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Q9NQZ6

- ZC4H2_HUMAN

UniProt

Q9NQZ6 - ZC4H2_HUMAN

Protein

Zinc finger C4H2 domain-containing protein

Gene

ZC4H2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May play a role in neuronal development and in neuromuscular junction formation.1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri189 – 20618C4H2-typeAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. nervous system development Source: UniProtKB
    2. neuromuscular junction development Source: UniProtKB
    3. spinal cord motor neuron differentiation Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger C4H2 domain-containing protein
    Alternative name(s):
    Hepatocellular carcinoma-associated antigen 127
    Gene namesi
    Name:ZC4H2
    Synonyms:HCA127, KIAA1166
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:24931. ZC4H2.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication. Cell junctionsynapsepostsynaptic cell membrane 1 Publication
    Note: Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites.

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. cytoplasm Source: UniProtKB
    3. nucleus Source: UniProtKB
    4. postsynaptic membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cytoplasm, Membrane, Nucleus, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Involvement in diseasei

    Wieacker-Wolf syndrome (WRWF) [MIM:314580]: A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631V → L in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069621
    Natural varianti198 – 1981R → Q in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069622
    Natural varianti201 – 2011P → S in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069623
    Natural varianti213 – 2131R → W in WRWF. 1 Publication
    VAR_069624

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi314580. phenotype.
    Orphaneti3454. Intellectual disability-developmental delay-contractures syndrome.
    PharmGKBiPA164727643.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 224224Zinc finger C4H2 domain-containing proteinPRO_0000083911Add
    BLAST

    Proteomic databases

    MaxQBiQ9NQZ6.
    PaxDbiQ9NQZ6.
    PRIDEiQ9NQZ6.

    PTM databases

    PhosphoSiteiQ9NQZ6.

    Expressioni

    Tissue specificityi

    Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ9NQZ6.
    BgeeiQ9NQZ6.
    CleanExiHS_ZC4H2.
    GenevestigatoriQ9NQZ6.

    Organism-specific databases

    HPAiHPA049584.

    Interactioni

    Protein-protein interaction databases

    BioGridi120992. 2 interactions.
    IntActiQ9NQZ6. 2 interactions.
    MINTiMINT-1458694.
    STRINGi9606.ENSP00000363972.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQZ6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili11 – 10494Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 C4H2-type zinc finger.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri189 – 20618C4H2-typeAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG247527.
    HOGENOMiHOG000008107.
    HOVERGENiHBG051885.
    InParanoidiQ9NQZ6.
    OMAiADINAME.
    OrthoDBiEOG7DRJ4F.
    PhylomeDBiQ9NQZ6.
    TreeFamiTF315275.

    Family and domain databases

    InterProiIPR018482. Znf-C4H2.
    [Graphical view]
    PfamiPF10146. zf-C4H2. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQZ6-1) [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

    MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ    50
    EMDLLLQEKM AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE 100
    YKPLKEHVDA LRMTLGLQRL PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP 150
    IPESLAAAAA AAQQLQVARK QDTRQTATFR QQPPPMKACL SCHQQIHRNA 200
    PICPLCKAKS RSRNPKKPKR KQDE 224
    Length:224
    Mass (Da):26,244
    Last modified:October 1, 2000 - v1
    Checksum:iB8392407FB4A2012
    GO
    Isoform 2 (identifier: Q9NQZ6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         133-133: D → E
         134-224: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:133
    Mass (Da):15,886
    Checksum:i63578CC8A2BE1FC1
    GO
    Isoform 3 (identifier: Q9NQZ6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-23: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:201
    Mass (Da):23,511
    Checksum:iAC9969EFA7DC4E87
    GO
    Isoform 4 (identifier: Q9NQZ6-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         133-224: DYFEKQKAEW...PKKPKRKQDE → EPACHVTSKF...SRMNKEREST

    Note: No experimental confirmation available.

    Show »
    Length:176
    Mass (Da):20,643
    Checksum:i2D84A7C99B29EB56
    GO
    Isoform 5 (identifier: Q9NQZ6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: MADEQEIMCKLESIKEI → MIHFHLIFLYVA

    Note: No experimental confirmation available.

