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Q5JVL4

- EFHC1_HUMAN

UniProt

Q5JVL4 - EFHC1_HUMAN

Protein

EF-hand domain-containing protein 1

Gene

EFHC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (15 Feb 2005)
      Previous versions | rss
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    Functioni

    May enhance calcium influx through CACNA1E and stimulate programmed cell death.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein C-terminus binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    EF-hand domain-containing protein 1
    Alternative name(s):
    Myoclonin-1
    Gene namesi
    Name:EFHC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:16406. EFHC1.

    Subcellular locationi

    GO - Cellular componenti

    1. axoneme Source: UniProtKB
    2. neuronal cell body Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.2 Publications
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti77 – 771P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    Corresponds to variant rs149055334 [ dbSNP | Ensembl ].
    VAR_023619
    Natural varianti210 – 2101D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    VAR_023622
    Natural varianti221 – 2211R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    Corresponds to variant rs79761183 [ dbSNP | Ensembl ].
    VAR_023623
    Natural varianti229 – 2291F → L in EJM1; uncertain pathological significance; reduces substantially the cell death effect; reduces significantly the calcium influx; binds to CACNA1E. 3 Publications
    Corresponds to variant rs137852776 [ dbSNP | Ensembl ].
    VAR_023624
    Natural varianti253 – 2531D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    VAR_023625
    Natural varianti353 – 3531R → W in EJM1. 1 Publication
    VAR_043157
    Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741I → V Associated with susceptibility to JAE1. 1 Publication
    VAR_043154
    Natural varianti259 – 2591C → Y Associated with susceptibility to JAE1. 1 Publication
    VAR_043155

    Keywords - Diseasei

    Disease mutation, Epilepsy

    Organism-specific databases

    MIMi254770. phenotype.
    607631. phenotype.
    Orphaneti1941. Juvenile absence epilepsy.
    307. Juvenile myoclonic epilepsy.
    PharmGKBiPA27654.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 640640EF-hand domain-containing protein 1PRO_0000073877Add
    BLAST

    Proteomic databases

    MaxQBiQ5JVL4.
    PaxDbiQ5JVL4.
    PeptideAtlasiQ5JVL4.
    PRIDEiQ5JVL4.

    PTM databases

    PhosphoSiteiQ5JVL4.

    Expressioni

    Tissue specificityi

    Widely expressed. Not detected in lymphocytes.1 Publication

    Gene expression databases

    ArrayExpressiQ5JVL4.
    BgeeiQ5JVL4.
    CleanExiHS_EFHC1.
    GenevestigatoriQ5JVL4.

    Organism-specific databases

    HPAiCAB020814.
    HPA035307.

    Interactioni

    Subunit structurei

    Interacts with the C-terminus of CACNA1E.1 Publication

    Protein-protein interaction databases

    BioGridi125313. 2 interactions.
    IntActiQ5JVL4. 1 interaction.
    MINTiMINT-1484267.
    STRINGi9606.ENSP00000360107.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5JVL4.
    SMRiQ5JVL4. Positions 90-204, 235-367, 555-638.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini93 – 198106DM10 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini239 – 359121DM10 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini416 – 520105DM10 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini574 – 60936EF-handPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 3 DM10 domains.PROSITE-ProRule annotation
    Contains 1 EF-hand domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG282456.
    HOGENOMiHOG000265451.
    HOVERGENiHBG059646.
    InParanoidiQ5JVL4.
    OMAiCIENSQN.
    PhylomeDBiQ5JVL4.
    TreeFamiTF314504.

