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Q8N4B1

- SESQ1_HUMAN

UniProt

Q8N4B1 - SESQ1_HUMAN

Protein

Sesquipedalian-1

Gene

FAM109A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      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-1
    Short name:
    Ses1
    Alternative name(s):
    27 kDa inositol polyphosphate phosphatase-interacting protein A
    Short name:
    IPIP27A
    Gene namesi
    Name:FAM109A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:26509. FAM109A.

    Subcellular locationi

    Early endosome. Recycling endosome. Golgi apparatustrans-Golgi network. Cytoplasmic vesicleclathrin-coated vesicle
    Note: Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. 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. Drastically reduces membrane targeting. 2 Publications
    Mutagenesisi228 – 2281H → A: Loss of OCRL-binding. 2 Publications
    Mutagenesisi234 – 2352EI → AA: Loss of OCRL-binding.

    Organism-specific databases

    PharmGKBiPA143485466.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 249249Sesquipedalian-1PRO_0000254572Add
    BLAST

    Proteomic databases

    MaxQBiQ8N4B1.
    PaxDbiQ8N4B1.
    PRIDEiQ8N4B1.

    PTM databases

    PhosphoSiteiQ8N4B1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N4B1.
    BgeeiQ8N4B1.
    CleanExiHS_FAM109A.
    GenevestigatoriQ8N4B1.

    Interactioni

    Subunit structurei

    Forms homodimers and heterodimers with FAM109B. Interacts with OCRL and INPP5B.3 Publications

    Protein-protein interaction databases

    BioGridi126873. 3 interactions.
    IntActiQ8N4B1. 1 interaction.
    MINTiMINT-6778621.
    STRINGi9606.ENSP00000354461.

    Structurei

    Secondary structure

    1
    249
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi224 – 2318
    Turni232 – 2343

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3QISX-ray2.30B223-235[»]
    ProteinModelPortaliQ8N4B1.
    SMRiQ8N4B1. Positions 19-112.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini17 – 11397PHPROSITE-ProRule annotationAdd
    BLAST

    Motif

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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi139 – 22385Pro-richAdd
    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.1 Publication

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG117159.
    HOVERGENiHBG061708.
    OMAiTRARTYV.
    OrthoDBiEOG7966HQ.
    PhylomeDBiQ8N4B1.
    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]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N4B1-1) [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

    MKLNERSLAF YATCDAPVDN AGFLYKKGGR HAAYHRRWFV LRGNMLFYFE    50
    DAASREPVGV IILEGCTVEL VEAAEEFAFA VRFAGTRART YVLAAESQDA 100
    MEGWVKALSR ASFDYLRLVV RELEQQLAAV RGGGGMALPQ PQPQSLPLPP 150
    SLPSALAPVP SLPSAPAPVP ALPLPRRPSA LPPKENGCAV WSTEATFRPG 200
    PEPPPPPPRR RASAPHGPLD MAPFARLHEC YGQEIRALRG QWLSSRVQP 249
    Length:249
    Mass (Da):27,215
    Last modified:October 1, 2002 - v1
    Checksum:i73410C946DA6113A
    GO
    Isoform 2 (identifier: Q8N4B1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-123: Missing.
         124-138: EQQLAAVRGGGGMAL → MQKQRPREMNSLPGV

    Note: No experimental confirmation available.

    Show »
    Length:126
    Mass (Da):13,610
    Checksum:i8AAF24512D83EDF9
    GO
    Isoform 3 (identifier: Q8N4B1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         64-88: EGCTVELVEAAEEFAFAVRFAGTRA → VAVALWPRALSVSPWWLSQGSPDTP
         89-249: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:88
    Mass (Da):9,957
    Checksum:iA855A284B01643EF
    GO
    Isoform 4 (identifier: Q8N4B1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MAPGSPPGPAIATM

    Note: No experimental confirmation available.

    Show »
    Length:262
    Mass (Da):28,364
    Checksum:i5886034B521FFCA4
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 123123Missing in isoform 2. 1 PublicationVSP_021239Add
    BLAST
    Alternative sequencei1 – 11M → MAPGSPPGPAIATM in isoform 4. 1 PublicationVSP_044836
    Alternative sequencei64 – 8825EGCTV…AGTRA → VAVALWPRALSVSPWWLSQG SPDTP in isoform 3. 1 PublicationVSP_021241Add
    BLAST
    Alternative sequencei89 – 249161Missing in isoform 3. 1 PublicationVSP_021242Add
    BLAST
    Alternative sequencei124 – 13815EQQLA…GGMAL → MQKQRPREMNSLPGV in isoform 2. 1 PublicationVSP_021240Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056918 mRNA. Translation: BAB71310.1.
    AC005805 Genomic DNA. No translation available.
    BC014091 mRNA. Translation: AAH14091.1.
    BC034809 mRNA. Translation: AAH34809.1.
    CX758147 mRNA. No translation available.
    CCDSiCCDS53833.1. [Q8N4B1-4]
    CCDS9152.1. [Q8N4B1-1]
    RefSeqiNP_001171467.1. NM_001177996.1. [Q8N4B1-4]
    NP_001171468.1. NM_001177997.1. [Q8N4B1-1]
    NP_653272.2. NM_144671.4. [Q8N4B1-1]
    XP_006719320.1. XM_006719257.1. [Q8N4B1-1]
    UniGeneiHs.173088.

