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Aliases for SAMD11 Gene

Aliases for SAMD11 Gene

  • Sterile Alpha Motif Domain Containing 11 2 3 5
  • SAM Domain-Containing Protein 11 3 4
  • Sterile Alpha Motif Domain-Containing Protein 11 3
  • MRS 3

External Ids for SAMD11 Gene

Previous GeneCards Identifiers for SAMD11 Gene

  • GC01P000914
  • GC01P000850
  • GC01P000132
  • GC01P000860
  • GC01P000924
  • GC01P000930

Summaries for SAMD11 Gene

GeneCards Summary for SAMD11 Gene

SAMD11 (Sterile Alpha Motif Domain Containing 11) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and PH domain binding. An important paralog of this gene is PHC3.

UniProtKB/Swiss-Prot for SAMD11 Gene

  • May play a role in photoreceptor development.

Additional gene information for SAMD11 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAMD11 Gene

Genomics for SAMD11 Gene

GeneHancer (GH) Regulatory Elements for SAMD11 Gene

Promoters and enhancers for SAMD11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I000923 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 828 2 SIN3A ZNF2 GLIS2 ZNF213 KLF7 SP3 ZNF610 GMEB1 SMARCA4 ZSCAN16 SAMD11 ATAD3B LOC105378580 CICP3 INTS11 LINC01786 LINC00115 ENSG00000240731 ENSG00000272455 SLC35E2
GH01I000922 Enhancer 0.8 FANTOM5 dbSUPER 555.7 -0.9 -856 0.4 CTCF SUZ12 ZNF10 ZMYM3 HDAC2 ZNF341 KDM1A ZBTB33 ZNF18 EZH2 SAMD11 LOC100130417
GH01I000904 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 6.9 -19.0 -19019 1.4 HDGF ARID4B SIN3A ZNF2 ZNF213 ZNF207 ZNF143 SP3 MXD4 REST LOC284600 ENSG00000272438 CDK11A ENSG00000230092 UBE2J2 ATAD3B WASH7P INTS11 ENSG00000237094 CDK11B
GH01I000939 Promoter/Enhancer 1.5 Ensembl ENCODE 5.2 +18.5 18527 6.3 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF766 ZNF213 SP3 LINC01786 NOC2L PLEKHN1 ENSG00000241180 SCNN1D ENSG00000215014 FAM87B PERM1 ANKRD65 CDK11A
GH01I000932 Enhancer 0.8 dbSUPER 6.3 +9.2 9173 1.9 NFIB ZNF335 GLIS2 SCRT2 ZNF398 ZEB2 ZNF592 ZNF217 ZFP69B NFIC GC01M000926 SAMD11 KLHL17 PERM1 ENSG00000230699
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SAMD11 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SAMD11 Gene

Genomic Locations for SAMD11 Gene
chr1:923,928-944,581
(GRCh38/hg38)
Size:
20,654 bases
Orientation:
Plus strand
chr1:860,260-879,961
(GRCh37/hg19)

Genomic View for SAMD11 Gene

Genes around SAMD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAMD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAMD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAMD11 Gene

Proteins for SAMD11 Gene

  • Protein details for SAMD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NU1-SAM11_HUMAN
    Recommended name:
    Sterile alpha motif domain-containing protein 11
    Protein Accession:
    Q96NU1
    Secondary Accessions:
    • A2AA76
    • I7FV78
    • I7FV81
    • I7G0Z6
    • Q5SV96
    • Q5SV99
    • Q5SVA0
    • Q8N195
    • Q8TB59

    Protein attributes for SAMD11 Gene

    Size:
    681 amino acids
    Molecular mass:
    72708 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=BAB70781.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI15563.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI15564.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SAMD11 Gene

neXtProt entry for SAMD11 Gene

Post-translational modifications for SAMD11 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SAMD11 Gene

Domains & Families for SAMD11 Gene

Gene Families for SAMD11 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SAMD11 Gene

Suggested Antigen Peptide Sequences for SAMD11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SAMD11: view

No data available for UniProtKB/Swiss-Prot for SAMD11 Gene

Function for SAMD11 Gene

Molecular function for SAMD11 Gene

UniProtKB/Swiss-Prot Function:
May play a role in photoreceptor development.

Phenotypes for SAMD11 Gene

genes like me logo Genes that share phenotypes with SAMD11: view

Animal Model Products

miRNA for SAMD11 Gene

miRTarBase miRNAs that target SAMD11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SAMD11 Gene

Localization for SAMD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAMD11 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAMD11 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SAMD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SAMD11: view

Pathways & Interactions for SAMD11 Gene

SuperPathways for SAMD11 Gene

No Data Available

Interacting Proteins for SAMD11 Gene

Gene Ontology (GO) - Biological Process for SAMD11 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SAMD11 Gene

Drugs & Compounds for SAMD11 Gene

No Compound Related Data Available

Transcripts for SAMD11 Gene

Unigene Clusters for SAMD11 Gene

Sterile alpha motif domain containing 11:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SAMD11 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c
SP1: -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for SAMD11 Gene

GeneLoc Exon Structure for
SAMD11
ECgene alternative splicing isoforms for
SAMD11

Expression for SAMD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SAMD11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SAMD11 Gene

This gene is overexpressed in Pituitary (x6.5).

