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SHROOM4 shroom family member 4 [ Homo sapiens (human) ]

Gene ID: 57477, updated on 4-Jul-2021

Summary

Official Symbol
SHROOM4provided by HGNC
Official Full Name
shroom family member 4provided by HGNC
Primary source
HGNC:HGNC:29215
See related
Ensembl:ENSG00000158352 MIM:300579
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
SHAP; shrm4
Summary
This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]
Expression
Broad expression in lung (RPKM 5.3), fat (RPKM 2.8) and 19 other tissues See more
Orthologs
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Genomic context

See SHROOM4 in Genome Data Viewer
Location:
Xp11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (50575534..50814194, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (50334642..50557194, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cyclin B3 Neighboring gene diacylglycerol kinase kappa Neighboring gene RNA, U6 small nuclear 935, pseudogene Neighboring gene H3 histone pseudogene 44 Neighboring gene bone morphogenetic protein 15

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

Associated conditions

Description Tests
Stocco dos Santos syndrome
MedGen: C1845530 OMIM: 300434 GeneReviews: Not available
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Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-10-10)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-10-10)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1202

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables myosin II binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization NAS
Non-traceable Author Statement
more info
PubMed 
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in actin filament organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in brain development IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cognition IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in actin filament IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in apical junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in basal plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with cortical actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
colocalizes_with stress fiber ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein Shroom4
Names
second homolog of apical protein

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_011882.1 RefSeqGene

    Range
    5001..227403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020717.5NP_065768.2  protein Shroom4

    See identical proteins and their annotated locations for NP_065768.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
    Source sequence(s)
    AC233286, AL121865, AL359272
    Consensus CDS
    CCDS35277.1
    UniProtKB/Swiss-Prot
    Q9ULL8
    Related
    ENSP00000365188.2, ENST00000376020.8
    Conserved Domains (2) summary
    cd00992
    Location:1389
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    pfam08687
    Location:12471485
    ASD2; Apx/Shroom domain ASD2

RNA

  1. NR_027121.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at its 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC233286, AL121865, AL359272
  2. NR_172068.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC233286, AL121865, AL359272
  3. NR_172069.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC233286, AL121865
  4. NR_172070.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC233286, AL121865

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    50575534..50814194 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029683.1XP_016885172.1  protein Shroom4 isoform X2

  2. XM_017029682.2XP_016885171.1  protein Shroom4 isoform X1

  3. XM_017029686.1XP_016885175.1  protein Shroom4 isoform X5

  4. XM_017029684.1XP_016885173.1  protein Shroom4 isoform X3

    Related
    ENSP00000421450.1, ENST00000460112.3
  5. XM_017029685.2XP_016885174.1  protein Shroom4 isoform X4

  6. XM_017029687.2XP_016885176.1  protein Shroom4 isoform X6

RNA

  1. XR_001755718.2 RNA Sequence

  2. XR_001755717.2 RNA Sequence

  3. XR_001755716.2 RNA Sequence

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