    Genome annotation databases

    EnsembliENST00000361483; ENSP00000354461; ENSG00000198324. [Q8N4B1-4]
    ENST00000547838; ENSP00000447353; ENSG00000198324. [Q8N4B1-1]
    ENST00000548163; ENSP00000449994; ENSG00000198324. [Q8N4B1-1]
    GeneIDi144717.
    KEGGihsa:144717.
    UCSCiuc001tsd.4. human. [Q8N4B1-1]

    Polymorphism databases

    DMDMi74728832.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056918 mRNA. Translation: BAB71310.1 .
    AC005805 Genomic DNA. No translation available.
    BC014091 mRNA. Translation: AAH14091.1 .
    BC034809 mRNA. Translation: AAH34809.1 .
    CX758147 mRNA. No translation available.
    CCDSi CCDS53833.1. [Q8N4B1-4 ]
    CCDS9152.1. [Q8N4B1-1 ]
    RefSeqi NP_001171467.1. NM_001177996.1. [Q8N4B1-4 ]
    NP_001171468.1. NM_001177997.1. [Q8N4B1-1 ]
    NP_653272.2. NM_144671.4. [Q8N4B1-1 ]
    XP_006719320.1. XM_006719257.1. [Q8N4B1-1 ]
    UniGenei Hs.173088.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3QIS X-ray 2.30 B 223-235 [» ]
    ProteinModelPortali Q8N4B1.
    SMRi Q8N4B1. Positions 19-112.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126873. 3 interactions.
    IntActi Q8N4B1. 1 interaction.
    MINTi MINT-6778621.
    STRINGi 9606.ENSP00000354461.

    PTM databases

    PhosphoSitei Q8N4B1.

    Polymorphism databases

    DMDMi 74728832.

    Proteomic databases

    MaxQBi Q8N4B1.
    PaxDbi Q8N4B1.
    PRIDEi Q8N4B1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000361483 ; ENSP00000354461 ; ENSG00000198324 . [Q8N4B1-4 ]
    ENST00000547838 ; ENSP00000447353 ; ENSG00000198324 . [Q8N4B1-1 ]
    ENST00000548163 ; ENSP00000449994 ; ENSG00000198324 . [Q8N4B1-1 ]
    GeneIDi 144717.
    KEGGi hsa:144717.
    UCSCi uc001tsd.4. human. [Q8N4B1-1 ]

    Organism-specific databases

    CTDi 144717.
    GeneCardsi GC12M111798.
    H-InvDB HIX0010998.
    HGNCi HGNC:26509. FAM109A.
    neXtProti NX_Q8N4B1.
    PharmGKBi PA143485466.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG117159.
    HOVERGENi HBG061708.
    OMAi TRARTYV.
    OrthoDBi EOG7966HQ.
    PhylomeDBi Q8N4B1.
    TreeFami TF326731.

    Miscellaneous databases

    GenomeRNAii 144717.
    NextBioi 35535063.
    PROi Q8N4B1.

    Gene expression databases

    ArrayExpressi Q8N4B1.
    Bgeei Q8N4B1.
    CleanExi HS_FAM109A.
    Genevestigatori Q8N4B1.

    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. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Prostate.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-80 (ISOFORM 4).
      Tissue: Brain.
    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 AND INPP5B, SUBCELLULAR LOCATION, F&H MOTIF, MUTAGENESIS OF PHE-224 AND HIS-228.
    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.
    6. "Recognition of the F&H motif by the Lowe syndrome protein OCRL."
      Pirruccello M., Swan L.E., Folta-Stogniew E., De Camilli P.
      Nat. Struct. Mol. Biol. 18:789-795(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 223-235 IN COMPLEX WITH OCRL, F&H MOTIF.

    Entry informationi

    Entry nameiSESQ1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N4B1
    Secondary accession number(s): J3KP50, Q6PJL9, Q96MH8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 87 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3