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Q5THR3

- EFCB6_HUMAN

UniProt

Q5THR3 - EFCB6_HUMAN

Protein

EF-hand calcium-binding domain-containing protein 6

Gene

EFCAB6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi754 – 76512PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand calcium-binding domain-containing protein 6
    Alternative name(s):
    CAP-binding protein complex-interacting protein 1
    DJ-1-binding protein
    Short name:
    DJBP
    Gene namesi
    Name:EFCAB6
    Synonyms:DJBP, KIAA1672
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:24204. EFCAB6.

    Subcellular locationi

    Nucleus 1 Publication

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162384324.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 15011501EF-hand calcium-binding domain-containing protein 6PRO_0000246024Add
    BLAST

    Proteomic databases

    PaxDbiQ5THR3.
    PRIDEiQ5THR3.

    PTM databases

    PhosphoSiteiQ5THR3.

    Expressioni

    Tissue specificityi

    Specifically expressed in the testis.1 Publication

    Gene expression databases

    ArrayExpressiQ5THR3.
    BgeeiQ5THR3.
    CleanExiHS_EFCAB6.
    GenevestigatoriQ5THR3.

    Organism-specific databases

    HPAiHPA003098.
    HPA018946.

    Interactioni

    Subunit structurei

    Binds PARK7. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.

    Protein-protein interaction databases

    BioGridi122306. 4 interactions.

    Structurei

    Secondary structure

    1
    1501
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1164 – 117613
    Helixi1178 – 118811
    Helixi1198 – 120811
    Helixi1214 – 12218
    Helixi1234 – 12418

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1WLZX-ray1.60A/B/C/D1160-1260[»]
    ProteinModelPortaliQ5THR3.
    SMRiQ5THR3. Positions 74-235, 304-361, 410-466, 777-803, 851-910, 971-1030, 1077-1131, 1160-1242, 1358-1384, 1440-1498.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ5THR3.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini70 – 10536EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini172 – 20736EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini297 – 33236EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini403 – 43836EF-hand 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini439 – 47436EF-hand 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini504 – 53936EF-hand 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini634 – 66936EF-hand 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini741 – 77636EF-hand 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini847 – 88236EF-hand 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini883 – 91836EF-hand 10PROSITE-ProRule annotationAdd
    BLAST
    Domaini964 – 99936EF-hand 11PROSITE-ProRule annotationAdd
    BLAST
    Domaini1069 – 110436EF-hand 12PROSITE-ProRule annotationAdd
    BLAST
    Domaini1176 – 121136EF-hand 13PROSITE-ProRule annotationAdd
    BLAST
    Domaini1212 – 124736EF-hand 14PROSITE-ProRule annotationAdd
    BLAST
    Domaini1359 – 139436EF-hand 15PROSITE-ProRule annotationAdd
    BLAST
    Domaini1434 – 146936EF-hand 16PROSITE-ProRule annotationAdd
    BLAST
    Domaini1470 – 150132EF-hand 17PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1303 – 1501199Interaction with PARK7Add
    BLAST
    Regioni1407 – 150195Interaction with ARAdd
    BLAST

    Sequence similaritiesi

    Contains 17 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG46752.
    HOVERGENiHBG095997.
    InParanoidiQ5THR3.
    OMAiGMPMDDD.
    OrthoDBiEOG7SV0TX.
    PhylomeDBiQ5THR3.
    TreeFamiTF329179.

    Family and domain databases

    Gene3Di1.10.238.10. 11 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR015070. EF_hand_Ca-bd_contain_6.
    IPR002048. EF_hand_dom.
    [Graphical view]
    PfamiPF08976. DUF1880. 1 hit.
    PF13499. EF-hand_7. 1 hit.
    [Graphical view]
    SMARTiSM00054. EFh. 12 hits.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 17 hits.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5THR3-1) [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

