ZC4H2_MOUSE
ID ZC4H2_MOUSE Reviewed; 224 AA.
AC Q68FG0; B1AUU6; Q3TSJ9; Q3U274; Q504M3; Q6ZPW6;
DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2004, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Zinc finger C4H2 domain-containing protein;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 127 homolog;
GN Name=Zc4h2; Synonyms=Hca127, Kiaa1166;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryonic tail;
RX PubMed=14621295; DOI=10.1093/dnares/10.4.167;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: III.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:167-180(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J, and NOD; TISSUE=Dendritic cell;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Embryonic brain, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
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).
CC -!- FUNCTION: Plays a role in interneurons differentiation. Involved in
CC neuronal development and in neuromuscular junction formation.
CC {ECO:0000250|UniProtKB:Q9NQZ6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9NQZ6}. Nucleus
CC {ECO:0000250|UniProtKB:Q9NQZ6}. Postsynaptic cell membrane
CC {ECO:0000250|UniProtKB:Q9NQZ6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q68FG0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q68FG0-2; Sequence=VSP_013470;
CC -!- TISSUE SPECIFICITY: Expressed in embryonic and adult brain and spinal
CC cord. {ECO:0000269|PubMed:23623388}.
CC -!- DEVELOPMENTAL STAGE: In all brain areas, expression levels are high
CC during embryonic development and decrease postanatally.
CC {ECO:0000269|PubMed:23623388}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC98112.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK129302; BAC98112.1; ALT_INIT; mRNA.
DR EMBL; AK155445; BAE33268.1; -; mRNA.
DR EMBL; AK162005; BAE36676.1; -; mRNA.
DR EMBL; AL671982; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC079862; AAH79862.1; -; mRNA.
DR EMBL; BC094942; AAH94942.1; -; mRNA.
DR EMBL; BC119285; AAI19286.1; -; mRNA.
DR EMBL; BC119311; AAI19312.1; -; mRNA.
DR CCDS; CCDS30284.1; -. [Q68FG0-1]
DR CCDS; CCDS81153.1; -. [Q68FG0-2]
DR RefSeq; NP_001003916.1; NM_001003916.2. [Q68FG0-1]
DR RefSeq; NP_001276625.1; NM_001289696.1.
DR RefSeq; NP_001276626.1; NM_001289697.1. [Q68FG0-2]
DR AlphaFoldDB; Q68FG0; -.
DR SMR; Q68FG0; -.
DR BioGRID; 232785; 1.
DR IntAct; Q68FG0; 1.
DR STRING; 10090.ENSMUSP00000041236; -.
DR PhosphoSitePlus; Q68FG0; -.
DR EPD; Q68FG0; -.
DR PaxDb; Q68FG0; -.
DR PRIDE; Q68FG0; -.
DR ProteomicsDB; 302114; -. [Q68FG0-1]
DR ProteomicsDB; 302115; -. [Q68FG0-2]
DR Antibodypedia; 27070; 111 antibodies from 19 providers.
DR DNASU; 245522; -.
DR Ensembl; ENSMUST00000044382; ENSMUSP00000041236; ENSMUSG00000035062. [Q68FG0-1]
DR Ensembl; ENSMUST00000119640; ENSMUSP00000113689; ENSMUSG00000035062. [Q68FG0-2]
DR GeneID; 245522; -.
DR KEGG; mmu:245522; -.
DR UCSC; uc009ttz.2; mouse. [Q68FG0-1]
DR UCSC; uc012hmh.2; mouse. [Q68FG0-2]
DR CTD; 55906; -.
DR MGI; MGI:2679294; Zc4h2.
DR VEuPathDB; HostDB:ENSMUSG00000035062; -.
DR eggNOG; KOG4451; Eukaryota.
DR GeneTree; ENSGT00390000018389; -.
DR HOGENOM; CLU_067420_0_0_1; -.
DR InParanoid; Q68FG0; -.
DR OMA; MQKAEWR; -.
DR OrthoDB; 1316216at2759; -.
DR PhylomeDB; Q68FG0; -.
DR TreeFam; TF315275; -.
DR BioGRID-ORCS; 245522; 4 hits in 73 CRISPR screens.
DR PRO; PR:Q68FG0; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; Q68FG0; protein.
DR Bgee; ENSMUSG00000035062; Expressed in superior cervical ganglion and 215 other tissues.
DR ExpressionAtlas; Q68FG0; baseline and differential.
DR Genevisible; Q68FG0; MM.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; IDA:MGI.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0045211; C:postsynaptic membrane; ISS:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; ISO:MGI.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0007399; P:nervous system development; ISS:UniProtKB.
DR GO; GO:0007528; P:neuromuscular junction development; ISS:UniProtKB.
DR GO; GO:0003358; P:noradrenergic neuron development; IMP:MGI.
DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IGI:MGI.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; ISS:UniProtKB.
DR GO; GO:0006513; P:protein monoubiquitination; IGI:MGI.
DR GO; GO:2000677; P:regulation of transcription regulatory region DNA binding; IGI:MGI.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; ISS: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 Alternative splicing; Cell membrane; Coiled coil; Cytoplasm;
KW Developmental protein; 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_0000083912"
FT ZN_FING 189..206
FT /note="C4H2-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01244"
FT COILED 11..104
FT /evidence="ECO:0000255"
FT VAR_SEQ 76..82
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14621295"
FT /id="VSP_013470"
FT CONFLICT 50
FT /note="Q -> R (in Ref. 4; AAH94942)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="N -> Y (in Ref. 2; BAE33268)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 224 AA; 26244 MW; B8392407FB4A2012 CRC64;
MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ EMDLLLQEKM
AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE YKPLKEHVDA LRMTLGLQRL
PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP IPESLAAAAA AAQQLQVARK QDTRQTATFR
QQPPPMKACL SCHQQIHRNA PICPLCKAKS RSRNPKKPKR KQDE
