ZN699_HUMAN
ID ZN699_HUMAN Reviewed; 642 AA.
AC Q32M78; Q8N9A1;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Zinc finger protein 699;
DE AltName: Full=Hangover homolog;
GN Name=ZNF699;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 41-642.
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 INVOLVEMENT IN DEGCAGS.
RX PubMed=33875846; DOI=10.1038/s41436-021-01159-0;
RA Bertoli-Avella A.M., Kandaswamy K.K., Khan S., Ordonez-Herrera N.,
RA Tripolszki K., Beetz C., Rocha M.E., Urzi A., Hotakainen R., Leubauer A.,
RA Al-Ali R., Karageorgou V., Moldovan O., Dias P., Alhashem A., Tabarki B.,
RA Albalwi M.A., Alswaid A.F., Al-Hassnan Z.N., Alghamdi M.A., Hadipour Z.,
RA Hadipour F., Al Hashmi N., Al-Gazali L., Cheema H., Zaki M.S., Huening I.,
RA Alfares A., Eyaid W., Al Mutairi F., Alfadhel M., Alkuraya F.S.,
RA Al-Sannaa N.A., AlShamsi A.M., Ameziane N., Rolfs A., Bauer P.;
RT "Combining exome/genome sequencing with data repository analysis reveals
RT novel gene-disease associations for a wide range of genetic disorders.";
RL Genet. Med. 23:1551-1568(2021).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q32M78; Q92997: DVL3; NbExp=3; IntAct=EBI-10217363, EBI-739789;
CC Q32M78; O95967: EFEMP2; NbExp=3; IntAct=EBI-10217363, EBI-743414;
CC Q32M78; Q96MH2: HEXIM2; NbExp=3; IntAct=EBI-10217363, EBI-5460660;
CC Q32M78; P23327: HRC; NbExp=3; IntAct=EBI-10217363, EBI-9639760;
CC Q32M78; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-10217363, EBI-10172052;
CC Q32M78; A7MD48: SRRM4; NbExp=3; IntAct=EBI-10217363, EBI-3867173;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- DISEASE: DEGCAGS syndrome (DEGCAGS) [MIM:619488]: An autosomal
CC recessive neurodevelopmental disorder characterized by global
CC developmental delay, coarse facial features, and abnormalities of the
CC cardiovascular, gastrointestinal, genitourinary and skeletal system.
CC Other common features included anemia or pancytopenia, immunodeficiency
CC and recurrent infections, and sensorineural hearing impairment. Death
CC in childhood may occur. {ECO:0000269|PubMed:33875846}. Note=The disease
CC may be caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04552.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BC109267; AAI09268.1; -; mRNA.
DR EMBL; BC109268; AAI09269.1; -; mRNA.
DR EMBL; AK095463; BAC04552.1; ALT_INIT; mRNA.
DR CCDS; CCDS42495.1; -.
DR RefSeq; NP_940937.1; NM_198535.2.
DR AlphaFoldDB; Q32M78; -.
DR SMR; Q32M78; -.
DR BioGRID; 131929; 15.
DR IntAct; Q32M78; 8.
DR STRING; 9606.ENSP00000467723; -.
DR iPTMnet; Q32M78; -.
DR PhosphoSitePlus; Q32M78; -.
DR BioMuta; ZNF699; -.
DR DMDM; 94730691; -.
DR EPD; Q32M78; -.
DR jPOST; Q32M78; -.
DR MassIVE; Q32M78; -.
DR MaxQB; Q32M78; -.
DR PaxDb; Q32M78; -.
DR PeptideAtlas; Q32M78; -.
DR PRIDE; Q32M78; -.
DR ProteomicsDB; 61593; -.
DR Antibodypedia; 25020; 92 antibodies from 21 providers.
DR DNASU; 374879; -.
DR Ensembl; ENST00000308650.4; ENSP00000311596.3; ENSG00000196110.8.