    MCKMAIIPDW LRSHPHTRKF THSRPHSSPC RVYSRNGSPN KFRSSSTTAV     50
    ANPTLSSLDV KRILFQKITD RGDELQKAFQ LLDTGQNLTV SKSELRRIIT 100
    DFLMPLTREQ FQDVLAQIPL STSGTVPYLA FLSRFGGIDL YINGIKRGGG 150
    NEMNCCRTLR ELEIQVGEKV FKNIKTVMKA FELIDVNKTG LVRPQELRRV 200
    LETFCMKLRD EEYEKFSKHY NIHKDTAVDY NVFLKNLSIN NDLNLRYCMG 250
    NQEVSLENQQ AKNSKKERLL GSASSEDIWR NYSLDEIERN FCLQLSKSYE 300
    KVEKALSAGD PCKGGYVSFN YLKIVLDTFV YQIPRRIFIQ LMKRFGLKAT 350
    TKINWKQFLT SFHEPQGLQV SSKGPLTKRN SINSRNESHK ENIITKLFRH 400
    TEDHSASLKK ALLIINTKPD GPITREEFRY ILNCMAVKLS DSEFKELMQM 450
    LDPGDTGVVN TSMFIDLIEE NCRMRKTSPC TDAKTPFLLA WDSVEEIVHD 500
    TITRNLQAFY NMLRSYDLGD TGRIGRNNFK KIMHVFCPFL TNAHFIKLCS 550
    KIQDIGSGRI LYKKLLACIG IDGPPTVSPV LVPKDQLLSE HLQKDEQQQP 600
    DLSERTKLTE DKTTLTKKMT TEEVIEKFKK CIQQQDPAFK KRFLDFSKEP 650
    NGKINVHDFK KVLEDTGMPM DDDQYALLTT KIGFEKEGMS YLDFAAGFED 700
    PPMRGPETTP PQPPTPSKSY VNSHFITAEE CLKLFPRRLK ESFRDPYSAF 750
    FKTDADRDGI INMHDLHRLL LHLLLNLKDD EFERFLGLLG LRLSVTLNFR 800
    EFQNLCEKRP WRTDEAPQRL IRPKQKVADS ELACEQAHQY LVTKAKNRWS 850
    DLSKNFLETD NEGNGILRRR DIKNALYGFD IPLTPREFEK LWARYDTEGK 900
    GHITYQEFLQ KLGINYSPAV HRPCAEDYFN FMGHFTKPQQ LQEEMKELQQ 950
    STEKAVAARD KLMDRHQDIS KAFTKTDQSK TNYISICKMQ EVLEECGCSL 1000
    TEGELTHLLN SWGVSRHDNA INYLDFLRAV ENSKSTGAQP KEKEESMPIN 1050
    FATLNPQEAV RKIQEVVESS QLALSTAFSA LDKEDTGFVK ATEFGQVLKD 1100
    FCYKLTDNQY HYFLRKLRIH LTPYINWKYF LQNFSCFLEE TADEWAEKMP 1150
    KGPPPTSPKA TADRDILARL HKAVTSHYHA ITQEFENFDT MKTNTISREE 1200
    FRAICNRRVQ ILTDEQFDRL WNEMPVNAKG RLKYPDFLSR FSSETAATPM 1250
    ATGDSAVAQR GSSVPDVSEG TRSALSLPTQ ELRPGSKSQS HPCTPASTTV 1300
    IPGTPPLQNC DPIESRLRKR IQGCWRQLLK ECKEKDVARQ GDINASDFLA 1350
    LVEKFNLDIS KEECQQLIIK YDLKSNGKFA YCDFIQSCVL LLKAKESSLM 1400
    HRMKIQNAHK MKEAGAETPS FYSALLRIQP KIVHCWRPMR RTFKSYDEAG 1450
    TGLLSVADFR TVLRQYSINL SEEEFFHILE YYDKTLSSKI SYNDFLRAFL 1500
    Q 1501
    Length:1,501
    Mass (Da):172,930
    Last modified:December 21, 2004 - v1
    Checksum:i1D380F63D7FA8FF9
    GO
    Isoform 2 (identifier: Q5THR3-2) [UniParc]FASTAAdd to Basket

    Also known as: Isoform b

    The sequence of this isoform differs from the canonical sequence as follows:
         1-152: Missing.