Protein differential expression in normal tissues from HIPED for SAMD11 Gene

This gene is overexpressed in Lung (59.9) and Retina (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAMD11 Gene



Protein tissue co-expression partners for SAMD11 Gene

NURSA nuclear receptor signaling pathways regulating expression of SAMD11 Gene:

SAMD11

SOURCE GeneReport for Unigene cluster for SAMD11 Gene:

Hs.335293

Evidence on tissue expression from TISSUES for SAMD11 Gene

  • Eye(4.3)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SAMD11: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAMD11 Gene

Orthologs for SAMD11 Gene

This gene was present in the common ancestor of animals.

Orthologs for SAMD11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100608581 33
  • 98.78 (n)
SAMD11 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SAMD11 34 33
  • 86.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SAMD11 34 33
  • 85.79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102549710 33
  • 78.34 (n)
mouse
(Mus musculus)
Mammalia Samd11 16 34 33
  • 77.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SAMD11 34
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAMD11 34
  • 26 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAMD11 34 33
  • 68.15 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAMD11 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia samd11 33
  • 61.03 (n)
Str.15654 33
zebrafish
(Danio rerio)
Actinopterygii samd11 34 33
  • 61.87 (n)
OneToOne
Dr.11161 33
fruit fly
(Drosophila melanogaster)
Insecta Samuel 34
  • 11 (a)
OneToMany
Species where no ortholog for SAMD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SAMD11 Gene

ENSEMBL:
Gene Tree for SAMD11 (if available)
TreeFam:
Gene Tree for SAMD11 (if available)

Paralogs for SAMD11 Gene

Variants for SAMD11 Gene

Sequence variations from dbSNP and Humsavar for SAMD11 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000001574 -- 926,128(+) G/A intron_variant
rs1000217911 -- 940,253(+) CGCCGGCCGCCGG/CGCCGGCCGCCGGCCGCCGG intron_variant
rs1000271567 -- 940,342(+) T/TT intron_variant
rs1000276322 -- 933,315(+) G/T intron_variant
rs1000287307 -- 936,770(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SAMD11 Gene

Variant ID Type Subtype PubMed ID
dgv10n54 CNV gain+loss 21841781
dgv11n54 CNV loss 21841781
dgv12n54 CNV gain+loss 21841781
dgv13n54 CNV gain+loss 21841781
dgv14n54 CNV gain 21841781
dgv15n54 CNV loss 21841781
dgv16n54 CNV loss 21841781
dgv1n111 CNV duplication 26073780
dgv2n67 CNV gain 20364138
dgv3n111 CNV duplication 26073780
dgv5n100 CNV gain 25217958
dgv6n54 CNV loss 21841781
dgv7n54 CNV loss 21841781
dgv8n54 CNV loss 21841781
dgv9n54 CNV loss 21841781
esv1062785 CNV deletion 17803354
esv1732269 CNV deletion 17803354
esv2066434 CNV deletion 18987734
esv2663451 CNV deletion 23128226
esv27608 CNV gain+loss 19812545
esv2762302 CNV gain 21179565
esv2853903 CNV deletion 24192839
esv3550787 CNV deletion 23714750
esv3584987 CNV loss 21293372
esv989364 CNV loss 20482838
nsv1013524 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1074938 CNV deletion 25765185
nsv1074942 CNV deletion 25765185
nsv1142736 CNV deletion 24896259
nsv1160644 CNV deletion 26073780
nsv428334 CNV gain 18775914
nsv482937 CNV loss 15286789
nsv509035 CNV insertion 20534489
nsv511670 CNV loss 21212237
nsv517709 CNV gain+loss 19592680
nsv544895 CNV loss 21841781
nsv544897 CNV gain+loss 21841781
nsv544898 CNV gain 21841781
nsv544904 CNV gain 21841781
nsv544919 CNV loss 21841781
nsv544924 CNV gain+loss 21841781
nsv544928 CNV gain 21841781
nsv544930 CNV loss 21841781
nsv544932 CNV loss 21841781
nsv832980 CNV gain 17160897
nsv950451 CNV deletion 24416366
nsv955441 CNV deletion 24416366

Variation tolerance for SAMD11 Gene

Residual Variation Intolerance Score: 98.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAMD11 Gene

Human Gene Mutation Database (HGMD)
SAMD11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAMD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAMD11 Gene

Disorders for SAMD11 Gene

Additional Disease Information for SAMD11

No disorders were found for SAMD11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAMD11 Gene

Publications for SAMD11 Gene

  1. Identification and characterization of novel alternative splice variants of human SAMD11. (PMID: 23978614) Jin G … Shen H (Gene 2013) 3 4 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for SAMD11 Gene

Sources for SAMD11 Gene

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