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P49754

- VPS41_HUMAN

UniProt

P49754 - VPS41_HUMAN

Protein

Vacuolar protein sorting-associated protein 41 homolog

Gene

VPS41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 3 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    Required for vacuolar assembly and vacuolar traffic.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri791 – 83949RING-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. zinc ion binding Source: InterPro

    GO - Biological processi

    1. Golgi vesicle transport Source: UniProtKB
    2. intracellular protein transport Source: InterPro
    3. vesicle-mediated transport Source: InterPro

    Keywords - Biological processi

    Protein transport, Transport

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vacuolar protein sorting-associated protein 41 homolog
    Alternative name(s):
    S53
    Gene namesi
    Name:VPS41
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:12713. VPS41.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. early endosome Source: Ensembl
    3. Golgi-associated vesicle Source: UniProtKB
    4. HOPS complex Source: UniProtKB
    5. late endosome Source: Ensembl
    6. lysosomal membrane Source: UniProtKB
    7. membrane Source: UniProtKB
    8. microtubule Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37328.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 854854Vacuolar protein sorting-associated protein 41 homologPRO_0000212823Add
    BLAST

    Proteomic databases

    MaxQBiP49754.
    PaxDbiP49754.
    PRIDEiP49754.

    PTM databases

    PhosphoSiteiP49754.

    Expressioni

    Gene expression databases

    ArrayExpressiP49754.
    BgeeiP49754.
    CleanExiHS_VPS41.
    GenevestigatoriP49754.

    Organism-specific databases

    HPAiHPA020080.
    HPA020299.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    VIPAS39Q9H9C14EBI-2130459,EBI-749080

    Protein-protein interaction databases

    BioGridi117982. 17 interactions.
    IntActiP49754. 6 interactions.
    MINTiMINT-1187089.
    STRINGi9606.ENSP00000309457.

    Structurei

    3D structure databases

    ProteinModelPortaliP49754.
    SMRiP49754. Positions 57-135, 170-199.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati568 – 712145CHCRAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi18 – 2710Poly-Glu

    Sequence similaritiesi

    Belongs to the VPS41 family.Curated
    Contains 1 CHCR (clathrin heavy-chain) repeat.PROSITE-ProRule annotation
    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri791 – 83949RING-type; atypicalPROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG285467.
    HOGENOMiHOG000247002.
    HOVERGENiHBG056494.
    InParanoidiP49754.
    OMAiICSAKHR.
    OrthoDBiEOG7DVD9K.
    PhylomeDBiP49754.
    TreeFamiTF300451.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    2.130.10.10. 1 hit.
    3.30.40.10. 1 hit.
    InterProiIPR000547. Clathrin_H-chain/VPS_repeat.
    IPR011990. TPR-like_helical.
    IPR016902. VPS41.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PfamiPF00637. Clathrin. 1 hit.
    [Graphical view]
    PIRSFiPIRSF028921. VPS41. 1 hit.
    SMARTiSM00299. CLH. 1 hit.
    SM00184. RING. 1 hit.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS50236. CHCR. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P49754-1) [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

    MAEAEEQETG SLEESTDESE EEESEEEPKL KYERLSNGVT EILQKDAASC    50
    MTVHDKFLAL GTHYGKVYLL DVQGNITQKF DVSPVKINQI SLDESGEHMG 100
    VCSEDGKVQV FGLYSGEEFH ETFDCPIKII AVHPHFVRSS CKQFVTGGKK 150
    LLLFERSWMN RWKSAVLHEG EGNIRSVKWR GHLIAWANNM GVKIFDIISK 200
    QRITNVPRDD ISLRPDMYPC SLCWKDNVTL IIGWGTSVKV CSVKERHASE 250
    MRDLPSRYVE IVSQFETEFY ISGLAPLCDQ LVVLSYVKEI SEKTEREYCA 300
    RPRLDIIQPL SETCEEISSD ALTVRGFQEN ECRDYHLEYS EGESLFYIVS 350
    PRDVVVAKER DQDDHIDWLL EKKKYEEALM AAEISQKNIK RHKILDIGLA 400
    YINHLVERGD YDIAARKCQK ILGKNAALWE YEVYKFKEIG QLKAISPYLP 450
    RGDPVLKPLI YEMILHEFLE SDYEGFATLI REWPGDLYNN SVIVQAVRDH 500
    LKKDSQNKTL LKTLAELYTY DKNYGNALEI YLTLRHKDVF QLIHKHNLFS 550
    SIKDKIVLLM DFDSEKAVDM LLDNEDKISI KKVVEELEDR PELQHVYLHK 600
    LFKRDHHKGQ RYHEKQISLY AEYDRPNLLP FLRDSTHCPL EKALEICQQR 650
    NFVEETVYLL SRMGNSRSAL KMIMEELHDV DKAIEFAKEQ DDGELWEDLI 700
    LYSIDKPPFI TGLLNNIGTH VDPILLIHRI KEGMEIPNLR DSLVKILQDY 750
    NLQILLREGC KKILVADSLS LLKKMHRTQM KGVLVDEENI CESCLSPILP 800
    SDAAKPFSVV VFHCRHMFHK ECLPMPSMNS AAQFCNICSA KNRGPGSAIL 850
    EMKK 854
    Length:854
    Mass (Da):98,566
    Last modified:December 16, 2008 - v3
    Checksum:i037577D5FA3A18A0
    GO
    Isoform 2 (identifier: P49754-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         802-802: D → E
         803-854: Missing.

    Show »
    Length:802
    Mass (Da):92,846
    Checksum:iA55F7C217AC0D88E
    GO
    Isoform 3 (identifier: P49754-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         83-107: Missing.