    Show »
    Length:1,349
    Mass (Da):155,839
    Checksum:iF87F0B8368C7E476
    GO
    Isoform 3 (identifier: Q5THR3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-931: Missing.

    Show »
    Length:570
    Mass (Da):65,308
    Checksum:iF3FB697CB1D3161E
    GO
    Isoform 4 (identifier: Q5THR3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1139: Missing.
         1140-1140: E → M

    Note: No experimental confirmation available.

    Show »
    Length:362
    Mass (Da):41,263
    Checksum:i46B36F8248128C3F
    GO
    Isoform 6 (identifier: Q5THR3-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         418-420: KPD → VRF
         421-1501: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:420
    Mass (Da):48,464
    Checksum:iCC793F6A57192EA9
    GO
    Isoform 5 (identifier: Q5THR3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1217-1249: FDRLWNEMPVNAKGRLKYPDFLSRFSSETAATP → VRNASQSSPCTPLAERQPGPWPECTEFKTVLYF
         1250-1501: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,249
    Mass (Da):144,276
    Checksum:iD35F8F03F7772E08
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti478 – 4781S → P in BAF85187. (PubMed:14702039)Curated
    Sequence conflicti726 – 7261I → V in BAF85187. (PubMed:14702039)Curated
    Sequence conflicti833 – 8331A → V in BAF85187. (PubMed:14702039)Curated
    Sequence conflicti882 – 8821P → S in BAF85100. (PubMed:14702039)Curated
    Sequence conflicti990 – 9901Q → H in BAB71780. (PubMed:12612053)Curated
    Sequence conflicti990 – 9901Q → H in BAB15703. (PubMed:14702039)Curated
    Sequence conflicti1082 – 10821D → G in AAH39315. (PubMed:15489334)Curated
    Sequence conflicti1139 – 11391E → G in BAF85100. (PubMed:14702039)Curated
    Sequence conflicti1182 – 11821T → P in BAF85187. (PubMed:14702039)Curated
    Sequence conflicti1218 – 12181D → G in AAH39315. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti166 – 1661V → A.
    Corresponds to variant rs16990981 [ dbSNP | Ensembl ].
    VAR_048648
    Natural varianti199 – 1991R → G.
    Corresponds to variant rs3747203 [ dbSNP | Ensembl ].
    VAR_048649
    Natural varianti351 – 3511T → A.1 Publication
    Corresponds to variant rs5764214 [ dbSNP | Ensembl ].
    VAR_048650
    Natural varianti384 – 3841S → A.
    Corresponds to variant rs6006438 [ dbSNP | Ensembl ].
    VAR_048651
    Natural varianti400 – 4001H → Y.1 Publication
    Corresponds to variant rs137794 [ dbSNP | Ensembl ].
    VAR_048652
    Natural varianti680 – 6801T → A.1 Publication
    Corresponds to variant rs137731 [ dbSNP | Ensembl ].
    VAR_048653
    Natural varianti780 – 7801D → N.
    Corresponds to variant rs12159591 [ dbSNP | Ensembl ].
    VAR_048654
    Natural varianti800 – 8001R → W.
    Corresponds to variant rs6006514 [ dbSNP | Ensembl ].
    VAR_048655
    Natural varianti1059 – 10591A → V.3 Publications
    Corresponds to variant rs9614382 [ dbSNP | Ensembl ].
    VAR_048656