    Show »
    Length:219
    Mass (Da):25,738
    Checksum:i0885738789AE41B7
    GO

    Sequence cautioni

    The sequence BAA86480.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti27 – 271I → V in BAG53957. 1 PublicationCurated
    Sequence conflicti52 – 521M → T in BAG53957. 1 PublicationCurated
    Sequence conflicti150 – 1501P → S in BAD96428. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631V → L in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069621
    Natural varianti198 – 1981R → Q in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069622
    Natural varianti201 – 2011P → S in WRWF; causes a decrease in synapse number and density. 1 Publication
    VAR_069623
    Natural varianti213 – 2131R → W in WRWF. 1 Publication
    VAR_069624

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2323Missing in isoform 3. 1 PublicationVSP_013469Add
    BLAST
    Alternative sequencei1 – 1717MADEQ…SIKEI → MIHFHLIFLYVA in isoform 5. 1 PublicationVSP_047588Add
    BLAST
    Alternative sequencei133 – 22492DYFEK…RKQDE → EPACHVTSKFTGMHLYALFA RPRVGPGTPKSRNGSRMNKE REST in isoform 4. 1 PublicationVSP_042513Add
    BLAST
    Alternative sequencei133 – 1331D → E in isoform 2. 1 PublicationVSP_008517
    Alternative sequencei134 – 22491Missing in isoform 2. 1 PublicationVSP_008518Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF270491 mRNA. Translation: AAF75787.1.
    AB032992 mRNA. Translation: BAA86480.1. Different initiation.
    AK022807 mRNA. Translation: BAB14252.1.
    AK022918 mRNA. Translation: BAB14308.1.
    AK315485 mRNA. Translation: BAG37869.1.
    AK123763 mRNA. Translation: BAG53957.1.
    AK293570 mRNA. Translation: BAG57041.1.
    AK222708 mRNA. Translation: BAD96428.1.
    AL355606 Genomic DNA. No translation available.
    CH471132 Genomic DNA. Translation: EAX05408.1.
    CH471132 Genomic DNA. Translation: EAX05409.1.
    BC004411 mRNA. Translation: AAH04411.1.
    CCDSiCCDS14380.1. [Q9NQZ6-1]
    CCDS55431.1. [Q9NQZ6-3]
    CCDS55432.1. [Q9NQZ6-4]
    RefSeqiNP_001171503.1. NM_001178032.2. [Q9NQZ6-3]
    NP_001171504.1. NM_001178033.2. [Q9NQZ6-4]
    NP_001230733.1. NM_001243804.1. [Q9NQZ6-3]
    NP_061154.1. NM_018684.3. [Q9NQZ6-1]
    UniGeneiHs.28249.

    Genome annotation databases

    EnsembliENST00000337990; ENSP00000338650; ENSG00000126970. [Q9NQZ6-3]
    ENST00000374839; ENSP00000363972; ENSG00000126970. [Q9NQZ6-1]
    ENST00000447788; ENSP00000399126; ENSG00000126970. [Q9NQZ6-4]
    GeneIDi55906.
    KEGGihsa:55906.
    UCSCiuc004dvu.3. human. [Q9NQZ6-1]
    uc004dvw.2. human. [Q9NQZ6-2]
    uc011mow.2. human. [Q9NQZ6-4]

    Polymorphism databases

    DMDMi41688815.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF270491 mRNA. Translation: AAF75787.1 .
    AB032992 mRNA. Translation: BAA86480.1 . Different initiation.
    AK022807 mRNA. Translation: BAB14252.1 .
    AK022918 mRNA. Translation: BAB14308.1 .
    AK315485 mRNA. Translation: BAG37869.1 .
    AK123763 mRNA. Translation: BAG53957.1 .
    AK293570 mRNA. Translation: BAG57041.1 .
    AK222708 mRNA. Translation: BAD96428.1 .
    AL355606 Genomic DNA. No translation available.
    CH471132 Genomic DNA. Translation: EAX05408.1 .
    CH471132 Genomic DNA. Translation: EAX05409.1 .
    BC004411 mRNA. Translation: AAH04411.1 .
    CCDSi CCDS14380.1. [Q9NQZ6-1 ]
    CCDS55431.1. [Q9NQZ6-3 ]
    CCDS55432.1. [Q9NQZ6-4 ]
    RefSeqi NP_001171503.1. NM_001178032.2. [Q9NQZ6-3 ]
    NP_001171504.1. NM_001178033.2. [Q9NQZ6-4 ]
    NP_001230733.1. NM_001243804.1. [Q9NQZ6-3 ]
    NP_061154.1. NM_018684.3. [Q9NQZ6-1 ]
    UniGenei Hs.28249.

