U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    SHROOM3 shroom family member 3 [ Homo sapiens (human) ]

    Gene ID: 57619, updated on 27-Nov-2024

    Summary

    Official Symbol
    SHROOM3provided by HGNC
    Official Full Name
    shroom family member 3provided by HGNC
    Primary source
    HGNC:HGNC:30422
    See related
    Ensembl:ENSG00000138771 MIM:604570; AllianceGenome:HGNC:30422
    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
    SHRM; APXL3; ShrmL; MSTP013
    Summary
    This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
    Expression
    Broad expression in colon (RPKM 6.8), gall bladder (RPKM 5.4) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SHROOM3 in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76435229..76783253)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79775956..80123954)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77356382..77704406)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 158 Neighboring gene small nucleolar RNA SNORD50 Neighboring gene ribosomal protein L36a pseudogene 18 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:77379997-77381196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:77398744-77399474 Neighboring gene RNA, U6 small nuclear 145, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:77479863-77480494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21629 Neighboring gene microRNA 548ah Neighboring gene microRNA 4450 Neighboring gene uncharacterized LOC105377290 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:77585909-77587108 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr4:77610214-77610736 Neighboring gene SUMO2 pseudogene 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:77618582-77619300 Neighboring gene SHROOM3 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 6551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15489 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:77702656-77703855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15492 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:77707749-77708250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:77708251-77708750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:77722401-77723191 Neighboring gene uncharacterized LOC124900719 Neighboring gene putative uncharacterized protein encoded by LINC00596

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants at 5q22 associate with pediatric eosinophilic esophagitis.
    EBI GWAS Catalog
    Genetic loci influencing kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    Multiple loci associated with indices of renal function and chronic kidney disease.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog
    Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1481, AC107072.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apical protein localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular pigment accumulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pattern specification process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in apical junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical junction complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical 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
     
    located_in cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein Shroom3
    Names
    F-actin-binding protein
    shroom-related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_028077.1 RefSeqGene

      Range
      5130..353154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020859.4NP_065910.3  protein Shroom3

      See identical proteins and their annotated locations for NP_065910.3

      Status: REVIEWED

      Source sequence(s)
      AB055660, AC107072, AK127929, AK128677, AW025141
      Consensus CDS
      CCDS3579.2
      UniProtKB/Swiss-Prot
      Q5QTQ3, Q6ZRW3, Q8TF72, Q96IR9, Q9P247
      UniProtKB/TrEMBL
      A0A2R8Y5P9
      Related
      ENSP00000296043.6, ENST00000296043.7
      Conserved Domains (3) summary
      cd00992
      Location:33107
      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:16711955
      ASD2; Apx/Shroom domain ASD2
      pfam08688
      Location:8841062
      ASD1; Apx/Shroom domain ASD1

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      76435229..76783253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      79775956..80123954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)