ZN674_HUMAN
ID ZN674_HUMAN Reviewed; 581 AA.
AC Q2M3X9; B4DHE2; E9PHQ4;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-FEB-2006, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Zinc finger protein 674;
GN Name=ZNF674;
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] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL
RP STAGE, VARIANTS MET-343 AND LEU-412, AND POSSIBLE ASSOCIATION OF VARIANT
RP LEU-412 WITH X-LINKED INTELLECTUAL DISABILITY.
RX PubMed=16385466; DOI=10.1086/500306;
RA Lugtenberg D., Yntema H.G., Banning M.J.G., Oudakker A.R., Firth H.V.,
RA Willatt L., Raynaud M., Kleefstra T., Fryns J.-P., Ropers H.-H., Chelly J.,
RA Moraine C., Gecz J., van Reeuwijk J., Nabuurs S.B., de Vries B.B.A.,
RA Hamel B.C.J., de Brouwer A.P.M., van Bokhoven H.;
RT "ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved
RT in nonsyndromic X-linked mental retardation.";
RL Am. J. Hum. Genet. 78:265-278(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP LACK OF ASSOCIATION OF VARIANT LEU-412 WITH X-LINKED INTELLECTUAL
RP DISABILITY.
RX PubMed=23871722; DOI=10.1016/j.ajhg.2013.06.013;
RA Piton A., Redin C., Mandel J.L.;
RT "XLID-causing mutations and associated genes challenged in light of data
RT from large-scale human exome sequencing.";
RL Am. J. Hum. Genet. 93:368-383(2013).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2M3X9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2M3X9-2; Sequence=VSP_044562;
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:16385466}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal brain.
CC {ECO:0000269|PubMed:16385466}.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- CAUTION: Although ZNF674 has been reported to be involved in X-linked
CC intellectual disability (PubMed:16385466), its pathological role is
CC questionable (PubMed:23871722). {ECO:0000305|PubMed:16385466,
CC ECO:0000305|PubMed:23871722}.
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DR EMBL; AY971607; AAY40800.1; -; mRNA.
DR EMBL; AK295054; BAG58103.1; -; mRNA.
DR EMBL; AL022165; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL031393; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS48099.1; -. [Q2M3X9-1]
DR CCDS; CCDS55406.1; -. [Q2M3X9-2]
DR RefSeq; NP_001034980.1; NM_001039891.2. [Q2M3X9-1]
DR RefSeq; NP_001139763.1; NM_001146291.1. [Q2M3X9-2]
DR RefSeq; NP_001177346.1; NM_001190417.1.
DR RefSeq; XP_011542243.1; XM_011543941.2. [Q2M3X9-1]
DR AlphaFoldDB; Q2M3X9; -.
DR SMR; Q2M3X9; -.
DR BioGRID; 534961; 7.
DR IntAct; Q2M3X9; 1.
DR STRING; 9606.ENSP00000429148; -.
DR iPTMnet; Q2M3X9; -.
DR PhosphoSitePlus; Q2M3X9; -.
DR BioMuta; ZNF674; -.
DR DMDM; 94730686; -.
DR jPOST; Q2M3X9; -.
DR MassIVE; Q2M3X9; -.
DR MaxQB; Q2M3X9; -.
DR PaxDb; Q2M3X9; -.
DR PeptideAtlas; Q2M3X9; -.
DR PRIDE; Q2M3X9; -.
DR Antibodypedia; 47866; 93 antibodies from 19 providers.
DR DNASU; 641339; -.
DR Ensembl; ENST00000414387.6; ENSP00000428248.1; ENSG00000251192.8. [Q2M3X9-2]
DR Ensembl; ENST00000523374.5; ENSP00000429148.1; ENSG00000251192.8. [Q2M3X9-1]
DR GeneID; 641339; -.
DR KEGG; hsa:641339; -.
DR UCSC; uc004dgr.4; human. [Q2M3X9-1]
DR CTD; 641339; -.
DR DisGeNET; 641339; -.
DR GeneCards; ZNF674; -.
DR HGNC; HGNC:17625; ZNF674.
DR HPA; ENSG00000251192; Low tissue specificity.
DR MIM; 300573; gene.
DR neXtProt; NX_Q2M3X9; -.
DR OpenTargets; ENSG00000251192; -.
DR PharmGKB; PA142670475; -.
DR VEuPathDB; HostDB:ENSG00000251192; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162233; -.
DR HOGENOM; CLU_002678_44_5_1; -.
DR InParanoid; Q2M3X9; -.
DR OMA; TSEKPEC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q2M3X9; -.
DR TreeFam; TF337898; -.
DR PathwayCommons; Q2M3X9; -.
DR SignaLink; Q2M3X9; -.
DR BioGRID-ORCS; 641339; 18 hits in 719 CRISPR screens.
DR ChiTaRS; ZNF674; human.
DR GenomeRNAi; 641339; -.
DR Pharos; Q2M3X9; Tdark.
DR PRO; PR:Q2M3X9; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q2M3X9; protein.
DR Bgee; ENSG00000251192; Expressed in cortical plate and 98 other tissues.
DR ExpressionAtlas; Q2M3X9; baseline and differential.
DR Genevisible; Q2M3X9; 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:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; 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; 11.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 7.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 11.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..581
FT /note="Zinc finger protein 674"
FT /id="PRO_0000233995"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 224..246
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 252..274
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 280..302
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 308..330
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 385..407
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 413..435
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 441..463
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 469..491
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 497..519
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 525..547
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 553..575
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 357..377
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 80..85
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044562"
FT VARIANT 182
FT /note="L -> F (in dbSNP:rs1737367)"
FT /id="VAR_046997"
FT VARIANT 343
FT /note="T -> M (in dbSNP:rs61730637)"
FT /evidence="ECO:0000269|PubMed:16385466"
FT /id="VAR_026152"
FT VARIANT 412
FT /note="P -> L (rare variant found in patients with X-linked
FT intellectual disability; unknown pathological significance;
FT dbSNP:rs1422964788)"
FT /evidence="ECO:0000269|PubMed:16385466"
FT /id="VAR_026153"
FT CONFLICT 222
FT /note="K -> R (in Ref. 2; BAG58103)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 581 AA; 67199 MW; 6DBD560342DE250D CRC64;
MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGHL VGKPDVIFRL
GPGDESWMAD GGTPVRTCAG EDRPEVWEVD EQIDHYKESQ DKFLWQAAFI GKETLKDESG
QECKICRKII YLNTDFVSVK QRLPKYYSWE RCSKHHLNFL GQNRSYVRKK DDGCKAYWKV
CLHYNLHKAQ PAERFFDPNQ RGKALHQKQA LRKSQRSQTG EKLYKCTECG KVFIQKANLV
VHQRTHTGEK PYECCECAKA FSQKSTLIAH QRTHTGEKPY ECSECGKTFI QKSTLIKHQR
THTGEKPFVC DKCPKAFKSS YHLIRHEKTH IRQAFYKGIK CTTSSLIYQR IHTSEKPQCS
EHGKASDEKP SPTKHWRTHT KENIYECSKC GKSFRGKSHL SVHQRIHTGE KPYECSICGK
TFSGKSHLSV HHRTHTGEKP YECRRCGKAF GEKSTLIVHQ RMHTGEKPYK CNECGKAFSE
KSPLIKHQRI HTGERPYECT DCKKAFSRKS TLIKHQRIHT GEKPYKCSEC GKAFSVKSTL
IVHHRTHTGE KPYECRDCGK AFSGKSTLIK HQRSHTGDKN L
