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Q9Y2Z9

- COQ6_HUMAN

UniProt

Q9Y2Z9 - COQ6_HUMAN

Protein

Ubiquinone biosynthesis monooxygenase COQ6

Gene

COQ6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 130 (01 Oct 2014)
      Sequence version 2 (28 Nov 2002)
      Previous versions | rss
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    Functioni

    Cofactori

    FAD.Curated

    Pathwayi

    GO - Molecular functioni

    1. flavin adenine dinucleotide binding Source: InterPro
    2. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen Source: InterPro

    GO - Biological processi

    1. small molecule metabolic process Source: Reactome
    2. ubiquinone biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Ubiquinone biosynthesis

    Keywords - Ligandi

    FAD, Flavoprotein

    Enzyme and pathway databases

    ReactomeiREACT_160111. Ubiquinol biosynthesis.
    UniPathwayiUPA00232.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ubiquinone biosynthesis monooxygenase COQ6 (EC:1.14.13.-)
    Alternative name(s):
    Coenzyme Q10 monooxygenase 6
    Gene namesi
    Name:COQ6
    ORF Names:CGI-10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:20233. COQ6.

    Subcellular locationi

    Golgi apparatus. Cell projection By similarity
    Note: Localizes to podocyte cell processes.By similarity

    GO - Cellular componenti

    1. cell projection Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB-SubCell
    3. mitochondrion Source: LIFEdb

    Keywords - Cellular componenti

    Cell projection, Golgi apparatus

    Pathology & Biotechi

    Involvement in diseasei

    Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551G → R in COQ10D6. 1 Publication
    VAR_068216
    Natural varianti353 – 3531A → D in COQ10D6. 1 Publication
    VAR_068218

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi614650. phenotype.
    Orphaneti280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
    PharmGKBiPA134940980.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 468468Ubiquinone biosynthesis monooxygenase COQ6PRO_0000207583Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2Z9.
    PaxDbiQ9Y2Z9.
    PRIDEiQ9Y2Z9.

    PTM databases

    PhosphoSiteiQ9Y2Z9.

    Expressioni

    Tissue specificityi

    Widely epressed.1 Publication

    Gene expression databases

    ArrayExpressiQ9Y2Z9.
    BgeeiQ9Y2Z9.
    CleanExiHS_COQ6.
    GenevestigatoriQ9Y2Z9.

    Organism-specific databases

    HPAiHPA051371.

    Interactioni

    Subunit structurei

    Interacts with ADCK4 and COQ7.1 Publication

    Protein-protein interaction databases

    BioGridi119212. 7 interactions.
    IntActiQ9Y2Z9. 2 interactions.
    MINTiMINT-1391142.
    STRINGi9606.ENSP00000333946.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2Z9.
    SMRiQ9Y2Z9. Positions 35-435.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the UbiH/COQ6 family.Curated

    Phylogenomic databases

    eggNOGiCOG0654.
    HOGENOMiHOG000255772.
    HOVERGENiHBG029533.
    InParanoidiQ9Y2Z9.
    KOiK06126.
    OMAiNSPVRKF.
    OrthoDBiEOG7H793X.
    PhylomeDBiQ9Y2Z9.
    TreeFamiTF105772.

    Family and domain databases

    InterProiIPR002938. mOase_FAD-bd.
    IPR003042. Rng_hydrolase-like.
    IPR018168. Ubi_Hdrlase_CS.
    IPR010971. Ubi_Hdrxlases.
    IPR000689. UbQ_biosynth_mOase.
    [Graphical view]
    PfamiPF01494. FAD_binding_3. 2 hits.
    [Graphical view]
    PRINTSiPR00420. RNGMNOXGNASE.
    TIGRFAMsiTIGR01989. COQ6. 1 hit.
    TIGR01988. Ubi-OHases. 1 hit.
    PROSITEiPS01304. UBIH. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2Z9-1) [UniParc]FASTAAdd to Basket

    Also known as: a

    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

    MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM    50
    ACALGYDIHF HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS 100
    FGAWDHICNM RYRAFRRMQV WDACSEALIM FDKDNLDDMG YIVENDVIMH 150
    ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF PMADSSPWVH ITLGDGSTFQ 200
    TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE ATENNVAWQR 250
    FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD 300
    ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL 350
    GHAAEYVRPR VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG 400
    KDLGSVSHLT GYETERQRHN TALLAATDLL KRLYSTSASP LVLLRTWGLQ 450
    ATNAVSPLKE QIMAFASK 468
    Length:468
    Mass (Da):50,870
    Last modified:November 28, 2002 - v2
    Checksum:i9613629BA501B60B
    GO
    Isoform 2 (identifier: Q9Y2Z9-2) [UniParc]FASTAAdd to Basket

    Also known as: b

    The sequence of this isoform differs from the canonical sequence as follows:
         2-119: AARLVSRCGA...MRYRAFRRMQ → IFTFMTRKSC...FPLALQRFSV
         460-461: Missing.

