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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.

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
GH06F108293 1.1 ENCODE 6.1 +0.2 224 2.4 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 ENSG00000230248 LOC100506224 ENSG00000227072 ENSG00000233908 SNX3 SEC63 PDSS2 LACE1 RPL36AP24
GH06F108941 1.1 Ensembl ENCODE 5.1 +650.3 650323 8.0 ATF1 PKNOX1 CBX3 RAD21 CHAMP1 CBX5 SCRT2 FOS MCM3 ZBTB2 ARMC2-AS1 RNU6-653P ARMC2 LACE1 PIR34191
GH06F108275 0.7 ENCODE 6.3 -18.7 -18655 1.1 MTA2 NR2F1 HLF JUNB YY1 FOSL1 RAD51 TARDBP NR2F6 CREM LACE1 ENSG00000230248 GC06P108293
GH06F108329 0.7 ENCODE 5.4 +36.5 36480 3.2 MTA2 BHLHE40 CEBPB CEBPG RAD21 ZBTB40 TBX21 ZNF121 ZFHX2 JUND LACE1 ENSG00000238055 LOC100506224
GH06F108301 0.7 ENCODE 5.2 +7.4 7443 2.3 CTCF ZNF263 BHLHE40 RAD21 YY1 FOSL1 JUND ATF3 HNF4G ZBTB33 SNX3 OSTM1 NR2E1 SEC63 LACE1 RPL36AP24
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001223931 306 2401 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

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

Antibody Products

  • Abcam antibodies for LACE1
  • Santa Cruz Biotechnology (SCBT) Antibodies for LACE1

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

Inhibitory RNA 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
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 LACE1 gene
Compartment Confidence
mitochondrion 3
cytosol 3
plasma membrane 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 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

Transcripts for LACE1 Gene

Unigene Clusters for LACE1 Gene

Lactation elevated 1:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE 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
chimpanzee
(Pan troglodytes)
Mammalia LACE1 34 35
  • 99.93 (n)
cow
(Bos Taurus)
Mammalia LACE1 34 35
  • 93.06 (n)
dog
(Canis familiaris)
Mammalia LACE1 34 35
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Lace1 34 16 35
  • 87.99 (n)
rat
(Rattus norvegicus)
Mammalia Lace1 34
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia LACE1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LACE1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LACE1 34 35
  • 80.15 (n)
lizard
(Anolis carolinensis)
Reptilia LACE1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lace1 34
  • 69.39 (n)
zebrafish
(Danio rerio)
Actinopterygii lace1a 34 35
  • 67.57 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009867 34
  • 53.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8520 34 35
  • 52.25 (n)
worm
(Caenorhabditis elegans)
Secernentea C30F12.2 34 35
  • 52.81 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AFG1 34 35 37
  • 49.92 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A01947g 34
  • 48.26 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR132C 34
  • 46.71 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30490 34
  • 51.75 (n)
rice
(Oryza sativa)
Liliopsida Os08g0265500 34
  • 50.91 (n)
Os.14911 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC115.02c 34
  • 47.88 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04481 34
  • 47.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6918 35
  • 42 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2052 34
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
rs1007032 -- 108,492,247(+) TGCAG(C/G)TCATC intron-variant
rs10155721 -- 108,429,011(+) atgtc(C/T)agaag intron-variant
rs10214698 -- 108,461,722(+) ccaaa(G/T)tgctg intron-variant
rs10223582 -- 108,358,753(+) ggtcg(C/T)gaact intron-variant
rs10223598 -- 108,309,669(+) ttttt(C/T)tcaac intron-variant

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

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

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

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

No disorders were found for LACE1 Gene.

No data available for MalaCards , 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 64
  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 64
  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 64
  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 64
  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 64

Products for LACE1 Gene

Sources for LACE1 Gene

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