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11391139Missing in isoform 4. 1 PublicationVSP_019808Add
    BLAST
    Alternative sequencei1 – 931931Missing in isoform 3. 2 PublicationsVSP_019809Add
    BLAST
    Alternative sequencei1 – 152152Missing in isoform 2. 1 PublicationVSP_019810Add
    BLAST
    Alternative sequencei418 – 4203KPD → VRF in isoform 6. CuratedVSP_034831
    Alternative sequencei421 – 15011081Missing in isoform 6. CuratedVSP_034832Add
    BLAST
    Alternative sequencei1140 – 11401E → M in isoform 4. 1 PublicationVSP_019811
    Alternative sequencei1217 – 124933FDRLW…TAATP → VRNASQSSPCTPLAERQPGP WPECTEFKTVLYF in isoform 5. 1 PublicationVSP_019812Add
    BLAST
    Alternative sequencei1250 – 1501252Missing in isoform 5. 1 PublicationVSP_019813Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB073862 mRNA. Translation: BAB71780.1.
    AK027241 mRNA. Translation: BAB15703.1.
    AK292411 mRNA. Translation: BAF85100.1.
    AK292498 mRNA. Translation: BAF85187.1.
    AL355841 mRNA. Translation: CAB91065.1.
    Z82201
    , AL023801, AL031843, AL118498, Z97055 Genomic DNA. Translation: CAQ07046.1.
    Z82201, AL023801, Z97055 Genomic DNA. Translation: CAQ07047.1.
    Z97055
    , AL023801, AL031843, AL118498, Z82201 Genomic DNA. Translation: CAQ09926.1.
    Z97055, AL023801, Z82201 Genomic DNA. Translation: CAQ09928.1.
    AL023801
    , AL031843, AL118498, Z82201, Z97055 Genomic DNA. Translation: CAQ10020.1.
    AL023801, Z82201, Z97055 Genomic DNA. Translation: CAQ10022.1.
    AL031843
    , AL023801, AL118498, Z82201, Z97055 Genomic DNA. Translation: CAQ10334.1.
    AL118498
    , AL023801, AL031843, Z82201, Z97055 Genomic DNA. Translation: CAQ11050.1.
    BC039315 mRNA. Translation: AAH39315.1.
    AB051459 mRNA. Translation: BAB33342.1.
    CCDSiCCDS14049.1. [Q5THR3-1]
    CCDS14050.1. [Q5THR3-2]
    RefSeqiNP_073622.2. NM_022785.3. [Q5THR3-1]
    NP_942153.1. NM_198856.2. [Q5THR3-2]
    UniGeneiHs.658996.

    Genome annotation databases

    EnsembliENST00000262726; ENSP00000262726; ENSG00000186976. [Q5THR3-1]
    ENST00000396231; ENSP00000379533; ENSG00000186976. [Q5THR3-2]
    GeneIDi64800.
    KEGGihsa:64800.
    UCSCiuc003bdy.2. human. [Q5THR3-1]
    uc003bea.2. human. [Q5THR3-6]
    uc010gzj.1. human. [Q5THR3-3]
    uc031rxz.1. human. [Q5THR3-4]

    Polymorphism databases

    DMDMi74756634.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB073862 mRNA. Translation: BAB71780.1 .
    AK027241 mRNA. Translation: BAB15703.1 .
    AK292411 mRNA. Translation: BAF85100.1 .
    AK292498 mRNA. Translation: BAF85187.1 .
    AL355841 mRNA. Translation: CAB91065.1 .
    Z82201
    , AL023801 , AL031843 , AL118498 , Z97055 Genomic DNA. Translation: CAQ07046.1 .
    Z82201 , AL023801 , Z97055 Genomic DNA. Translation: CAQ07047.1 .
    Z97055
    , AL023801 , AL031843 , AL118498 , Z82201 Genomic DNA. Translation: CAQ09926.1 .
    Z97055 , AL023801 , Z82201 Genomic DNA. Translation: CAQ09928.1 .
    AL023801
    , AL031843 , AL118498 , Z82201 , Z97055 Genomic DNA. Translation: CAQ10020.1 .
    AL023801 , Z82201 , Z97055 Genomic DNA. Translation: CAQ10022.1 .
    AL031843
    , AL023801 , AL118498 , Z82201 , Z97055 Genomic DNA. Translation: CAQ10334.1 .
    AL118498
    , AL023801 , AL031843 , Z82201 , Z97055 Genomic DNA. Translation: CAQ11050.1 .
    BC039315 mRNA. Translation: AAH39315.1 .
    AB051459 mRNA. Translation: BAB33342.1 .
    CCDSi CCDS14049.1. [Q5THR3-1 ]
    CCDS14050.1. [Q5THR3-2 ]
    RefSeqi NP_073622.2. NM_022785.3. [Q5THR3-1 ]
    NP_942153.1. NM_198856.2. [Q5THR3-2 ]
    UniGenei Hs.658996.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1WLZ X-ray 1.60 A/B/C/D 1160-1260 [» ]
    ProteinModelPortali Q5THR3.
    SMRi Q5THR3. Positions 74-235, 304-361, 410-466, 777-803, 851-910, 971-1030, 1077-1131, 1160-1242, 1358-1384, 1440-1498.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122306. 4 interactions.

