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Q9HA90

- EFCC1_HUMAN

UniProt

Q9HA90 - EFCC1_HUMAN

Protein

EF-hand and coiled-coil domain-containing protein 1

Gene

EFCC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (13 Jul 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand and coiled-coil domain-containing protein 1
    Alternative name(s):
    Coiled-coil domain-containing protein 48
    Gene namesi
    Name:EFCC1
    Synonyms:C3orf73, CCDC48
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:25692. EFCC1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672165.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 598598EF-hand and coiled-coil domain-containing protein 1PRO_0000234510Add
    BLAST

    Proteomic databases

    PaxDbiQ9HA90.
    PRIDEiQ9HA90.

    Expressioni

    Gene expression databases

    BgeeiQ9HA90.
    CleanExiHS_CCDC48.
    GenevestigatoriQ9HA90.

    Organism-specific databases

    HPAiHPA042798.
    HPA050888.

    Interactioni

    Protein-protein interaction databases

    BioGridi122918. 1 interaction.
    STRINGi9606.ENSP00000265050.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HA90.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini54 – 8936EF-handPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili196 – 303108Sequence AnalysisAdd
    BLAST
    Coiled coili479 – 53355Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi175 – 18410Poly-Arg
    Compositional biasi582 – 5898Poly-Ala

    Sequence similaritiesi

    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG45785.
    HOGENOMiHOG000090223.
    HOVERGENiHBG078065.
    InParanoidiQ9HA90.
    OMAiRCDDQTA.
    OrthoDBiEOG7BKCTH.
    PhylomeDBiQ9HA90.
    TreeFamiTF330736.

    Family and domain databases

    InterProiIPR002048. EF_hand_dom.
    [Graphical view]
    PROSITEiPS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HA90-1) [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

    MEPVSTGAEA GMEGAGGDPY RRPARRTQWL LSALAHHYGL DRGVENEIVV    50
    LATGLDQYLQ EVFHHLDCRG AGRLPRADFR ALCAVLGLRA EGATTAGQAA 100
    GDGNSRDVTP GDAAAELATD GDSDTDEEAR LALRAEPPEL TFRQFHARLC 150
    GYFGTRAGPR LPRGALSEHI ETQIRLRRPR RRRRPPCAPG PDSGPDCERV 200
    ARLEEENSSL RELVEDLRAA LQSSDARCLA LQVGLWKSQA STHEMGHGGP 250
    EAAVRELRQA QGALAAAEAR AGRLRRGQAE VRRRAEEARQ VVLRSLHRVR 300
    ELEALAQQVP GLQRWVRRLE AELQRYRSED SQLPTPQLAN PEPGDKSNEP 350
    EDAGTRDPDP TPEGAWQSDS SSGSRALDEV DEQLFRSVEG QAASDEEEVE 400
    EERWQEEKKT PAAEAKTLLA RLSSCRGRCD DQTAEKLMTY FGHFGGANHA 450
    HTLGELEACI AMLVEQLRTQ GCGGRTLGTS EEEAELQQKV EENEHLRLEL 500
    QMVETERVRL SLLEEKLVDV LQLLQRLRDL NISKRALGKI LLSTLDAFRD 550
    PTHEGRPSPA AILDALHQAL AACQLLRRQP SAPASAAAAL TNPLLVSC 598
    Length:598
    Mass (Da):65,701
    Last modified:July 13, 2010 - v2
    Checksum:i414C1E0FF5F47EA0
    GO
    Isoform 2 (identifier: Q9HA90-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-437: Missing.

    Show »
    Length:161
    Mass (Da):17,669
    Checksum:i3F15DC9A94532B6B
    GO

    Sequence cautioni

    The sequence AAH93800.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI12196.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti528 – 5281R → Q.
    Corresponds to variant rs3732430 [ dbSNP | Ensembl ].
    VAR_050753

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 437437Missing in isoform 2. 1 PublicationVSP_039449Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022119 mRNA. Translation: BAB13964.1.
    AC112484 Genomic DNA. No translation available.
    BC093800 mRNA. Translation: AAH93800.1. Different initiation.
    BC112195 mRNA. Translation: AAI12196.1. Different initiation.
    BF058142 mRNA. No translation available.
    CCDSiCCDS3054.2. [Q9HA90-1]
    RefSeqiNP_079044.2. NM_024768.2. [Q9HA90-1]
    UniGeneiHs.134807.

    Genome annotation databases

    EnsembliENST00000436022; ENSP00000414597; ENSG00000114654. [Q9HA90-2]
    GeneIDi79825.
    KEGGihsa:79825.
    UCSCiuc011bkt.2. human. [Q9HA90-1]

    Polymorphism databases

    DMDMi300669629.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK022119 mRNA. Translation: BAB13964.1 .
    AC112484 Genomic DNA. No translation available.
    BC093800 mRNA. Translation: AAH93800.1 . Different initiation.
    BC112195 mRNA. Translation: AAI12196.1 . Different initiation.
    BF058142 mRNA. No translation available.
    CCDSi CCDS3054.2. [Q9HA90-1 ]
    RefSeqi NP_079044.2. NM_024768.2. [Q9HA90-1 ]
    UniGenei Hs.134807.

    3D structure databases

    ProteinModelPortali Q9HA90.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122918. 1 interaction.
    STRINGi 9606.ENSP00000265050.

    Polymorphism databases

    DMDMi 300669629.

    Proteomic databases

    PaxDbi Q9HA90.
    PRIDEi Q9HA90.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000436022 ; ENSP00000414597 ; ENSG00000114654 . [Q9HA90-2 ]
    GeneIDi 79825.
    KEGGi hsa:79825.
    UCSCi uc011bkt.2. human. [Q9HA90-1 ]

    Organism-specific databases

    CTDi 79825.
    GeneCardsi GC03P128937.
    HGNCi HGNC:25692. EFCC1.
    HPAi HPA042798.
    HPA050888.
    neXtProti NX_Q9HA90.
    PharmGKBi PA142672165.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45785.
    HOGENOMi HOG000090223.
    HOVERGENi HBG078065.
    InParanoidi Q9HA90.
    OMAi RCDDQTA.
    OrthoDBi EOG7BKCTH.
    PhylomeDBi Q9HA90.
    TreeFami TF330736.

    Miscellaneous databases

    GenomeRNAii 79825.
    NextBioi 69454.
    PROi Q9HA90.

    Gene expression databases

    Bgeei Q9HA90.
    CleanExi HS_CCDC48.
    Genevestigatori Q9HA90.

    Family and domain databases

    InterProi IPR002048. EF_hand_dom.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 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: Embryo.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., 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., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(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] OF 113-276 AND 431-598 (ISOFORM 1).
      Tissue: Brain and Ovary.

    Entry informationi

    Entry nameiEFCC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9HA90
    Secondary accession number(s): A8MYE2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 16, 2006
    Last sequence update: July 13, 2010
    Last modified: October 1, 2014
    This is version 79 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

    Caution

    It is uncertain whether Met-1 or Met-12 is the initiator.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3