    Family and domain databases

    Gene3Di1.10.238.10. 1 hit.
    InterProiIPR010554. DUF1126.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR006602. Uncharacterised_DM10.
    [Graphical view]
    PfamiPF06565. DUF1126. 3 hits.
    [Graphical view]
    SMARTiSM00676. DM10. 3 hits.
    [Graphical view]
    PROSITEiPS51336. DM10. 3 hits.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5JVL4-1) [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

    MVSNPVHGLP FLPGTSFKDS TKTAFHRSQT LSYRNGYAIV RRPTVGIGGD    50
    RLQFNQLSQA ELDELASKAP VLTYGQPKQA PPADFIPAHV AFDKKVLKFD 100
    AYFQEDVPMS TEEQYRIRQV NIYYYLEDDS MSVIEPVVEN SGILQGKLIK 150
    RQRLAKNDRG DHYHWKDLNR GINITIYGKT FRVVDCDQFT QVFLESQGIE 200
    LNPPEKMALD PYTELRKQPL RKYVTPSDFD QLKQFLTFDK QVLRFYAIWD 250
    DTDSMYGECR TYIIHYYLMD DTVEIREVHE RNDGRDPFPL LMNRQRVPKV 300
    LVENAKNFPQ CVLEISDQEV LEWYTAKDFI VGKSLTILGR TFFIYDCDPF 350
    TRRYYKEKFG ITDLPRIDVS KREPPPVKQE LPPYNGFGLV EDSAQNCFAL 400
    IPKAPKKDVI KMLVNDNKVL RYLAVLESPI PEDKDRRFVF SYFLATDMIS 450
    IFEPPVRNSG IIGGKYLGRT KVVKPYSTVD NPVYYGPSDF FIGAVIEVFG 500
    HRFIILDTDE YVLKYMESNA AQYSPEALAS IQNHVRKREA PAPEAESKQT 550
    EKDPGVQELE ALIDTIQKQL KDHSCKDNIR EAFQIYDKEA SGYVDRDMFF 600
    KICESLNVPV DDSLVKELIR MCSHGEGKIN YYNFVRAFSN 640
    Length:640
    Mass (Da):73,990
    Last modified:February 15, 2005 - v1
    Checksum:i08F9E8BFEC42FCF3
    GO
    Isoform 2 (identifier: Q5JVL4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         243-278: LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV → SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL
         279-640: Missing.

    Show »
    Length:278
    Mass (Da):31,661
    Checksum:i806C5C56F5E294F9
    GO
    Isoform 3 (identifier: Q5JVL4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-21: MVSNPVHGLPFLPGTSFKDST → ML

    Note: No experimental confirmation available.

    Show »
    Length:621
    Mass (Da):72,021
    Checksum:iC289DD7386FF510B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti140 – 1401N → D in BAG60005. (PubMed:14702039)Curated
    Sequence conflicti399 – 3991A → T in BAA91628. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti77 – 771P → T in EJM1; associated with H-221; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    Corresponds to variant rs149055334 [ dbSNP | Ensembl ].
    VAR_023619
    Natural varianti159 – 1591R → W No effect on cell death; binds to CACNA1E. 2 Publications
    Corresponds to variant rs3804506 [ dbSNP | Ensembl ].
    VAR_023620
    Natural varianti174 – 1741I → V Associated with susceptibility to JAE1. 1 Publication
    VAR_043154
    Natural varianti182 – 1821R → H No effect on cell death; binds to CACNA1E. 3 Publications
    Corresponds to variant rs3804505 [ dbSNP | Ensembl ].
    VAR_023621
    Natural varianti210 – 2101D → N in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    VAR_023622
    Natural varianti221 – 2211R → H in EJM1; associated with T-77; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    Corresponds to variant rs79761183 [ dbSNP | Ensembl ].
    VAR_023623
    Natural varianti229 – 2291F → L in EJM1; uncertain pathological significance; reduces substantially the cell death effect; reduces significantly the calcium influx; binds to CACNA1E. 3 Publications
    Corresponds to variant rs137852776 [ dbSNP | Ensembl ].
    VAR_023624
    Natural varianti253 – 2531D → Y in EJM1; reduces substantially the cell death effect; reduces partly the calcium influx; binds to CACNA1E. 1 Publication
    VAR_023625
    Natural varianti259 – 2591C → Y Associated with susceptibility to JAE1. 1 Publication
    VAR_043155
    Natural varianti285 – 2851R → I.1 Publication
    Corresponds to variant rs17851771 [ dbSNP | Ensembl ].
    VAR_026531
    Natural varianti294 – 2941R → H.1 Publication
    Corresponds to variant rs1570624 [ dbSNP | Ensembl ].
    VAR_043156
    Natural varianti353 – 3531R → W in EJM1. 1 Publication
    VAR_043157
    Natural varianti357 – 3571E → K.
    Corresponds to variant rs505760 [ dbSNP | Ensembl ].
    VAR_048666
    Natural varianti394 – 3941A → S in a sporadic case of unclassified epilepsy. 1 Publication
    VAR_043158
    Natural varianti448 – 4481M → T.1 Publication
    Corresponds to variant rs1266787 [ dbSNP | Ensembl ].
    VAR_043159
    Natural varianti619 – 6191I → L No effect on cell death; binds to CACNA1E. 2 Publications
    Corresponds to variant rs17851770 [ dbSNP | Ensembl ].
    VAR_023626

