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SHISA6 shisa family member 6 [ Homo sapiens (human) ]

Gene ID: 388336, updated on 21-Apr-2019

Summary

Official Symbol
SHISA6provided by HGNC
Official Full Name
shisa family member 6provided by HGNC
Primary source
HGNC:HGNC:34491
See related
Ensembl:ENSG00000188803 MIM:617327
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in brain (RPKM 3.7), endometrium (RPKM 2.0) and 9 other tissues See more
Orthologs

Genomic context

See SHISA6 in Genome Data Viewer
Location:
17p12
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (11241423..11564063)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (11144740..11467380)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371536 Neighboring gene RNA, 7SL, cytoplasmic 601, pseudogene Neighboring gene dynein axonemal heavy chain 9 Neighboring gene uncharacterized LOC101928350 Neighboring gene ribosomal protein L21 pseudogene 122 Neighboring gene zinc finger protein 18

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ37030, FLJ37733, FLJ45455

Gene Ontology Provided by GOA

Function Evidence Code Pubs
PDZ domain binding IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
excitatory chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic neurotransmitter receptor diffusion trapping IEA
Inferred from Electronic Annotation
more info
 
regulation of AMPA glutamate receptor clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of postsynaptic neurotransmitter receptor activity IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
asymmetric, glutamatergic, excitatory synapse ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
integral component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein shisa-6; protein shisa-6 homolog
Names
shisa homolog 6

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.

mRNA and Protein(s)

  1. NM_001173461.1NP_001166932.1  protein shisa-6 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001166932.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC005725, AC007510, AK127379
    Consensus CDS
    CCDS54090.1
    UniProtKB/Swiss-Prot
    Q6ZSJ9
    Related
    ENSP00000387157.3, ENST00000409168.7
    Conserved Domains (1) summary
    pfam13908
    Location:91258
    Shisa; Wnt and FGF inhibitory regulator
  2. NM_001173462.1NP_001166933.1  protein shisa-6 isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC005725, AC007510
    Consensus CDS
    CCDS54089.1
    UniProtKB/Swiss-Prot
    Q6ZSJ9
    Related
    ENSP00000388659.3, ENST00000432116.7
    Conserved Domains (1) summary
    pfam13908
    Location:91258
    Shisa; Wnt and FGF inhibitory regulator
  3. NM_207386.3NP_997269.2  protein shisa-6 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC005725, AC007510, AK128003, DA362563
    Consensus CDS
    CCDS45615.1
    UniProtKB/Swiss-Prot
    Q6ZSJ9
    Related
    ENSP00000390084.3, ENST00000441885.7
    Conserved Domains (1) summary
    pfam13908
    Location:91258
    Shisa; Wnt and FGF inhibitory regulator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    11241423..11564063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024618.1XP_016880107.1  protein shisa-6 homolog isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175903.2: Suppressed sequence

    Description
    NM_175903.2: This RefSeq was permanently suppressed because it is primarily UTR sequence.
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