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Q13796

- SHRM2_HUMAN

UniProt

Q13796 - SHRM2_HUMAN

Protein

Protein Shroom2

Gene

SHROOM2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Molecular functioni

    1. actin binding Source: UniProtKB
    2. actin filament binding Source: UniProtKB
    3. beta-catenin binding Source: UniProtKB
    4. ligand-gated sodium channel activity Source: ProtInc
    5. protein binding Source: IntAct

    GO - Biological processi

    1. apical protein localization Source: HGNC
    2. brain development Source: HGNC
    3. camera-type eye development Source: HGNC
    4. camera-type eye morphogenesis Source: HGNC
    5. cell-cell junction maintenance Source: Ensembl
    6. cell migration Source: UniProtKB
    7. cellular pigment accumulation Source: HGNC
    8. ear development Source: HGNC
    9. establishment of melanosome localization Source: HGNC
    10. eye pigment granule organization Source: HGNC
    11. lens morphogenesis in camera-type eye Source: HGNC
    12. melanosome organization Source: HGNC
    13. negative regulation of actin filament depolymerization Source: Ensembl
    14. sodium ion transmembrane transport Source: GOC

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein Shroom2
    Alternative name(s):
    Apical-like protein
    Protein APXL
    Gene namesi
    Name:SHROOM2
    Synonyms:APXL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:630. SHROOM2.

    Subcellular locationi

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

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. cell-cell adherens junction Source: UniProtKB
    3. cell cortex Source: Ensembl
    4. cytoskeleton Source: UniProtKB
    5. extracellular vesicular exosome Source: UniProt
    6. filamentous actin Source: Ensembl
    7. microtubule Source: UniProtKB-KW
    8. neuronal cell body Source: Ensembl
    9. plasma membrane Source: UniProtKB
    10. tight junction Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Microtubule, Tight junction

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24916.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16161616Protein Shroom2PRO_0000064650Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei231 – 2311PhosphoserineBy similarity
    Modified residuei922 – 9221PhosphoserineBy similarity
    Modified residuei974 – 9741Phosphoserine1 Publication
    Modified residuei1036 – 10361Phosphoserine1 Publication
    Modified residuei1039 – 10391Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ13796.
    PaxDbiQ13796.
    PRIDEiQ13796.

    PTM databases

    PhosphoSiteiQ13796.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ13796.
    BgeeiQ13796.
    CleanExiHS_SHROOM2.
    GenevestigatoriQ13796.

    Organism-specific databases

    HPAiHPA051646.

    Interactioni

    Subunit structurei

    Interacts with F-actin.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NCK1P163332EBI-1644065,EBI-389883

    Protein-protein interaction databases

    BioGridi106853. 1 interaction.
    IntActiQ13796. 5 interactions.
    STRINGi9606.ENSP00000370299.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13796.
    SMRiQ13796. Positions 27-108, 1436-1609.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini26 – 10883PDZPROSITE-ProRule annotationAdd
    BLAST
    Domaini684 – 77390ASD1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1317 – 1611295ASD2PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi150 – 1534Poly-Ser
    Compositional biasi314 – 3207Poly-Pro
    Compositional biasi343 – 3464Poly-Ala
    Compositional biasi1065 – 10684Poly-Pro

    Domaini

    The ASD1 domain mediates F-actin binding.By similarity

    Sequence similaritiesi

    Belongs to the shroom family.Curated
    Contains 1 ASD1 domain.PROSITE-ProRule annotation
    Contains 1 ASD2 domain.PROSITE-ProRule annotation
    Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG72784.
    HOGENOMiHOG000008235.
    HOVERGENiHBG096290.
    InParanoidiQ13796.
    OMAiWKEQRKP.
    OrthoDBiEOG73V6JC.
    PhylomeDBiQ13796.
    TreeFamiTF333370.

