SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008] See more...

Aliases for SHROOM1 Gene

Aliases for SHROOM1 Gene

  • Shroom Family Member 1 2 3 5
  • Apical Protein 2 3 4
  • Protein Shroom1 3 4
  • APXL2 3 4
  • KIAA1960 4

External Ids for SHROOM1 Gene

Previous GeneCards Identifiers for SHROOM1 Gene

  • GC05M132186
  • GC05M132157
  • GC05M127350

Summaries for SHROOM1 Gene

Entrez Gene Summary for SHROOM1 Gene

  • SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SHROOM1 Gene

SHROOM1 (Shroom Family Member 1) is a Protein Coding gene. Diseases associated with SHROOM1 include Atrial Septal Defect 2 and Atrial Septal Defect 1. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is SHROOM3.

UniProtKB/Swiss-Prot Summary for SHROOM1 Gene

  • May be involved in the assembly of microtubule arrays during cell elongation.

Additional gene information for SHROOM1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SHROOM1 Gene

Genomics for SHROOM1 Gene

GeneHancer (GH) Regulatory Elements for SHROOM1 Gene

Promoters and enhancers for SHROOM1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SHROOM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SHROOM1

Top Transcription factor binding sites by QIAGEN in the SHROOM1 gene promoter:
  • AP-2gamma
  • CBF(2)
  • E47
  • FOXO1
  • Hand1
  • Ik-2
  • NF-Y
  • SEF-1 (1)
  • Tal-1beta

Genomic Locations for SHROOM1 Gene

Genomic Locations for SHROOM1 Gene
chr5:132,822,141-132,831,621
(GRCh38/hg38)
Size:
9,481 bases
Orientation:
Minus strand
chr5:132,157,833-132,166,590
(GRCh37/hg19)
Size:
8,758 bases
Orientation:
Minus strand

Genomic View for SHROOM1 Gene

Genes around SHROOM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SHROOM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SHROOM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHROOM1 Gene

Proteins for SHROOM1 Gene

  • Protein details for SHROOM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M3G4-SHRM1_HUMAN
    Recommended name:
    Protein Shroom1
    Protein Accession:
    Q2M3G4
    Secondary Accessions:
    • B7WP40
    • B7ZL01
    • Q8TDP0
    • Q8TF41

    Protein attributes for SHROOM1 Gene

    Size:
    852 amino acids
    Molecular mass:
    90786 Da
    Quaternary structure:
    • Interacts with F-actin.
    SequenceCaution:
    • Sequence=BAB85546.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SHROOM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHROOM1 Gene

Post-translational modifications for SHROOM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SHROOM1 Gene

Domains & Families for SHROOM1 Gene

Gene Families for SHROOM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHROOM1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SHROOM1 Gene

GenScript: Design optimal peptide antigens:
  • Apical protein 2 (SHRM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M3G4

UniProtKB/Swiss-Prot:

SHRM1_HUMAN :
  • The ASD1 domain mediates F-actin binding.
  • Belongs to the shroom family.
Domain:
  • The ASD1 domain mediates F-actin binding.
Family:
  • Belongs to the shroom family.
genes like me logo Genes that share domains with SHROOM1: view

Function for SHROOM1 Gene

Molecular function for SHROOM1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in the assembly of microtubule arrays during cell elongation.

Phenotypes From GWAS Catalog for SHROOM1 Gene

Gene Ontology (GO) - Molecular Function for SHROOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0045159 myosin II binding ISS 16684770
GO:0051015 actin filament binding ISS 16684770
genes like me logo Genes that share ontologies with SHROOM1: view
genes like me logo Genes that share phenotypes with SHROOM1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SHROOM1 Gene

Localization for SHROOM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHROOM1 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SHROOM1 gene
Compartment Confidence
cytoskeleton 4
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SHROOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005912 adherens junction IBA 21873635
GO:0016324 apical plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with SHROOM1: view

Pathways & Interactions for SHROOM1 Gene

PathCards logo

SuperPathways for SHROOM1 Gene

No Data Available

Interacting Proteins for SHROOM1 Gene

;

