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Q6ULP2

- AFTIN_HUMAN

UniProt

Q6ULP2 - AFTIN_HUMAN

Protein

Aftiphilin

Gene

AFTPH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 2 (29 Mar 2005)
      Previous versions | rss
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    Functioni

    May play a role in membrane trafficking.

    GO - Molecular functioni

    1. clathrin binding Source: UniProtKB

    GO - Biological processi

    1. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aftiphilin
    Gene namesi
    Name:AFTPH
    Synonyms:AFTH
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25951. AFTPH.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Colocalizes with AP1G1 and clathrin.

    GO - Cellular componenti

    1. AP-1 adaptor complex Source: UniProtKB
    2. cytosol Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145149871.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 937937AftiphilinPRO_0000064488Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei151 – 1511Phosphoserine1 Publication
    Modified residuei395 – 3951PhosphoserineBy similarity
    Modified residuei617 – 6171Phosphothreonine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6ULP2.
    PaxDbiQ6ULP2.
    PRIDEiQ6ULP2.

    PTM databases

    PhosphoSiteiQ6ULP2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ULP2.
    BgeeiQ6ULP2.
    CleanExiHS_AFTPH.
    GenevestigatoriQ6ULP2.

    Organism-specific databases

    HPAiHPA034991.

    Interactioni

    Subunit structurei

    Interacts with GGA1, GGA3, AP1G1 and AP1G2 via their GAE domain.1 Publication

    Protein-protein interaction databases

    BioGridi120169. 5 interactions.
    IntActiQ6ULP2. 5 interactions.
    MINTiMINT-5005262.
    STRINGi9606.ENSP00000238855.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ULP2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni825 – 8295Clathrin-bindingSequence Analysis

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi28 – 314WXXF motif 1
    Motifi432 – 4354WXXF motif 2
    Motifi436 – 4383WXXF motif 3 (partial)
    Motifi478 – 4814WXXF motif 4

    Domaini

    The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself By similarity.By similarity

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG40359.
    HOVERGENiHBG050464.
    InParanoidiQ6ULP2.
    OMAiETVNPQG.
    OrthoDBiEOG779NX4.
    PhylomeDBiQ6ULP2.
    TreeFamiTF331532.

    Family and domain databases

    InterProiIPR029205. Clathrin-bd.
    [Graphical view]
    PfamiPF15045. Clathrin_bdg. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ULP2-1) [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

    MEPDIIRMYS SSPPPLDNGA EDDDDDEFGE FGGFSEVSPS GVGFVDFDTP    50
    DYTRPKEEFV PSNHFMPIHE FSENVDSLTS FKSIKNGNDK DITAELSAPV 100
    KGQSDVLLST TSKEIISSEM LATSIDGMER PGNLNKVVEQ RQNVGTLESF 150
    SPGDFRTNMN VVHQNKQLES CNGEKPPCLE ILTNGFAVLE TVNPQGTDDL 200
    DNVADSKGRK PLSTHSTEYN LDSVPSPAEE FADFATFSKK ERIQLEEIEC 250
    AVLNDREALT IRENNKINRV NELNSVKEVA LGRSLDNKGD TDGEDQVCVS 300
    EISIVTNRGF SVEKQGLPTL QQDEFLQSGV QSKAWSLVDS ADNSEAIRRE 350
    QCKTEEKLDL LTSKCAHLCM DSVKTSDDEV GSPKEESRKF TNFQSPNIDP 400
    TEENDLDDSL SVKNGDSSND FVTCNDINED DFGDFGDFGS ASGSTPPFVT 450
    GTQDSMSDAT FEESSEHFPH FSEPGDDFGE FGDINAVSCQ EETILTKSDL 500
    KQTSDNLSEE CQLARKSSGT GTEPVAKLKN GQEGEIGHFD SVPNIQDDCN 550
    GFQDSDDFAD FSSAGPSQVV DWNAFEDEQK DSCSWAAFGD QQATESHHRK 600
    EAWQSHRTDE NIDTPGTPKT HSVPSATSKG AVASGHLQES ATSVQTALLN 650
    RLERIFEACF PSILVPDAEE EVTSLKHLLE TSTLPIKTRE ALPESGELLD 700
    VWTELQDIHD AHGLRYQWGG SHSNKKLLSS LGIDTRNILF TGNKKQPVIV 750
    PMYAAGLGML EPTKEPLKPL SAAEKIASIG QTATMSPDMN TCTSDQFQES 800
    LPPVQFDWSS SGLTNPLDAS GGSTLLNLDF FGPVDDSSSS SSTTIPGVDP 850
    ELYELTTSKL EISTSSLKVT DAFARLMSTV EKTSTSTSRK PKREEHLSEE 900
    AIKVIAGLPD LTFMHAKVLM FPATLTPSTS SQEKADG 937
    Length:937
    Mass (Da):102,200
    Last modified:March 29, 2005 - v2
    Checksum:iCC9CF52CE10F2C36
    GO
    Isoform 2 (identifier: Q6ULP2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         819-846: Missing.