    Family and domain databases

    Gene3Di2.30.42.10. 1 hit.
    InterProiIPR014800. ASD1.
    IPR014799. ASD2.
    IPR001478. PDZ.
    IPR027686. Shroom2.
    IPR027685. Shroom_fam.
    [Graphical view]
    PANTHERiPTHR15012. PTHR15012. 1 hit.
    PTHR15012:SF8. PTHR15012:SF8. 1 hit.
    PfamiPF08688. ASD1. 1 hit.
    PF08687. ASD2. 1 hit.
    PF00595. PDZ. 1 hit.
    [Graphical view]
    SMARTiSM00228. PDZ. 1 hit.
    [Graphical view]
    SUPFAMiSSF50156. SSF50156. 1 hit.
    PROSITEiPS51306. ASD1. 1 hit.
    PS51307. ASD2. 1 hit.
    PS50106. PDZ. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q13796-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEGAEPRARP ERLAEAETRA ADGGRLVEVQ LSGGAPWGFT LKGGREHGEP     50
    LVITKIEEGS KAAAVDKLLA GDEIVGINDI GLSGFRQEAI CLVKGSHKTL 100
    KLVVKRRSEL GWRPHSWHAT KFSDSHPELA ASPFTSTSGC PSWSGRHHAS 150
    SSSHDLSSSW EQTNLQRTLD HFSSLGSVDS LDHPSSRLSV AKSNSSIDHL 200
    GSHSKRDSAY GSFSTSSSTP DHTLSKADTS SAENILYTVG LWEAPRQGGR 250
    QAQAAGDPQG SEEKLSCFPP RVPGDSGKGP RPEYNAEPKL AAPGRSNFGP 300
    VWYVPDKKKA PSSPPPPPPP LRSDSFAATK SHEKAQGPVF SEAAAAQHFT 350
    ALAQAQPRGD RRPELTDRPW RSAHPGSLGK GSGGPGCPQE AHADGSWPPS 400
    KDGASSRLQA SLSSSDVRFP QSPHSGRHPP LYSDHSPLCA DSLGQEPGAA 450
    SFQNDSPPQV RGLSSCDQKL GSGWQGPRPC VQGDLQAAQL WAGCWPSDTA 500
    LGALESLPPP TVGQSPRHHL PQPEGPPDAR ETGRCYPLDK GAEGCSAGAQ 550
    EPPRASRAEK ASQRLAASIT WADGESSRIC PQETPLLHSL TQEGKRRPES 600
    SPEDSATRPP PFDAHVGKPT RRSDRFATTL RNEIQMHRAK LQKSRSTVAL 650
    TAAGEAEDGT GRWRAGLGGG TQEGPLAGTY KDHLKEAQAR VLRATSFKRR 700
    DLDPNPGDLY PESLEHRMGD PDTVPHFWEA GLAQPPSSTS GGPHPPRIGG 750
    RRRFTAEQKL KSYSEPEKMN EVGLTRGYSP HQHPRTSEDT VGTFADRWKF 800
    FEETSKPVPQ RPAQKQALHG IPRDKPERPR TAGRTCEGTE PWSRTTSLGD 850
    SLNAHSAAEK AGTSDLPRRL GTFAEYQASW KEQRKPLEAR SSGRCHSADD 900
    ILDVSLDPQE RPQHVHGRSR SSPSTDHYKQ EASVELRRQA GDPGEPREEL 950
    PSAVRAEEGQ STPRQADAQC REGSPGSQQH PPSQKAPNPP TFSELSHCRG 1000
    APELPREGRG RAGTLPRDYR YSEESTPADL GPRAQSPGSP LHARGQDSWP 1050
    VSSALLSKRP APQRPPPPKR EPRRYRATDG APADAPVGVL GRPFPTPSPA 1100
    SLDVYVARLS LSHSPSVFSS AQPQDTPKAT VCERGSQHVS GDASRPLPEA 1150
    LLPPKQQHLR LQTATMETSR SPSPQFAPQK LTDKPPLLIQ DEDSTRIERV 1200
    MDNNTTVKMV PIKIVHSESQ PEKESRQSLA CPAEPPALPH GLEKDQIKTL 1250
    STSEQFYSRF CLYTRQGAEP EAPHRAQPAE PQPLGTQVPP EKDRCTSPPG 1300
    LSYMKAKEKT VEDLKSEELA REIVGKDKSL ADILDPSVKI KTTMDLMEGI 1350
    FPKDEHLLEE AQQRRKLLPK IPSPRSTEER KEEPSVPAAV SLATNSTYYS 1400
    TSAPKAELLI KMKDLQEQQE HEEDSGSDLD HDLSVKKQEL IESISRKLQV 1450
    LREARESLLE DVQANTVLGA EVEAIVKGVC KPSEFDKFRM FIGDLDKVVN 1500
    LLLSLSGRLA RVENALNNLD DGASPGDRQS LLEKQRVLIQ QHEDAKELKE 1550
    NLDRRERIVF DILANYLSEE SLADYEHFVK MKSALIIEQR ELEDKIHLGE 1600
    EQLKCLLDSL QPERGK 1616
    Length:1,616
    Mass (Da):176,410
    Last modified:November 1, 1996 - v1
    Checksum:i752406B5BC0B60A2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti942 – 9421D → E.
    Corresponds to variant rs16985780 [ dbSNP | Ensembl ].
    VAR_053896
    Natural varianti1245 – 12451D → H in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036577
    Natural varianti1475 – 14751I → V.
    Corresponds to variant rs12012202 [ dbSNP | Ensembl ].
    VAR_053897
    Natural varianti1607 – 16071L → F.
    Corresponds to variant rs2073942 [ dbSNP | Ensembl ].
    VAR_024250

