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Aliases for MANSC1 Gene

Aliases for MANSC1 Gene

  • MANSC Domain Containing 1 2 3 5
  • Loss Of Heterozygosity 12 Chromosomal Region 3 Protein 3 4
  • LOH12CR3 3 4
  • MANSC Domain-Containing Protein 1 3
  • 9130403P13Rik 3

External Ids for MANSC1 Gene

Previous GeneCards Identifiers for MANSC1 Gene

  • GC12M012374
  • GC12M012375
  • GC12M012482
  • GC12M012247

Summaries for MANSC1 Gene

GeneCards Summary for MANSC1 Gene

MANSC1 (MANSC Domain Containing 1) is a Protein Coding gene.

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 MANSC1 Gene

Genomics for MANSC1 Gene

Regulatory Elements for MANSC1 Gene

Enhancers for MANSC1 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
GH12F012349 0.9 FANTOM5 ENCODE 15.6 +0.0 6 2.9 HDGF ATF1 PKNOX1 ARID4B SIN3A GLI4 ZNF48 ZNF2 ZNF121 GLIS2 DDX47 MANSC1 LOH12CR2 BCL2L14 GC12P012340
GH12F012378 1.4 FANTOM5 Ensembl ENCODE 11.8 -29.8 -29804 3.1 PKNOX1 MLX RAD21 RARA CREM MIXL1 TBX21 ZFP41 GLIS1 IKZF1 CDKN1B DUSP16 MANSC1 ENSG00000240424 BORCS5 APOLD1 BCL2L14 GC12M012376 GC12P012364
GH12F012383 0.9 Ensembl ENCODE 11.8 -34.3 -34271 2.1 TBP MLX ARID4B DMAP1 ZSCAN9 RARA YY1 GATA4 CREM MIXL1 DDX47 MANSC1 DUSP16 ENSG00000240424 GPR19 CDKN1B BORCS5 GC12M012376 GC12M012364
GH12F012327 1.3 Ensembl ENCODE 11.7 +22.6 22567 1.2 CTCF RAD21 RFX5 ZNF366 ZNF143 SMC3 ETV6 MIXL1 ZNF263 SRF BORCS5 LOH12CR2 MANSC1 CDKN1B LRP6 RPL23AP66 GC12M012310
GH12F012376 0.8 Ensembl ENCODE 11.4 -26.3 -26261 0.4 CTCF CEBPG RAD21 RFX5 YY1 SMC3 MIXL1 THAP11 GATAD2A ZNF654 MANSC1 ENSG00000240424 DUSP16 CDKN1B GPR19 APOLD1 LOC105369663 GC12M012376 GC12P012364
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MANSC1 on UCSC Golden Path with GeneCards custom track

Promoters for MANSC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000086989 441 1401 HDGF PKNOX1 ARID4B GLI4 ZNF48 ZNF2 ZNF121 GLIS2 ZNF548 ZNF202

Genomic Location for MANSC1 Gene

Chromosome:
12
Start:
12,326,056 bp from pter
End:
12,350,541 bp from pter
Size:
24,486 bases
Orientation:
Minus strand

Genomic View for MANSC1 Gene

Genes around MANSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MANSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MANSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MANSC1 Gene

Proteins for MANSC1 Gene

  • Protein details for MANSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8J5-MANS1_HUMAN
    Recommended name:
    MANSC domain-containing protein 1
    Protein Accession:
    Q9H8J5
    Secondary Accessions:
    • Q8NEC1
    • Q9NW60

    Protein attributes for MANSC1 Gene

    Size:
    431 amino acids
    Molecular mass:
    46810 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MANSC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MANSC1 Gene

Post-translational modifications for MANSC1 Gene

  • Glycosylation at Asn 72, Thr 127, Ser 147, Thr 151, Ser 161, Ser 178, Asn 222, Asn 251, Asn 327, and Asn 352
  • Modification sites at PhosphoSitePlus

Other Protein References for MANSC1 Gene

No data available for DME Specific Peptides for MANSC1 Gene

Domains & Families for MANSC1 Gene

Protein Domains for MANSC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H8J5

UniProtKB/Swiss-Prot:

