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O43299

- AP5Z1_HUMAN

UniProt

O43299 - AP5Z1_HUMAN

Protein

AP-5 complex subunit zeta-1

Gene

AP5Z1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 2 (28 Nov 2006)
      Previous versions | rss
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    Functioni

    As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. double-strand break repair via homologous recombination Source: UniProtKB
    3. endosomal transport Source: UniProtKB
    4. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    DNA damage, DNA repair, Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AP-5 complex subunit zeta-1
    Alternative name(s):
    Adaptor-related protein complex 5 zeta subunit
    Short name:
    Zeta5
    Gene namesi
    Name:AP5Z1
    Synonyms:KIAA0415, SPG48
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22197. AP5Z1.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication
    Note: By SDS-PAGE, 2 isoforms have been observed, the shorter seems to be predominantly nuclear and the longer is mostly cytoplasmic.1 Publication

    GO - Cellular componenti

    1. AP-5 adaptor complex Source: InterPro
    2. AP-type membrane coat adaptor complex Source: UniProtKB
    3. cytoplasm Source: UniProtKB
    4. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 48, autosomal recessive (SPG48) [MIM:613647]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi613647. phenotype.
    Orphaneti306511. Autosomal recessive spastic paraplegia type 48.
    PharmGKBiPA162392841.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 807807AP-5 complex subunit zeta-1PRO_0000261357Add
    BLAST

    Proteomic databases

    MaxQBiO43299.
    PaxDbiO43299.
    PRIDEiO43299.

    PTM databases

    PhosphoSiteiO43299.

    Expressioni

    Gene expression databases

    ArrayExpressiO43299.
    BgeeiO43299.
    CleanExiHS_KIAA0415.
    GenevestigatoriO43299.

    Organism-specific databases

    HPAiHPA035693.

    Interactioni

    Subunit structurei

    Probably part of the adaptor protein complex 5 (AP-5) a tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with ZFYVE26 and SPG11.1 Publication

    Protein-protein interaction databases

    BioGridi115236. 3 interactions.
    IntActiO43299. 2 interactions.
    MINTiMINT-1452394.
    STRINGi9606.ENSP00000297562.

    Structurei

    3D structure databases

    ProteinModelPortaliO43299.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi579 – 5846Poly-Leu

    Phylogenomic databases

    eggNOGiNOG26605.
    HOGENOMiHOG000113147.
    HOVERGENiHBG061547.
    InParanoidiO43299.
    OMAiAQFFLNH.
    OrthoDBiEOG70087D.
    PhylomeDBiO43299.
    TreeFamiTF331050.

    Family and domain databases

    InterProiIPR028222. AP5Z1.
    [Graphical view]
    PfamiPF14764. SPG48. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: O43299-1) [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

    MFSAGAESLL HQAREIQDEE LKKFCSRICK LLQAEDLGPD TLDSLQRLFL    50
    IISATKYSRR LEKTCVDLLQ ATLGLPACPE QLQVLCAAIL REMSPSDSLS 100
    LAWDHTQNSR QLSLVASVLL AQGDRNEEVR AVGQGVLRAL ESRQPEGPSL 150
    RHLLPVMAKV VVLSPGTLQE DQATLLSKRL VDWLRYASLQ QGLPHSGGFF 200
    STPRARQPGP VTEVDGAVAT DFFTVLSSGH RFTDDQWLNV QAFSMLRAWL 250
    LHSGPEGPGT LDTDDRSEQE GSTLSVISAT SSAGRLLPPR ERLREVAFEY 300
    CQRLIEQSNR RALRKGDSDL QKACLVEAVL VLDVLCRQDP SFLYRSLSCL 350
    KALHGRVRGD PASVRVLLPL AHFFLSHGEA AAVDSEAVYQ HLFTRIPVEQ 400
    FHSPMLAFEF IQFCRDNLHL FSGHLSTLRL SFPNLFKFLA WNSPPLTSEF 450
    VALLPALVDA GTALEMLHAL LDLPCLTAVL DLQLRSAPAA SERPLWDTSL 500
    RAPSCLEAFR DPQFQGLFQY LLRPKASGAT ERLAPLHQLL QPMAGCARVA 550
    QCAQAVPTLL QAFFSAVTQV ADGSLINQLA LLLLGRSDSL YPAPGYAAGV 600
    HSVLSSQFLA LCTLKPSLVV ELARDLLEFL GSVNGLCSRA SLVTSVVWAI 650
    GEYLSVTYDR RCTVEQINKF FEALEALLFE VTQCRPSAAL PRCPPQVVTV 700
    LMTTLTKLAS RSQDLIPRAS LLLSKMRTLA HSPATSSTHS EEGAEAIRTR 750
    ATELLTLLKM PSVAQFVLTP STEVCSPRYH RDANTALPLA LRTVSRLVER 800
    EAGLMPG 807
    Length:807
    Mass (Da):88,605
    Last modified:November 28, 2006 - v2
    Checksum:iAD02B2664838B739
    GO
    Isoform 2 (identifier: O43299-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         602-625: SVLSSQFLALCTLKPSLVVELARD → RPDACRPILVPL
         626-807: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:613
    Mass (Da):67,454
    Checksum:i05CA8723DAE26D36
    GO
    Isoform 3 (identifier: O43299-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-156: Missing.
         602-602: S → R
         603-807: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:446
    Mass (Da):49,020
    Checksum:i4B48C08285BAE35D
    GO

