This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016] See more...

Aliases for SHISA5 Gene

Aliases for SHISA5 Gene

  • Shisa Family Member 5 2 3 5
  • SCOTIN 2 3 4
  • Putative NF-Kappa-B-Activating Protein 120 3 4
  • Protein Shisa-5 3 4
  • Shisa Homolog 5 (Xenopus Laevis) 2
  • Shisa Homolog 5 3
  • HShisa5 2
  • SHISA5 5
  • Scotin 4

External Ids for SHISA5 Gene

Previous GeneCards Identifiers for SHISA5 Gene

  • GC03M048485

Summaries for SHISA5 Gene

Entrez Gene Summary for SHISA5 Gene

  • This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]

GeneCards Summary for SHISA5 Gene

SHISA5 (Shisa Family Member 5) is a Protein Coding gene. Diseases associated with SHISA5 include Microcephaly 19, Primary, Autosomal Recessive and Microcephaly 15, Primary, Autosomal Recessive. Among its related pathways are DNA Damage Response. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity and WW domain binding. An important paralog of this gene is UHRF1.

UniProtKB/Swiss-Prot Summary for SHISA5 Gene

  • Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis.

Additional gene information for SHISA5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHISA5 Gene

Genomics for SHISA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SHISA5 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 SHISA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHISA5

Top Transcription factor binding sites by QIAGEN in the SHISA5 gene promoter:
  • AP-4
  • COMP1
  • COUP
  • COUP-TF
  • COUP-TF1
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • POU2F1
  • STAT3

Genomic Locations for SHISA5 Gene

Genomic Locations for SHISA5 Gene
chr3:48,467,798-48,504,826
(GRCh38/hg38)
Size:
37,029 bases
Orientation:
Minus strand
chr3:48,509,197-48,542,259
(GRCh37/hg19)
Size:
33,063 bases
Orientation:
Minus strand

Genomic View for SHISA5 Gene

Genes around SHISA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHISA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHISA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHISA5 Gene

Proteins for SHISA5 Gene

  • Protein details for SHISA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N114-SHSA5_HUMAN
    Recommended name:
    Protein shisa-5
    Protein Accession:
    Q8N114
    Secondary Accessions:
    • B3KW99
    • F8W9N8
    • Q69YY9
    • Q7Z433
    • Q8NHL9
    • Q96MW8
    • Q9BV58

    Protein attributes for SHISA5 Gene

    Size:
    240 amino acids
    Molecular mass:
    25582 Da
    Quaternary structure:
    • Interacts with PDCD6; PDCD6 can stabilze SHISA5.

    Alternative splice isoforms for SHISA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHISA5 Gene

Post-translational modifications for SHISA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHISA5 Gene

Domains & Families for SHISA5 Gene

Gene Families for SHISA5 Gene

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

Protein Domains for SHISA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHISA5 Gene

GenScript: Design optimal peptide antigens:
  • Scotin (SHSA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N114

UniProtKB/Swiss-Prot:

SHSA5_HUMAN :
  • The proline-rich region is required for endoplasmic reticulum localization.
  • Belongs to the shisa family.
Domain:
  • The proline-rich region is required for endoplasmic reticulum localization.
Family:
  • Belongs to the shisa family.
genes like me logo Genes that share domains with SHISA5: view

Function for SHISA5 Gene

Molecular function for SHISA5 Gene

UniProtKB/Swiss-Prot Function:
Can induce apoptosis in a caspase-dependent manner and plays a role in p53/TP53-dependent apoptosis.
UniProtKB/Swiss-Prot Induction:
Induced in a p53/TP53-dependent manner in response to cellular stress.

Phenotypes From GWAS Catalog for SHISA5 Gene

Gene Ontology (GO) - Molecular Function for SHISA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15064722
genes like me logo Genes that share ontologies with SHISA5: view
genes like me logo Genes that share phenotypes with SHISA5: view

Animal Models for SHISA5 Gene

MGI Knock Outs for SHISA5:

Animal Model Products

CRISPR Products

miRNA for SHISA5 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHISA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SHISA5 Gene

Localization for SHISA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHISA5 Gene

Endoplasmic reticulum membrane. Single-pass type I membrane protein. Nucleus membrane.

