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

Gene ID: 51246, updated on 7-Jun-2020

Summary

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
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

Genomic context

See SHISA5 in Genome Data Viewer
Location:
3p21.31
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48467798..48504826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48509197..48542259, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 51 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene three prime repair exonuclease 1 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene microRNA 6823 Neighboring gene urocortin 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_033100.1 RefSeqGene

    Range
    5001..38063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272065.1NP_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)
    AF520698, BI552637, BX379507, DA009534
    Consensus CDS
    CCDS63623.1
    UniProtKB/Swiss-Prot
    Q8N114
    Related
    ENSP00000395373.2, ENST00000443308.6
    Conserved Domains (1) summary
    pfam13908
    Location:28182
    Shisa; Wnt and FGF inhibitory regulator
  2. NM_001272066.1NP_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
    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Related
    ENSP00000407957.1, ENST00000444115.5
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
  3. NM_001272067.1NP_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)
    AF520698, AK056328, BM929955, BX336842, DA020280, DA657994
    Consensus CDS
    CCDS63622.1
    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Related
    ENSP00000408223.1, ENST00000442747.5
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
  4. NM_001272068.1NP_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)
    AF520698, AK124652, BM929955
    Consensus CDS
    CCDS63622.1
    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Related
    ENSP00000484992.1, ENST00000619810.4
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
  5. NM_001272082.2NP_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)
    AF520698, AI718508, AL832568, BC001463, DA046900
    Consensus CDS
    CCDS63621.1
    UniProtKB/Swiss-Prot
    Q8N114
    Related
    ENSP00000390388.1, ENST00000426002.5
    Conserved Domains (1) summary
    pfam13908
    Location:286
    Shisa; Wnt and FGF inhibitory regulator
  6. NM_001272083.2NP_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)
    AF520698, AL117413, DA046900
    UniProtKB/Swiss-Prot
    Q8N114
    Related
    ENST00000494854.5
    Conserved Domains (1) summary
    pfam13908
    Location:286
    Shisa; Wnt and FGF inhibitory regulator
  7. NM_016479.4NP_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)
    AF520698, BI552637
    Consensus CDS
    CCDS2770.1
    UniProtKB/Swiss-Prot
    Q8N114
    Related
    ENSP00000296444.2, ENST00000296444.6
    Conserved Domains (1) summary
    pfam13908
    Location:28189
    Shisa; Wnt and FGF inhibitory regulator

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48467798..48504826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265205.1XP_005265262.1  protein shisa-5 isoform X1

    See identical proteins and their annotated locations for XP_005265262.1

    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
  2. XM_011533796.1XP_011532098.1  protein shisa-5 isoform X1

    See identical proteins and their annotated locations for XP_011532098.1

    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
  3. XM_006713188.3XP_006713251.1  protein shisa-5 isoform X1

    See identical proteins and their annotated locations for XP_006713251.1

    UniProtKB/Swiss-Prot
    Q8N114
    UniProtKB/TrEMBL
    A0A024R2S8
    Conserved Domains (1) summary
    pfam13908
    Location:3158
    Shisa; Wnt and FGF inhibitory regulator
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