    Show »
    Length:391
    Mass (Da):42,874
    Checksum:iAC06474D2687E80E
    GO
    Isoform 3 (identifier: Q9Y2Z9-3) [UniParc]FASTAAdd to Basket

    Also known as: c

    The sequence of this isoform differs from the canonical sequence as follows:
         2-54: AARLVSRCGA...LVGAAMACAL → RGQGPPLSSFGVWLASRAASDPSRPRRQ

    Show »
    Length:443
    Mass (Da):48,593
    Checksum:i61F3E8B19575633D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti22 – 309VSWRRWSGA → AVLAQVVRR in AAD27719. (PubMed:10810093)Curated
    Sequence conflicti317 – 3171A → P in AAD27719. (PubMed:10810093)Curated
    Sequence conflicti336 – 3372AR → PW in AAD27719. (PubMed:10810093)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti255 – 2551G → R in COQ10D6. 1 Publication
    VAR_068216
    Natural varianti287 – 2871E → K.1 Publication
    Corresponds to variant rs17851169 [ dbSNP | Ensembl ].
    VAR_068217
    Natural varianti300 – 3001D → Y.
    Corresponds to variant rs1044640 [ dbSNP | Ensembl ].
    VAR_052691
    Natural varianti339 – 3391D → V.
    Corresponds to variant rs2074930 [ dbSNP | Ensembl ].
    VAR_033813
    Natural varianti353 – 3531A → D in COQ10D6. 1 Publication
    VAR_068218
    Natural varianti395 – 3951T → M.
    Corresponds to variant rs34746680 [ dbSNP | Ensembl ].
    VAR_033814
    Natural varianti406 – 4061V → M.1 Publication
    Corresponds to variant rs8500 [ dbSNP | Ensembl ].
    VAR_014953

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2 – 119118AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2. 1 PublicationVSP_044060Add
    BLAST
    Alternative sequencei2 – 5453AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3. 1 PublicationVSP_044061Add
    BLAST
    Alternative sequencei460 – 4612Missing in isoform 2. 1 PublicationVSP_044062

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF132944 mRNA. Translation: AAD27719.1.
    AK296040 mRNA. Translation: BAH12244.1.
    BX248000 mRNA. Translation: CAD62332.1.
    AK222965 mRNA. Translation: BAD96685.1.
    AC005480 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81148.1.
    BC014181 mRNA. Translation: AAH14181.1.
    BC014483 mRNA. Translation: AAH14483.1.
    CCDSiCCDS9823.1. [Q9Y2Z9-1]
    CCDS9824.2. [Q9Y2Z9-3]
    RefSeqiNP_872282.1. NM_182476.2. [Q9Y2Z9-1]
    NP_872286.2. NM_182480.2. [Q9Y2Z9-3]
    UniGeneiHs.131555.

    Genome annotation databases

    EnsembliENST00000334571; ENSP00000333946; ENSG00000119723. [Q9Y2Z9-1]
    ENST00000394026; ENSP00000377594; ENSG00000119723. [Q9Y2Z9-3]
    GeneIDi51004.
    KEGGihsa:51004.
    UCSCiuc001xpe.3. human. [Q9Y2Z9-2]
    uc001xph.3. human. [Q9Y2Z9-1]
    uc010tuk.2. human. [Q9Y2Z9-3]

    Polymorphism databases

    DMDMi26006952.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF132944 mRNA. Translation: AAD27719.1 .
    AK296040 mRNA. Translation: BAH12244.1 .
    BX248000 mRNA. Translation: CAD62332.1 .
    AK222965 mRNA. Translation: BAD96685.1 .
    AC005480 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW81148.1 .
    BC014181 mRNA. Translation: AAH14181.1 .
    BC014483 mRNA. Translation: AAH14483.1 .
    CCDSi CCDS9823.1. [Q9Y2Z9-1 ]
    CCDS9824.2. [Q9Y2Z9-3 ]
    RefSeqi NP_872282.1. NM_182476.2. [Q9Y2Z9-1 ]
    NP_872286.2. NM_182480.2. [Q9Y2Z9-3 ]
    UniGenei Hs.131555.