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2121MVSNP…FKDST → ML in isoform 3. 1 PublicationVSP_046107Add
    BLAST
    Alternative sequencei243 – 27836LRFYA…EIREV → SDIGTTIGLLISKCDLHLLA KGLGSCIGNYFETLQL in isoform 2. 1 PublicationVSP_015894Add
    BLAST
    Alternative sequencei279 – 640362Missing in isoform 2. 1 PublicationVSP_015895Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY608689 mRNA. Translation: AAT67418.1.
    AY608690 mRNA. Translation: AAT67419.1.
    AK001328 mRNA. Translation: BAA91628.1.
    AK297632 mRNA. Translation: BAG60005.1.
    AL049611, AL136125 Genomic DNA. Translation: CAI19693.1.
    AL136125, AL049611 Genomic DNA. Translation: CAI20107.1.
    BC020210 mRNA. Translation: AAH20210.1.
    CCDSiCCDS4942.1. [Q5JVL4-1]
    CCDS55021.1. [Q5JVL4-3]
    RefSeqiNP_001165891.1. NM_001172420.1. [Q5JVL4-3]
    NP_060570.2. NM_018100.3. [Q5JVL4-1]
    UniGeneiHs.403171.

    Genome annotation databases

    EnsembliENST00000371068; ENSP00000360107; ENSG00000096093. [Q5JVL4-1]
    ENST00000480623; ENSP00000434498; ENSG00000096093. [Q5JVL4-2]
    ENST00000538167; ENSP00000444521; ENSG00000096093. [Q5JVL4-3]
    GeneIDi114327.
    KEGGihsa:114327.
    UCSCiuc003pap.4. human. [Q5JVL4-1]

    Polymorphism databases

    DMDMi74762202.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY608689 mRNA. Translation: AAT67418.1 .
    AY608690 mRNA. Translation: AAT67419.1 .
    AK001328 mRNA. Translation: BAA91628.1 .
    AK297632 mRNA. Translation: BAG60005.1 .
    AL049611 , AL136125 Genomic DNA. Translation: CAI19693.1 .
    AL136125 , AL049611 Genomic DNA. Translation: CAI20107.1 .
    BC020210 mRNA. Translation: AAH20210.1 .
    CCDSi CCDS4942.1. [Q5JVL4-1 ]
    CCDS55021.1. [Q5JVL4-3 ]
    RefSeqi NP_001165891.1. NM_001172420.1. [Q5JVL4-3 ]
    NP_060570.2. NM_018100.3. [Q5JVL4-1 ]
    UniGenei Hs.403171.

    3D structure databases

    ProteinModelPortali Q5JVL4.
    SMRi Q5JVL4. Positions 90-204, 235-367, 555-638.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125313. 2 interactions.
    IntActi Q5JVL4. 1 interaction.
    MINTi MINT-1484267.
    STRINGi 9606.ENSP00000360107.

