ZN713_HUMAN
ID ZN713_HUMAN Reviewed; 443 AA.
AC Q8N859; A0A0M3HEQ9;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 29-SEP-2021, sequence version 2.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Zinc finger protein 713 {ECO:0000305};
GN Name=ZNF713 {ECO:0000312|HGNC:HGNC:22043};
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 GENOMIC DNA], AND IDENTIFICATION.
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-443.
RC TISSUE=Spleen;
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 [3]
RP POTENTIAL INVOLVEMENT IN AUTISTIC DISORDER, AND TISSUE SPECIFICITY.
RX PubMed=25196122; DOI=10.1002/humu.22683;
RA Metsu S., Rainger J.K., Debacker K., Bernhard B., Rooms L.,
RA Grafodatskaya D., Weksberg R., Fombonne E., Taylor M.S., Scherer S.W.,
RA Kooy R.F., FitzPatrick D.R.;
RT "A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with
RT autistic spectrum disorder in two families.";
RL Hum. Mutat. 35:1295-1300(2014).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Expressed in fetal and adult brain.
CC {ECO:0000269|PubMed:25196122}.
CC -!- POLYMORPHISM: The ZNF713 gene contains a polymorphic CGG-repeat
CC expansion in the non-coding region: 5 to 22 repeats are found in the
CC normal population, most frequently 7. Higher numbers of repeats (50-200
CC CGG) are considered as premutations, which may affect methylation and
CC cause mitotic instability. {ECO:0000305|PubMed:25196122}.
CC -!- DISEASE: Note=A 7p11.2 folate-sensitive fragile site, FRA7A, has been
CC identified in 2 unrelated families diagnosed with an autistic disorder.
CC FRA7A is associated with a CGG-repeat expansion in a ZNF713 5'-intron.
CC In the first family, the expanded allele contained about 450 CGG-
CC repeats. It showed hypermethylation and reduced ZNF713 expression. In
CC the second family, 3 autistic siblings exhibited a heterozygous
CC expansion of about 70 repeats, corresponding to premutations, which
CC were partially or mosaically methylated. Mitotic instability of the
CC premutation was observed in one affected sibling. In this family,
CC ZNF713 tends to be up-regulated. It has been suggested that ZNF713
CC misregulation in the brain might be involved in the pathogenicity of
CC autistic disorder (PubMed:25196122). {ECO:0000269|PubMed:25196122}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; AC092579; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092647; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK097282; BAC04991.1; -; mRNA.
DR CCDS; CCDS34639.2; -.
DR RefSeq; NP_872439.2; NM_182633.2.
DR AlphaFoldDB; Q8N859; -.
DR SMR; Q8N859; -.
DR BioGRID; 131546; 8.
DR STRING; 9606.ENSP00000416662; -.
DR iPTMnet; Q8N859; -.
DR PhosphoSitePlus; Q8N859; -.
DR BioMuta; ZNF713; -.
DR DMDM; 74759999; -.
DR EPD; Q8N859; -.
DR jPOST; Q8N859; -.
DR MassIVE; Q8N859; -.
DR MaxQB; Q8N859; -.
DR PaxDb; Q8N859; -.
DR PeptideAtlas; Q8N859; -.
DR PRIDE; Q8N859; -.
DR ProteomicsDB; 72376; -.
DR Antibodypedia; 13842; 112 antibodies from 20 providers.
DR DNASU; 349075; -.
DR Ensembl; ENST00000429591.4; ENSP00000416662.3; ENSG00000178665.16.
DR GeneID; 349075; -.
DR KEGG; hsa:349075; -.
DR MANE-Select; ENST00000429591.4; ENSP00000416662.3; NM_182633.3; NP_872439.2.
DR UCSC; uc003trc.2; human.
DR CTD; 349075; -.
DR GeneCards; ZNF713; -.
DR HGNC; HGNC:22043; ZNF713.
DR HPA; ENSG00000178665; Low tissue specificity.
DR MIM; 616181; gene.
DR neXtProt; NX_Q8N859; -.
DR OpenTargets; ENSG00000178665; -.
DR PharmGKB; PA143485679; -.
DR VEuPathDB; HostDB:ENSG00000178665; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00950000182890; -.
DR InParanoid; Q8N859; -.
DR OMA; YQLEFNQ; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q8N859; -.
DR TreeFam; TF337055; -.
DR PathwayCommons; Q8N859; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q8N859; -.
DR BioGRID-ORCS; 349075; 6 hits in 1092 CRISPR screens.
DR ChiTaRS; ZNF713; human.
DR GenomeRNAi; 349075; -.
DR Pharos; Q8N859; Tdark.
DR PRO; PR:Q8N859; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8N859; protein.
DR Bgee; ENSG00000178665; Expressed in cortical plate and 124 other tissues.
DR ExpressionAtlas; Q8N859; baseline and differential.
DR Genevisible; Q8N859; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 5.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 6.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 4.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 5.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 6.
PE 2: Evidence at transcript level;
KW Autism spectrum disorder; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation;
KW Triplet repeat expansion; Zinc; Zinc-finger.
FT CHAIN 1..443
FT /note="Zinc finger protein 713"
FT /id="PRO_0000233285"
FT DOMAIN 32..102
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 255..280
FT /note="C2H2-type 1; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 286..308
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 314..336
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 342..364
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 370..392
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 398..420
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 99..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 443 AA; 51563 MW; 52736E2F55D41B83 CRC64;
MPSQNAVFSQ EGNMEEEEMN DGSQMVRSQE SLTFQDVAVD FTREEWDQLY PAQKNLYRDV
MLENYRNLVA LGYQLCKPEV IAQLELEEEW VIERDSLLDT HPDGENRPEI KKSTTSQNIS
DENQTHEMIM ERLAGDSFWY SILGGLWDFD YHPEFNQENH KRYLGQVTLT HKKITQERSL
ECNKFAENCN LNSNLMQQRI PSIKIPLNSD TQGNSIKHNS DLIYYQGNYV RETPYEYSEC
GKIFNQHILL TDHIHTAEKP SECGKAFSHT SSLSQPQMLL TGEKPYKCDE CGKRFSQRIH
LIQHQRIHTG EKPFICNGCG KAFRQHSSFT QHLRIHTGEK PYKCNQCGKA FSRITSLTEH
HRLHTGEKPY ECGFCGKAFS QRTHLNQHER THTGEKPYKC NECGKAFSQS AHLNQHRKIH
TREKLCEYKC EQTVRHSPSF SST
