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Aliases for LACE1 Gene

Aliases for LACE1 Gene

  • Lactation Elevated 1 2 3 5
  • AFG1 3 4
  • ATPase Family Gene 1 Homolog (S. Cerevisiae) 2
  • ATPase Family Gene 1 Homolog 3
  • Lactation Elevated Protein 1 3
  • Protein AFG1 Homolog 4
  • CG8520 Gene Product 3
  • C222389 3

External Ids for LACE1 Gene

Previous GeneCards Identifiers for LACE1 Gene

  • GC06P108480
  • GC06P108638
  • GC06P108661
  • GC06P108722
  • GC06P108616
  • GC06P106183

Summaries for LACE1 Gene

Entrez Gene Summary for LACE1 Gene

  • This gene encodes a mitochondrial integral membrane protein that plays a role in mitochondrial protein homeostasis. The protein contains a P-loop motif and a five-domain structure that is conserved in fly, yeast, and bacteria. It functions to mediate the degradation of nuclear-encoded complex IV subunits. Two conserved estrogen receptor binding sites are located within 2.5 kb of this gene. Polymorphisms in this gene have been associated with bipolar disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]

GeneCards Summary for LACE1 Gene

LACE1 (Lactation Elevated 1) is a Protein Coding gene. Diseases associated with LACE1 include Bipolar Disorder.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LACE1 Gene

Genomics for LACE1 Gene

Regulatory Elements for LACE1 Gene

Enhancers for LACE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around LACE1 on UCSC Golden Path with GeneCards custom track

Promoters for LACE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for LACE1 Gene

Chromosome:
6
Start:
108,294,894 bp from pter
End:
108,526,796 bp from pter
Size:
231,903 bases
Orientation:
Plus strand

Genomic View for LACE1 Gene

Genes around LACE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LACE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LACE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LACE1 Gene

Proteins for LACE1 Gene

  • Protein details for LACE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV93-LACE1_HUMAN
    Recommended name:
    Lactation elevated protein 1
    Protein Accession:
    Q8WV93
    Secondary Accessions:
    • Q8N6A3

    Protein attributes for LACE1 Gene

    Size:
    481 amino acids
    Molecular mass:
    54845 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LACE1 Gene

Post-translational modifications for LACE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LACE1 Gene

No data available for DME Specific Peptides for LACE1 Gene

Domains & Families for LACE1 Gene

Protein Domains for LACE1 Gene

Suggested Antigen Peptide Sequences for LACE1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WV93

UniProtKB/Swiss-Prot:

LACE1_HUMAN :
  • Belongs to the AFG1 ATPase family.
Family:
  • Belongs to the AFG1 ATPase family.
genes like me logo Genes that share domains with LACE1: view

No data available for Gene Families for LACE1 Gene

Function for LACE1 Gene

Gene Ontology (GO) - Molecular Function for LACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with LACE1: view
genes like me logo Genes that share phenotypes with LACE1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LACE1 Gene

Localization for LACE1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LACE1 Gene COMPARTMENTS Subcellular localization image for LACE1 gene
Compartment Confidence
cytosol 3
mitochondrion 3
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LACE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with LACE1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LACE1 Gene

Pathways & Interactions for LACE1 Gene

SuperPathways for LACE1 Gene

No Data Available

Interacting Proteins for LACE1 Gene

Gene Ontology (GO) - Biological Process for LACE1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LACE1 Gene

Drugs & Compounds for LACE1 Gene

No Compound Related Data Available

Transcripts for LACE1 Gene

Unigene Clusters for LACE1 Gene

Lactation elevated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LACE1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
SP1: - -
SP2: -

Relevant External Links for LACE1 Gene

GeneLoc Exon Structure for
LACE1
ECgene alternative splicing isoforms for
LACE1

Expression for LACE1 Gene

mRNA expression in normal human tissues for LACE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LACE1 Gene

This gene is overexpressed in Testis (x4.8).

