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

Gene ID: 148398, updated on 17-Jun-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 histone binding activity; protein domain specific binding activity; and protein self-association. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in prostate (RPKM 7.4), endometrium (RPKM 5.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (923923..944574)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (353566..373316)
105.20220307 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
  • 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_2023_10

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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