    Note: No experimental confirmation available. Gene prediction based on EST data.

    Show »
    Length:829
    Mass (Da):95,924
    Checksum:i6F1E1E9EAA2859B4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51E → V in AAB47563. (PubMed:9159129)Curated
    Sequence conflicti615 – 6184KQIS → WHEG in AAC42004. (PubMed:7596406)Curated
    Sequence conflicti736 – 7449IPNLRDSLV → DPQFERFLG in AAC42004. (PubMed:7596406)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti146 – 1461T → P.
    Corresponds to variant rs35693565 [ dbSNP | Ensembl ].
    VAR_047914
    Natural varianti647 – 6471C → R.
    Corresponds to variant rs11762417 [ dbSNP | Ensembl ].
    VAR_047915
    Natural varianti843 – 8431R → H.
    Corresponds to variant rs1059508 [ dbSNP | Ensembl ].
    VAR_047916

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei83 – 10725Missing in isoform 3. CuratedVSP_054169Add
    BLAST
    Alternative sequencei802 – 8021D → E in isoform 2. 1 PublicationVSP_006751
    Alternative sequencei803 – 85452Missing in isoform 2. 1 PublicationVSP_006752Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U87281 mRNA. Translation: AAB47758.1.
    U87309 mRNA. Translation: AAB47563.1.
    AC004850 Genomic DNA. No translation available.
    AC005247 Genomic DNA. No translation available.
    AC011292 Genomic DNA. No translation available.
    BC044851 mRNA. Translation: AAH44851.1.
    L40398 mRNA. Translation: AAC42004.1.
    CCDSiCCDS5457.1. [P49754-1]
    CCDS5458.2. [P49754-3]
    RefSeqiNP_055211.2. NM_014396.3. [P49754-1]
    NP_542198.2. NM_080631.3. [P49754-3]
    UniGeneiHs.592184.

    Genome annotation databases

    EnsembliENST00000310301; ENSP00000309457; ENSG00000006715. [P49754-1]
    ENST00000395969; ENSP00000379297; ENSG00000006715. [P49754-3]
    GeneIDi27072.
    KEGGihsa:27072.
    UCSCiuc003tgy.3. human. [P49754-1]

    Polymorphism databases

    DMDMi218512109.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U87281 mRNA. Translation: AAB47758.1 .
    U87309 mRNA. Translation: AAB47563.1 .
    AC004850 Genomic DNA. No translation available.
    AC005247 Genomic DNA. No translation available.
    AC011292 Genomic DNA. No translation available.
    BC044851 mRNA. Translation: AAH44851.1 .
    L40398 mRNA. Translation: AAC42004.1 .
    CCDSi CCDS5457.1. [P49754-1 ]
    CCDS5458.2. [P49754-3 ]
    RefSeqi NP_055211.2. NM_014396.3. [P49754-1 ]
    NP_542198.2. NM_080631.3. [P49754-3 ]
    UniGenei Hs.592184.

    3D structure databases

    ProteinModelPortali P49754.
    SMRi P49754. Positions 57-135, 170-199.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117982. 17 interactions.
    IntActi P49754. 6 interactions.
    MINTi MINT-1187089.
    STRINGi 9606.ENSP00000309457.

    PTM databases

    PhosphoSitei P49754.

    Polymorphism databases

    DMDMi 218512109.

    Proteomic databases

    MaxQBi P49754.
    PaxDbi P49754.
    PRIDEi P49754.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310301 ; ENSP00000309457 ; ENSG00000006715 . [P49754-1 ]
    ENST00000395969 ; ENSP00000379297 ; ENSG00000006715 . [P49754-3 ]
    GeneIDi 27072.
    KEGGi hsa:27072.
    UCSCi uc003tgy.3. human. [P49754-1 ]

    Organism-specific databases

    CTDi 27072.
    GeneCardsi GC07M039137.
    H-InvDB HIX0006614.
    HGNCi HGNC:12713. VPS41.
    HPAi HPA020080.
    HPA020299.
    MIMi 605485. gene.
    neXtProti NX_P49754.
    PharmGKBi PA37328.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285467.
    HOGENOMi HOG000247002.
    HOVERGENi HBG056494.
    InParanoidi P49754.
    OMAi ICSAKHR.
    OrthoDBi EOG7DVD9K.
    PhylomeDBi P49754.
    TreeFami TF300451.

    Miscellaneous databases

    ChiTaRSi VPS41. human.
    GenomeRNAii 27072.
    NextBioi 49663.
    PROi P49754.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P49754.
    Bgeei P49754.
    CleanExi HS_VPS41.
    Genevestigatori P49754.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    2.130.10.10. 1 hit.
    3.30.40.10. 1 hit.
    InterProi IPR000547. Clathrin_H-chain/VPS_repeat.
    IPR011990. TPR-like_helical.
    IPR016902. VPS41.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    Pfami PF00637. Clathrin. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF028921. VPS41. 1 hit.
    SMARTi SM00299. CLH. 1 hit.
    SM00184. RING. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS50236. CHCR. 1 hit.
    PS50089. ZF_RING_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of VPS41, a gene required for vacuolar trafficking and high-affinity iron transport in yeast."
      Radisky D.C., Snyder W.B., Emr S.D., Kaplan J.
      Proc. Natl. Acad. Sci. U.S.A. 94:5662-5666(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION.
      Tissue: Heart.
    2. "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].
    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 1).
      Tissue: Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 615-744.
      Tissue: Brain.

    Entry informationi

    Entry nameiVPS41_HUMAN
    AccessioniPrimary (citable) accession number: P49754
    Secondary accession number(s): E9PF36
    , Q86TP8, Q99851, Q99852
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 124 of the entry and version 3 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3