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83543 mRNA. Translation: CAA58534.1.
    AC002365 Genomic DNA. Translation: AAC32592.1.
    AC090481 Genomic DNA. No translation available.
    BC140866 mRNA. Translation: AAI40867.1.
    CCDSiCCDS14135.1.
    PIRiI37183.
    RefSeqiNP_001640.1. NM_001649.2.
    UniGeneiHs.567236.

    Genome annotation databases

    EnsembliENST00000380913; ENSP00000370299; ENSG00000146950.
    GeneIDi357.
    KEGGihsa:357.
    UCSCiuc004csu.1. human.

    Polymorphism databases

    DMDMi2498147.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X83543 mRNA. Translation: CAA58534.1 .
    AC002365 Genomic DNA. Translation: AAC32592.1 .
    AC090481 Genomic DNA. No translation available.
    BC140866 mRNA. Translation: AAI40867.1 .
    CCDSi CCDS14135.1.
    PIRi I37183.
    RefSeqi NP_001640.1. NM_001649.2.
    UniGenei Hs.567236.

    3D structure databases

    ProteinModelPortali Q13796.
    SMRi Q13796. Positions 27-108, 1436-1609.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106853. 1 interaction.
    IntActi Q13796. 5 interactions.
    STRINGi 9606.ENSP00000370299.

    PTM databases

    PhosphoSitei Q13796.

    Polymorphism databases

    DMDMi 2498147.

    Proteomic databases

    MaxQBi Q13796.
    PaxDbi Q13796.
    PRIDEi Q13796.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000380913 ; ENSP00000370299 ; ENSG00000146950 .
    GeneIDi 357.
    KEGGi hsa:357.
    UCSCi uc004csu.1. human.

    Organism-specific databases

    CTDi 357.
    GeneCardsi GC0XP009714.
    HGNCi HGNC:630. SHROOM2.
    HPAi HPA051646.
    MIMi 300103. gene.
    neXtProti NX_Q13796.
    PharmGKBi PA24916.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG72784.
    HOGENOMi HOG000008235.
    HOVERGENi HBG096290.
    InParanoidi Q13796.
    OMAi WKEQRKP.
    OrthoDBi EOG73V6JC.
    PhylomeDBi Q13796.
    TreeFami TF333370.

    Miscellaneous databases

    ChiTaRSi SHROOM2. human.
    GenomeRNAii 357.
    NextBioi 1493.
    PROi Q13796.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13796.
    Bgeei Q13796.
    CleanExi HS_SHROOM2.
    Genevestigatori Q13796.

    Family and domain databases

    Gene3Di 2.30.42.10. 1 hit.
    InterProi IPR014800. ASD1.
    IPR014799. ASD2.
    IPR001478. PDZ.
    IPR027686. Shroom2.
    IPR027685. Shroom_fam.
    [Graphical view ]
    PANTHERi PTHR15012. PTHR15012. 1 hit.
    PTHR15012:SF8. PTHR15012:SF8. 1 hit.
    Pfami PF08688. ASD1. 1 hit.
    PF08687. ASD2. 1 hit.
    PF00595. PDZ. 1 hit.
    [Graphical view ]
    SMARTi SM00228. PDZ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50156. SSF50156. 1 hit.
    PROSITEi PS51306. ASD1. 1 hit.
    PS51307. ASD2. 1 hit.
    PS50106. PDZ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-1245.

    Entry informationi

    Entry nameiSHRM2_HUMAN
    AccessioniPrimary (citable) accession number: Q13796
    Secondary accession number(s): B9EIQ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 119 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3