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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
  • 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 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 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

ENSRs around MANSC1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for MANSC1 Gene at MOPED

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

InterPro:
Blocks:
ProtoNet:

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

Phenotypes 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

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

No data available for Gene Ontology (GO) - Cellular Components for MANSC1 Gene

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

Drugs & Compounds for MANSC1 Gene

No Compound Related Data Available

Transcripts for MANSC1 Gene

Unigene Clusters for MANSC1 Gene

MANSC domain containing 1:
Representative Sequences:

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, MOPED, and MaxQB for MANSC1 Gene



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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia MANSC1 35
  • 75.04 (n)
  • 63.17 (a)
MANSC1 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MANSC1 35
  • 79.74 (n)
  • 67.98 (a)
MANSC1 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mansc1 35
  • 70.61 (n)
  • 62.32 (a)
Mansc1 16
Mansc1 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MANSC1 35
  • 99.15 (n)
  • 99.07 (a)
MANSC1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mansc1 35
  • 71.12 (n)
  • 60.38 (a)
oppossum
(Monodelphis domestica)
Mammalia MANSC1 36
  • 43 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MANSC1 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves MANSC1 35
  • 44.75 (n)
  • 34.25 (a)
MANSC1 36
  • 25 (a)
OneToOne
Species with no ortholog for MANSC1:
  • 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
rs3741798 - 12,343,152(-) AGCCC(A/G)TATAT reference, missense
rs3741803 - 12,330,200(+) CTGAT(A/T)TTCTG reference, missense
rs17375215 - 12,330,830(+) GATAT(C/T)GGTGG reference, missense
rs34668262 - 12,330,902(+) TAAGA(C/G)AGAAT reference, missense
rs2076985 -- 12,334,619(-) GTAAT(A/G)AAGTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832332 CNV Loss 17160897
esv2745567 CNV Deletion 23290073
nsv898807 CNV Gain 21882294
nsv898808 CNV Gain 21882294
nsv898809 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
MANSC1
Human Gene Mutation Database (HGMD)
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 67
  2. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. 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
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for MANSC1 Gene

Sources for MANSC1 Gene

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