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Aliases for ATP5MPL Gene

Aliases for ATP5MPL Gene

  • ATP Synthase Membrane Subunit 6.8PL 2 3 5
  • 6.8-KDa Proteolipid With N-Terminal Sequence Met-Leu-Gln (MLQ) 2 3
  • 6.8 KDa Mitochondrial Proteolipid 2 3
  • C14orf2 3 4
  • Chromosome 14 Open Reading Frame 2 2
  • 6.8PL 3
  • MP68 3
  • PLPM 3
  • MLQ 3

External Ids for ATP5MPL Gene

Previous HGNC Symbols for ATP5MPL Gene

  • C14orf2

Summaries for ATP5MPL Gene

GeneCards Summary for ATP5MPL Gene

ATP5MPL (ATP Synthase Membrane Subunit 6.8PL) is a Protein Coding gene.

Additional gene information for ATP5MPL Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5MPL Gene

Genomics for ATP5MPL Gene

GeneHancer (GH) Regulatory Elements for ATP5MPL Gene

Promoters and enhancers for ATP5MPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J103920 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 660.3 +7.0 6994 1.8 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF213 E2F8 ZNF207 ATP5MPL GC14M103921 GC14M103922 XRCC3 TDRD9 BAG5 LINC00638 GC14P103906
GH14J103930 Enhancer 0.7 Ensembl 650.7 -1.9 -1932 0.4 NCOA3 PKNOX1 ESRRA NEUROD1 RARA ZKSCAN1 CTBP1 GATA3 FOS SMARCE1 ATP5MPL TDRD9 RD3L
GH14J103887 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +38.4 38354 4.1 ATF1 FOXA2 ARID4B DMAP1 ZNF48 YY1 FOS RXRA SP5 REST PPP1R13B ATP5MPL KLC1 TDRD9 LOC105370690 ENSG00000269958 TRMT61A GC14P103903
GH14J103909 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.2 +17.8 17813 1.2 PKNOX1 CLOCK ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF143 DEK PAF1 PPP1R13B ENSG00000202275 ATP5MPL ASPG TDRD9 GC14P103906 GC14M103921 GC14M103922
GH14J103931 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.6 -4.5 -4532 3.2 ELF3 SOX13 FOXA2 SAP130 ERF CEBPG RARA ZNF7 TEAD3 POLR2A TDRD9 ATP5MPL ENSG00000202275 RD3L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5MPL on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP5MPL Gene

Genomic Locations for ATP5MPL Gene
chr14:103,912,288-103,928,269
(GRCh38/hg38)
Size:
15,982 bases
Orientation:
Minus strand
chr14:104,378,625-104,394,606
(GRCh37/hg19)
Size:
15,982 bases
Orientation:
Minus strand

Genomic View for ATP5MPL Gene

Genes around ATP5MPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MPL Gene

Proteins for ATP5MPL Gene

  • Protein details for ATP5MPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56378-68MP_HUMAN
    Recommended name:
    6.8 kDa mitochondrial proteolipid
    Protein Accession:
    P56378
    Secondary Accessions:
    • B2R588
    • G3V5Q3
    • Q86TT7

    Protein attributes for ATP5MPL Gene

    Size:
    58 amino acids
    Molecular mass:
    6662 Da
    Quaternary structure:
    • Component of an ATP synthase complex composed of ATP5F1, ATP5MC1, ATP5F1E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5O, ATP5L, USMG5 and MP68.
    SequenceCaution:
    • Sequence=EAW81849.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP5MPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5MPL Gene

Post-translational modifications for ATP5MPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP5MPL Gene

No data available for DME Specific Peptides for ATP5MPL Gene

Domains & Families for ATP5MPL Gene

Gene Families for ATP5MPL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP5MPL Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5MPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56378

UniProtKB/Swiss-Prot:

68MP_HUMAN :
  • Belongs to the small mitochondrial proteolipid family.
Family:
  • Belongs to the small mitochondrial proteolipid family.
genes like me logo Genes that share domains with ATP5MPL: view

