Aliases for SAC3D1 Gene

Aliases for SAC3D1 Gene

  • SAC3 Domain Containing 1 2 3 5
  • SHD1 2 3 4
  • SAC3 Homology Domain-Containing Protein 1 3 4
  • SAC3 Domain-Containing Protein 1 3 4
  • HSU79266 2 3
  • Sac3 Homology Domain 1 3
  • SAC3D1 5

External Ids for SAC3D1 Gene

Previous GeneCards Identifiers for SAC3D1 Gene

  • GC11P064566
  • GC11P064808
  • GC11P061135

Summaries for SAC3D1 Gene

GeneCards Summary for SAC3D1 Gene

SAC3D1 (SAC3 Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is MCM3AP.

UniProtKB/Swiss-Prot Summary for SAC3D1 Gene

Gene Wiki entry for SAC3D1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAC3D1 Gene

Genomics for SAC3D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAC3D1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAC3D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAC3D1

Top Transcription factor binding sites by QIAGEN in the SAC3D1 gene promoter:
  • Brachyury
  • Evi-1
  • Meis-1
  • Meis-1a
  • Meis-1b
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for SAC3D1 Gene

Latest Assembly
chr11:65,040,901-65,044,828
(GRCh38/hg38)
Size:
3,928 bases
Orientation:
Plus strand

Previous Assembly
chr11:64,808,405-64,812,300
(GRCh37/hg19 by Entrez Gene)
Size:
3,896 bases
Orientation:
Plus strand

chr11:64,808,373-64,812,300
(GRCh37/hg19 by Ensembl)
Size:
3,928 bases
Orientation:
Plus strand

Genomic View for SAC3D1 Gene

Genes around SAC3D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAC3D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAC3D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAC3D1 Gene

Proteins for SAC3D1 Gene

  • Protein details for SAC3D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NKF1-SAC31_HUMAN
    Recommended name:
    SAC3 domain-containing protein 1
    Protein Accession:
    A6NKF1
    Secondary Accessions:
    • A8MX08
    • Q99773

    Protein attributes for SAC3D1 Gene

    Size:
    404 amino acids
    Molecular mass:
    43553 Da
    Quaternary structure:
    • May be part of a SEM1-containing complex.
    SequenceCaution:
    • Sequence=AP003068; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SAC3D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SAC3D1 Gene

Post-translational modifications for SAC3D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SAC3D1 Gene

No data available for DME Specific Peptides for SAC3D1 Gene

Domains & Families for SAC3D1 Gene

Gene Families for SAC3D1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SAC3D1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SAC3D1 Gene

GenScript: Design optimal peptide antigens:
  • SAC3 homology domain-containing protein 1 (SAC31_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A6NKF1

UniProtKB/Swiss-Prot:

SAC31_HUMAN :
  • Belongs to the SAC3 family.
Family:
  • Belongs to the SAC3 family.
genes like me logo Genes that share domains with SAC3D1: view

Function for SAC3D1 Gene

Molecular function for SAC3D1 Gene

UniProtKB/Swiss-Prot Function:
Involved in centrosome duplication and mitotic progression.

Phenotypes From GWAS Catalog for SAC3D1 Gene

Gene Ontology (GO) - Molecular Function for SAC3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16239144
genes like me logo Genes that share ontologies with SAC3D1: view
genes like me logo Genes that share phenotypes with SAC3D1: view

Animal Models for SAC3D1 Gene

MGI Knock Outs for SAC3D1:

miRNA for SAC3D1 Gene

miRTarBase miRNAs that target SAC3D1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAC3D1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SAC3D1 Gene

Localization for SAC3D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAC3D1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Localizes on centrosomes in interphase cells and at spindles in mitosis. {ECO:0000250}.

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 SAC3D1 gene
Compartment Confidence
nucleus 4
cytoskeleton 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SAC3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA 21873635
GO:0005819 spindle IBA 21873635
genes like me logo Genes that share ontologies with SAC3D1: view

Pathways & Interactions for SAC3D1 Gene

PathCards logo

SuperPathways for SAC3D1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SAC3D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051225 spindle assembly IBA 21873635
GO:0051298 centrosome duplication IBA 21873635
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SAC3D1: view

No data available for Pathways by source and SIGNOR curated interactions for SAC3D1 Gene

Drugs & Compounds for SAC3D1 Gene

No Compound Related Data Available

Transcripts for SAC3D1 Gene

mRNA/cDNA for SAC3D1 Gene

5 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAC3D1

Alternative Splicing Database (ASD) splice patterns (SP) for SAC3D1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - - - - -
SP2: -
SP3: -
SP4: - -
SP5: -

Relevant External Links for SAC3D1 Gene

GeneLoc Exon Structure for
SAC3D1

Expression for SAC3D1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAC3D1 Gene

mRNA differential expression in normal tissues according to GTEx for SAC3D1 Gene

This gene is overexpressed in Testis (x6.6).

Protein differential expression in normal tissues from HIPED for SAC3D1 Gene

This gene is overexpressed in Breast (55.0) and Bone (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAC3D1 Gene



Protein tissue co-expression partners for SAC3D1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAC3D1

SOURCE GeneReport for Unigene cluster for SAC3D1 Gene:

Hs.23642

Evidence on tissue expression from TISSUES for SAC3D1 Gene

  • Nervous system(4.3)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with SAC3D1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SAC3D1 Gene

Orthologs for SAC3D1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SAC3D1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAC3D1 30 31
  • 98.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAC3D1 30 31
  • 84.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAC3D1 30 31
  • 83.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sac3d1 30 17 31
  • 78.59 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 10 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 5 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia SAC3D1 31
  • 48 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489268 30
  • 51.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii si:zfos-452g4.1 30
  • 51.21 (n)
SAC3D1 31
  • 33 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3437 31
  • 24 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea tag-115 31
  • 25 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAC3 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToOne
Species where no ortholog for SAC3D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)

Evolution for SAC3D1 Gene

ENSEMBL:
Gene Tree for SAC3D1 (if available)
TreeFam:
Gene Tree for SAC3D1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAC3D1: view image

Paralogs for SAC3D1 Gene

Paralogs for SAC3D1 Gene

genes like me logo Genes that share paralogs with SAC3D1: view

Variants for SAC3D1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for SAC3D1 Gene

SAC31_HUMAN-A6NKF1
A single nucleotide deletion in the N-terminal region of the protein leads to production of a shorter protein starting at Met-47 which matches the reference genome (GRCh38/hg38) but is likely to be the minor allele.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAC3D1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs10160811 - p.Thr8Pro
rs12271134 - p.Leu155Arg
rs3741390 - p.Leu186Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAC3D1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAC3D1 Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680

Variation tolerance for SAC3D1 Gene

Gene Damage Index Score: 10.20; 90.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAC3D1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAC3D1

SNP Genotyping and Copy Number Assays for research

Disorders for SAC3D1 Gene

Additional Disease Information for SAC3D1

No disorders were found for SAC3D1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SAC3D1 Gene

Publications for SAC3D1 Gene

  1. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 4
  2. Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II. (PMID: 16239144) Baillat D … Shiekhattar R (Cell 2005) 3 4
  3. The Sac3 homologue shd1 is involved in mitotic progression in mammalian cells. (PMID: 15322101) Khuda SE … Sakaguchi N (The Journal of biological chemistry 2004) 3 23
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3
  5. SAC3D1: a novel prognostic marker in hepatocellular carcinoma. (PMID: 30353105) Han ME … Oh SO (Scientific reports 2018) 3

Products for SAC3D1 Gene

Sources for SAC3D1 Gene