ZIC4_HUMAN
ID ZIC4_HUMAN Reviewed; 334 AA.
AC Q8N9L1; A0AVA2; B2RMQ8; B4DF89; B7Z2L2; C9J7D5; J3KQG1; Q4G157; Q9BZ94;
DT 22-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 3.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Zinc finger protein ZIC 4;
DE AltName: Full=Zinc finger protein of the cerebellum 4;
GN Name=ZIC4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5).
RC TISSUE=Brain, and Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 25-334 (ISOFORM 2).
RC TISSUE=Medulloblastoma;
RA Warder D.E.;
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Binds to DNA. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8N9L1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9L1-2; Sequence=VSP_017066, VSP_017067;
CC Name=3;
CC IsoId=Q8N9L1-3; Sequence=VSP_044484;
CC Name=4;
CC IsoId=Q8N9L1-4; Sequence=VSP_045529;
CC Name=5;
CC IsoId=Q8N9L1-5; Sequence=VSP_046072;
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to an intron retention.
CC {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 is the initiator. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH29507.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 229.; Evidence={ECO:0000305};
CC Sequence=AAK06845.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK056262; BAG51660.1; -; mRNA.
DR EMBL; AK094286; BAC04322.1; -; mRNA.
DR EMBL; AK293981; BAG57350.1; -; mRNA.
DR EMBL; AK294831; BAH11898.1; -; mRNA.
DR EMBL; DA218617; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC092959; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029507; AAH29507.1; ALT_SEQ; mRNA.
DR EMBL; BC126267; AAI26268.1; -; mRNA.
DR EMBL; BC136339; AAI36340.1; -; mRNA.
DR EMBL; AF332509; AAK06845.1; ALT_INIT; mRNA.
DR CCDS; CCDS43160.1; -. [Q8N9L1-1]
DR CCDS; CCDS54652.1; -. [Q8N9L1-3]
DR CCDS; CCDS54653.1; -. [Q8N9L1-5]
DR CCDS; CCDS58857.1; -. [Q8N9L1-4]
DR RefSeq; NP_001161850.1; NM_001168378.1. [Q8N9L1-3]
DR RefSeq; NP_001161851.1; NM_001168379.1. [Q8N9L1-5]
DR RefSeq; NP_001230185.1; NM_001243256.1. [Q8N9L1-4]
DR RefSeq; NP_115529.2; NM_032153.5. [Q8N9L1-1]
DR AlphaFoldDB; Q8N9L1; -.
DR SMR; Q8N9L1; -.
DR BioGRID; 123895; 2.
DR IntAct; Q8N9L1; 3.
DR STRING; 9606.ENSP00000435509; -.
DR GlyGen; Q8N9L1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N9L1; -.
DR PhosphoSitePlus; Q8N9L1; -.
DR BioMuta; ZIC4; -.
DR DMDM; 85700440; -.
DR jPOST; Q8N9L1; -.
DR MassIVE; Q8N9L1; -.
DR MaxQB; Q8N9L1; -.
DR PaxDb; Q8N9L1; -.
DR PeptideAtlas; Q8N9L1; -.
DR PRIDE; Q8N9L1; -.
DR ProteomicsDB; 6446; -.
DR ProteomicsDB; 72552; -. [Q8N9L1-1]
DR ProteomicsDB; 72553; -. [Q8N9L1-2]
DR ProteomicsDB; 8895; -.
DR TopDownProteomics; Q8N9L1-3; -. [Q8N9L1-3]
DR Antibodypedia; 33535; 405 antibodies from 27 providers.
DR DNASU; 84107; -.
DR Ensembl; ENST00000383075.8; ENSP00000372553.3; ENSG00000174963.18. [Q8N9L1-1]
DR Ensembl; ENST00000425731.7; ENSP00000397695.3; ENSG00000174963.18. [Q8N9L1-5]
DR Ensembl; ENST00000473123.5; ENSP00000420775.1; ENSG00000174963.18. [Q8N9L1-1]
DR Ensembl; ENST00000484399.5; ENSP00000417855.1; ENSG00000174963.18. [Q8N9L1-1]
DR Ensembl; ENST00000491672.5; ENSP00000418277.1; ENSG00000174963.18. [Q8N9L1-4]
DR Ensembl; ENST00000525172.6; ENSP00000435509.2; ENSG00000174963.18. [Q8N9L1-3]
DR GeneID; 84107; -.