    3D structure databases

    ProteinModelPortali Q9Y2Z9.
    SMRi Q9Y2Z9. Positions 35-435.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119212. 7 interactions.
    IntActi Q9Y2Z9. 2 interactions.
    MINTi MINT-1391142.
    STRINGi 9606.ENSP00000333946.

    PTM databases

    PhosphoSitei Q9Y2Z9.

    Polymorphism databases

    DMDMi 26006952.

    Proteomic databases

    MaxQBi Q9Y2Z9.
    PaxDbi Q9Y2Z9.
    PRIDEi Q9Y2Z9.

    Protocols and materials databases

    DNASUi 51004.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334571 ; ENSP00000333946 ; ENSG00000119723 . [Q9Y2Z9-1 ]
    ENST00000394026 ; ENSP00000377594 ; ENSG00000119723 . [Q9Y2Z9-3 ]
    GeneIDi 51004.
    KEGGi hsa:51004.
    UCSCi uc001xpe.3. human. [Q9Y2Z9-2 ]
    uc001xph.3. human. [Q9Y2Z9-1 ]
    uc010tuk.2. human. [Q9Y2Z9-3 ]

    Organism-specific databases

    CTDi 51004.
    GeneCardsi GC14P074416.
    HGNCi HGNC:20233. COQ6.
    HPAi HPA051371.
    MIMi 614647. gene.
    614650. phenotype.
    neXtProti NX_Q9Y2Z9.
    Orphaneti 280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
    PharmGKBi PA134940980.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0654.
    HOGENOMi HOG000255772.
    HOVERGENi HBG029533.
    InParanoidi Q9Y2Z9.
    KOi K06126.
    OMAi NSPVRKF.
    OrthoDBi EOG7H793X.
    PhylomeDBi Q9Y2Z9.
    TreeFami TF105772.

    Enzyme and pathway databases

    UniPathwayi UPA00232 .
    Reactomei REACT_160111. Ubiquinol biosynthesis.

    Miscellaneous databases

    GenomeRNAii 51004.
    NextBioi 53468.
    PROi Q9Y2Z9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2Z9.
    Bgeei Q9Y2Z9.
    CleanExi HS_COQ6.
    Genevestigatori Q9Y2Z9.

    Family and domain databases

    InterProi IPR002938. mOase_FAD-bd.
    IPR003042. Rng_hydrolase-like.
    IPR018168. Ubi_Hdrlase_CS.
    IPR010971. Ubi_Hdrxlases.
    IPR000689. UbQ_biosynth_mOase.
    [Graphical view ]
    Pfami PF01494. FAD_binding_3. 2 hits.
    [Graphical view ]
    PRINTSi PR00420. RNGMNOXGNASE.
    TIGRFAMsi TIGR01989. COQ6. 1 hit.
    TIGR01988. Ubi-OHases. 1 hit.
    PROSITEi PS01304. UBIH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [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] (ISOFORM 3).
      Tissue: Subthalamic nucleus.
    3. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Fetal liver.
    4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT MET-406.
      Tissue: Heart.
    5. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "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 LYS-287.
      Tissue: Colon and Lung.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: INTERACTION WITH ADCK4 AND COQ7.
    10. "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."
      Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V., Killen P.D., Raphael Y., Ashraf S., Ovunc B., Schoeb D.S., McLaughlin H.M., Airik R., Vlangos C.N.
      , Gbadegesin R., Hinkes B., Saisawat P., Trevisson E., Doimo M., Casarin A., Pertegato V., Giorgi G., Prokisch H., Rotig A., Nurnberg G., Becker C., Wang S., Ozaltin F., Topaloglu R., Bakkaloglu A., Bakkaloglu S.A., Muller D., Beissert A., Mir S., Berdeli A., Varpizen S., Zenker M., Matejas V., Santos-Ocana C., Navas P., Kusakabe T., Kispert A., Akman S., Soliman N.A., Krick S., Mundel P., Reiser J., Nurnberg P., Clarke C.F., Wiggins R.C., Faul C., Hildebrandt F.
      J. Clin. Invest. 121:2013-2024(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS COQ10D6 ARG-255 AND ASP-353, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.

    Entry informationi

    Entry nameiCOQ6_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2Z9
    Secondary accession number(s): B7Z3K8
    , Q53GG6, Q86U30, Q96CA1, Q96CK2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: November 28, 2002
    Last modified: October 1, 2014
    This is version 130 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3