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Q6ICB4

- SESQ2_HUMAN

UniProt

Q6ICB4 - SESQ2_HUMAN

Protein

Sesquipedalian-2

Gene

FAM109B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 81 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. endosome organization Source: UniProtKB
    2. receptor recycling Source: UniProtKB
    3. retrograde transport, endosome to Golgi Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sesquipedalian-2
    Short name:
    Ses2
    Alternative name(s):
    27 kDa inositol polyphosphate phosphatase interacting protein B
    Short name:
    IPIP27B
    Gene namesi
    Name:FAM109B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:27161. FAM109B.

    Subcellular locationi

    Early endosome. Recycling endosome. Golgi apparatustrans-Golgi network. Cytoplasmic vesicleclathrin-coated vesicle
    Note: Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes.

    GO - Cellular componenti

    1. clathrin-coated vesicle Source: UniProtKB
    2. early endosome Source: UniProtKB
    3. recycling endosome Source: UniProtKB
    4. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Endosome, Golgi apparatus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi224 – 2241F → A: Loss of OCRL-binding. 1 Publication
    Mutagenesisi228 – 2281H → A: Loss of OCRL-binding. 1 Publication
    Mutagenesisi234 – 2352EI → AA: Loss of OCRL-binding.

    Organism-specific databases

    PharmGKBiPA143485467.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 259259Sesquipedalian-2PRO_0000254133Add
    BLAST

    Proteomic databases

    PaxDbiQ6ICB4.
    PRIDEiQ6ICB4.

    PTM databases

    PhosphoSiteiQ6ICB4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ICB4.
    BgeeiQ6ICB4.
    CleanExiHS_FAM109B.
    GenevestigatoriQ6ICB4.

    Organism-specific databases

    HPAiHPA000647.

    Interactioni

    Subunit structurei

    Forms homodimers and heterodimers with FAM109A. Interacts with OCRL and INPP5B.2 Publications

    Protein-protein interaction databases

    BioGridi127287. 1 interaction.
    STRINGi9606.ENSP00000312753.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ICB4.
    SMRiQ6ICB4. Positions 39-120.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini17 – 121105PHPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili124 – 14926Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi223 – 23513F&HAdd
    BLAST

    Domaini

    The F&H motif, an approximately 12-13 amino-acid sequence centered around Phe and His residues, is essential for binding to OCRL and INPP5B.

    Sequence similaritiesi

    Belongs to the sesquipedalian family.Curated
    Contains 1 PH domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG117159.
    HOVERGENiHBG061708.
    InParanoidiQ6ICB4.
    OMAiLRTWGGP.
    OrthoDBiEOG7966HQ.
    PhylomeDBiQ6ICB4.
    TreeFamiTF326731.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    InterProiIPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view]
    PfamiPF00169. PH. 1 hit.
    [Graphical view]
    SMARTiSM00233. PH. 1 hit.
    [Graphical view]
    PROSITEiPS50003. PH_DOMAIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6ICB4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MKLNERSVAH YALSDSPADH MGFLRTWGGP GTPPTPSGTG RRCWFVLKGN    50
    LLFSFESREG RAPLSLVVLE GCTVELAEAP VPEEFAFAIC FDAPGVRPHL 100
    LAAEGPAAQE AWVKVLSRAS FGYMRLVVRE LESQLQDARQ SLALQRRSSW 150
    KSVASRCKPQ APNHRAAGLE NGHCLSKDSS PVGLVEEAGS RSAGWGLAEW 200
    ELQGPASLLL GKGQSPVSPE TSCFSTLHDW YGQEIVELRQ CWQKRAQGSH 250
    SKCEEQDRP 259
    Length:259
    Mass (Da):28,338
    Last modified:July 5, 2004 - v1
    Checksum:iF82FDD0D2314BB0F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti188 – 1881A → G.1 Publication
    Corresponds to variant rs1807493 [ dbSNP | Ensembl ].
    VAR_028822

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR456454 mRNA. Translation: CAG30340.1.
    Z99716, Z82192 Genomic DNA. Translation: CAI41696.1.
    Z82192, Z99716 Genomic DNA. Translation: CAI19712.1.
    BC029776 mRNA. Translation: AAH29776.1.
    BC104175 mRNA. Translation: AAI04176.1.
    BC104176 mRNA. Translation: AAI04177.1.
    CCDSiCCDS33655.1.
    RefSeqiNP_001002034.2. NM_001002034.2.
    XP_005261430.1. XM_005261373.1.
    UniGeneiHs.368312.

