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Q9NR46

- SHLB2_HUMAN

UniProt

Q9NR46 - SHLB2_HUMAN

Protein

Endophilin-B2

Gene

SH3GLB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Endophilin-B2
    Alternative name(s):
    SH3 domain-containing GRB2-like protein B2
    Gene namesi
    Name:SH3GLB2
    Synonyms:KIAA1848
    ORF Names:PP578
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:10834. SH3GLB2.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: HGNC

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35740.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 395395Endophilin-B2PRO_0000146755Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9NR46.
    PaxDbiQ9NR46.
    PRIDEiQ9NR46.

    PTM databases

    PhosphoSiteiQ9NR46.

    Expressioni

    Tissue specificityi

    Detected in skeletal muscle, adipocyte, brain, lung, colon and mammary gland.1 Publication

    Gene expression databases

    ArrayExpressiQ9NR46.
    BgeeiQ9NR46.
    CleanExiHS_SH3GLB2.
    GenevestigatoriQ9NR46.

    Organism-specific databases

    HPAiHPA021438.
    HPA024734.

    Interactioni

    Subunit structurei

    Homodimer, and heterodimer with SH3GLB1.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SH3GLB1Q9Y3715EBI-749607,EBI-2623095

    Protein-protein interaction databases

    BioGridi121234. 27 interactions.
    IntActiQ9NR46. 15 interactions.
    MINTiMINT-1458485.
    STRINGi9606.ENSP00000361640.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NR46.
    SMRiQ9NR46. Positions 18-232, 334-395.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini24 – 287264BARPROSITE-ProRule annotationAdd
    BLAST
    Domaini335 – 39561SH3PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 2727Membrane-binding amphipathic helixBy similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili116 – 13217Sequence AnalysisAdd
    BLAST
    Coiled coili206 – 24035Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the endophilin family.Curated
    Contains 1 BAR domain.PROSITE-ProRule annotation
    Contains 1 SH3 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, SH3 domain

    Phylogenomic databases

    eggNOGiNOG309804.
    HOGENOMiHOG000232056.
    HOVERGENiHBG054448.
    KOiK11248.
    OMAiHTASINF.
    OrthoDBiEOG744T9N.
    PhylomeDBiQ9NR46.
    TreeFamiTF313281.

    Family and domain databases

    Gene3Di1.20.1270.60. 2 hits.
    InterProiIPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR001452. SH3_domain.
    IPR028500. SH3GLB2.
    [Graphical view]
    PANTHERiPTHR10661:SF14. PTHR10661:SF14. 1 hit.
    PfamiPF03114. BAR. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view]
    SMARTiSM00721. BAR. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view]
    SUPFAMiSSF50044. SSF50044. 2 hits.
    PROSITEiPS51021. BAR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NR46-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDFNMKKLAS DAGIFFTRAV QFTEEKFGQA EKTELDAHFE NLLARADSTK    50
    NWTEKILRQT EVLLQPNPSA RVEEFLYEKL DRKVPSRVTN GELLAQYMAD 100
    AASELGPTTP YGKTLIKVAE AEKQLGAAER DFIHTASISF LTPLRNFLEG 150
    DWKTISKERR LLQNRRLDLD ACKARLKKAK AAEAKATTVP DFQETRPRNY 200
    ILSASASALW NDEVDKAEQE LRVAQTEFDR QAEVTRLLLE GISSTHVNHL 250
    RCLHEFVKSQ TTYYAQCYRH MLDLQKQLGR FPGTFVGTTE PASPPLSSTS 300
    PTTAAATMPV VPSVASLAPP GEASLCLEEV APPASGTRKA RVLYDYEAAD 350
    SSELALLADE LITVYSLPGM DPDWLIGERG NKKGKVPVTY LELLS 395
    Length:395
    Mass (Da):43,974
    Last modified:October 1, 2000 - v1
    Checksum:i5549631DB2EB7CAA
    GO
    Isoform 2 (identifier: Q9NR46-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         187-187: T → TCEGD
         280-280: R → SSQGAI

    Note: No experimental confirmation available.

    Show »
    Length:404
    Mass (Da):44,766
    Checksum:i830D75563D5896D3
    GO

    Sequence cautioni

    The sequence AAG23792.1 differs from that shown. Reason: Frameshift at positions 122 and 128.
    The sequence BAB47477.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti305 – 3051A → V.
    Corresponds to variant rs17455482 [ dbSNP | Ensembl ].
    VAR_053078
    Natural varianti319 – 3191P → L.
    Corresponds to variant rs17455475 [ dbSNP | Ensembl ].
    VAR_053079

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei187 – 1871T → TCEGD in isoform 2. 1 PublicationVSP_009278
    Alternative sequencei280 – 2801R → SSQGAI in isoform 2. 1 PublicationVSP_009279

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257319 mRNA. Translation: AAF81226.1.
    AB058751 mRNA. Translation: BAB47477.2. Different initiation.
    AF258589 mRNA. Translation: AAG23792.1. Frameshift.
    AL592211 Genomic DNA. Translation: CAI12365.1.
    AL592211 Genomic DNA. Translation: CAI12366.1.
    BC014635 mRNA. Translation: AAH14635.1.
    CCDSiCCDS6916.1. [Q9NR46-1]
    CCDS69680.1. [Q9NR46-2]
    RefSeqiNP_001273974.1. NM_001287045.1. [Q9NR46-2]
    NP_001273975.1. NM_001287046.1. [Q9NR46-1]
    NP_064530.1. NM_020145.3. [Q9NR46-1]
    XP_005252158.1. XM_005252101.2.
    UniGeneiHs.460238.

