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Q13796 (SHRM2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein Shroom2
Alternative name(s):
Apical-like protein
Protein APXL
Gene names
Name:SHROOM2
Synonyms:APXL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1616 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution By similarity.

Subunit structure

Interacts with F-actin By similarity.

Subcellular location

Apical cell membrane By similarity. Cell junctiontight junction By similarity. Cytoplasmcytoskeleton By similarity. Note: Associates with cortical F-actin By similarity.

Tissue specificity

Abundant in retina and melanoma; also in brain, placenta, lung, kidney and pancreas.

Domain

The ASD1 domain mediates F-actin binding By similarity.

Sequence similarities

Belongs to the shroom family.

Contains 1 ASD1 domain.

Contains 1 ASD2 domain.

Contains 1 PDZ (DHR) domain.

Ontologies

Keywords
   Cellular componentCell junction
Cell membrane
Cytoplasm
Cytoskeleton
Membrane
Microtubule
Tight junction
   Coding sequence diversityPolymorphism
   LigandActin-binding
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processapical protein localization

Inferred from sequence or structural similarity. Source: HGNC

brain development

Inferred from sequence or structural similarity. Source: HGNC

camera-type eye development

Inferred from sequence or structural similarity. Source: HGNC

camera-type eye morphogenesis

Inferred from sequence or structural similarity. Source: HGNC

cell migration

Inferred from sequence or structural similarity. Source: UniProtKB

cell-cell junction maintenance

Inferred from electronic annotation. Source: Ensembl

cellular pigment accumulation

Inferred from sequence or structural similarity. Source: HGNC

ear development

Inferred from sequence or structural similarity. Source: HGNC

establishment of melanosome localization

Inferred from sequence or structural similarity. Source: HGNC

eye pigment granule organization

Inferred from sequence or structural similarity. Source: HGNC

lens morphogenesis in camera-type eye

Inferred from sequence or structural similarity. Source: HGNC

melanosome organization

Inferred from sequence or structural similarity. Source: HGNC

negative regulation of actin filament depolymerization

Inferred from electronic annotation. Source: Ensembl

sodium ion transmembrane transport

Traceable author statement Ref.1. Source: GOC

   Cellular_componentapical plasma membrane

Inferred from sequence or structural similarity PubMed 16684770. Source: UniProtKB

cell cortex

Inferred from electronic annotation. Source: Ensembl

cell-cell adherens junction

Inferred from sequence or structural similarity PubMed 16684770. Source: UniProtKB

cytoskeleton

Inferred from sequence or structural similarity. Source: UniProtKB

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

filamentous actin

Inferred from electronic annotation. Source: Ensembl

microtubule

Inferred from electronic annotation. Source: UniProtKB-KW

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

tight junction

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionactin binding

Inferred from sequence or structural similarity. Source: UniProtKB

actin filament binding

Inferred from sequence or structural similarity PubMed 16684770. Source: UniProtKB

beta-catenin binding

Inferred from sequence or structural similarity PubMed 16684770. Source: UniProtKB

ligand-gated sodium channel activity

Traceable author statement Ref.1. Source: ProtInc

protein binding

Inferred from physical interaction PubMed 17474147. Source: IntAct

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NCK1P163332EBI-1644065,EBI-389883

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16161616Protein Shroom2
PRO_0000064650

Regions

Domain26 – 10883PDZ
Domain684 – 77390ASD1
Domain1317 – 1611295ASD2
Compositional bias150 – 1534Poly-Ser
Compositional bias314 – 3207Poly-Pro
Compositional bias343 – 3464Poly-Ala
Compositional bias1065 – 10684Poly-Pro

Amino acid modifications

Modified residue2311Phosphoserine By similarity
Modified residue9221Phosphoserine By similarity
Modified residue9741Phosphoserine Ref.5
Modified residue10361Phosphoserine Ref.5
Modified residue10391Phosphoserine Ref.5

Natural variations

Natural variant9421D → E.
Corresponds to variant rs16985780 [ dbSNP | Ensembl ].
VAR_053896
Natural variant12451D → H in a breast cancer sample; somatic mutation. Ref.6
VAR_036577
Natural variant14751I → V.
Corresponds to variant rs12012202 [ dbSNP | Ensembl ].
VAR_053897
Natural variant16071L → F.
Corresponds to variant rs2073942 [ dbSNP | Ensembl ].
VAR_024250