Protein differential expression in normal tissues from HIPED for LACE1 Gene

This gene is overexpressed in Heart (36.2), Frontal cortex (7.2), and Testis (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LACE1 Gene



NURSA nuclear receptor signaling pathways regulating expression of LACE1 Gene:

LACE1

SOURCE GeneReport for Unigene cluster for LACE1 Gene:

Hs.259666
genes like me logo Genes that share expression patterns with LACE1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LACE1 Gene

Orthologs for LACE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LACE1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LACE1 34
  • 93.06 (n)
  • 93.12 (a)
LACE1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LACE1 34
  • 91.6 (n)
  • 91.67 (a)
LACE1 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lace1 34
  • 87.99 (n)
  • 87.08 (a)
Lace1 16
Lace1 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LACE1 34
  • 99.93 (n)
  • 100 (a)
LACE1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lace1 34
  • 85.83 (n)
  • 86.04 (a)
oppossum
(Monodelphis domestica)
Mammalia LACE1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LACE1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LACE1 34
  • 80.15 (n)
  • 80.46 (a)
LACE1 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LACE1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lace1 34
  • 69.39 (n)
  • 68.83 (a)
zebrafish
(Danio rerio)
Actinopterygii lace1a 34
  • 67.57 (n)
  • 70.2 (a)
lace1a 35
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009867 34
  • 53.13 (n)
  • 49.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8520 34
  • 52.25 (n)
  • 48.5 (a)
CG8520 35
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C30F12.2 34
  • 52.81 (n)
  • 46.94 (a)
C30F12.2 35
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR132C 34
  • 46.71 (n)
  • 42.49 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01947g 34
  • 48.26 (n)
  • 42.04 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG1 34
  • 49.92 (n)
  • 41.5 (a)
AFG1 35
  • 31 (a)
OneToOne
AFG1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30490 34
  • 51.75 (n)
  • 42.89 (a)
rice
(Oryza sativa)
Liliopsida Os.14911 34
Os08g0265500 34
  • 50.91 (n)
  • 44.52 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2052 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04481 34
  • 47.85 (n)
  • 40.89 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC115.02c 34
  • 47.88 (n)
  • 38.18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6918 35
  • 42 (a)
OneToOne
Species where no ortholog for LACE1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LACE1 Gene

ENSEMBL:
Gene Tree for LACE1 (if available)
TreeFam:
Gene Tree for LACE1 (if available)

Paralogs for LACE1 Gene

No data available for Paralogs for LACE1 Gene

Variants for LACE1 Gene

Sequence variations from dbSNP and Humsavar for LACE1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs847595 -- 108,323,895(+) TTGGC(C/T)GTTTG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs861033 -- 108,293,063(-) ttttt(G/T)ttttt upstream-variant-2KB
rs864712 -- 108,310,981(+) AAGAT(A/T)AAGAT intron-variant
rs928220 -- 108,508,835(+) TTTCT(G/T)AAAGA intron-variant
rs928221 -- 108,509,306(+) CTCCA(A/G)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LACE1 Gene

Variant ID Type Subtype PubMed ID
dgv3362n106 CNV deletion 24896259
esv2732558 CNV deletion 23290073
esv2732559 CNV deletion 23290073
esv3435603 CNV insertion 20981092
esv3540290 CNV deletion 23714750
esv3610317 CNV gain 21293372
esv3610318 CNV loss 21293372
esv3610321 CNV loss 21293372
esv3610322 CNV loss 21293372
esv3610323 CNV gain 21293372
nsv1074005 CNV deletion 25765185
nsv1076603 CNV duplication 25765185
nsv1128269 CNV deletion 24896259
nsv1137136 CNV deletion 24896259
nsv604466 CNV loss 21841781
nsv604475 CNV loss 21841781
nsv830766 CNV loss 17160897
nsv830767 CNV gain 17160897

Variation tolerance for LACE1 Gene

Residual Variation Intolerance Score: 70.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.32; 53.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LACE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LACE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LACE1 Gene

Disorders for LACE1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LACE1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • bipolar depression
- elite association - COSMIC cancer census association via MalaCards
Search LACE1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LACE1

Genetic Association Database (GAD)
LACE1
Human Genome Epidemiology (HuGE) Navigator
LACE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LACE1
genes like me logo Genes that share disorders with LACE1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LACE1 Gene

Publications for LACE1 Gene

  1. Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci. (PMID: 12079282) Abrahams B.S. … Venkatesh B. (Genomics 2002) 2 3 4 65
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 65
  5. The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits. (PMID: 26759378) Cesnekova J. … Stiburek L. (Biochem. J. 2016) 3 65

Products for LACE1 Gene

Sources for LACE1 Gene

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