ZIC5_HUMAN
ID ZIC5_HUMAN Reviewed; 663 AA.
AC Q96T25; Q5VYB0;
DT 23-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Zinc finger protein ZIC 5;
DE AltName: Full=Zinc finger protein of the cerebellum 5;
GN Name=ZIC5;
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 [MRNA].
RA Gou D.M., Li W.X., Gao L., Sun Y.;
RT "A novel human zinc finger gene, hZic5.";
RL Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-600, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-600, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [5]
RP VARIANTS 410-PRO--PRO-414 DEL AND PHE-610.
RX PubMed=27932480; DOI=10.1681/asn.2016040387;
RG NephroS;
RG UK study of Nephrotic Syndrome;
RA Bierzynska A., Soderquest K., Dean P., Colby E., Rollason R., Jones C.,
RA Inward C.D., McCarthy H.J., Simpson M.A., Lord G.M., Williams M.,
RA Welsh G.I., Koziell A.B., Saleem M.A.;
RT "MAGI2 mutations cause congenital nephrotic syndrome.";
RL J. Am. Soc. Nephrol. 28:1614-1621(2017).
CC -!- FUNCTION: Essential for neural crest development, converting cells from
CC an epidermal fate to a neural crest cell fate. Binds to DNA (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the GLI C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-25 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK55418.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF378304; AAK55418.1; ALT_INIT; mRNA.
DR EMBL; AL355338; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_149123.2; NM_033132.3.
DR AlphaFoldDB; Q96T25; -.
DR SMR; Q96T25; -.
DR BioGRID; 124522; 4.
DR IntAct; Q96T25; 1.
DR MINT; Q96T25; -.
DR STRING; 9606.ENSP00000267294; -.
DR iPTMnet; Q96T25; -.
DR PhosphoSitePlus; Q96T25; -.
DR BioMuta; ZIC5; -.
DR DMDM; 327478546; -.
DR EPD; Q96T25; -.
DR jPOST; Q96T25; -.
DR MassIVE; Q96T25; -.
DR MaxQB; Q96T25; -.
DR PaxDb; Q96T25; -.
DR PeptideAtlas; Q96T25; -.
DR PRIDE; Q96T25; -.
DR ProteomicsDB; 78178; -.
DR Antibodypedia; 10971; 118 antibodies from 25 providers.
DR DNASU; 85416; -.
DR Ensembl; ENST00000267294.5; ENSP00000267294.4; ENSG00000139800.9.
DR GeneID; 85416; -.
DR KEGG; hsa:85416; -.
DR UCSC; uc001vom.2; human.
DR CTD; 85416; -.
DR DisGeNET; 85416; -.
DR GeneCards; ZIC5; -.
DR HGNC; HGNC:20322; ZIC5.
DR HPA; ENSG00000139800; Tissue enhanced (brain, choroid plexus, testis).
DR MIM; 617896; gene.
DR neXtProt; NX_Q96T25; -.
DR PharmGKB; PA134941698; -.
DR VEuPathDB; HostDB:ENSG00000139800; -.
DR eggNOG; KOG1721; Eukaryota.
DR HOGENOM; CLU_002678_37_3_1; -.
DR InParanoid; Q96T25; -.
DR OMA; PPHGVFI; -.
DR OrthoDB; 592023at2759; -.
DR PhylomeDB; Q96T25; -.
DR TreeFam; TF351425; -.
DR PathwayCommons; Q96T25; -.
DR SignaLink; Q96T25; -.
DR BioGRID-ORCS; 85416; 6 hits in 1103 CRISPR screens.
DR ChiTaRS; ZIC5; human.
DR GenomeRNAi; 85416; -.
DR Pharos; Q96T25; Tbio.
DR PRO; PR:Q96T25; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q96T25; protein.
DR Bgee; ENSG00000139800; Expressed in right hemisphere of cerebellum and 38 other tissues.
DR Genevisible; Q96T25; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0030154; P:cell differentiation; IEA:UniProtKB-KW.
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 1: Evidence at protein level;
KW Developmental protein; Differentiation; DNA-binding; Metal-binding;
KW Neurogenesis; Nucleus; Phosphoprotein; Reference proteome; Repeat; Zinc;
KW Zinc-finger.
FT CHAIN 1..663
FT /note="Zinc finger protein ZIC 5"
FT /id="PRO_0000047255"
FT ZN_FING 458..485
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 491..515
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 521..545
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 551..575
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 97..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 137..195
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 213..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 347..379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 403..433
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 572..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 631..663
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 146..176
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 351..371
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 406..428
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 631..649
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 578
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQ40"
FT MOD_RES 582
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TQ40"
FT MOD_RES 600
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:21406692"
FT VARIANT 410..414
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:27932480"
FT /id="VAR_079268"
FT VARIANT 610
FT /note="S -> F (in dbSNP:rs201876139)"
FT /evidence="ECO:0000269|PubMed:27932480"
FT /id="VAR_079269"
SQ SEQUENCE 663 AA; 68448 MW; 90C16FF2EEB1F54A CRC64;
MFLKAGRGNK VPPVRVYGPD CVVLMEPPLS KRNPPALRLA DLATAQVQPL QNMTGFPALA
GPPAHSQLRA AVAHLRLRDL GADPGVATTP LGPEHMAQAS TLGLSPPSQA FPAHPEAPAA
AARAAALVAH PGAGSYPCGG GSSGAQPSAP PPPAPPLPPT PSPPPPPPPP PPPALSGYTT
TNSGGGGSSG KGHSRDFVLR RDLSATAPAA AMHGAPLGGE QRSGTGSPQH PAPPPHSAGM
FISASGTYAG PDGSGGPALF PALHDTPGAP GGHPHPLNGQ MRLGLAAAAA AAAAELYGRA
EPPFAPRSGD AHYGAVAAAA AAALHGYGAV NLNLNLAAAA AAAAAGPGPH LQHHAPPPAP
PPPPAPAQHP HQHHPHLPGA AGAFLRYMRQ PIKQELICKW IDPDELAGLP PPPPPPPPPP
PPPPAGGAKP CSKTFGTMHE LVNHVTVEHV GGPEQSSHVC FWEDCPREGK PFKAKYKLIN
HIRVHTGEKP FPCPFPGCGK VFARSENLKI HKRTHTGEKP FKCEFDGCDR KFANSSDRKK
HSHVHTSDKP YYCKIRGCDK SYTHPSSLRK HMKIHCKSPP PSPGPLGYSS VGTPVGAPLS
PVLDPARSHS STLSPQVTNL NEWYVCQASG APSHLHTPSS NGTTSETEDE EIYGNPEVVR
TIH