    Genome annotation databases

    EnsembliENST00000372554; ENSP00000361634; ENSG00000148341. [Q9NR46-2]
    ENST00000372559; ENSP00000361640; ENSG00000148341. [Q9NR46-1]
    ENST00000372564; ENSP00000361645; ENSG00000148341. [Q9NR46-1]
    GeneIDi56904.
    KEGGihsa:56904.
    UCSCiuc004bwv.3. human. [Q9NR46-1]
    uc004bww.3. human. [Q9NR46-2]

    Polymorphism databases

    DMDMi41018150.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF257319 mRNA. Translation: AAF81226.1 .
    AB058751 mRNA. Translation: BAB47477.2 . Different initiation.
    AF258589 mRNA. Translation: AAG23792.1 . Frameshift.
    AL592211 Genomic DNA. Translation: CAI12365.1 .
    AL592211 Genomic DNA. Translation: CAI12366.1 .
    BC014635 mRNA. Translation: AAH14635.1 .
    CCDSi CCDS6916.1. [Q9NR46-1 ]
    CCDS69680.1. [Q9NR46-2 ]
    RefSeqi NP_001273974.1. NM_001287045.1. [Q9NR46-2 ]
    NP_001273975.1. NM_001287046.1. [Q9NR46-1 ]
    NP_064530.1. NM_020145.3. [Q9NR46-1 ]
    XP_005252158.1. XM_005252101.2.
    UniGenei Hs.460238.

    3D structure databases

    ProteinModelPortali Q9NR46.
    SMRi Q9NR46. Positions 18-232, 334-395.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121234. 27 interactions.
    IntActi Q9NR46. 15 interactions.
    MINTi MINT-1458485.
    STRINGi 9606.ENSP00000361640.

    PTM databases

    PhosphoSitei Q9NR46.

    Polymorphism databases

    DMDMi 41018150.

    Proteomic databases

    MaxQBi Q9NR46.
    PaxDbi Q9NR46.
    PRIDEi Q9NR46.

    Protocols and materials databases

    DNASUi 56904.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372554 ; ENSP00000361634 ; ENSG00000148341 . [Q9NR46-2 ]
    ENST00000372559 ; ENSP00000361640 ; ENSG00000148341 . [Q9NR46-1 ]
    ENST00000372564 ; ENSP00000361645 ; ENSG00000148341 . [Q9NR46-1 ]
    GeneIDi 56904.
    KEGGi hsa:56904.
    UCSCi uc004bwv.3. human. [Q9NR46-1 ]
    uc004bww.3. human. [Q9NR46-2 ]

    Organism-specific databases

    CTDi 56904.
    GeneCardsi GC09M131769.
    H-InvDB HIX0008444.
    HGNCi HGNC:10834. SH3GLB2.
    HPAi HPA021438.
    HPA024734.
    MIMi 609288. gene.
    neXtProti NX_Q9NR46.
    PharmGKBi PA35740.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG309804.
    HOGENOMi HOG000232056.
    HOVERGENi HBG054448.
    KOi K11248.
    OMAi HTASINF.
    OrthoDBi EOG744T9N.
    PhylomeDBi Q9NR46.
    TreeFami TF313281.

    Miscellaneous databases

    GeneWikii SH3GLB2.
    GenomeRNAii 56904.
    NextBioi 62367.
    PROi Q9NR46.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NR46.
    Bgeei Q9NR46.
    CleanExi HS_SH3GLB2.
    Genevestigatori Q9NR46.

    Family and domain databases

    Gene3Di 1.20.1270.60. 2 hits.
    InterProi IPR027267. AH/BAR-dom.
    IPR004148. BAR_dom.
    IPR001452. SH3_domain.
    IPR028500. SH3GLB2.
    [Graphical view ]
    PANTHERi PTHR10661:SF14. PTHR10661:SF14. 1 hit.
    Pfami PF03114. BAR. 1 hit.
    PF14604. SH3_9. 1 hit.
    [Graphical view ]
    SMARTi SM00721. BAR. 1 hit.
    SM00326. SH3. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50044. SSF50044. 2 hits.
    PROSITEi PS51021. BAR. 1 hit.
    PS50002. SH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "SH3GLB, a new endophilin-related protein family featuring an SH3 domain."
      Pierrat B., Simonen M., Cueto M., Mestan J., Ferrigno P., Heim J.
      Genomics 71:222-234(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, HOMODIMERIZATION, INTERACTION WITH SH3GLB1.
      Tissue: Adipocyte and Skeletal muscle.
    2. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Lymph.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSHLB2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR46
    Secondary accession number(s): A6NC47
    , A8MPS4, Q8WY61, Q96JH9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 116 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 9
      Human chromosome 9: 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