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    SAMD11 sterile alpha motif domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 148398, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SAMD11provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:28706
    See related
    Ensembl:ENSG00000187634 MIM:616765; AllianceGenome:HGNC:28706
    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
    MRS
    Summary
    Predicted to enable several functions, including DNA-binding transcription repressor activity, RNA polymerase II-specific; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and retinal rod cell development. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be part of PRC1 complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in prostate (RPKM 7.4), endometrium (RPKM 5.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SAMD11 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (923923..944574)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (353566..373316)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (859303..879954)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 41 member C Neighboring gene tubulin beta 8 class VIII pseudogene 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:833348-833508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3 Neighboring gene uncharacterized LOC284600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:848070-848570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:848571-849071 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:855570-856506 Neighboring gene collagen alpha-1(III) chain-like Neighboring gene long intergenic non-protein coding RNA 2593 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:858348-858926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:860592-861138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:864095-864596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:865404-865904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:865905-866405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:873315-874026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4 Neighboring gene NOC2 like nucleolar associated transcriptional repressor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:893904-894761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11 Neighboring gene kelch like family member 17 Neighboring gene pleckstrin homology domain containing N1 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1

    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. CircSAMD11 facilitates progression of cervical cancer via regulating miR-503/SOX4 axis through Wnt/β-catenin pathway. Pan Q, et al. Clin Exp Pharmacol Physiol, 2022 Jan. PMID 34546569
    2. Identification and characterization of novel alternative splice variants of human SAMD11. Jin G, et al. Gene, 2013 Nov 10. PMID 23978614
    3. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Corton M, et al. Sci Rep, 2016 Oct 13. PMID 27734943, Free PMC Article
    4. Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. Chapman NH, et al. Hum Genet, 2015 Oct. PMID 26204995, Free PMC Article
    5. ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ. Rayner SL, et al. Hum Mol Genet, 2021 May 31. PMID 33729478

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircSAMD11 facilitates progression of cervical cancer via regulating miR-503/SOX4 axis through Wnt/beta-catenin pathway.
      Title: CircSAMD11 facilitates progression of cervical cancer via regulating miR-503/SOX4 axis through Wnt/β-catenin pathway.
    2. analysis of a homozygous nonsense mutation in SAMD11 in five individuals diagnosed with adult-onset retinitis pigmentosa; SAMD11 interacts with CRX and is expressed in retina
      Title: Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
    3. SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder.
      Title: Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.
    4. SAMD11 was found to be widely expressed in many cell lines and ocular tissues and its transcription was not regulated by CRX, OTX2 or NR2E3 proteins.
      Title: Identification and characterization of novel alternative splice variants of human SAMD11.
    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

    Homology

    Clone Names

    • MGC45873

    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 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
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sterile alpha motif domain-containing protein 11
    Names
    SAM domain-containing protein 11

    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_001385640.1 → NP_001372569.1  sterile alpha motif domain-containing protein 11 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS90833.1
      UniProtKB/TrEMBL
      A0A087WX24
      Related
      ENSP00000480678.2, ENST00000618323.5
      Conserved Domains (2) summary
      cd09579
      Location:704 → 771
      SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group
      pfam01342
      Location:113 → 185
      SAND; SAND domain

    2. NM_001385641.1 → NP_001372570.1  sterile alpha motif domain-containing protein 11 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS90834.1
      UniProtKB/TrEMBL
      A0A087WU74
      Related
      ENSP00000478421.2, ENST00000616016.5
      Conserved Domains (2) summary
      cd09579
      Location:703 → 770
      SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group
      pfam01342
      Location:113 → 185
      SAND; SAND domain

    3. NM_152486.4 → NP_689699.3  sterile alpha motif domain-containing protein 11 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS2.2
      UniProtKB/Swiss-Prot
      A2AA76, I7FV78, I7FV81, I7G0Z6, Q5SV96, Q5SV99, Q5SVA0, Q8N195, Q8TB59, Q96NU1
      UniProtKB/TrEMBL
      A0A087WYW1
      Related
      ENSP00000342313.3, ENST00000342066.8
      Conserved Domains (1) summary
      cd09579
      Location:540 → 607
      SAM_Samd7,11; SAM domain of Samd7,11 subfamily of Polycomb group

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      923923..944574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      353566..373316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NU1.3 GenPept UniProtKB/Swiss-Prot:Q96NU1

    Gene LinkOut

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

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