    Show »
    Length:909
    Mass (Da):99,458
    Checksum:iB931F39110FDBB8E
    GO
    Isoform 3 (identifier: Q6ULP2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         819-820: AS → GT
         821-937: Missing.

    Note: May be due to intron retention. No experimental confirmation available.

    Show »
    Length:820
    Mass (Da):89,720
    Checksum:i35A9CF525DDF54AF
    GO
    Isoform 4 (identifier: Q6ULP2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         888-888: Missing.

    Show »
    Length:936
    Mass (Da):102,113
    Checksum:i7F84B4D6890BCDF7
    GO
    Isoform 5 (identifier: Q6ULP2-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         819-846: Missing.
         888-888: Missing.

    Show »
    Length:908
    Mass (Da):99,371
    Checksum:i028209277B9C75A4
    GO

    Sequence cautioni

    The sequence AAH22247.1 differs from that shown. Reason: Frameshift at position 919.
    The sequence BAB13930.1 differs from that shown. Reason: Erroneous initiation.
    The sequence BAB14949.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti734 – 7341D → G in BAB13930. (PubMed:14702039)Curated
    Sequence conflicti850 – 8501P → L in AAR14726. (PubMed:14665628)Curated
    Sequence conflicti895 – 8951E → G in AAH22247. (PubMed:15489334)Curated
    Sequence conflicti905 – 9051I → V in AAH47529. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti233 – 2331D → G.
    Corresponds to variant rs35986567 [ dbSNP | Ensembl ].
    VAR_056728
    Natural varianti301 – 3011E → K.
    Corresponds to variant rs3770740 [ dbSNP | Ensembl ].
    VAR_056729
    Natural varianti550 – 5501N → S.
    Corresponds to variant rs3770739 [ dbSNP | Ensembl ].
    VAR_056730

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei819 – 84628Missing in isoform 2 and isoform 5. 2 PublicationsVSP_013238Add
    BLAST
    Alternative sequencei819 – 8202AS → GT in isoform 3. 1 PublicationVSP_013239
    Alternative sequencei821 – 937117Missing in isoform 3. 1 PublicationVSP_013240Add
    BLAST
    Alternative sequencei888 – 8881Missing in isoform 4 and isoform 5. 2 PublicationsVSP_013241

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY367088 mRNA. Translation: AAR14726.1.
    AK000087 mRNA. Translation: BAA90936.1.
    AK021899 mRNA. Translation: BAB13930.1. Different initiation.
    AK024658 mRNA. Translation: BAB14949.1. Different initiation.
    AL833962 mRNA. Translation: CAE46209.1.
    CH471053 Genomic DNA. Translation: EAW99938.1.
    CH471053 Genomic DNA. Translation: EAW99941.1.
    BC022247 mRNA. Translation: AAH22247.1. Sequence problems.
    BC047529 mRNA. Translation: AAH47529.1.
    CCDSiCCDS1878.1. [Q6ULP2-2]
    CCDS46303.1. [Q6ULP2-4]
    RefSeqiNP_001002243.1. NM_001002243.2. [Q6ULP2-5]
    NP_060127.3. NM_017657.4. [Q6ULP2-2]
    NP_982261.2. NM_203437.3. [Q6ULP2-4]
    XP_005264437.1. XM_005264380.1. [Q6ULP2-1]
    UniGeneiHs.655167.

    Genome annotation databases

    EnsembliENST00000238855; ENSP00000238855; ENSG00000119844. [Q6ULP2-4]
    ENST00000238856; ENSP00000238856; ENSG00000119844. [Q6ULP2-2]
    ENST00000409933; ENSP00000387071; ENSG00000119844. [Q6ULP2-4]
    ENST00000422803; ENSP00000397726; ENSG00000119844. [Q6ULP2-1]
    GeneIDi54812.
    KEGGihsa:54812.
    UCSCiuc002scz.3. human. [Q6ULP2-4]
    uc002sda.3. human. [Q6ULP2-5]
    uc002sdb.3. human. [Q6ULP2-2]
    uc002sdc.3. human. [Q6ULP2-1]

