LOCUS       NP_055138                687 aa            linear   PRI 28-APR-2025
DEFINITION  POZ-, AT hook-, and zinc finger-containing protein 1 isoform long C
            [Homo sapiens].
ACCESSION   NP_055138
VERSION     NP_055138.2
DBSOURCE    REFSEQ: accession NM_014323.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 687)
  AUTHORS   Patel,S., Ganbold,K., Cho,C.H., Siddiqui,J., Yildiz,R., Sparman,N.,
            Sadeh,S., Nguyen,C.M., Wang,J., Whitelegge,J.P., Fried,S.K.,
            Waki,H., Villanueva,C.J., Seldin,M.M., Sakaguchi,S., Ellmeier,W.,
            Tontonoz,P. and Rajbhandari,P.
  TITLE     Transcription factor PATZ1 promotes adipogenesis by controlling
            promoter regulatory loci of adipogenic factors
  JOURNAL   Nat Commun 15 (1), 8533 (2024)
   PUBMED   39358382
  REMARK    GeneRIF: Transcription factor PATZ1 promotes adipogenesis by
            controlling promoter regulatory loci of adipogenic factors.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 687)
  AUTHORS   Huang,M., Liao,X., Wang,X., Qian,Y., Zhang,W., Chen,G. and Wu,Q.
  TITLE     POZ/BTB and AT hook containing zinc finger 1 (PATZ1) suppresses
            differentiation and regulates metabolism in human embryonic stem
            cells
  JOURNAL   Int J Biol Sci 20 (4), 1142-1159 (2024)
   PUBMED   38385086
  REMARK    GeneRIF: POZ/BTB and AT hook containing zinc finger 1 (PATZ1)
            suppresses differentiation and regulates metabolism in human
            embryonic stem cells.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 687)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   4  (residues 1 to 687)
  AUTHORS   Alhalabi,K.T., Stichel,D., Sievers,P., Peterziel,H.,
            Sommerkamp,A.C., Sturm,D., Wittmann,A., Sill,M., Jager,N., Beck,P.,
            Pajtler,K.W., Snuderl,M., Jour,G., Delorenzo,M., Martin,A.M.,
            Levy,A., Dalvi,N., Hansford,J.R., Gottardo,N.G., Uro-Coste,E.,
            Maurage,C.A., Godfraind,C., Vandenbos,F., Pietsch,T., Kramm,C.,
            Filippidou,M., Kattamis,A., Jones,C., Ora,I., Mikkelsen,T.S.,
            Zapotocky,M., Sumerauer,D., Scheie,D., McCabe,M., Wesseling,P.,
            Tops,B.B.J., Kranendonk,M.E.G., Karajannis,M.A., Bouvier,N.,
            Papaemmanuil,E., Dohmen,H., Acker,T., von Hoff,K., Schmid,S.,
            Miele,E., Filipski,K., Kitanovski,L., Krskova,L., Gojo,J.,
            Haberler,C., Alvaro,F., Ecker,J., Selt,F., Milde,T., Witt,O.,
            Oehme,I., Kool,M., von Deimling,A., Korshunov,A., Pfister,S.M.,
            Sahm,F. and Jones,D.T.W.
  TITLE     PATZ1 fusions define a novel molecularly distinct neuroepithelial
            tumor entity with a broad histological spectrum
  JOURNAL   Acta Neuropathol 142 (5), 841-857 (2021)
   PUBMED   34417833
  REMARK    GeneRIF: PATZ1 fusions define a novel molecularly distinct
            neuroepithelial tumor entity with a broad histological spectrum.
REFERENCE   5  (residues 1 to 687)
  AUTHORS   Rossi,S., Barresi,S., Giovannoni,I., Alesi,V., Ciolfi,A.,
            Colafati,G.S., Diomedi-Camassei,F., Miele,E., Cacchione,A.,
            Quacquarini,D., Carai,A., Tartaglia,M., Giannini,C.,
            Giangaspero,F., Mastronuzzi,A. and Alaggio,R.