    PTM databases

    PhosphoSitei Q5THR3.

    Polymorphism databases

    DMDMi 74756634.

    Proteomic databases

    PaxDbi Q5THR3.
    PRIDEi Q5THR3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262726 ; ENSP00000262726 ; ENSG00000186976 . [Q5THR3-1 ]
    ENST00000396231 ; ENSP00000379533 ; ENSG00000186976 . [Q5THR3-2 ]
    GeneIDi 64800.
    KEGGi hsa:64800.
    UCSCi uc003bdy.2. human. [Q5THR3-1 ]
    uc003bea.2. human. [Q5THR3-6 ]
    uc010gzj.1. human. [Q5THR3-3 ]
    uc031rxz.1. human. [Q5THR3-4 ]

    Organism-specific databases

    CTDi 64800.
    GeneCardsi GC22M043924.
    H-InvDB HIX0016558.
    HGNCi HGNC:24204. EFCAB6.
    HPAi HPA003098.
    HPA018946.
    neXtProti NX_Q5THR3.
    PharmGKBi PA162384324.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46752.
    HOVERGENi HBG095997.
    InParanoidi Q5THR3.
    OMAi GMPMDDD.
    OrthoDBi EOG7SV0TX.
    PhylomeDBi Q5THR3.
    TreeFami TF329179.

    Miscellaneous databases

    ChiTaRSi EFCAB6. human.
    EvolutionaryTracei Q5THR3.
    GeneWikii EFCAB6.
    GenomeRNAii 64800.
    NextBioi 66882.
    PROi Q5THR3.

    Gene expression databases

    ArrayExpressi Q5THR3.
    Bgeei Q5THR3.
    CleanExi HS_EFCAB6.
    Genevestigatori Q5THR3.

    Family and domain databases

    Gene3Di 1.10.238.10. 11 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR015070. EF_hand_Ca-bd_contain_6.
    IPR002048. EF_hand_dom.
    [Graphical view ]
    Pfami PF08976. DUF1880. 1 hit.
    PF13499. EF-hand_7. 1 hit.
    [Graphical view ]
    SMARTi SM00054. EFh. 12 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 1 hit.
    PS50222. EF_HAND_2. 17 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "DJBP: a novel DJ-1-binding protein, negatively regulates the androgen receptor by recruiting histone deacetylase complex, and DJ-1 antagonizes this inhibition by abrogation of this complex."
      Niki T., Takahashi-Niki K., Taira T., Iguchi-Ariga S.M.M., Ariga H.
      Mol. Cancer Res. 1:247-261(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH PARK7 AND AR, VARIANT VAL-1059.
      Tissue: Testis.
    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 3), VARIANTS ALA-351; TYR-400; ALA-680 AND VAL-1059.
      Tissue: Lung and Testis.
    3. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
      Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
      Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    4. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 2), VARIANT VAL-1059.
      Tissue: Testis.
    6. "Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping."
      Hirosawa M., Nagase T., Murahashi Y., Kikuno R., Ohara O.
      DNA Res. 8:1-9(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 855-1501 (ISOFORM 5).
      Tissue: Brain.
    7. "Crystal structure of DJBP fragment which was obtained by limited proteolysis."
      Honbou K., Suzuki N.N., Horiuchi M., Taira T., Niki T., Ariga H., Inagaki F.
      Submitted (AUG-2005) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 1160-1260.

    Entry informationi

    Entry nameiEFCB6_HUMAN
    AccessioniPrimary (citable) accession number: Q5THR3
    Secondary accession number(s): A8K8P6
    , A8K8Y3, B0QYI4, B0QYI6, Q5U5T6, Q9BY88, Q9H5C4, Q9NSF5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 97 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3