Aliases for MACO1 Gene

Aliases for MACO1 Gene

  • Macoilin 1 2 3 5
  • Transmembrane Protein 57 2 3 4
  • Macoilin 2 3 4
  • TMEM57 3 4
  • Macoilin-1 4
  • MACOILIN 3
  • FLJ10747 2
  • MACO1 5

External Ids for MACO1 Gene

Previous HGNC Symbols for MACO1 Gene

  • TMEM57

Summaries for MACO1 Gene

GeneCards Summary for MACO1 Gene

MACO1 (Macoilin 1) is a Protein Coding gene. Diseases associated with MACO1 include Acrofacial Dysostosis 1, Nager Type and Acrofacial Dysostosis.

UniProtKB/Swiss-Prot Summary for MACO1 Gene

Additional gene information for MACO1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MACO1 Gene

Genomics for MACO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MACO1 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
GH01J025428 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.4 356 4.8 SP1 CREB1 HNRNPL PRDM10 ZNF629 LEF1 IKZF1 ZNF692 POLR2A BACH1 RHCE MACO1 NONHSAG000732.2 SRRM1 CRYBG2 ENSG00000261349 SYF2 RHD RF00017-109 LDLRAP1
GH01J025475 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.1 +44.6 44643 7.4 PRDM10 BACH1 JUND FOXA1 PRDM1 MTA2 PHF21A RELA PKNOX1 TCF12 RHCE RHD MACO1 RSRP1 RF00017-109 NONHSAG000732.2 LDLRAP1
GH01J025467 Enhancer 0.8 Ensembl ENCODE 12.1 +37.0 36978 4.5 RUNX3 FOS FOSL1 PRDM10 JUN TBX21 ZBTB33 MAX ARNT L3MBTL2 RHCE MACO1 RF00017-109 NONHSAG000732.2 LDLRAP1
GH01J025483 Enhancer 0.7 Ensembl 12.1 +54.9 54856 4.2 CTCF PKNOX1 RAD21 ZNF600 EP300 ZBTB2 ZSCAN5C ZNF580 SMC3 ZBTB17 RHCE MACO1 SELENON RF00017-109 MN308921 LDLRAP1
GH01J025522 Enhancer 0.8 Ensembl dbSUPER 10.9 +91.1 91143 0.8 RFX1 IKZF2 YBX1 DPF2 RELB GATAD2B BCL11A NBN IKZF1 BMI1 SELENON MACO1 RHCE ENSG00000233478 piR-43107-003 LDLRAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MACO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MACO1

Genomic Locations for MACO1 Gene

Genomic Locations for MACO1 Gene
chr1:25,430,858-25,500,209
(GRCh38/hg38)
Size:
69,352 bases
Orientation:
Plus strand
chr1:25,757,388-25,826,700
(GRCh37/hg19)
Size:
69,313 bases
Orientation:
Plus strand

Genomic View for MACO1 Gene

Genes around MACO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MACO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MACO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MACO1 Gene

Proteins for MACO1 Gene

  • Protein details for MACO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5G2-MACOI_HUMAN
    Recommended name:
    Macoilin
    Protein Accession:
    Q8N5G2
    Secondary Accessions:
    • B1AK00
    • Q2TLX5
    • Q2TLX6
    • Q9NVG6

    Protein attributes for MACO1 Gene

    Size:
    664 amino acids
    Molecular mass:
    76178 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MACO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MACO1 Gene

Post-translational modifications for MACO1 Gene

  • Glycosylation at Asn452, Asn655, Asn324, and Asn340
  • Ubiquitination at Lys438, Lys579, Lys242, Lys296, and Lys365
  • Modification sites at PhosphoSitePlus

Other Protein References for MACO1 Gene

No data available for DME Specific Peptides for MACO1 Gene

Domains & Families for MACO1 Gene

Gene Families for MACO1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MACO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MACO1 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 57 (MACOI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5G2

UniProtKB/Swiss-Prot:

MACOI_HUMAN :
  • Belongs to the macoilin family.
Family:
  • Belongs to the macoilin family.
genes like me logo Genes that share domains with MACO1: view

Function for MACO1 Gene

Molecular function for MACO1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of neuronal activity.

Phenotypes From GWAS Catalog for MACO1 Gene

Gene Ontology (GO) - Molecular Function for MACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008017 microtubule binding IBA 21873635
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with MACO1: view
genes like me logo Genes that share phenotypes with MACO1: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MACO1 Gene

Localization for MACO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MACO1 Gene

Nucleus membrane. Multi-pass membrane protein. Cell projection, axon. Rough endoplasmic reticulum membrane. Multi-pass membrane protein. Note=Detected in the nucleus membrane of non-neuronal cells and in axonal outgrowths of neuronal cells. {ECO:0000250 UniProtKB:Q7TQE6}.

