ZCH12_HUMAN
ID ZCH12_HUMAN Reviewed; 402 AA.
AC Q6PEW1; B3KV48; Q6PID5; Q8N1C1;
DT 10-MAY-2005, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2005, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Zinc finger CCHC domain-containing protein 12;
DE AltName: Full=Smad-interacting zinc finger protein 1;
GN Name=ZCCHC12; Synonyms=SIZN1;
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].
RC TISSUE=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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-179 AND GLY-214.
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 VARIANT THR-241.
RX PubMed=26522270; DOI=10.1038/srep16022;
RA Casey J.P., Stoeve S.I., McGorrian C., Galvin J., Blenski M., Dunne A.,
RA Ennis S., Brett F., King M.D., Arnesen T., Lynch S.A.;
RT "NAA10 mutation causing a novel intellectual disability syndrome with Long
RT QT due to N-terminal acetyltransferase impairment.";
RL Sci. Rep. 5:16022-16022(2015).
CC -!- FUNCTION: Transcriptional coactivator in the bone morphogenetic protein
CC (BMP)-signaling pathway. It positively modulates BMP signaling by
CC interacting with SMAD1 and associating with CBP in the transcription
CC complex. It contributes to the BMP-induced enhancement of cholinergic-
CC neuron-specific gene expression (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with SMAD1 and CREB-binding protein (CBP). Forms a
CC protein-DNA complex through its association with SMAD1 (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q6PEW1; Q8WTS1: ABHD5; NbExp=3; IntAct=EBI-748373, EBI-2813554;
CC Q6PEW1; P27449: ATP6V0C; NbExp=3; IntAct=EBI-748373, EBI-721179;
CC Q6PEW1; Q9UJ71: CD207; NbExp=3; IntAct=EBI-748373, EBI-2873235;
CC Q6PEW1; Q13158: FADD; NbExp=3; IntAct=EBI-748373, EBI-494804;
CC Q6PEW1; Q969F0: FATE1; NbExp=3; IntAct=EBI-748373, EBI-743099;
CC Q6PEW1; P42858: HTT; NbExp=3; IntAct=EBI-748373, EBI-466029;
CC Q6PEW1; O00505: KPNA3; NbExp=3; IntAct=EBI-748373, EBI-358297;
CC Q6PEW1; P25800: LMO1; NbExp=3; IntAct=EBI-748373, EBI-8639312;
CC Q6PEW1; G5E962: MAGEA11; NbExp=3; IntAct=EBI-748373, EBI-11525615;
CC Q6PEW1; P43364-2: MAGEA11; NbExp=3; IntAct=EBI-748373, EBI-10178634;
CC Q6PEW1; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-748373, EBI-348259;
CC Q6PEW1; Q8ND90: PNMA1; NbExp=10; IntAct=EBI-748373, EBI-302345;
CC Q6PEW1; O75150: RNF40; NbExp=3; IntAct=EBI-748373, EBI-744408;
CC Q6PEW1; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-748373, EBI-8636004;
CC Q6PEW1; P32856-2: STX2; NbExp=3; IntAct=EBI-748373, EBI-11956649;
CC Q6PEW1; P63165: SUMO1; NbExp=6; IntAct=EBI-748373, EBI-80140;
CC Q6PEW1; P55854: SUMO3; NbExp=3; IntAct=EBI-748373, EBI-474067;
CC Q6PEW1; O75478: TADA2A; NbExp=3; IntAct=EBI-748373, EBI-742268;
CC Q6PEW1; Q12800: TFCP2; NbExp=6; IntAct=EBI-748373, EBI-717422;
CC Q6PEW1; Q9BTV4: TMEM43; NbExp=3; IntAct=EBI-748373, EBI-721293;
CC Q6PEW1; Q9BSE2: TMEM79; NbExp=3; IntAct=EBI-748373, EBI-8649725;
CC Q6PEW1; P01375: TNF; NbExp=3; IntAct=EBI-748373, EBI-359977;
CC Q6PEW1; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-748373, EBI-10180829;
CC -!- SIMILARITY: Belongs to the ZCCHC12 family. {ECO:0000305}.
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DR EMBL; AK122676; BAG53660.1; -; mRNA.
DR EMBL; CH471161; EAW89892.1; -; Genomic_DNA.
DR EMBL; BC031241; AAH31241.1; -; mRNA.
DR EMBL; BC036572; AAH36572.1; -; mRNA.
DR EMBL; BC057841; AAH57841.1; -; mRNA.
DR CCDS; CCDS14574.1; -.
DR RefSeq; NP_001299820.1; NM_001312891.1.
DR RefSeq; NP_776159.1; NM_173798.3.
DR AlphaFoldDB; Q6PEW1; -.
