ZC4H2_DANRE
ID ZC4H2_DANRE Reviewed; 224 AA.
AC Q7T3I0;
DT 24-JUL-2013, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 94.
DE RecName: Full=Zinc finger C4H2 domain-containing protein;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 127 homolog;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 127-like;
GN Name=zc4h2;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RX PubMed=15256591; DOI=10.1073/pnas.0403929101;
RA Amsterdam A., Nissen R.M., Sun Z., Swindell E.C., Farrington S.,
RA Hopkins N.;
RT "Identification of 315 genes essential for early zebrafish development.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12792-12797(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Embryo;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP FUNCTION.
RX PubMed=23623388; DOI=10.1016/j.ajhg.2013.03.021;
RA Hirata H., Nanda I., van Riesen A., McMichael G., Hu H., Hambrock M.,
RA Papon M.A., Fischer U., Marouillat S., Ding C., Alirol S., Bienek M.,
RA Preisler-Adams S., Grimme A., Seelow D., Webster R., Haan E., Maclennan A.,
RA Stenzel W., Yap T.Y., Gardner A., Nguyen L.S., Shaw M., Lebrun N.,
RA Haas S.A., Kress W., Haaf T., Schellenberger E., Chelly J., Viot G.,
RA Shaffer L.G., Rosenfeld J.A., Kramer N., Falk R., El-Khechen D.,
RA Escobar L.F., Hennekam R., Wieacker P., Hubner C., Ropers H.H., Gecz J.,
RA Schuelke M., Laumonnier F., Kalscheuer V.M.;
RT "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and
RT intellectual disability through impairment of central and peripheral
RT synaptic plasticity.";
RL Am. J. Hum. Genet. 92:681-695(2013).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=26056227; DOI=10.1093/hmg/ddv208;
RA May M., Hwang K.S., Miles J., Williams C., Niranjan T., Kahler S.G.,
RA Chiurazzi P., Steindl K., Van Der Spek P.J., Swagemakers S., Mueller J.,
RA Stefl S., Alexov E., Ryu J.I., Choi J.H., Kim H.T., Tarpey P., Neri G.,
RA Holloway L., Skinner C., Stevenson R.E., Dorsky R.I., Wang T.,
RA Schwartz C.E., Kim C.H.;
RT "ZC4H2, an XLID gene, is required for the generation of a specific subset
RT of CNS interneurons.";
RL Hum. Mol. Genet. 24:4848-4861(2015).
CC -!- FUNCTION: Plays a role in GABAergic and V2 interneurons differentiation
CC (PubMed:26056227). Involved in motoneuron development and in
CC neuromuscular junction formation (PubMed:23623388).
CC {ECO:0000269|PubMed:23623388}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26056227}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9NQZ6}. Postsynaptic cell membrane
CC {ECO:0000250|UniProtKB:Q9NQZ6}.
CC -!- DEVELOPMENTAL STAGE: Expressed throughout the developing central
CC nervous system, but excluded from the most medial ventricular zone
CC (PubMed:26056227). {ECO:0000269|PubMed:26056227}.
CC -!- DISRUPTION PHENOTYPE: Larva with TALEN-induced zc4h2 null mutations
CC show abnormally pectoral flexed fins, outward positioning of eyes,
CC continuous swimming movements and balance problems at 5 days post-
CC fertilization (dpf) (PubMed:26056227). Also exhibited an open mouth as
CC well as continuous jaw movements (PubMed:26056227). Display a reduction
CC in the number of V2 interneuron precursors in the hindbrain and spinal
CC cord at 24 hours post-fertilization (hpf). Display a reduction in the
CC number of GABAergic interneurons in the midbrain tegmentum at 35 hpf
CC (PubMed:26056227). {ECO:0000269|PubMed:26056227}.
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DR EMBL; AY648796; AAT68114.1; -; mRNA.
DR EMBL; CR812469; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC053110; AAH53110.1; -; mRNA.
DR RefSeq; NP_955936.1; NM_199642.1.
DR AlphaFoldDB; Q7T3I0; -.
DR SMR; Q7T3I0; -.
DR STRING; 7955.ENSDARP00000010952; -.
DR PaxDb; Q7T3I0; -.
DR Ensembl; ENSDART00000020908; ENSDARP00000010952; ENSDARG00000015314.
DR Ensembl; ENSDART00000185576; ENSDARP00000156257; ENSDARG00000112180.
DR GeneID; 323487; -.
DR KEGG; dre:323487; -.
DR CTD; 55906; -.
DR ZFIN; ZDB-GENE-030131-2207; zc4h2.
DR eggNOG; KOG4451; Eukaryota.
DR GeneTree; ENSGT00390000018389; -.
DR HOGENOM; CLU_067420_0_0_1; -.
DR InParanoid; Q7T3I0; -.
DR OMA; HADINVX; -.
DR OrthoDB; 1316216at2759; -.
DR PhylomeDB; Q7T3I0; -.
DR TreeFam; TF315275; -.
DR PRO; PR:Q7T3I0; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000015314; Expressed in cleaving embryo and 28 other tissues.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0045211; C:postsynaptic membrane; ISS:UniProtKB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0007399; P:nervous system development; IMP:UniProtKB.
DR GO; GO:0007528; P:neuromuscular junction development; IMP:UniProtKB.
DR GO; GO:0048666; P:neuron development; IMP:ZFIN.
DR GO; GO:0048665; P:neuron fate specification; IMP:ZFIN.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IMP:UniProtKB.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; IMP:UniProtKB.
DR InterPro; IPR044069; ZF_C4H2.
DR InterPro; IPR018482; Znf-C4H2.
DR PANTHER; PTHR31058; PTHR31058; 1.
DR Pfam; PF10146; zf-C4H2; 2.
DR PROSITE; PS51896; ZF_C4H2; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Coiled coil; Cytoplasm; Developmental protein;
KW Differentiation; Membrane; Metal-binding; Nucleus;
KW Postsynaptic cell membrane; Reference proteome; Synapse; Zinc; Zinc-finger.
FT CHAIN 1..224
FT /note="Zinc finger C4H2 domain-containing protein"
FT /id="PRO_0000423169"
FT ZN_FING 189..206
FT /note="C4H2-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01244"
FT REGION 166..185
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 204..224
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 12..97
FT /evidence="ECO:0000255"
FT COMPBIAS 168..182
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 224 AA; 26212 MW; A1101403DB8D756A CRC64;
MADEQEIMCK LENIKEIRNK TIQMEKIKSR LRTEFEALES EEKHLREYKQ EMDLLLQEKM
AHVEELRLIH ADINVMENTI KQSESDLNKL LESTRRLHDE YKPLKEHVDA LRMTLGLQRL
PDLSQEEEKL SLDYFEKQKA EWQTEPQEPP IPESLAAAAA AAQQLQAARK QDARQTATFR
QQPPPMKACL SCHQQIHRNA PICPLCKAKS RSRNPKKPKR KPDE