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 MACO1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 3
cytosol 2
extracellular 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS 12459264
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with MACO1: view

Pathways & Interactions for MACO1 Gene

PathCards logo

SuperPathways for MACO1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MACO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IBA 21873635
GO:0007420 brain development IEA --
GO:0023041 neuronal signal transduction IBA,IMP 21589894
genes like me logo Genes that share ontologies with MACO1: view

No data available for Pathways by source and SIGNOR curated interactions for MACO1 Gene

Drugs & Compounds for MACO1 Gene

No Compound Related Data Available

Transcripts for MACO1 Gene

mRNA/cDNA for MACO1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MACO1 Gene

No ASD Table

Relevant External Links for MACO1 Gene

GeneLoc Exon Structure for
MACO1

Expression for MACO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MACO1

Evidence on tissue expression from TISSUES for MACO1 Gene

  • Liver(4.4)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with MACO1: view

No data available for mRNA expression in normal human tissues , 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 MACO1 Gene

Orthologs for MACO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MACO1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TMEM57 30 31
  • 99.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TMEM57 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TMEM57 30 31
  • 94.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TMEM57 30 31
  • 94.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tmem57 30 31
  • 92.02 (n)
OneToOne
Maco1 17
Rat
(Rattus norvegicus)
Mammalia Tmem57 30
  • 91.92 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TMEM57 31
  • 89 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TMEM57 30 31
  • 84.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TMEM57 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem57 30
  • 77.64 (n)
Str.9809 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10082 30
Zebrafish
(Danio rerio)
Actinopterygii tmem57b 31
  • 78 (a)
OneToMany
tmem57a 30 31
  • 74.54 (n)
OneToMany
TMEM57 (3 of 3) 31
  • 43 (a)
OneToMany
zgc56620 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG30389 30 31
  • 51.5 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea maco-1 30 31
  • 45.82 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8754 31
  • 41 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8852 30
Species where no ortholog for MACO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MACO1 Gene

ENSEMBL:
Gene Tree for MACO1 (if available)
TreeFam:
Gene Tree for MACO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MACO1: view image

Paralogs for MACO1 Gene

No data available for Paralogs for MACO1 Gene

Variants for MACO1 Gene

Additional dbSNP identifiers (rs#s) for MACO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MACO1 Gene

Variant ID Type Subtype PubMed ID
esv2570786 CNV deletion 19546169
nsv1113091 CNV deletion 24896259
nsv471819 CNV novel sequence insertion 20440878
nsv474039 CNV novel sequence insertion 20440878
nsv474100 CNV novel sequence insertion 20440878
nsv474866 CNV novel sequence insertion 20440878
nsv477052 CNV novel sequence insertion 20440878
nsv479544 CNV novel sequence insertion 20440878
nsv479656 CNV novel sequence insertion 20440878
nsv479765 CNV novel sequence insertion 20440878
nsv479992 CNV novel sequence insertion 20440878
nsv480070 CNV novel sequence insertion 20440878
nsv480155 CNV novel sequence insertion 20440878
nsv480393 CNV novel sequence insertion 20440878
nsv480469 CNV novel sequence insertion 20440878
nsv480564 CNV novel sequence insertion 20440878
nsv834469 CNV gain+loss 17160897
nsv834480 CNV gain 17160897
nsv9768 CNV gain+loss 18304495

Variation tolerance for MACO1 Gene

Residual Variation Intolerance Score: 7.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MACO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MACO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MACO1 Gene

Disorders for MACO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MACO1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search MACO1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MACO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MACO1 Gene

Publications for MACO1 Gene

  1. Novel and conserved protein macoilin is required for diverse neuronal functions in Caenorhabditis elegans. (PMID: 21589894) Miyara A … Mori I (PLoS genetics 2011) 3 4
  2. Macoilin, a conserved nervous system-specific ER membrane protein that regulates neuronal excitability. (PMID: 21437263) Arellano-Carbajal F … de Bono M (PLoS genetics 2011) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Identification of a novel brain-specific and Reelin-regulated gene that encodes a protein colocalized with synapsin. (PMID: 15255972) Kuvbachieva A … Simonneau M (The European journal of neuroscience 2004) 2 3

Products for MACO1 Gene

  • Signalway ELISA kits for MACO1

Sources for MACO1 Gene