    PTM databases

    PhosphoSitei Q5JVL4.

    Polymorphism databases

    DMDMi 74762202.

    Proteomic databases

    MaxQBi Q5JVL4.
    PaxDbi Q5JVL4.
    PeptideAtlasi Q5JVL4.
    PRIDEi Q5JVL4.

    Protocols and materials databases

    DNASUi 114327.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000371068 ; ENSP00000360107 ; ENSG00000096093 . [Q5JVL4-1 ]
    ENST00000480623 ; ENSP00000434498 ; ENSG00000096093 . [Q5JVL4-2 ]
    ENST00000538167 ; ENSP00000444521 ; ENSG00000096093 . [Q5JVL4-3 ]
    GeneIDi 114327.
    KEGGi hsa:114327.
    UCSCi uc003pap.4. human. [Q5JVL4-1 ]

    Organism-specific databases

    CTDi 114327.
    GeneCardsi GC06P052284.
    HGNCi HGNC:16406. EFHC1.
    HPAi CAB020814.
    HPA035307.
    MIMi 254770. phenotype.
    607631. phenotype.
    608815. gene.
    neXtProti NX_Q5JVL4.
    Orphaneti 1941. Juvenile absence epilepsy.
    307. Juvenile myoclonic epilepsy.
    PharmGKBi PA27654.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282456.
    HOGENOMi HOG000265451.
    HOVERGENi HBG059646.
    InParanoidi Q5JVL4.
    OMAi CIENSQN.
    PhylomeDBi Q5JVL4.
    TreeFami TF314504.

    Miscellaneous databases

    ChiTaRSi EFHC1. human.
    GeneWikii EFHC1.
    GenomeRNAii 114327.
    NextBioi 79065.
    PROi Q5JVL4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q5JVL4.
    Bgeei Q5JVL4.
    CleanExi HS_EFHC1.
    Genevestigatori Q5JVL4.

    Family and domain databases

    Gene3Di 1.10.238.10. 1 hit.
    InterProi IPR010554. DUF1126.
    IPR011992. EF-hand-dom_pair.
    IPR002048. EF_hand_dom.
    IPR006602. Uncharacterised_DM10.
    [Graphical view ]
    Pfami PF06565. DUF1126. 3 hits.
    [Graphical view ]
    SMARTi SM00676. DM10. 3 hits.
    [Graphical view ]
    PROSITEi PS51336. DM10. 3 hits.
    PS50222. EF_HAND_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 557-640 (ISOFORM 1), FUNCTION, INTERACTION WITH CACNA1E, TISSUE SPECIFICITY, VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253, CHARACTERIZATION OF VARIANTS EJM1 THR-77; ASN-210; HIS-221; LEU-229 AND TYR-253, VARIANTS TRP-159; HIS-182 AND LEU-619, CHARACTERIZATION OF VARIANTS TRP-159; HIS-182 AND LEU-619.
    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).
      Tissue: Brain.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [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), VARIANTS ILE-285 AND LEU-619.
      Tissue: Kidney.
    5. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO JUVENILE ABSENCE EPILEPSY, VARIANTS TRP-159; VAL-174; HIS-182; LEU-229; TYR-259; HIS-294; SER-394 AND THR-448.
    6. Cited for: VARIANTS EJM1 LEU-229 AND TRP-353, VARIANT HIS-182.

    Entry informationi

    Entry nameiEFHC1_HUMAN
    AccessioniPrimary (citable) accession number: Q5JVL4
    Secondary accession number(s): B4DMU3
    , F5GZD8, Q5XKM4, Q6E1U7, Q6E1U8, Q8WUL2, Q9NVW6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: February 15, 2005
    Last modified: October 1, 2014
    This is version 101 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 6
      Human chromosome 6: 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