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SHROOM1 shroom family member 1 [ Homo sapiens (human) ]

Gene ID: 134549, updated on 2-Oct-2018

Summary

Official Symbol
SHROOM1provided by HGNC
Official Full Name
shroom family member 1provided by HGNC
Primary source
HGNC:HGNC:24084
See related
Ensembl:ENSG00000164403 MIM:611179; Vega:OTTHUMG00000059835
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
Also known as
APXL2
Summary
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]
Expression
Broad expression in prostate (RPKM 16.8), urinary bladder (RPKM 6.1) and 15 other tissues See more
Orthologs

Genomic context

See SHROOM1 in Genome Data Viewer
Location:
5q31.1
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (132822141..132831627, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (132157833..132166655, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cyclin I family member 2 Neighboring gene septin 8 Neighboring gene sosondowah ankyrin repeat domain family member A Neighboring gene laforin-like Neighboring gene RNA, U7 small nuclear 15 pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 192

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1960

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
myosin II binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical junction complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein Shroom1
Names
apical protein 2

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_001172700.1NP_001166171.1  protein Shroom1 isoform 1

    See identical proteins and their annotated locations for NP_001166171.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB075840, EB387851
    Consensus CDS
    CCDS54902.1
    UniProtKB/Swiss-Prot
    Q2M3G4
    Related
    ENSP00000367950.3, OTTHUMP00000066201, ENST00000378679.7, OTTHUMT00000133033
    Conserved Domains (2) summary
    pfam08687
    Location:544823
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1
  2. NM_133456.2NP_597713.2  protein Shroom1 isoform 2

    See identical proteins and their annotated locations for NP_597713.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses a downstream start codon, and uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) has a shorter N-terminus and lacks a 5-aa segment near the C-terminus, compared to isoform 1.
    Source sequence(s)
    AF314142, BC104916, EB387851
    Consensus CDS
    CCDS4161.1
    UniProtKB/Swiss-Prot
    Q2M3G4
    Related
    ENSP00000324245.3, OTTHUMP00000066202, ENST00000319854.7, OTTHUMT00000133034
    Conserved Domains (2) summary
    pfam08687
    Location:544818
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    132822141..132831627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543167.3XP_011541469.1  protein Shroom1 isoform X1

    See identical proteins and their annotated locations for XP_011541469.1

    UniProtKB/Swiss-Prot
    Q2M3G4
    Conserved Domains (2) summary
    pfam08687
    Location:544823
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1
  2. XM_005271886.3XP_005271943.1  protein Shroom1 isoform X1

    See identical proteins and their annotated locations for XP_005271943.1

    UniProtKB/Swiss-Prot
    Q2M3G4
    Related
    ENSP00000367947.1, OTTHUMP00000066204, ENST00000378676.1, OTTHUMT00000133039
    Conserved Domains (2) summary
    pfam08687
    Location:544823
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1
  3. XM_005271885.4XP_005271942.1  protein Shroom1 isoform X1

    See identical proteins and their annotated locations for XP_005271942.1

    UniProtKB/Swiss-Prot
    Q2M3G4
    Related
    ENSP00000478436.1, ENST00000617339.4
    Conserved Domains (2) summary
    pfam08687
    Location:544823
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1
  4. XM_024454367.1XP_024310135.1  protein Shroom1 isoform X2

    Conserved Domains (3) summary
    pfam08687
    Location:544651
    ASD2; Apx/Shroom domain ASD2
    pfam08688
    Location:140237
    ASD1; Apx/Shroom domain ASD1
    cl26464
    Location:70475
    Atrophin-1; Atrophin-1 family
  5. XM_006714534.3XP_006714597.1  protein Shroom1 isoform X3

    Conserved Domains (1) summary
    pfam08688
    Location:140233
    ASD1; Apx/Shroom domain ASD1

RNA

  1. XR_427704.3 RNA Sequence

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