MANS1_HUMAN :
  • Contains 1 MANSC domain.
Domain:
  • Contains 1 MANSC domain.
genes like me logo Genes that share domains with MANSC1: view

No data available for Gene Families for MANSC1 Gene

Function for MANSC1 Gene

genes like me logo Genes that share phenotypes with MANSC1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MANSC1

miRNA for MANSC1 Gene

miRTarBase miRNAs that target MANSC1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 MANSC1 Gene

Localization for MANSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MANSC1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MANSC1 Gene COMPARTMENTS Subcellular localization image for MANSC1 gene
Compartment Confidence
cytosol 3
plasma membrane 3
golgi apparatus 2
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MANSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MANSC1: view

Pathways & Interactions for MANSC1 Gene

SuperPathways for MANSC1 Gene

No Data Available

Interacting Proteins for MANSC1 Gene

Gene Ontology (GO) - Biological Process for MANSC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MANSC1 Gene

Transcripts for MANSC1 Gene

Unigene Clusters for MANSC1 Gene

MANSC domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MANSC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for MANSC1 Gene

GeneLoc Exon Structure for
MANSC1
ECgene alternative splicing isoforms for
MANSC1

Expression for MANSC1 Gene

mRNA expression in normal human tissues for MANSC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MANSC1 Gene

This gene is overexpressed in Whole Blood (x7.1).

Protein differential expression in normal tissues from HIPED for MANSC1 Gene

This gene is overexpressed in Stomach (30.3), Salivary gland (18.1), Breast (6.7), and Monocytes (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MANSC1 Gene



NURSA nuclear receptor signaling pathways regulating expression of MANSC1 Gene:

MANSC1

SOURCE GeneReport for Unigene cluster for MANSC1 Gene:

Hs.591145

mRNA Expression by UniProt/SwissProt for MANSC1 Gene:

Q9H8J5-MANS1_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with MANSC1: view

Primer Products

No data available for Protein tissue co-expression partners for MANSC1 Gene

Orthologs for MANSC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MANSC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MANSC1 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia MANSC1 34 35
  • 79.74 (n)
cow
(Bos Taurus)
Mammalia MANSC1 34 35
  • 75.04 (n)
rat
(Rattus norvegicus)
Mammalia Mansc1 34
  • 71.12 (n)
mouse
(Mus musculus)
Mammalia Mansc1 34 16 35
  • 70.61 (n)
oppossum
(Monodelphis domestica)
Mammalia MANSC1 35
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MANSC1 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves MANSC1 34 35
  • 44.75 (n)
Species where no ortholog for MANSC1 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)
  • 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)
  • 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 MANSC1 Gene

ENSEMBL:
Gene Tree for MANSC1 (if available)
TreeFam:
Gene Tree for MANSC1 (if available)

Paralogs for MANSC1 Gene

No data available for Paralogs for MANSC1 Gene

Variants for MANSC1 Gene

Sequence variations from dbSNP and Humsavar for MANSC1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1043383 -- 12,329,514(-) TAGCT(A/G)AAAAC utr-variant-3-prime
rs10845529 -- 12,347,422(+) ACAGA(G/T)GAAGC intron-variant
rs11054816 -- 12,328,880(+) CTACT(C/T)GGGAG downstream-variant-500B
rs11054817 -- 12,332,665(+) ACAGG(C/T)GCGTG intron-variant
rs11054818 -- 12,335,358(+) CTCCC(C/T)GAGAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MANSC1 Gene

Variant ID Type Subtype PubMed ID
esv2745567 CNV deletion 23290073
nsv1046355 CNV loss 25217958
nsv832332 CNV loss 17160897

Variation tolerance for MANSC1 Gene

Residual Variation Intolerance Score: 76.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MANSC1 Gene

Human Gene Mutation Database (HGMD)
MANSC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MANSC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MANSC1 Gene

Disorders for MANSC1 Gene

Relevant External Links for MANSC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MANSC1

No disorders were found for MANSC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MANSC1 Gene

Publications for MANSC1 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64
  5. The finished DNA sequence of human chromosome 12. (PMID: 16541075) Scherer S.E. … Gibbs R.A. (Nature 2006) 4 64

Products for MANSC1 Gene

Sources for MANSC1 Gene

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