KRBX4_HUMAN
ID KRBX4_HUMAN Reviewed; 171 AA.
AC Q5JUW0; A8K0Y8; B3KU22; Q96EA3; Q9NXB1;
DT 02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=KRAB domain-containing protein 4;
DE AltName: Full=KRAB box domain-containing protein 4;
GN Name=KRBOX4; Synonyms=ZNF673;
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 2), ALTERNATIVE SPLICING, AND TISSUE
RP SPECIFICITY.
RX PubMed=11944989; DOI=10.1006/geno.2002.6733;
RA Thiselton D.L., McDowall J., Brandau O., Ramser J., d'Esposito F.,
RA Bhattacharya S.S., Ross M.T., Hardcastle A.J., Meindl A.;
RT "An integrated, functionally annotated gene map of the DXS8026-ELK1
RT interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic
RT disorders.";
RL Genomics 79:560-572(2002).
RN [2]
RP ERRATUM OF PUBMED:11944989.
RA Thiselton D.L., McDowall J., Brandau O., Ramser J., d'Esposito F.,
RA Bhattacharya S.S., Ross M.T., Hardcastle A.J., Meindl A.;
RL Genomics 79:891-891(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Hepatoma;
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 [4]
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 [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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).
CC -!- INTERACTION:
CC Q5JUW0-3; P55212: CASP6; NbExp=3; IntAct=EBI-12893625, EBI-718729;
CC Q5JUW0-3; Q5SUL5: HLA-A; NbExp=3; IntAct=EBI-12893625, EBI-8561769;
CC Q5JUW0-3; Q92993: KAT5; NbExp=3; IntAct=EBI-12893625, EBI-399080;
CC Q5JUW0-3; P25800: LMO1; NbExp=5; IntAct=EBI-12893625, EBI-8639312;
CC Q5JUW0-3; Q8TAP4-4: LMO3; NbExp=6; IntAct=EBI-12893625, EBI-11742507;
CC Q5JUW0-3; O75489: NDUFS3; NbExp=3; IntAct=EBI-12893625, EBI-1224896;
CC Q5JUW0-3; O43741: PRKAB2; NbExp=3; IntAct=EBI-12893625, EBI-1053424;
CC Q5JUW0-3; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-12893625, EBI-5280197;
CC Q5JUW0-3; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-12893625, EBI-9090795;
CC Q5JUW0-3; P61981: YWHAG; NbExp=3; IntAct=EBI-12893625, EBI-359832;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5JUW0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5JUW0-2; Sequence=VSP_018163;
CC Name=3;
CC IsoId=Q5JUW0-3; Sequence=VSP_018164, VSP_018165;
CC -!- TISSUE SPECIFICITY: Expressed in brain, ovary, testis, prostate,
CC tonsil, heart, bone marrow, colon, breast and kidney.
CC {ECO:0000269|PubMed:11944989}.
CC -!- CAUTION: Despite its name, it does not contain a canonical C2H2-type
CC zinc-finger, seems to be a partial inverted duplication of ZNF674.
CC {ECO:0000305}.
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DR EMBL; AK000351; BAA91104.1; -; mRNA.
DR EMBL; AK096413; BAG53284.1; -; mRNA.
DR EMBL; AK289703; BAF82392.1; -; mRNA.
DR EMBL; AL139811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471164; EAW59263.1; -; Genomic_DNA.
DR EMBL; BC012569; AAH12569.1; -; mRNA.
DR CCDS; CCDS14267.1; -. [Q5JUW0-2]
DR CCDS; CCDS48097.1; -. [Q5JUW0-1]
DR CCDS; CCDS48098.1; -. [Q5JUW0-3]
DR RefSeq; NP_001123370.1; NM_001129898.1. [Q5JUW0-1]
DR RefSeq; NP_001123371.1; NM_001129899.1. [Q5JUW0-3]
DR RefSeq; NP_001123372.1; NM_001129900.1.
DR RefSeq; NP_060246.2; NM_017776.2. [Q5JUW0-2]
DR AlphaFoldDB; Q5JUW0; -.
DR SMR; Q5JUW0; -.
DR BioGRID; 120773; 18.
DR IntAct; Q5JUW0; 25.
