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

    Gene ID: 54682, updated on 2-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001363613.2NP_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:1283
      MANEC; The MANEC domain, formerly called MANSC
      cl25495
      Location:186374
      Endomucin; Endomucin
    2. NM_018050.4NP_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:24117
      MANEC; The MANEC domain, formerly called MANSC
      PHA03255
      Location:220408
      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)