    Polymorphism databases

    DMDMi62286617.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY367088 mRNA. Translation: AAR14726.1 .
    AK000087 mRNA. Translation: BAA90936.1 .
    AK021899 mRNA. Translation: BAB13930.1 . Different initiation.
    AK024658 mRNA. Translation: BAB14949.1 . Different initiation.
    AL833962 mRNA. Translation: CAE46209.1 .
    CH471053 Genomic DNA. Translation: EAW99938.1 .
    CH471053 Genomic DNA. Translation: EAW99941.1 .
    BC022247 mRNA. Translation: AAH22247.1 . Sequence problems.
    BC047529 mRNA. Translation: AAH47529.1 .
    CCDSi CCDS1878.1. [Q6ULP2-2 ]
    CCDS46303.1. [Q6ULP2-4 ]
    RefSeqi NP_001002243.1. NM_001002243.2. [Q6ULP2-5 ]
    NP_060127.3. NM_017657.4. [Q6ULP2-2 ]
    NP_982261.2. NM_203437.3. [Q6ULP2-4 ]
    XP_005264437.1. XM_005264380.1. [Q6ULP2-1 ]
    UniGenei Hs.655167.

    3D structure databases

    ProteinModelPortali Q6ULP2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120169. 5 interactions.
    IntActi Q6ULP2. 5 interactions.
    MINTi MINT-5005262.
    STRINGi 9606.ENSP00000238855.

    PTM databases

    PhosphoSitei Q6ULP2.

    Polymorphism databases

    DMDMi 62286617.

    Proteomic databases

    MaxQBi Q6ULP2.
    PaxDbi Q6ULP2.
    PRIDEi Q6ULP2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000238855 ; ENSP00000238855 ; ENSG00000119844 . [Q6ULP2-4 ]
    ENST00000238856 ; ENSP00000238856 ; ENSG00000119844 . [Q6ULP2-2 ]
    ENST00000409933 ; ENSP00000387071 ; ENSG00000119844 . [Q6ULP2-4 ]
    ENST00000422803 ; ENSP00000397726 ; ENSG00000119844 . [Q6ULP2-1 ]
    GeneIDi 54812.
    KEGGi hsa:54812.
    UCSCi uc002scz.3. human. [Q6ULP2-4 ]
    uc002sda.3. human. [Q6ULP2-5 ]
    uc002sdb.3. human. [Q6ULP2-2 ]
    uc002sdc.3. human. [Q6ULP2-1 ]

    Organism-specific databases

    CTDi 54812.
    GeneCardsi GC02P064751.
    HGNCi HGNC:25951. AFTPH.
    HPAi HPA034991.
    neXtProti NX_Q6ULP2.
    PharmGKBi PA145149871.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40359.
    HOVERGENi HBG050464.
    InParanoidi Q6ULP2.
    OMAi ETVNPQG.
    OrthoDBi EOG779NX4.
    PhylomeDBi Q6ULP2.
    TreeFami TF331532.

    Miscellaneous databases

    ChiTaRSi AFTPH. human.
    GeneWikii AFTPH.
    GenomeRNAii 54812.
    NextBioi 57537.
    PROi Q6ULP2.

    Gene expression databases

    ArrayExpressi Q6ULP2.
    Bgeei Q6ULP2.
    CleanExi HS_AFTPH.
    Genevestigatori Q6ULP2.

    Family and domain databases

    InterProi IPR029205. Clathrin-bd.
    [Graphical view ]
    Pfami PF15045. Clathrin_bdg. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Definition of the consensus motif recognized by gamma-adaptin ear domains."
      Mattera R., Ritter B., Sidhu S.S., McPherson P.S., Bonifacino J.S.
      J. Biol. Chem. 279:8018-8028(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), SUBCELLULAR LOCATION, INTERACTION WITH GGA1; GGA3; AP1G1 AND AP1G2.
      Tissue: Brain.
    2. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 347-937 (ISOFORM 1).
      Tissue: Colon and Embryo.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Amygdala.
    4. 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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 724-937 (ISOFORM 5).
      Tissue: Brain and Lung.
    6. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-617, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-151, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAFTIN_HUMAN
    AccessioniPrimary (citable) accession number: Q6ULP2
    Secondary accession number(s): D6W5E9
    , Q6ZM66, Q86VW3, Q8TCF3, Q9H7E3, Q9HAB9, Q9NXS4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2005
    Last sequence update: March 29, 2005
    Last modified: October 1, 2014
    This is version 90 of the entry and version 2 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 2
      Human chromosome 2: 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

    External Data

    Dasty 3