DR KEGG; hsa:84107; -.
DR MANE-Select; ENST00000383075.8; ENSP00000372553.3; NM_032153.6; NP_115529.2.
DR UCSC; uc003ewd.3; human. [Q8N9L1-1]
DR CTD; 84107; -.
DR DisGeNET; 84107; -.
DR GeneCards; ZIC4; -.
DR HGNC; HGNC:20393; ZIC4.
DR HPA; ENSG00000174963; Tissue enriched (brain).
DR MalaCards; ZIC4; -.
DR MIM; 608948; gene.
DR neXtProt; NX_Q8N9L1; -.
DR OpenTargets; ENSG00000174963; -.
DR Orphanet; 269212; Isolated Dandy-Walker malformation with hydrocephalus.
DR Orphanet; 269215; Isolated Dandy-Walker malformation without hydrocephalus.
DR PharmGKB; PA134937175; -.
DR VEuPathDB; HostDB:ENSG00000174963; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000154200; -.
DR HOGENOM; CLU_002678_37_0_1; -.
DR InParanoid; Q8N9L1; -.
DR OMA; SSDCSHE; -.
DR OrthoDB; 592023at2759; -.
DR PhylomeDB; Q8N9L1; -.
DR TreeFam; TF351425; -.
DR PathwayCommons; Q8N9L1; -.
DR SignaLink; Q8N9L1; -.
DR BioGRID-ORCS; 84107; 10 hits in 1089 CRISPR screens.
DR ChiTaRS; ZIC4; human.
DR GenomeRNAi; 84107; -.
DR Pharos; Q8N9L1; Tbio.
DR PRO; PR:Q8N9L1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8N9L1; protein.
DR Bgee; ENSG00000174963; Expressed in cerebellar hemisphere and 78 other tissues.
DR ExpressionAtlas; Q8N9L1; baseline and differential.
DR Genevisible; Q8N9L1; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR InterPro; IPR041643; Znf_ZIC.
DR Pfam; PF00096; zf-C2H2; 2.
DR Pfam; PF18366; zf_ZIC; 1.
DR SMART; SM00355; ZnF_C2H2; 5.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Zinc; Zinc-finger.
FT CHAIN 1..334
FT /note="Zinc finger protein ZIC 4"
FT /id="PRO_0000047253"
FT ZN_FING 128..162
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 171..198
FT /note="C2H2-type 2; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 204..228
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 234..258
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 264..288
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 20..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 282..334
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..40
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 295..324
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MPPFCRNAKLGLLSFLICAGRSLLPLGKNAFWLERIENNNTLWEKAQ
FT SQKM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044484"
FT VAR_SEQ 1
FT /note="M -> MNGPCQSLRKAEGLLEGCTSAVTVFRKLPLDSKAQSQKM (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046072"
FT VAR_SEQ 25..230
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045529"
FT VAR_SEQ 231..256
FT /note="EKPFRCEFEGCERRFANSSDRKKHSH -> QYSALSVACGPSGEAGPRVWIS
FT SSPN (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_017066"
FT VAR_SEQ 257..334
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_017067"
FT CONFLICT 100
FT /note="G -> V (in Ref. 1; BAG57350)"
FT /evidence="ECO:0000305"
FT CONFLICT 228
FT /note="H -> Q (in Ref. 3; AAH29507)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 334 AA; 36567 MW; 9EFEA2447D7B2F64 CRC64;
MRYKTSLVMR KRLRLYRNTL KESSSSSGHH GPQLTAASSP SVFPGLHEEP PQASPSRPLN
GLLRLGLPGD MYARPEPFPP GPAARSDALA AAAALHGYGG MNLTVNLAAP HGPGAFFRYM
RQPIKQELIC KWLAADGTAT PSLCSKTFST MHELVTHVTV EHVGGPEQAN HICFWEECPR
QGKPFKAKYK LVNHIRVHTG EKPFPCPFPG CGKVFARSEN LKIHKRTHTG EKPFRCEFEG
CERRFANSSD RKKHSHVHTS DKPYTCKVRG CDKCYTHPSS LRKHMKVHGR SPPPSSGYDS
ATPSALVSPS SDCGHKSQVA SSAAVAARTA DLSE