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 SHISA5 gene
Compartment Confidence
endoplasmic reticulum 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SHISA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with SHISA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SHISA5 Gene

Pathways & Interactions for SHISA5 Gene

PathCards logo

SuperPathways for SHISA5 Gene

SuperPathway Contained pathways
1 DNA Damage Response
genes like me logo Genes that share pathways with SHISA5: view

Pathways by source for SHISA5 Gene

1 KEGG pathway for SHISA5 Gene

Gene Ontology (GO) - Biological Process for SHISA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0042771 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling HMP 12761501
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with SHISA5: view

No data available for SIGNOR curated interactions for SHISA5 Gene

Drugs & Compounds for SHISA5 Gene

No Compound Related Data Available

Transcripts for SHISA5 Gene

mRNA/cDNA for SHISA5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SHISA5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHISA5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^
SP1: - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - - -
SP6:
SP7: - - - - - - - - - - - - - - - - - -
SP8:
SP9:
SP10:
SP11: - - - - - - - - - - - - - - - - - -
SP12: -
SP13:
SP14: - - - - - - - -
SP15: - - - - - - - -
SP16: - - - - -
SP17: - - - - - - -
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d · 13e · 13f · 13g · 13h ^ 14a · 14b · 14c
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6: - - -
SP7:
SP8: - -
SP9: - -
SP10: -
SP11: -
SP12:
SP13: - - -
SP14: -
SP15:
SP16:
SP17:
SP18: -
SP19:
SP20: - - - - - - - - - - -
SP21: -
SP22: - - - - - - - - - -
SP23:

Relevant External Links for SHISA5 Gene

GeneLoc Exon Structure for
SHISA5

Expression for SHISA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHISA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHISA5 Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for SHISA5 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SHISA5 Gene



Protein tissue co-expression partners for SHISA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHISA5

SOURCE GeneReport for Unigene cluster for SHISA5 Gene:

Hs.414579

Evidence on tissue expression from TISSUES for SHISA5 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Kidney(4.7)
  • Blood(3.9)
  • Liver(3.9)
  • Intestine(3.8)
  • Skin(3.3)
  • Eye(2.8)
  • Stomach(2.8)
  • Spleen(2.3)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with SHISA5: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHISA5 Gene

Orthologs for SHISA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SHISA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SHISA5 30 31
  • 99.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Shisa5 30
  • 80.84 (n)
Mouse
(Mus musculus)
Mammalia Shisa5 30 17 31
  • 74.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SHISA5 30 31
  • 73.83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SHISA5 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SHISA5 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SHISA5 31
  • 69 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SHISA5 31
  • 50 (a)
OneToOne
Species where no ortholog for SHISA5 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)
  • 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)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for SHISA5 Gene

ENSEMBL:
Gene Tree for SHISA5 (if available)
TreeFam:
Gene Tree for SHISA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHISA5: view image

Paralogs for SHISA5 Gene

Paralogs for SHISA5 Gene

Pseudogenes.org Pseudogenes for SHISA5 Gene

genes like me logo Genes that share paralogs with SHISA5: view

Variants for SHISA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHISA5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs35750010 - p.Gly216Arg

Additional dbSNP identifiers (rs#s) for SHISA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SHISA5 Gene

Variant ID Type Subtype PubMed ID
dgv8315n54 CNV loss 21841781
esv1621474 CNV insertion 17803354
esv2635148 CNV insertion 19546169
esv992291 CNV insertion 20482838
esv996619 CNV insertion 20482838
nsv3809 CNV insertion 18451855
nsv508917 CNV insertion 20534489
nsv523981 CNV loss 19592680
nsv590242 CNV loss 21841781
nsv834684 CNV gain 17160897
nsv955596 CNV deletion 24416366

Variation tolerance for SHISA5 Gene

Residual Variation Intolerance Score: 81.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHISA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHISA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHISA5 Gene

Disorders for SHISA5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SHISA5 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SHISA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SHISA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHISA5 Gene

Publications for SHISA5 Gene

  1. Scotin, a novel p53-inducible proapoptotic protein located in the ER and the nuclear membrane. (PMID: 12135983) Bourdon JC … Lane DP (The Journal of cell biology 2002) 2 3 4
  2. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41
  3. The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane. (PMID: 17889823) Draeby I … Berchtold MW (Archives of biochemistry and biophysics 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PMID: 12761501) Matsuda A … Sugano S (Oncogene 2003) 3 4

Products for SHISA5 Gene

Sources for SHISA5 Gene