KRBX1_HUMAN
ID KRBX1_HUMAN Reviewed; 128 AA.
AC C9JBD0; B4DJE8;
DT 08-FEB-2011, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 1.
DT 03-AUG-2022, entry version 88.
DE RecName: Full=KRAB domain-containing protein 1;
GN Name=KRBOX1;
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] (ISOFORM 2).
RC TISSUE=Subthalamic nucleus;
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].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=C9JBD0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=C9JBD0-2; Sequence=VSP_040580;
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DR EMBL; AK296046; BAG58810.1; -; mRNA.
DR EMBL; AC092042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092043; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099329; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64686.1; -; Genomic_DNA.
DR EMBL; BC062786; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS54572.1; -. [C9JBD0-1]
DR RefSeq; NP_001192201.1; NM_001205272.1. [C9JBD0-1]
DR AlphaFoldDB; C9JBD0; -.
DR STRING; 9606.ENSP00000388094; -.
DR BioMuta; KRBOX1; -.
DR MassIVE; C9JBD0; -.
DR PaxDb; C9JBD0; -.
DR PeptideAtlas; C9JBD0; -.
DR PRIDE; C9JBD0; -.
DR Antibodypedia; 63086; 60 antibodies from 12 providers.
DR DNASU; 100506243; -.
DR Ensembl; ENST00000383748.9; ENSP00000373254.5; ENSG00000240747.8. [C9JBD0-1]
DR Ensembl; ENST00000418176.1; ENSP00000388094.1; ENSG00000240747.8. [C9JBD0-1]
DR Ensembl; ENST00000426937.5; ENSP00000413859.1; ENSG00000240747.8. [C9JBD0-1]
DR GeneID; 100506243; -.
DR KEGG; hsa:100506243; -.
DR MANE-Select; ENST00000383748.9; ENSP00000373254.5; NM_001205272.2; NP_001192201.1.
DR UCSC; uc003cmm.5; human. [C9JBD0-1]
DR CTD; 100506243; -.
DR DisGeNET; 100506243; -.
DR GeneCards; KRBOX1; -.
DR HGNC; HGNC:38708; KRBOX1.
DR HPA; ENSG00000240747; Tissue enriched (testis).
DR neXtProt; NX_C9JBD0; -.
DR OpenTargets; ENSG00000240747; -.
DR VEuPathDB; HostDB:ENSG00000240747; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000163819; -.
DR HOGENOM; CLU_002678_69_10_1; -.
DR InParanoid; C9JBD0; -.
DR OMA; KEWAMMV; -.
DR PhylomeDB; C9JBD0; -.
DR TreeFam; TF342644; -.
DR PathwayCommons; C9JBD0; -.
DR BioGRID-ORCS; 100506243; 8 hits in 1065 CRISPR screens.
DR ChiTaRS; KRBOX1; human.
DR GenomeRNAi; 100506243; -.
DR Pharos; C9JBD0; Tdark.
DR PRO; PR:C9JBD0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; C9JBD0; protein.
DR Bgee; ENSG00000240747; Expressed in right testis and 94 other tissues.
DR ExpressionAtlas; C9JBD0; baseline and differential.
DR Genevisible; C9JBD0; 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 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..128
FT /note="KRAB domain-containing protein 1"
FT /id="PRO_0000404593"
FT DOMAIN 15..86
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT VAR_SEQ 94..128
FT /note="YLELRRYTYLAKAVLRRIVSKIFRNRQCWEDRRKA -> PRPLGSLLLWLRA
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040580"
SQ SEQUENCE 128 AA; 14906 MW; C3DFD424AE110E16 CRC64;
MMTAVSLTTR PQESVAFEDV AVYFTTKEWA IMVPAERALY RDVMLENYEA VAFVVPPTSK
PALVSHLEQG KESCFTQPQG VLSRNDWRAG WIGYLELRRY TYLAKAVLRR IVSKIFRNRQ
CWEDRRKA
