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    SAMD7 sterile alpha motif domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 344658, updated on 30-Nov-2024

    Summary

    Official Symbol
    SAMD7provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:25394
    See related
    Ensembl:ENSG00000187033 MIM:620493; AllianceGenome:HGNC:25394
    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
    MDCD
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific; chromatin binding activity; and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription; negative regulation of gene expression, epigenetic; and retinal rod cell development. Predicted to be located in cytoplasm. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. Implicated in macular degeneration. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SAMD7 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169911572..169939175)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172695837..172723459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169629360..169656963)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169564950-169565107 Neighboring gene leucine rich repeat containing 31 Neighboring gene keratin 18 pseudogene 43 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169653188-169653290 Neighboring gene family with sequence similarity 20 member B pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20790 Neighboring gene FHL1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20791 Neighboring gene NANOG hESC enhancer GRCh37_chr3:169686270-169686802 Neighboring gene SEC62 homolog, preprotein translocation factor

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp686E1583

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of gene expression, epigenetic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal rod cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of PRC1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    sterile alpha motif domain-containing protein 7
    Names
    SAM domain-containing protein 7

    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_001304366.2NP_001291295.1  sterile alpha motif domain-containing protein 7

      See identical proteins and their annotated locations for NP_001291295.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC008040, AL711948, BX648534, BX648991
      Consensus CDS
      CCDS3209.1
      UniProtKB/Swiss-Prot
      Q7Z3H4
      Related
      ENSP00000334668.3, ENST00000335556.7
      Conserved Domains (1) summary
      cd09579
      Location:324391
      SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group
    2. NM_182610.4NP_872416.1  sterile alpha motif domain-containing protein 7

      See identical proteins and their annotated locations for NP_872416.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC008040, AL711948, BX537903, BX648991
      Consensus CDS
      CCDS3209.1
      UniProtKB/Swiss-Prot
      Q7Z3H4
      Related
      ENSP00000391299.2, ENST00000428432.6
      Conserved Domains (1) summary
      cd09579
      Location:324391
      SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group

    RNA

    1. NR_130713.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008040, AL711948, BC143909, BX648991

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169911572..169939175
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172695837..172723459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)