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    SAPCD1 suppressor APC domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 401251, updated on 19-Sep-2024

    Summary

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    Official Symbol
    SAPCD1provided by HGNC
    Official Full Name
    suppressor APC domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:13938
    See related
    Ensembl:ENSG00000228727 AllianceGenome:HGNC:13938
    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
    NG23; C6orf26
    Expression
    Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 6.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SAPCD1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31762656..31764850)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31615703..31617897)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31730433..31732627)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:31701615-31702814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31704508-31705382 Neighboring gene chloride intracellular channel 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31707224-31707854 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31707855-31708486 Neighboring gene MSH5-SAPCD1 readthrough (NMD candidate) Neighboring gene mutS homolog 5 Neighboring gene RNA, U6 small nuclear 850, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31731027-31731582 Neighboring gene SAPCD1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory regions 3149 and 4553 Neighboring gene von Willebrand factor A domain containing 7 Neighboring gene valyl-tRNA synthetase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31759127-31759287 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:31759783-31760982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:31763127-31763981

    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 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. Identification of multiple HTF-island associated genes in the human major histocompatibility complex class III region. Sargent CA, et al. EMBO J, 1989 Aug. PMID 2477242, Free PMC Article
    2. Localization of eight additional genes in the human major histocompatibility complex, including the gene encoding the casein kinase II beta subunit (CSNK2B). Albertella MR, et al. Genomics, 1996 Sep 1. PMID 8812450
    3. Biochemical and computational analysis of LNX1 interacting proteins. Wolting CD, et al. PLoS One, 2011. PMID 22087225, Free PMC Article
    4. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. Xie T, et al. Genome Res, 2003 Dec. PMID 14656967, Free PMC Article
    5. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough MSH5-SAPCD1

    Readthrough gene: MSH5-SAPCD1, Included gene: MSH5

    Homology

    Clone Names

    • DKFZp434C1615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    suppressor APC domain-containing protein 1
    Names
    protein G7d

    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_001039651.2 → NP_001034740.1  suppressor APC domain-containing protein 1

      See identical proteins and their annotated locations for NP_001034740.1

      Status: VALIDATED

      Source sequence(s)
      AL662899
      Consensus CDS
      CCDS34411.1
      UniProtKB/TrEMBL
      A0A1U9X8H2, A0A1U9X8H9, A0A1U9X8I1, A0A1U9X8I8
      Related
      ENSP00000411948.2, ENST00000415669.4
      Conserved Domains (1) summary
      pfam11414
      Location:35 → 114
      Suppressor_APC; Adenomatous polyposis coli tumor suppressor protein

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31762656..31764850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      3095268..3097462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3239913..3242108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      3010430..3012624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3104545..3106739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      3061948..3064142
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31615703..31617897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SSQ6.2 GenPept UniProtKB/Swiss-Prot:Q5SSQ6

    Gene LinkOut

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

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