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Q6NXP0

- EFC12_HUMAN

UniProt

Q6NXP0 - EFC12_HUMAN

Protein

EF-hand calcium-binding domain-containing protein 12

Gene

EFCAB12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi206 – 21712PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand calcium-binding domain-containing protein 12
    Gene namesi
    Name:EFCAB12
    Synonyms:C3orf25
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:28061. EFCAB12.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 572572EF-hand calcium-binding domain-containing protein 12PRO_0000238660Add
    BLAST

    Proteomic databases

    PaxDbiQ6NXP0.
    PRIDEiQ6NXP0.

    PTM databases

    PhosphoSiteiQ6NXP0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6NXP0.
    BgeeiQ6NXP0.
    CleanExiHS_C3orf25.
    GenevestigatoriQ6NXP0.

    Organism-specific databases

    HPAiHPA037694.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000324241.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6NXP0.
    SMRiQ6NXP0. Positions 200-262.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini196 – 23136EF-handPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG70703.
    HOGENOMiHOG000111362.
    HOVERGENiHBG081006.
    InParanoidiQ6NXP0.
    OMAiTITMDIL.
    OrthoDBiEOG7KDF9G.
    PhylomeDBiQ6NXP0.
    TreeFamiTF336894.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q6NXP0-1 [UniParc]FASTAAdd to Basket

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    MDDDYEAYHS LFLSLLGLCP SKTPINENAP VFDPEPVIAH CFKQFQQKDF    50
    RLPQTRRRII MVPRKEDQTP LNPASQPQAP PKPIPSFKVL EARDIQEQPE 100
    DRKTWLSQRS KLRQELESFG DVKRWLENKP SITPSEAKVL HMIHEEQSAQ 150
    PNASQATTRT TRKKAPRLSR LSRQMVPQLQ LPEPPALSVM YSYLHSRKIK 200
    ILEIFHKVGQ GENQRITREE FIAAVKAVGV PLKNQEVEDI VIYLSSLGKH 250
    NTITMDILAN TYKQWSMAQQ RSSLATAREH YILAKHRDSL KGPLKKQEVD 300
    SAPQLPKVDL LTVPAVDTQM ETRPMTLEEM EEVGKRYRER QRQHKLTIPS 350
    IQYTEQCHLV RCGNRHFDEH CLPSTIHGDM RELIDSARRH NFLVYLQCWK 400
    LCKSYGLPLT EDILMKALLY PGDKIIFQMD KVCPIRQPGG YYSDWKVFSP 450
    NLALLRSQGP GKSKRTDKKT PKKSKKMRFK EFEEFTRKLK VKRSSGLQQT 500
    HPNSFWPGHL LDKLQLYLPT VATDRSLALF SCVQHQPHVY PATYHPDHWW 550
    PLRNKNYMTH AHYDAAKVYY IN 572
    Length:572
    Mass (Da):66,551
    Last modified:July 5, 2004 - v1
    Checksum:i7F2695D741E83A17
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361P → L.
    Corresponds to variant rs58932597 [ dbSNP | Ensembl ].
    VAR_061089
    Natural varianti66 – 661E → G.
    Corresponds to variant rs3774787 [ dbSNP | Ensembl ].
    VAR_033697
    Natural varianti215 – 2151R → G.
    Corresponds to variant rs6790768 [ dbSNP | Ensembl ].
    VAR_048667
    Natural varianti280 – 2801H → R.
    Corresponds to variant rs9836111 [ dbSNP | Ensembl ].
    VAR_061090
    Natural varianti541 – 5411P → S.
    Corresponds to variant rs12637267 [ dbSNP | Ensembl ].
    VAR_048668

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC066975 mRNA. Translation: AAH66975.1.
    AL133011 mRNA. Translation: CAH10712.1.
    CCDSiCCDS54638.1.
    RefSeqiNP_997190.1. NM_207307.1.
    UniGeneiHs.652347.

    Genome annotation databases

    EnsembliENST00000326085; ENSP00000324241; ENSG00000172771.
    ENST00000505956; ENSP00000420854; ENSG00000172771.
    GeneIDi90288.
    KEGGihsa:90288.
    UCSCiuc003emg.3. human.

    Polymorphism databases

    DMDMi74736979.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BC066975 mRNA. Translation: AAH66975.1 .
    AL133011 mRNA. Translation: CAH10712.1 .
    CCDSi CCDS54638.1.
    RefSeqi NP_997190.1. NM_207307.1.
    UniGenei Hs.652347.

    3D structure databases

    ProteinModelPortali Q6NXP0.
    SMRi Q6NXP0. Positions 200-262.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000324241.

    PTM databases

    PhosphoSitei Q6NXP0.

    Polymorphism databases

    DMDMi 74736979.

    Proteomic databases

    PaxDbi Q6NXP0.
    PRIDEi Q6NXP0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000326085 ; ENSP00000324241 ; ENSG00000172771 .
    ENST00000505956 ; ENSP00000420854 ; ENSG00000172771 .
    GeneIDi 90288.
    KEGGi hsa:90288.
    UCSCi uc003emg.3. human.

    Organism-specific databases

    CTDi 90288.
    GeneCardsi GC03M129122.
    H-InvDB HIX0200500.
    HGNCi HGNC:28061. EFCAB12.
    HPAi HPA037694.
    neXtProti NX_Q6NXP0.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70703.
    HOGENOMi HOG000111362.
    HOVERGENi HBG081006.
    InParanoidi Q6NXP0.
    OMAi TITMDIL.
    OrthoDBi EOG7KDF9G.
    PhylomeDBi Q6NXP0.
    TreeFami TF336894.

    Miscellaneous databases

    GenomeRNAii 90288.
    NextBioi 13630268.
    PROi Q6NXP0.

    Gene expression databases

    ArrayExpressi Q6NXP0.
    Bgeei Q6NXP0.
    CleanExi HS_C3orf25.
    Genevestigatori Q6NXP0.

    Family and domain databases

    InterProi IPR002048. EF_hand_dom.
    [Graphical view ]
    PROSITEi PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
      Tissue: Brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 91-572.
      Tissue: Testis.

    Entry informationi

    Entry nameiEFC12_HUMAN
    AccessioniPrimary (citable) accession number: Q6NXP0
    Secondary accession number(s): Q69YX4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 90 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 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