DR BioGRID; 127997; 32.
DR IntAct; Q6PEW1; 27.
DR STRING; 9606.ENSP00000308921; -.
DR iPTMnet; Q6PEW1; -.
DR PhosphoSitePlus; Q6PEW1; -.
DR BioMuta; ZCCHC12; -.
DR DMDM; 85718626; -.
DR MassIVE; Q6PEW1; -.
DR PaxDb; Q6PEW1; -.
DR PeptideAtlas; Q6PEW1; -.
DR PRIDE; Q6PEW1; -.
DR ProteomicsDB; 67083; -.
DR Antibodypedia; 29736; 108 antibodies from 19 providers.
DR DNASU; 170261; -.
DR Ensembl; ENST00000310164.3; ENSP00000308921.2; ENSG00000174460.4.
DR GeneID; 170261; -.
DR KEGG; hsa:170261; -.
DR MANE-Select; ENST00000310164.3; ENSP00000308921.2; NM_173798.4; NP_776159.1.
DR UCSC; uc004equ.4; human.
DR CTD; 170261; -.
DR DisGeNET; 170261; -.
DR GeneCards; ZCCHC12; -.
DR HGNC; HGNC:27273; ZCCHC12.
DR HPA; ENSG00000174460; Group enriched (brain, endometrium, fallopian tube, smooth muscle).
DR MIM; 300701; gene.
DR neXtProt; NX_Q6PEW1; -.
DR OpenTargets; ENSG00000174460; -.
DR PharmGKB; PA134885304; -.
DR VEuPathDB; HostDB:ENSG00000174460; -.
DR eggNOG; ENOG502RU0T; Eukaryota.
DR GeneTree; ENSGT01030000234522; -.
DR HOGENOM; CLU_686127_0_0_1; -.
DR InParanoid; Q6PEW1; -.
DR OMA; RKHTIRC; -.
DR OrthoDB; 697027at2759; -.
DR PhylomeDB; Q6PEW1; -.
DR TreeFam; TF335054; -.
DR PathwayCommons; Q6PEW1; -.
DR SignaLink; Q6PEW1; -.
DR BioGRID-ORCS; 170261; 7 hits in 690 CRISPR screens.
DR GenomeRNAi; 170261; -.
DR Pharos; Q6PEW1; Tbio.
DR PRO; PR:Q6PEW1; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q6PEW1; protein.
DR Bgee; ENSG00000174460; Expressed in left uterine tube and 124 other tissues.
DR Genevisible; Q6PEW1; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR InterPro; IPR026523; PNMA.
DR InterPro; IPR036875; Znf_CCHC_sf.
DR PANTHER; PTHR23095; PTHR23095; 1.
DR Pfam; PF14893; PNMA; 1.
DR SUPFAM; SSF57756; SSF57756; 1.
PE 1: Evidence at protein level;
KW Metal-binding; Reference proteome; Transcription; Transcription regulation;
KW Zinc; Zinc-finger.
FT CHAIN 1..402
FT /note="Zinc finger CCHC domain-containing protein 12"
FT /id="PRO_0000150971"
FT ZN_FING 345..362
FT /note="CCHC-type"
FT REGION 308..341
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 313..328
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 7
FT /note="R -> C (in dbSNP:rs35356061)"
FT /id="VAR_045908"
FT VARIANT 179
FT /note="L -> I (in dbSNP:rs17854957)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_045909"
FT VARIANT 214
FT /note="R -> G (in dbSNP:rs17853670)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_045910"
FT VARIANT 241
FT /note="R -> T (in dbSNP:rs140976011)"
FT /evidence="ECO:0000269|PubMed:26522270"
FT /id="VAR_075208"
SQ SEQUENCE 402 AA; 45369 MW; D748B77689E38518 CRC64;
MASIIARVGN SRRLNAPLPP WAHSMLRSLG RSLGPIMASM ADRNMKLFSG RVVPAQGEET
FENWLTQVNG VLPDWNMSEE EKLKRLMKTL RGPAREVMRV LQATNPNLSV ADFLRAMKLV
FGESESSVTA HGKFFNTLQA QGEKASLYVI RLEVQLQNAI QAGIIAEKDA NRTRLQQLLL
GGELSRDLRL RLKDFLRMYA NEQERLPNFL ELIRMVREEE DWDDAFIKRK RPKRSESMVE
RAVSPVAFQG SPPIVIGSAD CNVIEIDDTL DDSDEDVILV ESQDPPLPSW GAPPLRDRAR
PQDEVLVIDS PHNSRAQFPS TSGGSGYKNN GPGEMRRARK RKHTIRCSYC GEEGHSKETC
DNESDKAQVF ENLIITLQEL THTEMERSRV APGEYNDFSE PL
