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Q9BUP0

- EFHD1_HUMAN

UniProt

Q9BUP0 - EFHD1_HUMAN

Protein

EF-hand domain-containing protein D1

Gene

EFHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi103 – 114121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi139 – 150122PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. neuron projection development Source: Ensembl

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand domain-containing protein D1
    Alternative name(s):
    EF-hand domain-containing protein 1
    Swiprosin-2
    Gene namesi
    Name:EFHD1
    Synonyms:SWS2
    ORF Names:PP3051
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:29556. EFHD1.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. mitochondrial inner membrane Source: Ensembl

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134935372.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 239239EF-hand domain-containing protein D1PRO_0000073643Add
    BLAST

    Proteomic databases

    MaxQBiQ9BUP0.
    PaxDbiQ9BUP0.
    PeptideAtlasiQ9BUP0.
    PRIDEiQ9BUP0.

    PTM databases

    PhosphoSiteiQ9BUP0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BUP0.
    BgeeiQ9BUP0.
    CleanExiHS_EFHD1.
    GenevestigatoriQ9BUP0.

    Organism-specific databases

    HPAiHPA049331.
    HPA056959.

    Interactioni

    Protein-protein interaction databases

    BioGridi123216. 6 interactions.
    IntActiQ9BUP0. 1 interaction.
    STRINGi9606.ENSP00000264059.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BUP0.
    SMRiQ9BUP0. Positions 66-233.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini90 – 12536EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini126 – 16136EF-hand 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 2 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG259396.
    HOVERGENiHBG051446.
    InParanoidiQ9BUP0.
    OMAiRRQDINA.
    OrthoDBiEOG7H1JNV.
    PhylomeDBiQ9BUP0.
    TreeFamiTF320736.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PfamiPF13499. EF-hand_7. 1 hit.
    [Graphical view]
    SMARTiSM00054. EFh. 2 hits.
    [Graphical view]
    PROSITEiPS50222. EF_HAND_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BUP0-1) [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

    MASEELACKL ERRLRREEAE ESGPQLAPLG APAPEPKPEP EPPARAPTAS    50
    ADAELSAQLS RRLDINEGAA RPRRCRVFNP YTEFPEFSRR LIKDLESMFK 100
    LYDAGRDGFI DLMELKLMME KLGAPQTHLG LKSMIKEVDE DFDGKLSFRE 150
    FLLIFHKAAA GELQEDSGLM ALAKLSEIDV ALEGVKGAKN FFEAKVQALS 200
    SASKFEAELK AEQDERKREE EERRLRQAAF QKLKANFNT 239
    Length:239
    Mass (Da):26,928
    Last modified:June 1, 2001 - v1
    Checksum:i1712F79E2A3CC007
    GO
    Isoform 2 (identifier: Q9BUP0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-101: MASEELACKL...IKDLESMFKL → MGELQ

    Note: No experimental confirmation available.

    Show »
    Length:143
    Mass (Da):16,145
    Checksum:iAF28A675916BE056
    GO

    Sequence cautioni

    The sequence AAG17248.1 differs from that shown. Reason: Frameshift at position 72.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861K → R.2 Publications
    Corresponds to variant rs11550699 [ dbSNP | Ensembl ].
    VAR_047966

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 101101MASEE…SMFKL → MGELQ in isoform 2. 1 PublicationVSP_045541Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF218006 mRNA. Translation: AAG17248.1. Frameshift.
    AK023674 mRNA. Translation: BAB14634.1.
    AK310565 mRNA. No translation available.
    AK315442 mRNA. Translation: BAG37830.1.
    AC064852 Genomic DNA. No translation available.
    AC073254 Genomic DNA. No translation available.
    BC002449 mRNA. Translation: AAH02449.1.
    BC004128 mRNA. Translation: AAH04128.2.
    CCDSiCCDS2497.1. [Q9BUP0-1]
    CCDS58755.1. [Q9BUP0-2]
    RefSeqiNP_001230181.1. NM_001243252.1. [Q9BUP0-2]
    NP_079478.1. NM_025202.3. [Q9BUP0-1]
    UniGeneiHs.516769.
    Hs.744624.

