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    MANSC1 MANSC domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 54682, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MANSC1provided by HGNC
    Official Full Name
    MANSC domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25505
    See related
    Ensembl:ENSG00000111261 AllianceGenome:HGNC:25505
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LOH12CR3; 9130403P13Rik
    Summary
    Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MANSC1 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12326056..12350242, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12195172..12219375, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12478990..12503176, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 6 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12416308-12416808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4251 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12419985-12420621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12436705-12437246 Neighboring gene RNA, U6 small nuclear 318, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12478241-12478741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4252 Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene ribosomal protein L23a pseudogene 66 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12509797-12510475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6011 Neighboring gene loss of heterozygosity on chromosome 12, region 2 Neighboring gene Sharpr-MPRA regulatory region 10643 Neighboring gene BLOC-1 related complex subunit 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12560630-12560819 Neighboring gene Sharpr-MPRA regulatory region 7135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12592110-12593309 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25257 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    2. EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation. Wang L, et al. Nat Commun, 2022 Jan 10. PMID 35013218, Free PMC Article
    3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10298

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MANSC domain-containing protein 1
    Names
    loss of heterozygosity 12 chromosomal region 3 protein
    NP_001350542.1
    NP_060520.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363613.2 → NP_001350542.1  MANSC domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC007621
      Consensus CDS
      CCDS86284.1
      UniProtKB/TrEMBL
      B4DQ82
      Related
      ENSP00000379638.3, ENST00000396349.3
      Conserved Domains (2) summary
      smart00765
      Location:12 → 83
      MANEC; The MANEC domain, formerly called MANSC
      cl25495
      Location:186 → 374
      Endomucin; Endomucin

    2. NM_018050.4 → NP_060520.2  MANSC domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060520.2

      Status: VALIDATED

      Source sequence(s)
      AC007621, AK023622
      Consensus CDS
      CCDS8648.1
      UniProtKB/Swiss-Prot
      Q8NEC1, Q9H8J5, Q9NW60
      UniProtKB/TrEMBL
      B4DQ82
      Related
      ENSP00000438205.1, ENST00000535902.6
      Conserved Domains (2) summary
      smart00765
      Location:24 → 117
      MANEC; The MANEC domain, formerly called MANSC
      PHA03255
      Location:220 → 408
      PHA03255; BDLF3; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      12326056..12350242 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332696.1 Reference GRCh38.p14 PATCHES

      Range
      295054..319240 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      12195172..12219375 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8J5.1 GenPept UniProtKB/Swiss-Prot:Q9H8J5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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