    Genome annotation databases

    EnsembliENST00000321753; ENSP00000312753; ENSG00000177096.
    GeneIDi150368.
    KEGGihsa:150368.
    UCSCiuc003bbz.3. human.

    Polymorphism databases

    DMDMi74757717.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    CR456454 mRNA. Translation: CAG30340.1 .
    Z99716 , Z82192 Genomic DNA. Translation: CAI41696.1 .
    Z82192 , Z99716 Genomic DNA. Translation: CAI19712.1 .
    BC029776 mRNA. Translation: AAH29776.1 .
    BC104175 mRNA. Translation: AAI04176.1 .
    BC104176 mRNA. Translation: AAI04177.1 .
    CCDSi CCDS33655.1.
    RefSeqi NP_001002034.2. NM_001002034.2.
    XP_005261430.1. XM_005261373.1.
    UniGenei Hs.368312.

    3D structure databases

    ProteinModelPortali Q6ICB4.
    SMRi Q6ICB4. Positions 39-120.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127287. 1 interaction.
    STRINGi 9606.ENSP00000312753.

    PTM databases

    PhosphoSitei Q6ICB4.

    Polymorphism databases

    DMDMi 74757717.

    Proteomic databases

    PaxDbi Q6ICB4.
    PRIDEi Q6ICB4.

    Protocols and materials databases

    DNASUi 150368.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321753 ; ENSP00000312753 ; ENSG00000177096 .
    GeneIDi 150368.
    KEGGi hsa:150368.
    UCSCi uc003bbz.3. human.

    Organism-specific databases

    CTDi 150368.
    GeneCardsi GC22P042470.
    HGNCi HGNC:27161. FAM109B.
    HPAi HPA000647.
    neXtProti NX_Q6ICB4.
    PharmGKBi PA143485467.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG117159.
    HOVERGENi HBG061708.
    InParanoidi Q6ICB4.
    OMAi LRTWGGP.
    OrthoDBi EOG7966HQ.
    PhylomeDBi Q6ICB4.
    TreeFami TF326731.

    Miscellaneous databases

    GenomeRNAii 150368.
    NextBioi 86424.
    PROi Q6ICB4.

    Gene expression databases

    ArrayExpressi Q6ICB4.
    Bgeei Q6ICB4.
    CleanExi HS_FAM109B.
    Genevestigatori Q6ICB4.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    InterProi IPR001849. PH_domain.
    IPR011993. PH_like_dom.
    [Graphical view ]
    Pfami PF00169. PH. 1 hit.
    [Graphical view ]
    SMARTi SM00233. PH. 1 hit.
    [Graphical view ]
    PROSITEi PS50003. PH_DOMAIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    2. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [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], VARIANT GLY-188.
      Tissue: Colon.
    4. "Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1."
      Swan L.E., Tomasini L., Pirruccello M., Lunardi J., De Camilli P.
      Proc. Natl. Acad. Sci. U.S.A. 107:3511-3516(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH OCRL, F&H MOTIF, SUBCELLULAR LOCATION.
    5. "The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway."
      Noakes C.J., Lee G., Lowe M.
      Mol. Biol. Cell 22:606-623(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH OCRL AND INPP5B, SUBUNIT, SUBCELLULAR LOCATION, MUTAGENESIS OF PHE-224; HIS-228 AND 234-GLU-ILE-235.

    Entry informationi

    Entry nameiSESQ2_HUMAN
    AccessioniPrimary (citable) accession number: Q6ICB4
    Secondary accession number(s): Q3SXQ3, Q8N6L9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 81 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

    Miscellaneous

    Was named after 'sesquipedalian', an unnecessarily long description of a simple thing.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3