Sequences

Sequence LengthMass (Da)Tools
Q13796 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 752406B5BC0B60A2

FASTA1,616176,410
        10         20         30         40         50         60 
MEGAEPRARP ERLAEAETRA ADGGRLVEVQ LSGGAPWGFT LKGGREHGEP LVITKIEEGS 

        70         80         90        100        110        120 
KAAAVDKLLA GDEIVGINDI GLSGFRQEAI CLVKGSHKTL KLVVKRRSEL GWRPHSWHAT 

       130        140        150        160        170        180 
KFSDSHPELA ASPFTSTSGC PSWSGRHHAS SSSHDLSSSW EQTNLQRTLD HFSSLGSVDS 

       190        200        210        220        230        240 
LDHPSSRLSV AKSNSSIDHL GSHSKRDSAY GSFSTSSSTP DHTLSKADTS SAENILYTVG 

       250        260        270        280        290        300 
LWEAPRQGGR QAQAAGDPQG SEEKLSCFPP RVPGDSGKGP RPEYNAEPKL AAPGRSNFGP 

       310        320        330        340        350        360 
VWYVPDKKKA PSSPPPPPPP LRSDSFAATK SHEKAQGPVF SEAAAAQHFT ALAQAQPRGD 

       370        380        390        400        410        420 
RRPELTDRPW RSAHPGSLGK GSGGPGCPQE AHADGSWPPS KDGASSRLQA SLSSSDVRFP 

       430        440        450        460        470        480 
QSPHSGRHPP LYSDHSPLCA DSLGQEPGAA SFQNDSPPQV RGLSSCDQKL GSGWQGPRPC 

       490        500        510        520        530        540 
VQGDLQAAQL WAGCWPSDTA LGALESLPPP TVGQSPRHHL PQPEGPPDAR ETGRCYPLDK 

       550        560        570        580        590        600 
GAEGCSAGAQ EPPRASRAEK ASQRLAASIT WADGESSRIC PQETPLLHSL TQEGKRRPES 

       610        620        630        640        650        660 
SPEDSATRPP PFDAHVGKPT RRSDRFATTL RNEIQMHRAK LQKSRSTVAL TAAGEAEDGT 

       670        680        690        700        710        720 
GRWRAGLGGG TQEGPLAGTY KDHLKEAQAR VLRATSFKRR DLDPNPGDLY PESLEHRMGD 

       730        740        750        760        770        780 
PDTVPHFWEA GLAQPPSSTS GGPHPPRIGG RRRFTAEQKL KSYSEPEKMN EVGLTRGYSP 

       790        800        810        820        830        840 
HQHPRTSEDT VGTFADRWKF FEETSKPVPQ RPAQKQALHG IPRDKPERPR TAGRTCEGTE 

       850        860        870        880        890        900 
PWSRTTSLGD SLNAHSAAEK AGTSDLPRRL GTFAEYQASW KEQRKPLEAR SSGRCHSADD 

       910        920        930        940        950        960 
ILDVSLDPQE RPQHVHGRSR SSPSTDHYKQ EASVELRRQA GDPGEPREEL PSAVRAEEGQ 

       970        980        990       1000       1010       1020 
STPRQADAQC REGSPGSQQH PPSQKAPNPP TFSELSHCRG APELPREGRG RAGTLPRDYR 

      1030       1040       1050       1060       1070       1080 
YSEESTPADL GPRAQSPGSP LHARGQDSWP VSSALLSKRP APQRPPPPKR EPRRYRATDG 

      1090       1100       1110       1120       1130       1140 
APADAPVGVL GRPFPTPSPA SLDVYVARLS LSHSPSVFSS AQPQDTPKAT VCERGSQHVS 

      1150       1160       1170       1180       1190       1200 
GDASRPLPEA LLPPKQQHLR LQTATMETSR SPSPQFAPQK LTDKPPLLIQ DEDSTRIERV 

      1210       1220       1230       1240       1250       1260 
MDNNTTVKMV PIKIVHSESQ PEKESRQSLA CPAEPPALPH GLEKDQIKTL STSEQFYSRF 