Function for ATP5MPL Gene

Phenotypes From GWAS Catalog for ATP5MPL Gene

Gene Ontology (GO) - Molecular Function for ATP5MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with ATP5MPL: view
genes like me logo Genes that share phenotypes with ATP5MPL: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5MPL Gene

Localization for ATP5MPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MPL Gene

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5MPL gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 2
extracellular 2
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli fibrillar center (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATP5MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005753 mitochondrial proton-transporting ATP synthase complex ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP5MPL: view

Pathways & Interactions for ATP5MPL Gene

SuperPathways for ATP5MPL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATP5MPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ATP5MPL: view

No data available for Pathways by source and SIGNOR curated interactions for ATP5MPL Gene

Drugs & Compounds for ATP5MPL Gene

No Compound Related Data Available

Transcripts for ATP5MPL Gene

mRNA/cDNA for ATP5MPL Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MPL Gene

No ASD Table

Relevant External Links for ATP5MPL Gene

GeneLoc Exon Structure for
ATP5MPL
ECgene alternative splicing isoforms for
ATP5MPL

Expression for ATP5MPL Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP5MPL Gene:

ATP5MPL

Evidence on tissue expression from TISSUES for ATP5MPL Gene

  • Blood(4.3)
  • Lung(4.3)
  • Nervous system(3.2)
  • Heart(2.2)
  • Muscle(2.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5MPL Gene

Orthologs for ATP5MPL Gene

This gene was present in the common ancestor of mammals.

Orthologs for ATP5MPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C14H14orf2 33
  • 99.56 (n)
C14orf2 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C21H14orf2 33
  • 85.63 (n)
MP68 34
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8H14orf2 33
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia 2010107E04Rik 34 33
  • 81.03 (n)
OneToOne
Atp5mpl 16
oppossum
(Monodelphis domestica)
Mammalia C14orf2 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C14orf2 34
  • 73 (a)
OneToOne
Species where no ortholog for ATP5MPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ATP5MPL Gene

ENSEMBL:
Gene Tree for ATP5MPL (if available)
TreeFam:
Gene Tree for ATP5MPL (if available)

Paralogs for ATP5MPL Gene

Pseudogenes.org Pseudogenes for ATP5MPL Gene

genes like me logo Genes that share paralogs with ATP5MPL: view

No data available for Paralogs for ATP5MPL Gene

Variants for ATP5MPL Gene

Sequence variations from dbSNP and Humsavar for ATP5MPL Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000300711 -- 103,918,979(-) A/G intron_variant
rs1000332545 -- 103,912,911(-) G/A/C intron_variant
rs1000517685 -- 103,919,070(-) T/C intron_variant
rs1000574277 -- 103,918,829(-) T/G intron_variant
rs1001677731 -- 103,918,607(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5MPL Gene

Variant ID Type Subtype PubMed ID
esv2760013 CNV loss 17122850
nsv1054574 CNV loss 25217958

Variation tolerance for ATP5MPL Gene

Residual Variation Intolerance Score: 65.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MPL Gene

Human Gene Mutation Database (HGMD)
ATP5MPL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5MPL Gene

Disorders for ATP5MPL Gene

Additional Disease Information for ATP5MPL

No disorders were found for ATP5MPL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5MPL Gene

Publications for ATP5MPL Gene

  1. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 58
  2. Organization of Subunits in the Membrane Domain of the Bovine F-ATPase Revealed by Covalent Cross-linking. (PMID: 25851905) Lee J … Walker JE (The Journal of biological chemistry 2015) 2 3 58
  3. Population of ATP synthase molecules in mitochondria is limited by available 6.8-kDa proteolipid protein (MLQ). (PMID: 24330338) Fujikawa M … Yoshida M (Genes to cells : devoted to molecular & cellular mechanisms 2014) 2 3 58
  4. Identification of two proteins associated with mammalian ATP synthase. (PMID: 17575325) Meyer B … Schägger H (Molecular & cellular proteomics : MCP 2007) 2 3 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ATP5MPL Gene

Sources for ATP5MPL Gene

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