    3D structure databases

    ProteinModelPortali Q9NQZ6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120992. 2 interactions.
    IntActi Q9NQZ6. 2 interactions.
    MINTi MINT-1458694.
    STRINGi 9606.ENSP00000363972.

    PTM databases

    PhosphoSitei Q9NQZ6.

    Polymorphism databases

    DMDMi 41688815.

    Proteomic databases

    MaxQBi Q9NQZ6.
    PaxDbi Q9NQZ6.
    PRIDEi Q9NQZ6.

    Protocols and materials databases

    DNASUi 55906.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000337990 ; ENSP00000338650 ; ENSG00000126970 . [Q9NQZ6-3 ]
    ENST00000374839 ; ENSP00000363972 ; ENSG00000126970 . [Q9NQZ6-1 ]
    ENST00000447788 ; ENSP00000399126 ; ENSG00000126970 . [Q9NQZ6-4 ]
    GeneIDi 55906.
    KEGGi hsa:55906.
    UCSCi uc004dvu.3. human. [Q9NQZ6-1 ]
    uc004dvw.2. human. [Q9NQZ6-2 ]
    uc011mow.2. human. [Q9NQZ6-4 ]

    Organism-specific databases

    CTDi 55906.
    GeneCardsi GC0XM064136.
    HGNCi HGNC:24931. ZC4H2.
    HPAi HPA049584.
    MIMi 300897. gene.
    314580. phenotype.
    neXtProti NX_Q9NQZ6.
    Orphaneti 3454. Intellectual disability-developmental delay-contractures syndrome.
    PharmGKBi PA164727643.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG247527.
    HOGENOMi HOG000008107.
    HOVERGENi HBG051885.
    InParanoidi Q9NQZ6.
    OMAi ADINAME.
    OrthoDBi EOG7DRJ4F.
    PhylomeDBi Q9NQZ6.
    TreeFami TF315275.

    Miscellaneous databases

    ChiTaRSi ZC4H2. human.
    GeneWikii KIAA1166.
    GenomeRNAii 55906.
    NextBioi 35470343.
    PROi Q9NQZ6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQZ6.
    Bgeei Q9NQZ6.
    CleanExi HS_ZC4H2.
    Genevestigatori Q9NQZ6.

    Family and domain databases

    InterProi IPR018482. Znf-C4H2.
    [Graphical view ]
    Pfami PF10146. zf-C4H2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Large scale identification of human hepatocellular carcinoma-associated antigens by autoantibodies."
      Wang Y., Han K.-J., Pang X.-W., Vaughan H.A., Qu W., Dong X.-Y., Peng J.-R., Zhao H.-T., Rui J.-A., Leng X.-S., Cebon J., Burgess A.W., Chen W.-F.
      J. Immunol. 169:1102-1109(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Hepatoma.
    2. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
      Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
      DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    3. "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; 3; 4 AND 5).
      Tissue: Cerebellum, Neuroblastoma and Teratocarcinoma.
    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).
      Tissue: Colon.
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [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).
      Tissue: Pancreas.
    8. Cited for: INVOLVEMENT IN WRWF, VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213, CHARACTERIZATION OF VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiZC4H2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQZ6
    Secondary accession number(s): B2RDC2
    , B3KVZ5, B4DED0, E7EM74, G3V1L3, Q53H73, Q5JTF9, Q9H9C3, Q9H9H7, Q9ULQ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2003
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 103 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 X
      Human chromosome X: 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