    Genome annotation databases

    EnsembliENST00000264059; ENSP00000264059; ENSG00000115468. [Q9BUP0-1]
    ENST00000409613; ENSP00000386556; ENSG00000115468. [Q9BUP0-2]
    GeneIDi80303.
    KEGGihsa:80303.
    UCSCiuc002vtc.3. human. [Q9BUP0-1]

    Polymorphism databases

    DMDMi20140222.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF218006 mRNA. Translation: AAG17248.1 . Frameshift.
    AK023674 mRNA. Translation: BAB14634.1 .
    AK310565 mRNA. No translation available.
    AK315442 mRNA. Translation: BAG37830.1 .
    AC064852 Genomic DNA. No translation available.
    AC073254 Genomic DNA. No translation available.
    BC002449 mRNA. Translation: AAH02449.1 .
    BC004128 mRNA. Translation: AAH04128.2 .
    CCDSi CCDS2497.1. [Q9BUP0-1 ]
    CCDS58755.1. [Q9BUP0-2 ]
    RefSeqi NP_001230181.1. NM_001243252.1. [Q9BUP0-2 ]
    NP_079478.1. NM_025202.3. [Q9BUP0-1 ]
    UniGenei Hs.516769.
    Hs.744624.

    3D structure databases

    ProteinModelPortali Q9BUP0.
    SMRi Q9BUP0. Positions 66-233.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123216. 6 interactions.
    IntActi Q9BUP0. 1 interaction.
    STRINGi 9606.ENSP00000264059.

    PTM databases

    PhosphoSitei Q9BUP0.

    Polymorphism databases

    DMDMi 20140222.

    Proteomic databases

    MaxQBi Q9BUP0.
    PaxDbi Q9BUP0.
    PeptideAtlasi Q9BUP0.
    PRIDEi Q9BUP0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264059 ; ENSP00000264059 ; ENSG00000115468 . [Q9BUP0-1 ]
    ENST00000409613 ; ENSP00000386556 ; ENSG00000115468 . [Q9BUP0-2 ]
    GeneIDi 80303.
    KEGGi hsa:80303.
    UCSCi uc002vtc.3. human. [Q9BUP0-1 ]

    Organism-specific databases

    CTDi 80303.
    GeneCardsi GC02P233470.
    HGNCi HGNC:29556. EFHD1.
    HPAi HPA049331.
    HPA056959.
    MIMi 611617. gene.
    neXtProti NX_Q9BUP0.
    PharmGKBi PA134935372.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259396.
    HOVERGENi HBG051446.
    InParanoidi Q9BUP0.
    OMAi RRQDINA.
    OrthoDBi EOG7H1JNV.
    PhylomeDBi Q9BUP0.
    TreeFami TF320736.

    Miscellaneous databases

    ChiTaRSi EFHD1. human.
    GenomeRNAii 80303.
    NextBioi 70764.
    PROi Q9BUP0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BUP0.
    Bgeei Q9BUP0.
    CleanExi HS_EFHD1.
    Genevestigatori Q9BUP0.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF13499. EF-hand_7. 1 hit.
    [Graphical view ]
    SMARTi SM00054. EFh. 2 hits.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
      Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
      , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
      Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    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] (ISOFORMS 1 AND 2), VARIANT ARG-186.
      Tissue: Heart, Placenta and Thymus.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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), VARIANT ARG-186.
      Tissue: Eye and Lung.

    Entry informationi

    Entry nameiEFHD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9BUP0
    Secondary accession number(s): B2RD83
    , E9PFH3, Q9BTF8, Q9H8I2, Q9HBQ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2002
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 114 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

    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
    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