6P7T6, Q8N8E9

Related

ENSP00000379669.3, ENST00000396385.4

Conserved Domains (1) summary

pfam04117
Location:107 → 166

Mpv17_PMP22; Mpv17 / PMP22 family
NM_173803.4 → NP_776164.2 mpv17-like protein isoform 2

See identical proteins and their annotated locations for NP_776164.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate segment, which shifts the reading frame, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus when it is compared to isoform 1.

Source sequence(s)

AC140504, BM838624, DQ004256

Consensus CDS

CCDS10560.1

UniProtKB/Swiss-Prot

Q2QL34

Related

ENSP00000287594.6, ENST00000287594.7