Gene Ontology (GO) - Biological Process for SHROOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis ISS 16684770
GO:0007015 actin filament organization IBA 21873635
GO:0030036 actin cytoskeleton organization IBA 21873635
GO:0051017 actin filament bundle assembly ISS 16684770
genes like me logo Genes that share ontologies with SHROOM1: view

No data available for Pathways by source and SIGNOR curated interactions for SHROOM1 Gene

Drugs & Compounds for SHROOM1 Gene

No Compound Related Data Available

Transcripts for SHROOM1 Gene

mRNA/cDNA for SHROOM1 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SHROOM1 Gene

No ASD Table

Relevant External Links for SHROOM1 Gene

GeneLoc Exon Structure for
SHROOM1

Expression for SHROOM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SHROOM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHROOM1 Gene

This gene is overexpressed in Liver (x9.6), Bladder (x6.6), and Prostate (x4.8).

Protein differential expression in normal tissues from HIPED for SHROOM1 Gene

This gene is overexpressed in Fetal gut (14.6), Adrenal (11.0), CD8 Tcells (8.8), and Liver (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SHROOM1 Gene



Protein tissue co-expression partners for SHROOM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SHROOM1

SOURCE GeneReport for Unigene cluster for SHROOM1 Gene:

Hs.519574

Evidence on tissue expression from TISSUES for SHROOM1 Gene

  • Liver(4.3)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with SHROOM1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SHROOM1 Gene

Orthologs for SHROOM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHROOM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHROOM1 31 30
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SHROOM1 31 30
  • 81.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SHROOM1 31 30
  • 80.68 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shroom1 30
  • 74.21 (n)
mouse
(Mus musculus)
Mammalia Shroom1 17 31 30
  • 73.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM1 31
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 16 (a)
OneToMany
-- 31
  • 14 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SHROOM1 31
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii shroom1 31
  • 12 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shroom 31
  • 9 (a)
OneToMany
Species where no ortholog for SHROOM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SHROOM1 Gene

ENSEMBL:
Gene Tree for SHROOM1 (if available)
TreeFam:
Gene Tree for SHROOM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SHROOM1: view image

Paralogs for SHROOM1 Gene

Paralogs for SHROOM1 Gene

genes like me logo Genes that share paralogs with SHROOM1: view

Variants for SHROOM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SHROOM1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
771153 Benign: not provided 132,823,884(-) C/T MISSENSE_VARIANT
787536 Benign: not provided 132,825,178(-) G/A SYNONYMOUS_VARIANT
rs2292030 - p.Pro180Leu

Additional dbSNP identifiers (rs#s) for SHROOM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SHROOM1 Gene

Variant ID Type Subtype PubMed ID
esv1003435 CNV deletion 20482838
esv3890740 CNV loss 25118596
nsv830489 CNV loss 17160897
nsv950395 CNV deletion 24416366

Variation tolerance for SHROOM1 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SHROOM1 Gene

Human Gene Mutation Database (HGMD)
SHROOM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SHROOM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHROOM1 Gene

Disorders for SHROOM1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SHROOM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 2
  • asd2
atrial septal defect 1
  • asd1
punctate palmoplantar keratoderma
  • punctate keratosis palmoplantaris
atrial heart septal defect
  • atrial septal defect
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SHROOM1

genes like me logo Genes that share disorders with SHROOM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SHROOM1 Gene

Publications for SHROOM1 Gene

  1. A new standard nomenclature for proteins related to Apx and Shroom. (PMID: 16615870) Hagens O … Wallingford JB (BMC cell biology 2006) 2 3 4 54
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. SOCS2 Binds to and Regulates EphA2 through Multiple Mechanisms. (PMID: 28883622) Pilling C … Cooper JA (Scientific reports 2017) 3 54
  5. Identification of differentially methylated regions in new genes associated with knee osteoarthritis. (PMID: 26484395) Bonin CA … Westendorf JJ (Gene 2016) 3 54

Products for SHROOM1 Gene

Sources for SHROOM1 Gene