ID ZN713_HUMAN Reviewed; 430 AA.
AC Q8N859;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 10-MAY-2017, entry version 125.
DE RecName: Full=Zinc finger protein 713;
GN Name=ZNF713;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 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
RT with 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
CC the normal population, most frequently 7. Higher numbers of
CC repeats (50-200 CGG) are considered as premutations, which may
CC affect methylation and cause mitotic instability.
CC {ECO:0000305|PubMed:25196122}.
CC -!- DISEASE: Note=A 7p11.2 folate-sensitive fragile site, FRA7A, has
CC been identified in 2 unrelated families diagnosed with an autistic
CC disorder. FRA7A is associated with a CGG-repeat expansion in a
CC ZNF713 5'-intron. In the first family, the expanded allele
CC contained about 450 CGG-repeats. It showed hypermethylation and
CC reduced ZNF713 expression. In the second family, 3 autistic
CC siblings exhibited a heterozygous expansion of about 70 repeats,
CC corresponding to premutations, which were partially or mosaically
CC methylated. Mitotic instability of the premutation was observed in
CC one affected sibling. In this family, ZNF713 tends to be up-
CC regulated. It has been suggested that ZNF713 misregulation in the
CC brain might be involved in the pathogenicity of autistic disorder
CC (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; AK097282; BAC04991.1; -; mRNA.
DR UniGene; Hs.660834; -.
DR UniGene; Hs.733550; -.
DR UniGene; Hs.737301; -.
DR ProteinModelPortal; Q8N859; -.
DR SMR; Q8N859; -.
DR STRING; 9606.ENSP00000416662; -.
DR iPTMnet; Q8N859; -.
DR PhosphoSitePlus; Q8N859; -.
DR BioMuta; ZNF713; -.
DR DMDM; 74759999; -.
DR EPD; Q8N859; -.
DR MaxQB; Q8N859; -.
DR PaxDb; Q8N859; -.
DR PeptideAtlas; Q8N859; -.
DR PRIDE; Q8N859; -.
DR DNASU; 349075; -.
DR Ensembl; ENST00000633730; ENSP00000487818; ENSG00000178665.
DR UCSC; uc003trc.2; human.
DR DisGeNET; 349075; -.
DR GeneCards; ZNF713; -.
DR HGNC; HGNC:22043; ZNF713.
DR HPA; HPA059425; -.
DR HPA; HPA062887; -.
DR MIM; 616181; gene.
DR neXtProt; NX_Q8N859; -.
DR OpenTargets; ENSG00000178665; -.
DR PharmGKB; PA143485679; -.
DR eggNOG; KOG1721; Eukaryota.
DR eggNOG; COG5048; LUCA.
DR GeneTree; ENSGT00840000129852; -.
DR HOGENOM; HOG000234617; -.
DR HOVERGEN; HBG018163; -.
DR InParanoid; Q8N859; -.
DR OMA; TQGNSIK; -.
DR OrthoDB; EOG091G0MBT; -.
DR PhylomeDB; Q8N859; -.
DR TreeFam; TF337055; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR ChiTaRS; ZNF713; human.
DR PRO; PR:Q8N859; -.
DR Proteomes; UP000005640; Chromosome 7.
DR Bgee; ENSG00000178665; -.
DR CleanEx; HS_ZNF713; -.
DR ExpressionAtlas; Q8N859; baseline and differential.
DR Genevisible; Q8N859; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:UniProtKB-KW.
DR GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
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; Complete proteome; DNA-binding;
KW Metal-binding; Nucleus; Reference proteome; Repeat; Transcription;
KW Transcription regulation; Triplet repeat expansion; Zinc; Zinc-finger.
FT CHAIN 1 430 Zinc finger protein 713.
FT /FTId=PRO_0000233285.
FT DOMAIN 19 89 KRAB. {ECO:0000255|PROSITE-
FT ProRule:PRU00119}.
FT ZN_FING 273 295 C2H2-type 1. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 301 323 C2H2-type 2. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 329 351 C2H2-type 3. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 357 379 C2H2-type 4. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT ZN_FING 385 407 C2H2-type 5. {ECO:0000255|PROSITE-
FT ProRule:PRU00042}.
FT COMPBIAS 2 5 Poly-Glu.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 329 356 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 275 295 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 357 379 ismart:ZnF_C2H2 [T]
FT MYHIT 273 300 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 303 323 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 301 328 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 19 78 ismart:KRAB [T]
FT MYHIT 273 295 ismart:ZnF_C2H2 [T]
FT MYHIT 385 412 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 385 407 ismart:ZnF_C2H2 [T]
FT MYHIT 387 407 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 242 272 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 18 59 ipfam:KRAB [T]
FT MYHIT 222 242 ismart:ZnF_C2H2 [T]
FT MYHIT 19 89 iprf:KRAB [T]
FT MYHIT 331 351 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 359 379 ipat:ZINC_FINGER_C2H2_1 [T]
FT MYHIT 357 384 iprf:ZINC_FINGER_C2H2_2 [T]
FT MYHIT 301 323 ismart:ZnF_C2H2 [T]
FT MYHIT 329 351 ismart:ZnF_C2H2 [T]
SQ SEQUENCE 430 AA; 50172 MW; 39464BDA005E70DA CRC64;
MEEEEMNDGS QMVRSQESLT FQDVAVDFTR EEWDQLYPAQ KNLYRDVMLE NYRNLVALGY
QLCKPEVIAQ LELEEEWVIE RDSLLDTHPD GENRPEIKKS TTSQNISDEN QTHEMIMERL
AGDSFWYSIL GGLWDFDYHP EFNQENHKRY LGQVTLTHKK ITQERSLECN KFAENCNLNS
NLMQQRIPSI KIPLNSDTQG NSIKHNSDLI YYQGNYVRET PYEYSECGKI FNQHILLTDH
IHTAEKPSEC GKAFSHTSSL SQPQMLLTGE KPYKCDECGK RFSQRIHLIQ HQRIHTGEKP
FICNGCGKAF RQHSSFTQHL RIHTGEKPYK CNQCGKAFSR ITSLTEHHRL HTGEKPYECG
FCGKAFSQRT HLNQHERTHT GEKPYKCNEC GKAFSQSAHL NQHRKIHTRE KLCEYKCEQT
VRHSPSFSST
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