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    SAMD1 sterile alpha motif domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 90378, updated on 3-Dec-2024

    Summary

    Official Symbol
    SAMD1provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:17958
    See related
    Ensembl:ENSG00000141858 MIM:620206; AllianceGenome:HGNC:17958
    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
    Summary
    Enables chromatin binding activity. Involved in protein homooligomerization and regulation of DNA methylation-dependent heterochromatin formation. Is active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Ubiquitous expression in colon (RPKM 8.2), brain (RPKM 8.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SAMD1 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (14087851..14090751, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14214143..14217618, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14198663..14201563, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10227 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14184754-14185274 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:14185989-14186224 Neighboring gene microRNA 1199 Neighboring gene MISP family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14154 Neighboring gene chromosome 19 open reading frame 67 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14199415-14199924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10228 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10232 Neighboring gene MPRA-validated peak3379 silencer Neighboring gene protein kinase cAMP-activated catalytic subunit alpha Neighboring gene Sharpr-MPRA regulatory region 14201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14223743-14224430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10233 Neighboring gene small integral membrane protein 46 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10234 Neighboring gene uncharacterized LOC124904642 Neighboring gene anti-silencing function 1B histone chaperone

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables low-density lipoprotein particle binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in foam cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipoprotein lipid oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription initiation-coupled chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sterile alpha motif domain-containing protein 1
    Names
    SAM domain containing 1
    atherin

    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_138352.3NP_612361.1  sterile alpha motif domain-containing protein 1

      See identical proteins and their annotated locations for NP_612361.1

      Status: VALIDATED

      Source sequence(s)
      AC022098, AY453840, BC065477
      UniProtKB/Swiss-Prot
      Q6P0R3, Q6PIS7, Q6SPF0, Q96IM4
      UniProtKB/TrEMBL
      E9PIW9
      Related
      ENSP00000431971.2, ENST00000533683.7
      Conserved Domains (2) summary
      cd09583
      Location:459527
      SAM_Atherin-like; SAM domain of Atherin/Atherin-like subfamily
      smart00454
      Location:459525
      SAM; Sterile alpha motif

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      14087851..14090751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      299692..303167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332733.1XP_054188708.1  sterile alpha motif domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q6P0R3, Q6PIS7, Q6SPF0, Q96IM4
      UniProtKB/TrEMBL
      E9PIW9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14214143..14217618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322551.1XP_054178526.1  sterile alpha motif domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q6P0R3, Q6PIS7, Q6SPF0, Q96IM4
      UniProtKB/TrEMBL
      E9PIW9