• Gene id: 57619

Gene Summary

• Gene Symbol: SHROOM3   Gene   UCSC   Ensembl
• Aliases: APXL3, MSTP013, SHRM, ShrmL
• Gene name: shroom family member 3
• Alternate names: protein Shroom3, F-actin-binding protein, shroom-related protein,
• Gene location: 4q21.1 (76435228: 76783252)     Exons: 11     NC_000004.12
• Gene summary(Entrez): 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 Ref
• OMIM: 604570

Protein Summary

• Protein general information: Q8TF72  
  • Name: Protein Shroom3 (Shroom related protein) (hShrmL)
  • Length: 1996  
  • Mass: 216857
• Sequence:

  MMRTTEDFHKPSATLNSNTATKGRYIYLEAFLEGGAPWGFTLKGGLEHGEPLIISKVEEGGKADTLSSKLQAGDE
  VVHINEVTLSSSRKEAVSLVKGSYKTLRLVVRRDVCTDPGHADTGASNFVSPEHLTSGPQHRKAAWSGGVKLRLK
  HRRSEPAGRPHSWHTTKSGEKQPDASMMQISQGMIGPPWHQSYHSSSSTSDLSNYDHAYLRRSPDQCSSQGSMES
  LEPSGAYPPCHLSPAKSTGSIDQLSHFHNKRDSAYSSFSTSSSILEYPHPGISGRERSGSMDNTSARGGLLEGMR
  QADIRYVKTVYDTRRGVSAEYEVNSSALLLQGREARASANGQGYDKWSNIPRGKGVPPPSWSQQCPSSLETATDN
  LPPKVGAPLPPARSDSYAAFRHRERPSSWSSLDQKRLCRPQANSLGSLKSPFIEEQLHTVLEKSPENSPPVKPKH
  NYTQKAQPGQPLLPTSIYPVPSLEPHFAQVPQPSVSSNGMLYPALAKESGYIAPQGACNKMATIDENGNQNGSGR
  PGFAFCQPLEHDLLSPVEKKPEATAKYVPSKVHFCSVPENEEDASLKRHLTPPQGNSPHSNERKSTHSNKPSSHP
  HSLKCPQAQAWQAGEDKRSSRLSEPWEGDFQEDHNANLWRRLEREGLGQSLSGNFGKTKSAFSSLQNIPESLRRH
  SSLELGRGTQEGYPGGRPTCAVNTKAEDPGRKAAPDLGSHLDRQVSYPRPEGRTGASASFNSTDPSPEEPPAPSH
  PHTSSLGRRGPGPGSASALQGFQYGKPHCSVLEKVSKFEQREQGSQRPSVGGSGFGHNYRPHRTVSTSSTSGNDF
  EETKAHIRFSESAEPLGNGEQHFKNGELKLEEASRQPCGQQLSGGASDSGRGPQRPDARLLRSQSTFQLSSEPER
  EPEWRDRPGSPESPLLDAPFSRAYRNSIKDAQSRVLGATSFRRRDLELGAPVASRSWRPRPSSAHVGLRSPEASA
  SASPHTPRERHSVTPAEGDLARPVPPAARRGARRRLTPEQKKRSYSEPEKMNEVGIVEEAEPAPLGPQRNGMRFP
  ESSVADRRRLFERDGKACSTLSLSGPELKQFQQSALADYIQRKTGKRPTSAAGCSLQEPGPLRERAQSAYLQPGP
  AALEGSGLASASSLSSLREPSLQPRREATLLPATVAETQQAPRDRSSSFAGGRRLGERRRGDLLSGANGGTRGTQ
  RGDETPREPSSWGARAGKSMSAEDLLERSDVLAGPVHVRSRSSPATADKRQDVLLGQDSGFGLVKDPCYLAGPGS
  RSLSCSERGQEEMLPLFHHLTPRWGGSGCKAIGDSSVPSECPGTLDHQRQASRTPCPRPPLAGTQGLVTDTRAAP
  LTPIGTPLPSAIPSGYCSQDGQTGRQPLPPYTPAMMHRSNGHTLTQPPGPRGCEGDGPEHGVEEGTRKRVSLPQW
  PPPSRAKWAHAAREDSLPEESSAPDFANLKHYQKQQSLPSLCSTSDPDTPLGAPSTPGRISLRISESVLRDSPPP
  HEDYEDEVFVRDPHPKATSSPTFEPLPPPPPPPPSQETPVYSMDDFPPPPPHTVCEAQLDSEDPEGPRPSFNKLS
  KVTIARERHMPGAAHVVGSQTLASRLQTSIKGSEAESTPPSFMSVHAQLAGSLGGQPAPIQTQSLSHDPVSGTQG
  LEKKVSPDPQKSSEDIRTEALAKEIVHQDKSLADILDPDSRLKTTMDLMEGLFPRDVNLLKENSVKRKAIQRTVS
  SSGCEGKRNEDKEAVSMLVNCPAYYSVSAPKAELLNKIKEMPAEVNEEEEQADVNEKKAELIGSLTHKLETLQEA
  KGSLLTDIKLNNALGEEVEALISELCKPNEFDKYRMFIGDLDKVVNLLLSLSGRLARVENVLSGLGEDASNEERS
  SLYEKRKILAGQHEDARELKENLDRRERVVLGILANYLSEEQLQDYQHFVKMKSTLLIEQRKLDDKIKLGQEQVK
  CLLESLPSDFIPKAGALALPPNLTSEPIPAGGCTFSGIFPTLTSPL

• Structural information:
  • Protein Domains: (25..11-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (928..103-)
    (/note="ASD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00637-)
    (1669..195-)
    (/note="ASD2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00638"-)
  • Interpro: IPR014800  IPR014799  IPR001478  IPR036034  IPR030494   IPR027685  
  • Prosite: PS51306 PS51307 PS50106
  • PDB: 6FBB 6FCP
  • PDBsum: 6FBB 6FCP
  • STRING: ENSP00000296043
• Other Databases: GeneCards:  SHROOM3  Malacards:  SHROOM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005912	adherens junction	ISS	cellular component
GO:0045176	apical protein localization	ISS	biological process
GO:0000902	cell morphogenesis	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0043482	cellular pigment accumulation	ISS	biological process
GO:0005856	cytoskeleton	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0030864	cortical actin cytoskeleton	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0051015	actin filament binding	IBA	molecular function
GO:0043296	apical junction complex	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0005912	adherens junction	IBA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0001843	neural tube closure	IEA	biological process
GO:0002064	epithelial cell development	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0008360	regulation of cell shape	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0043296	apical junction complex	ISS	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray