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

Gene ID: 51246, updated on 5-Mar-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
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Genomic context

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Location:
3p21.31
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48467876..48504810, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48495881..48533775, complement)
105.20220307 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 (17) 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)

Genotypes

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 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_2023_10

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

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