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    SHISA5 shisa family member 5 [ Homo sapiens (human) ]

    Gene ID: 51246, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SHISA5provided by HGNC
    Official Full Name
    shisa family member 5provided by HGNC
    Primary source
    HGNC:HGNC:30376
    See related
    Ensembl:ENSG00000164054 MIM:607290; AllianceGenome:HGNC:30376
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCOTIN
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 49.3), spleen (RPKM 32.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SHISA5 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48467876..48504810, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48495881..48533775, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48509275..48542243, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14330 Neighboring gene coiled-coil domain containing 51 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14331 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48507557-48508438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48508439-48509318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48509460-48510226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48513959-48514818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19833 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48515680-48516539 Neighboring gene three prime repair exonuclease 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48542139-48542692 Neighboring gene MPRA-validated peak4641 silencer Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48587865-48588528 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:48588529-48589190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48589191-48589854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48589855-48590516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19836 Neighboring gene microRNA 6823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48596699-48597640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19837 Neighboring gene urocortin 2

    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. Interferon-inducible protein SCOTIN interferes with HCV replication through the autolysosomal degradation of NS5A. Kim N, et al. Nat Commun, 2016 Feb 12. PMID 26868272, Free PMC Article
    2. The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane. Draeby I, et al. Arch Biochem Biophys, 2007 Nov 1. PMID 17889823, Free PMC Article
    3. Scotin, a novel p53-inducible proapoptotic protein located in the ER and the nuclear membrane. Bourdon JC, et al. J Cell Biol, 2002 Jul 22. PMID 12135983, Free PMC Article
    4. WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins. Ludes-Meyers JH, et al. Oncogene, 2004 Jun 24. PMID 15064722, Free PMC Article
    5. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. So HC, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Jan 5. PMID 19367581

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IFN-beta-induced SCOTIN recruits the HCV NS5A protein to autophagosomes for degradation, thereby restricting HCV replication.
      Title: Interferon-inducible protein SCOTIN interferes with HCV replication through the autolysosomal degradation of NS5A.
    2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population.
    3. ALG-2 binding to Scotin is strictly calcium dependent, indicating a role of this interaction in calcium signaling pathways
      Title: The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane.
    4. Scotin plays a role in p53-dependent apoptosis
      Title: Scotin, a novel p53-inducible proapoptotic protein located in the ER and the nuclear membrane.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables WW domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein shisa-5
    Names
    putative NF-kappa-B-activating protein 120
    shisa homolog 5

    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.

    Genomic

    1. NG_033100.2 RefSeqGene

      Range
      5636..41934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001272065.3 → NP_001258994.1  protein shisa-5 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AC134772
      Consensus CDS
      CCDS63623.1
      UniProtKB/Swiss-Prot
      Q8N114
      Related
      ENSP00000395373.2, ENST00000443308.6
      Conserved Domains (1) summary
      pfam13908
      Location:28 → 182
      Shisa; Wnt and FGF inhibitory regulator

    2. NM_001272066.2 → NP_001258995.1  protein shisa-5 isoform c

      See identical proteins and their annotated locations for NP_001258995.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon and initiates translation at a downstream AUG, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AF520698, AK056328, BX344125, DA025113, DA045437
      Consensus CDS
      CCDS63622.1
      Related
      ENSP00000407957.1, ENST00000444115.5
      Conserved Domains (1) summary
      pfam13908
      Location:3 → 158
      Shisa; Wnt and FGF inhibitory regulator

    3. NM_001272067.2 → NP_001258996.1  protein shisa-5 isoform c

      See identical proteins and their annotated locations for NP_001258996.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon and initiates translation at a downstream AUG, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AK056328, BM929955, BX336842, DA020280, DA657994
      Consensus CDS
      CCDS63622.1
      Related
      ENSP00000408223.1, ENST00000442747.5
      Conserved Domains (1) summary
      pfam13908
      Location:3 → 158
      Shisa; Wnt and FGF inhibitory regulator

    4. NM_001272068.2 → NP_001258997.1  protein shisa-5 isoform c

      See identical proteins and their annotated locations for NP_001258997.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses two alternate exons in the 5' UTR and initiates translation at a downstream AUG, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 3, 4 and 5 encode the same protein.
      Source sequence(s)
      AC134772, AK124652, BM929955
      Consensus CDS
      CCDS63622.1
      Related
      ENSP00000484992.1, ENST00000619810.4
      Conserved Domains (1) summary
      pfam13908
      Location:3 → 158
      Shisa; Wnt and FGF inhibitory regulator

    5. NM_001272082.4 → NP_001259011.1  protein shisa-5 isoform d

      See identical proteins and their annotated locations for NP_001259011.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AL832568, BC001463, DA046900
      Consensus CDS
      CCDS63621.1
      UniProtKB/TrEMBL
      B7Z6Z2
      Related
      ENSP00000390388.1, ENST00000426002.5
      Conserved Domains (1) summary
      pfam13908
      Location:2 → 86
      Shisa; Wnt and FGF inhibitory regulator

    6. NM_001272083.4 → NP_001259012.1  protein shisa-5 isoform e

      See identical proteins and their annotated locations for NP_001259012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate 5' terminal exon, initiates translation at an alternate start codon, and differs at the 3' end compared to variant 1. The encoded isoform (e) has distinct N- and C- termini and is shorter than isoform a.
      Source sequence(s)
      AL117413, DA046900
      UniProtKB/Swiss-Prot
      Q8N114
      Related
      ENST00000494854.5
      Conserved Domains (1) summary
      pfam13908
      Location:2 → 86
      Shisa; Wnt and FGF inhibitory regulator

    7. NM_016479.6 → NP_057563.3  protein shisa-5 isoform a precursor

      See identical proteins and their annotated locations for NP_057563.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC134772
      Consensus CDS
      CCDS2770.1
      UniProtKB/Swiss-Prot
      B3KW99, F8W9N8, Q69YY9, Q7Z433, Q8N114, Q8NHL9, Q96MW8, Q9BV58
      Related
      ENSP00000296444.2, ENST00000296444.7
      Conserved Domains (1) summary
      pfam13908
      Location:28 → 189
      Shisa; Wnt and FGF inhibitory regulator

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      48467876..48504810 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      48495881..48533775 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346752.1 → XP_054202727.1  protein shisa-5 isoform X1

    2. XM_054346751.1 → XP_054202726.1  protein shisa-5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N114.1 GenPept UniProtKB/Swiss-Prot:Q8N114

    Gene LinkOut

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

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