      1270       1280       1290       1300       1310       1320 
CLYTRQGAEP EAPHRAQPAE PQPLGTQVPP EKDRCTSPPG LSYMKAKEKT VEDLKSEELA 

      1330       1340       1350       1360       1370       1380 
REIVGKDKSL ADILDPSVKI KTTMDLMEGI FPKDEHLLEE AQQRRKLLPK IPSPRSTEER 

      1390       1400       1410       1420       1430       1440 
KEEPSVPAAV SLATNSTYYS TSAPKAELLI KMKDLQEQQE HEEDSGSDLD HDLSVKKQEL 

      1450       1460       1470       1480       1490       1500 
IESISRKLQV LREARESLLE DVQANTVLGA EVEAIVKGVC KPSEFDKFRM FIGDLDKVVN 

      1510       1520       1530       1540       1550       1560 
LLLSLSGRLA RVENALNNLD DGASPGDRQS LLEKQRVLIQ QHEDAKELKE NLDRRERIVF 

      1570       1580       1590       1600       1610 
DILANYLSEE SLADYEHFVK MKSALIIEQR ELEDKIHLGE EQLKCLLDSL QPERGK 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region."
Schiaffino V.M., Bassi M.T., Rugarli E.I., Renieri A., Galli L., Ballabio A.
Hum. Mol. Genet. 4:373-382(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Retina.
[2]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"A new standard nomenclature for proteins related to Apx and Shroom."
Hagens O., Ballabio A., Kalscheuer V., Kraehenbuhl J.-P., Schiaffino M.V., Smith P., Staub O., Hildebrand J.D., Wallingford J.B.
BMC Cell Biol. 7:18-18(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NOMENCLATURE.
[5]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-974; SER-1036 AND SER-1039, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-1245.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X83543 mRNA. Translation: CAA58534.1.
AC002365 Genomic DNA. Translation: AAC32592.1.
AC090481 Genomic DNA. No translation available.
BC140866 mRNA. Translation: AAI40867.1.
CCDSCCDS14135.1.
PIRI37183.
RefSeqNP_001640.1. NM_001649.2.
UniGeneHs.567236.

3D structure databases

ProteinModelPortalQ13796.
SMRQ13796. Positions 27-108, 1436-1609.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106853. 1 interaction.
IntActQ13796. 5 interactions.
STRING9606.ENSP00000370299.

PTM databases

PhosphoSiteQ13796.

Polymorphism databases

DMDM2498147.

Proteomic databases

MaxQBQ13796.
PaxDbQ13796.
PRIDEQ13796.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000380913; ENSP00000370299; ENSG00000146950.
GeneID357.
KEGGhsa:357.
UCSCuc004csu.1. human.

Organism-specific databases

CTD357.
GeneCardsGC0XP009714.
HGNCHGNC:630. SHROOM2.
HPAHPA051646.
MIM300103. gene.
neXtProtNX_Q13796.
PharmGKBPA24916.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72784.
HOGENOMHOG000008235.
HOVERGENHBG096290.
InParanoidQ13796.
OMAWKEQRKP.
OrthoDBEOG73V6JC.
PhylomeDBQ13796.
TreeFamTF333370.

Gene expression databases

ArrayExpressQ13796.
BgeeQ13796.
CleanExHS_SHROOM2.
GenevestigatorQ13796.

Family and domain databases

Gene3D2.30.42.10. 1 hit.
InterProIPR014800. ASD1.
IPR014799. ASD2.
IPR001478. PDZ.
IPR027686. Shroom2.
IPR027685. Shroom_fam.
[Graphical view]
PANTHERPTHR15012. PTHR15012. 1 hit.
PTHR15012:SF8. PTHR15012:SF8. 1 hit.
PfamPF08688. ASD1. 1 hit.
PF08687. ASD2. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMSSF50156. SSF50156. 1 hit.
PROSITEPS51306. ASD1. 1 hit.
PS51307. ASD2. 1 hit.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSHROOM2. human.
GenomeRNAi357.
NextBio1493.
PROQ13796.
SOURCESearch...

Entry information

Entry nameSHRM2_HUMAN
AccessionPrimary (citable) accession number: Q13796
Secondary accession number(s): B9EIQ7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM