ID HMGIC_HUMAN STANDARD; PRT; 109 AA. AC P52926; DT 01-OCT-1996 (Rel. 34, Created) DT 01-OCT-1996 (Rel. 34, Last sequence update) DT 01-MAY-2005 (Rel. 47, Last annotation update) DE High mobility group protein HMGI-C (High mobility group AT-hook 2). GN Name=HMGA2; Synonyms=HMGIC; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE. RC TISSUE=Hepatoma; RX MEDLINE=94257023; PubMed=8198613; RA Patel U.A., Bandiera A., Manfioletti G., Giancotti V., Chau K.-Y., RA Crane-Robinson C.; RT "Expression and cDNA cloning of human HMGI-C phosphoprotein."; RL Biochem. Biophys. Res. Commun. 201:63-70(1994). RN [2] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=96091170; PubMed=7501444; RA Chau K.-Y., Patel U.A., Lee K.-L.D., Lam H.-Y.P., Crane-Robinson C.; RT "The gene for the human architectural transcription factor HMGI-C RT consists of five exons each coding for a distinct functional RT element."; RL Nucleic Acids Res. 23:4262-4266(1995). RN [3] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=95400325; PubMed=7670494; RA Schoenmakers E.F.P.M., Wanschura S., Mols R., Bullerdiek J., RA van den Berghe H., van de Ven W.J.M.; RT "Recurrent rearrangements in the high mobility group protein gene, RT HMGI-C, in benign mesenchymal tumours."; RL Nat. Genet. 10:436-444(1995). RN [4] RP NUCLEOTIDE SEQUENCE. RX MEDLINE=96422186; PubMed=8824803; DOI=10.1006/geno.1996.0033; RA Ashar H.R., Cherath L., Przysybz K., Chada K.; RT "Genomic characterization of human HMGIC, a member of the accessory RT transcription factor family found at translocation breakpoints in RT lipomas."; RL Genomics 31:207-214(1996). RN [5] RP CHROMOSOMAL TRANSLOCATION WITH RAD51L1. RX MEDLINE=99107195; PubMed=9892177; RA Schoenmakers E.F.P.M., Huysmans C., Van de Ven W.J.M.; RT "Allelic knockout of novel splice variants of human recombination RT repair gene RAD51B in t(12;14) uterine leiomyomas."; RL Cancer Res. 59:19-23(1999). RN [6] RP CHROMOSOMAL TRANSLOCATION WITH RAD51L1. RX MEDLINE=22535398; PubMed=12649198; RA Quade B.J., Weremowicz S., Neskey D.M., Vanni R., Ladd C., Dal Cin P., RA Morton C.C.; RT "Fusion transcripts involving HMGA2 are not a common molecular RT mechanism in uterine leiomyomata with rearrangements in 12q15."; RL Cancer Res. 63:1351-1358(2003). CC -!- FUNCTION: Involved in transcription regulation. CC -!- SUBCELLULAR LOCATION: Nuclear. CC -!- DEVELOPMENTAL STAGE: Expressed predominantly during embryogenesis. CC -!- PTM: Regulated by cell cycle-dependent phosphorylation which CC alters its DNA binding affinity. CC -!- DISEASE: HMGIC is fused with a number of other genes in lipomas. CC -!- DISEASE: Involved in uterine leiomyoma through a chromosomal CC translocation t(12;14)(q15;q23-24) that involves HMGA2 and CC RAD51L1. CC -!- SIMILARITY: Contains 3 A.T hook DNA-binding repeats. CC -!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.; CC WWW="http://www.infobiogen.fr/services/chromcancer/Genes/HMGICID82.html". CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L46353; AAA96484.1; -. DR EMBL; L41044; AAA96484.1; JOINED. DR EMBL; L44578; AAA96484.1; JOINED. DR EMBL; Z31595; CAA83472.1; -. DR EMBL; U28749; AAA68613.1; -. DR EMBL; U28754; AAA68614.1; -. DR EMBL; U28750; AAA68614.1; JOINED. DR EMBL; U28751; AAA68614.1; JOINED. DR EMBL; U28752; AAA68614.1; JOINED. DR EMBL; U28753; AAA68614.1; JOINED. DR EMBL; X92518; CAA63295.1; -. DR PIR; JC2232; JC2232. DR TRANSFAC; T01859; -. DR Ensembl; ENSG00000149948; Homo sapiens. DR Genew; HGNC:5009; HMGA2. DR MIM; 600698; -. DR GO; GO:0003680; F:AT DNA binding; TAS. DR GO; GO:0007275; P:development; TAS. DR GO; GO:0006325; P:establishment and/or maintenance of chromat...; TAS. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; TAS. DR InterPro; IPR000637; A+T_hook. DR InterPro; IPR000116; Highmoblty_IY. DR Pfam; PF02178; AT_hook; 3. DR PRINTS; PR00929; ATHOOK. DR ProDom; PD005593; Highmoblty_IY; 1. DR PROSITE; PS00354; HMGI_Y; 2. KW Chromosomal protein; Chromosomal translocation; DNA-binding; KW Nuclear protein; Phosphorylation; Proto-oncogene; Repeat; KW Transcription regulation. FT DNA_BIND 24 34 A.T hook 1. FT DNA_BIND 44 54 A.T hook 2. FT DNA_BIND 71 82 A.T hook 3. SQ SEQUENCE 109 AA; 11832 MW; F36BABE623DA4615 CRC64; MSARGEGAGQ PSTSAQGQPA APAPQKRGRG RPRKQQQEPT GEPSPKRPRG RPKGSKNKSP SKAAQKKAEA TGEKRPRGRP RKWPQQVVQK KPAQEETEET SSQESAEED //