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Aliases for TMEM57 Gene

Aliases for TMEM57 Gene

  • Transmembrane Protein 57 2 3 4 5
  • MACOILIN 3

External Ids for TMEM57 Gene

Previous GeneCards Identifiers for TMEM57 Gene

  • GC01P025629
  • GC01P025758
  • GC01P024014

Summaries for TMEM57 Gene

GeneCards Summary for TMEM57 Gene

TMEM57 (Transmembrane Protein 57) is a Protein Coding gene. Diseases associated with TMEM57 include Acrofacial Dysostosis 1, Nager Type.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM57 Gene

Genomics for TMEM57 Gene

Regulatory Elements for TMEM57 Gene

Enhancers for TMEM57 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TMEM57 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM57 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM57 Gene

Chromosome:
1
Start:
25,430,858 bp from pter
End:
25,500,209 bp from pter
Size:
69,352 bases
Orientation:
Plus strand

Genomic View for TMEM57 Gene

Genes around TMEM57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM57 Gene

Proteins for TMEM57 Gene

  • Protein details for TMEM57 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for TMEM57 Gene

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

    Alternative splice isoforms for TMEM57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM57 Gene

Proteomics data for TMEM57 Gene at MOPED

Post-translational modifications for TMEM57 Gene

  • Ubiquitination at Lys 296, Lys 365, Lys 438, and Lys 579
  • Glycosylation at Asn 324, Asn 340, Asn 452, and Asn 655
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM57 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM57 Gene

Domains & Families for TMEM57 Gene

Protein Domains for TMEM57 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM57 Gene

GenScript: Design optimal peptide antigens:

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 TMEM57: view

No data available for Gene Families for TMEM57 Gene

Function for TMEM57 Gene

genes like me logo Genes that share phenotypes with TMEM57: view

Animal Model Products

miRNA for TMEM57 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM57 Gene

Localization for TMEM57 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM57 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM57 Gene COMPARTMENTS Subcellular localization image for TMEM57 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2
golgi apparatus 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMEM57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IEA --
GO:0031965 nuclear membrane ISS 15255972
GO:0045202 synapse ISS 15255972
genes like me logo Genes that share ontologies with TMEM57: view

Pathways & Interactions for TMEM57 Gene

SuperPathways for TMEM57 Gene

No Data Available

Interacting Proteins for TMEM57 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000363463%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000347184%0d%0a
Selected Interacting proteins: Q8N5G2-MACOI_HUMAN ENSP00000363463 for TMEM57 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for TMEM57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMEM57 Gene

Drugs & Compounds for TMEM57 Gene

No Compound Related Data Available

Transcripts for TMEM57 Gene

mRNA/cDNA for TMEM57 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM57 Gene

Transmembrane protein 57:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM57 Gene

No ASD Table

Relevant External Links for TMEM57 Gene

GeneLoc Exon Structure for
TMEM57
ECgene alternative splicing isoforms for
TMEM57

Expression for TMEM57 Gene

mRNA expression in normal human tissues for TMEM57 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMEM57 Gene

This gene is overexpressed in Fetal Brain (12.3), Retina (10.9), Pancreas (6.5), Testis (6.1), and Urinary Bladder (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM57 Gene



SOURCE GeneReport for Unigene cluster for TMEM57 Gene Hs.189782

genes like me logo Genes that share expression patterns with TMEM57: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for TMEM57 Gene

Orthologs for TMEM57 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM57 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMEM57 35
  • 94.83 (n)
  • 99.7 (a)
TMEM57 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM57 35
  • 94.98 (n)
  • 100 (a)
TMEM57 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem57 35
  • 92.02 (n)
  • 99.25 (a)
Tmem57 16
Tmem57 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMEM57 35
  • 99.7 (n)
  • 99.85 (a)
TMEM57 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem57 35
  • 91.92 (n)
  • 98.49 (a)
oppossum
(Monodelphis domestica)
Mammalia TMEM57 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM57 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM57 35
  • 84.59 (n)
  • 94.41 (a)
TMEM57 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM57 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9809 35
tmem57 35
  • 77.64 (n)
  • 90.14 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10082 35
zebrafish
(Danio rerio)
Actinopterygii tmem57a 35
  • 74.54 (n)
  • 84.6 (a)
zgc56620 35
TMEM57 (3 of 3) 36
  • 43 (a)
OneToMany
tmem57a 36
  • 84 (a)
OneToMany
tmem57b 36
  • 78 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30389 35
  • 51.5 (n)
  • 48.26 (a)
CG30389 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea maco-1 35
  • 45.82 (n)
  • 31.55 (a)
maco-1 36
  • 18 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8852 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8754 36
  • 41 (a)
OneToOne
Species with no ortholog for TMEM57:
  • A. gosspyii yeast (Ashbya 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 TMEM57 Gene

ENSEMBL:
Gene Tree for TMEM57 (if available)
TreeFam:
Gene Tree for TMEM57 (if available)

Paralogs for TMEM57 Gene

No data available for Paralogs for TMEM57 Gene

Variants for TMEM57 Gene

Sequence variations from dbSNP and Humsavar for TMEM57 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1137689 -- 25,458,843(+) TAATG(A/G)AAAAC intron-variant, reference, missense
rs1534954 -- 25,435,433(+) AAGTG(A/T)TTAAA intron-variant
rs3208068 -- 25,498,771(+) TTCCT(A/C)TTGAA utr-variant-3-prime
rs4233043 -- 25,438,992(+) TTTAT(A/G)TAGAA intron-variant
rs4649085 -- 25,452,341(+) ACCTA(A/G)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM57 Gene

Variant ID Type Subtype PubMed ID
nsv834469 CNV Gain+Loss 17160897
nsv9768 CNV Gain+Loss 18304495
nsv834480 CNV Gain 17160897
nsv870470 CNV Gain 21882294
nsv870937 CNV Loss 21882294
nsv870664 CNV Loss 21882294
esv2570786 CNV Deletion 19546169

Variation tolerance for TMEM57 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMEM57 Gene

Disorders for TMEM57 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM57 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM57

Genetic Association Database (GAD)
TMEM57
Human Genome Epidemiology (HuGE) Navigator
TMEM57
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM57
genes like me logo Genes that share disorders with TMEM57: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM57 Gene

Publications for TMEM57 Gene

  1. Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (PMID: 21700265) Kullo I.J. … Chute C.G. (Am. J. Hum. Genet. 2011) 3 48 67
  2. Identification of a novel brain-specific and Reelin-regulated gene that encodes a protein colocalized with synapsin. (PMID: 15255972) Kuvbachieva A. … Simonneau M. (Eur. J. Neurosci. 2004) 2 3
  3. Entire sequence of a mouse chromosomal segment containing the gene Rhced and a comparative analysis of the homologous human sequence. (PMID: 12459264) Kumada M. … Kajii E. (Gene 2002) 2 3
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for TMEM57 Gene

Sources for TMEM57 Gene

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