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Aliases for SHROOM1 Gene

Aliases for SHROOM1 Gene

  • Shroom Family Member 1 2 3 5
  • Apical Protein 2 3 4
  • APXL2 3 4
  • Protein Shroom1 3
  • 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 Heart Septal Defect. GO annotations related to this gene include actin filament binding. An important paralog of this gene is SHROOM3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SHROOM1 Gene

Genomics for SHROOM1 Gene

Regulatory Elements for SHROOM1 Gene

Enhancers for SHROOM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H132836 1.5 Ensembl ENCODE dbSUPER 17.7 -7.7 -7707 5 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SLC30A9 FOS ATF7 SHROOM1 GDF9 GC05M132843
GH05H132770 1.5 Ensembl ENCODE dbSUPER 11.3 +57.1 57119 7 HDGF PKNOX1 ARID4B SIN3A ZBTB7B YY1 TCF12 ZNF766 GLIS2 GATA2 SEPT8 CCNI2 KIF3A SOWAHA SHROOM1 TH2LCRR IL13 IL4 RNU7-15P RNA5SP192
GH05H132384 1.5 Ensembl ENCODE dbSUPER 10.6 +443.9 443937 6 HDGF ARID4B SIN3A ZBTB7B YY1 GLIS2 ZNF143 ZNF207 ATF7 FOS MIR3936HG SLC22A5 RAD50 ENSG00000248648 C5orf56 IRF1 ENSG00000202533 LOC105379175 LOC102723741 SOWAHA
GH05H132767 1 Ensembl ENCODE dbSUPER 11.3 +63.8 63753 1 ZSCAN4 PRDM10 FOXP2 SEPT8 CCNI2 KIF3A SHROOM1 SOWAHA TH2LCRR IL4 RNU7-15P RNA5SP192 ENSG00000230612
GH05H132871 1 ENCODE 11 -41.7 -41677 3 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 GATA2 ATF7 PAF1 SP5 GDF9 AFF4 RNA5SP192 RNU7-15P SHROOM1 LEAP2 GC05P132913
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SHROOM1 on UCSC Golden Path with GeneCards custom track

Promoters for SHROOM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186906 1121 1401 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 ZNF207 SP3 SP5 ZHX2

Genomic Location for SHROOM1 Gene

Chromosome:
5
Start:
132,822,141 bp from pter
End:
132,831,621 bp from pter
Size:
9,481 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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SHROOM1 Gene

Suggested Antigen Peptide Sequences for SHROOM1 Gene

GenScript: Design optimal peptide antigens:

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: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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SHROOM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 3
nucleus 3
cytosol 2

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:0016460 colocalizes_with myosin II complex ISS 16684770
genes like me logo Genes that share ontologies with SHROOM1: view

Pathways & Interactions for SHROOM1 Gene

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: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

Unigene Clusters for SHROOM1 Gene

Shroom family member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SHROOM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for SHROOM1 Gene

GeneLoc Exon Structure for
SHROOM1
ECgene alternative splicing isoforms for
SHROOM1

Expression for SHROOM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SHROOM1 Gene



Protein tissue co-expression partners for SHROOM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SHROOM1 Gene:

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

Primer Products

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 33 34
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia SHROOM1 33 34
  • 81.88 (n)
dog
(Canis familiaris)
Mammalia SHROOM1 33 34
  • 80.68 (n)
rat
(Rattus norvegicus)
Mammalia Shroom1 33
  • 74.21 (n)
mouse
(Mus musculus)
Mammalia Shroom1 33 16 34
  • 73.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SHROOM1 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 16 (a)
OneToMany
-- 34
  • 14 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia SHROOM1 34
  • 42 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii shroom1 34
  • 12 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Shroom 34
  • 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)

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 from dbSNP and Humsavar for SHROOM1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000078374 -- 132,832,614(+) AATGG(C/T)TATGT upstream-variant-2KB
rs1000432955 -- 132,828,499(+) CCACC(C/T)GACTG intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000732607 -- 132,822,859(+) GCCGG(A/G)CTGGG downstream-variant-500B, reference, synonymous-codon
rs1000888580 -- 132,828,755(+) ACATG(G/T)GTTTC intron-variant, upstream-variant-2KB, utr-variant-3-prime
rs1000991402 -- 132,833,292(+) TTAGC(C/T)TCACT upstream-variant-2KB

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)

Relevant External Links 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

(2) MalaCards diseases for SHROOM1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 2
  • atrial heart septal defect 2
atrial heart septal defect
  • atrial septal defect
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SHROOM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Identification of differentially methylated regions in new genes associated with knee osteoarthritis. (PMID: 26484395) Bonin CA … Westendorf JJ (Gene 2016) 3 60
  5. Structure of the Shroom-Rho Kinase Complex Reveals a Binding Interface with Monomeric Shroom That Regulates Cell Morphology and Stimulates Kinase Activity. (PMID: 27758857) Zalewski JK … VanDemark AP (The Journal of biological chemistry 2016) 3 60

Products for SHROOM1 Gene

Sources for SHROOM1 Gene

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