    Sequence cautioni

    The sequence BAA24845.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941S → C.
    Corresponds to variant rs11549839 [ dbSNP | Ensembl ].
    VAR_049511

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 156156Missing in isoform 3. 1 PublicationVSP_021672Add
    BLAST
    Alternative sequencei602 – 62524SVLSS…ELARD → RPDACRPILVPL in isoform 2. 1 PublicationVSP_021673Add
    BLAST
    Alternative sequencei602 – 6021S → R in isoform 3. 1 PublicationVSP_021674
    Alternative sequencei603 – 807205Missing in isoform 3. 1 PublicationVSP_021675Add
    BLAST
    Alternative sequencei626 – 807182Missing in isoform 2. 1 PublicationVSP_021676Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC092610 Genomic DNA. No translation available.
    AB007875 mRNA. Translation: BAA24845.1. Different initiation.
    BC008841 mRNA. Translation: AAH08841.2.
    BC037399 mRNA. Translation: AAH37399.1.
    CCDSiCCDS47528.1. [O43299-1]
    PIRiT00054.
    RefSeqiNP_055670.1. NM_014855.2. [O43299-1]
    UniGeneiHs.558440.

    Genome annotation databases

    EnsembliENST00000348624; ENSP00000297562; ENSG00000242802. [O43299-1]
    ENST00000401897; ENSP00000384980; ENSG00000242802. [O43299-2]
    GeneIDi9907.
    KEGGihsa:9907.
    UCSCiuc003sne.3. human. [O43299-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC092610 Genomic DNA. No translation available.
    AB007875 mRNA. Translation: BAA24845.1 . Different initiation.
    BC008841 mRNA. Translation: AAH08841.2 .
    BC037399 mRNA. Translation: AAH37399.1 .
    CCDSi CCDS47528.1. [O43299-1 ]
    PIRi T00054.
    RefSeqi NP_055670.1. NM_014855.2. [O43299-1 ]
    UniGenei Hs.558440.

    3D structure databases

    ProteinModelPortali O43299.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115236. 3 interactions.
    IntActi O43299. 2 interactions.
    MINTi MINT-1452394.
    STRINGi 9606.ENSP00000297562.

    PTM databases

    PhosphoSitei O43299.

    Proteomic databases

    MaxQBi O43299.
    PaxDbi O43299.
    PRIDEi O43299.

    Protocols and materials databases

    DNASUi 9907.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000348624 ; ENSP00000297562 ; ENSG00000242802 . [O43299-1 ]
    ENST00000401897 ; ENSP00000384980 ; ENSG00000242802 . [O43299-2 ]
    GeneIDi 9907.
    KEGGi hsa:9907.
    UCSCi uc003sne.3. human. [O43299-1 ]

    Organism-specific databases

    CTDi 9907.
    GeneCardsi GC07P004816.
    HGNCi HGNC:22197. AP5Z1.
    HPAi HPA035693.
    MIMi 613647. phenotype.
    613653. gene.
    neXtProti NX_O43299.
    Orphaneti 306511. Autosomal recessive spastic paraplegia type 48.
    PharmGKBi PA162392841.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG26605.
    HOGENOMi HOG000113147.
    HOVERGENi HBG061547.
    InParanoidi O43299.
    OMAi AQFFLNH.
    OrthoDBi EOG70087D.
    PhylomeDBi O43299.
    TreeFami TF331050.

    Miscellaneous databases

    ChiTaRSi AP5Z1. human.
    GenomeRNAii 9907.
    NextBioi 37361.
    PROi O43299.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43299.
    Bgeei O43299.
    CleanExi HS_KIAA0415.
    Genevestigatori O43299.

    Family and domain databases

    InterProi IPR028222. AP5Z1.
    [Graphical view ]
    Pfami PF14764. SPG48. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro."
      Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 417-807 (ISOFORM 1).
      Tissue: Brain.
    4. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH AP5S1; AP5B1; ZFYVE26 AND SPG11, INVOLVEMENT IN SPG48.
    5. Cited for: FUNCTION IN ENDOSOME TRANSPORT.

    Entry informationi

    Entry nameiAP5Z1_HUMAN
    AccessioniPrimary (citable) accession number: O43299
    Secondary accession number(s): Q8N3X2, Q96H80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: November 28, 2006
    Last modified: October 1, 2014
    This is version 100 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 7
      Human chromosome 7: 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

    External Data

    Dasty 3