DR STRING; 9606.ENSP00000345797; -.
DR iPTMnet; Q5JUW0; -.
DR PhosphoSitePlus; Q5JUW0; -.
DR BioMuta; KRBOX4; -.
DR DMDM; 74742348; -.
DR MassIVE; Q5JUW0; -.
DR MaxQB; Q5JUW0; -.
DR PaxDb; Q5JUW0; -.
DR PeptideAtlas; Q5JUW0; -.
DR PRIDE; Q5JUW0; -.
DR ProteomicsDB; 63298; -. [Q5JUW0-1]
DR ProteomicsDB; 63299; -. [Q5JUW0-2]
DR ProteomicsDB; 63300; -. [Q5JUW0-3]
DR Antibodypedia; 57629; 133 antibodies from 21 providers.
DR DNASU; 55634; -.
DR Ensembl; ENST00000298190.10; ENSP00000298190.6; ENSG00000147121.16. [Q5JUW0-2]
DR Ensembl; ENST00000344302.9; ENSP00000345797.4; ENSG00000147121.16. [Q5JUW0-1]
DR Ensembl; ENST00000377919.6; ENSP00000367152.2; ENSG00000147121.16. [Q5JUW0-3]
DR Ensembl; ENST00000487081.1; ENSP00000418076.1; ENSG00000147121.16. [Q5JUW0-3]
DR GeneID; 55634; -.
DR KEGG; hsa:55634; -.
DR MANE-Select; ENST00000344302.9; ENSP00000345797.4; NM_001129898.2; NP_001123370.1.
DR UCSC; uc004dgm.5; human. [Q5JUW0-1]
DR CTD; 55634; -.
DR DisGeNET; 55634; -.
DR GeneCards; KRBOX4; -.
DR HGNC; HGNC:26007; KRBOX4.
DR HPA; ENSG00000147121; Low tissue specificity.
DR MIM; 300585; gene.
DR neXtProt; NX_Q5JUW0; -.
DR OpenTargets; ENSG00000147121; -.
DR PharmGKB; PA142670474; -.
DR VEuPathDB; HostDB:ENSG00000147121; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162233; -.
DR HOGENOM; CLU_002678_69_0_1; -.
DR InParanoid; Q5JUW0; -.
DR OrthoDB; 1328292at2759; -.
DR PhylomeDB; Q5JUW0; -.
DR TreeFam; TF342644; -.
DR PathwayCommons; Q5JUW0; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR SignaLink; Q5JUW0; -.
DR BioGRID-ORCS; 55634; 45 hits in 657 CRISPR screens.
DR ChiTaRS; KRBOX4; human.
DR GenomeRNAi; 55634; -.
DR Pharos; Q5JUW0; Tdark.
DR PRO; PR:Q5JUW0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5JUW0; protein.
DR Bgee; ENSG00000147121; Expressed in body of uterus and 163 other tissues.
DR ExpressionAtlas; Q5JUW0; baseline and differential.
DR Genevisible; Q5JUW0; HS.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IEA:InterPro.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR Pfam; PF01352; KRAB; 1.
DR SMART; SM00349; KRAB; 1.
DR SUPFAM; SSF109640; SSF109640; 1.
DR PROSITE; PS50805; KRAB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..171
FT /note="KRAB domain-containing protein 4"
FT /id="PRO_0000233994"
FT DOMAIN 8..79
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT VAR_SEQ 80..84
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11944989,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_018163"
FT VAR_SEQ 85..98
FT /note="EVWQVDEQIDHYKE -> DVSIFASCILKCCY (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018164"
FT VAR_SEQ 99..171
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_018165"
FT CONFLICT 64
FT /note="E -> G (in Ref. 3; BAA91104)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 171 AA; 20100 MW; EA51AFEFDB5CEE9F CRC64;
MAMSQESLTF KDVFVDFTLE EWQQLDSAQK NLYRDVMLEN YSHLVSVGYL VAKPDVIFRL
GPGEESWMAD GGTPVRTCAG EDRPEVWQVD EQIDHYKESQ DKLPWQAAFI GKETLKDESG
QESRTCRKSI YLSTEFDSVR QRLPKYYSWE KAFKTSFKLS WSKWKLCKKE R