DR Ensembl; ENST00000591998.6; ENSP00000467723.1; ENSG00000196110.8.
DR GeneID; 374879; -.
DR KEGG; hsa:374879; -.
DR MANE-Select; ENST00000591998.6; ENSP00000467723.1; NM_198535.3; NP_940937.1.
DR UCSC; uc002mlc.1; human.
DR CTD; 374879; -.
DR DisGeNET; 374879; -.
DR GeneCards; ZNF699; -.
DR HGNC; HGNC:24750; ZNF699.
DR HPA; ENSG00000196110; Low tissue specificity.
DR MIM; 609571; gene.
DR MIM; 619488; phenotype.
DR neXtProt; NX_Q32M78; -.
DR OpenTargets; ENSG00000196110; -.
DR PharmGKB; PA142670496; -.
DR VEuPathDB; HostDB:ENSG00000196110; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163210; -.
DR HOGENOM; CLU_002678_17_1_1; -.
DR InParanoid; Q32M78; -.
DR OMA; PQDICGE; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q32M78; -.
DR PathwayCommons; Q32M78; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q32M78; -.
DR BioGRID-ORCS; 374879; 20 hits in 1101 CRISPR screens.
DR ChiTaRS; ZNF699; human.
DR GenomeRNAi; 374879; -.
DR Pharos; Q32M78; Tbio.
DR PRO; PR:Q32M78; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q32M78; protein.
DR Bgee; ENSG00000196110; Expressed in calcaneal tendon and 105 other tissues.
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:0006357; P:regulation of transcription by RNA polymerase II; 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; 12.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 16.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 8.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 14.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 16.
PE 1: Evidence at protein level;
KW Deafness; DNA-binding; Intellectual disability; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..642
FT /note="Zinc finger protein 699"
FT /id="PRO_0000233279"
FT DOMAIN 19..90
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 195..217
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 223..245
FT /note="C2H2-type 2; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 251..273
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 279..301
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 307..329
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 335..357
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 363..385
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 391..413
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 419..441
FT /note="C2H2-type 9; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 447..469
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 475..497
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 503..525
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 531..553
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 559..581
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 587..609
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 615..637
FT /note="C2H2-type 16"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
SQ SEQUENCE 642 AA; 73956 MW; 6A1F8555234C71B0 CRC64;
MEEERKTAEL QKNRIQDSVV FEDVAVDFTQ EEWALLDLAQ RNLYRDVMLE NFQNLASLGY
PLHTPHLISQ WEQEEDLQTV KRELIQGIFM GEHREGFETQ LKTNESVASQ DICGEKISNE
QKIVRFKRND SWFSSLHENQ ESCGIDYQNK SHERHLRNHM VENIYECYEE NQDGQTFSQV
PNLDSLKRNT EVKSCECHEC GKAFVDHSSL KSHIRSHTGS KPYQCKECGK AFHFLACFKK
HMKTPTEEKP YECKECTKAF SCSSFFRAHM KIHIGKTNYE CKECGKGFSC SSSLTEHKRI
HSGDKPYECK ECGKAFSCSS SLSKHKRIHS GDKPYECKEC GKAFSSSSHL IIHIRIHTGE
KPYECKECGK AFSESSKLTV HGRTHTGEKP YKCKECGKAY NCPSSLSIHM RKHTGEKPYE
CLECGKAFYL PTSLNTHVKN QSREKPYECK ECGKAFSCPS SFRAHVRDHT GKIQYECKEC
GKTFSRSSSL TEHLRTHSGE KPYECKECGK AFISSSHLTV HIRTHTGEKP YECKKCGKAF
IYPSALRIHM RTHTGEKPYE CKECGKAFRH SSYLTVHARM HTGEKPFECL ECGKAFSCPS
SFRRHVRSHT GEKPYECKEC GKAFVCPAYF RRHVKTHTRE NI