  TITLE     Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An
            infantile case with leptomeningeal dissemination
  JOURNAL   Brain Pathol 31 (3), e12934 (2021)
   PUBMED   33378126
  REMARK    GeneRIF: Expanding the spectrum of EWSR1-PATZ1 rearranged CNS
            tumors: An infantile case with leptomeningeal dissemination.
REFERENCE   6  (residues 1 to 687)
  AUTHORS   Mitchelmore,C., Kjaerulff,K.M., Pedersen,H.C., Nielsen,J.V.,
            Rasmussen,T.E., Fisker,M.F., Finsen,B., Pedersen,K.M. and
            Jensen,N.A.
  TITLE     Characterization of two novel nuclear BTB/POZ domain zinc finger
            isoforms. Association with differentiation of hippocampal neurons,
            cerebellar granule cells, and macroglia
  JOURNAL   J Biol Chem 277 (9), 7598-7609 (2002)
   PUBMED   11744704
  REMARK    GeneRIF: We report here the isolation and characterization of two
            novel nuclear BTB/POZ domain zinc finger isoformsthat are
            specifically expressed in early hippocampal neurons, cerebellar
            granule cells, and gliogenic progenitors as well as in
            differentiated glia
REFERENCE   7  (residues 1 to 687)
  AUTHORS   Pero,R., Lembo,F., Palmieri,E.A., Vitiello,C., Fedele,M., Fusco,A.,
            Bruni,C.B. and Chiariotti,L.
  TITLE     PATZ attenuates the RNF4-mediated enhancement of androgen
            receptor-dependent transcription
  JOURNAL   J Biol Chem 277 (5), 3280-3285 (2002)
   PUBMED   11719514
REFERENCE   8  (residues 1 to 687)
  AUTHORS   Mastrangelo,T., Modena,P., Tornielli,S., Bullrich,F., Testi,M.A.,
            Mezzelani,A., Radice,P., Azzarelli,A., Pilotti,S., Croce,C.M.,
            Pierotti,M.A. and Sozzi,G.
  TITLE     A novel zinc finger gene is fused to EWS in small round cell tumor
  JOURNAL   Oncogene 19 (33), 3799-3804 (2000)
   PUBMED   10949935
  REMARK    GeneRIF: The short isoform of the Zinc finger Sarcoma Gene (ZSG)
            was isolated as a RNF4 interacting protein.
REFERENCE   9  (residues 1 to 687)
  AUTHORS   Fedele,M., Benvenuto,G., Pero,R., Majello,B., Battista,S.,
            Lembo,F., Vollono,E., Day,P.M., Santoro,M., Lania,L., Bruni,C.B.,
            Fusco,A. and Chiariotti,L.
  TITLE     A novel member of the BTB/POZ family, PATZ, associates with the
            RNF4 RING finger protein and acts as a transcriptional repressor
  JOURNAL   J Biol Chem 275 (11), 7894-7901 (2000)
   PUBMED   10713105
REFERENCE   10 (residues 1 to 687)
  AUTHORS   Kobayashi,A., Yamagiwa,H., Hoshino,H., Muto,A., Sato,K., Morita,M.,
            Hayashi,N., Yamamoto,M. and Igarashi,K.
  TITLE     A combinatorial code for gene expression generated by transcription
            factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ
            domain
  JOURNAL   Mol Cell Biol 20 (5), 1733-1746 (2000)
   PUBMED   10669750
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005003.2, AF119256.1,
            AF254085.1 and AL096880.1.
            
            On Jul 11, 2001 this sequence version replaced NP_055138.1.
            
            Summary: The protein encoded by this gene contains an A-T hook DNA
            binding motif which usually binds to other DNA binding structures
            to play an important role in chromatin modeling and transcription
            regulation. Its Poz domain is thought to function as a site for
            protein-protein interaction and is required for transcriptional
            repression, and the zinc-fingers comprise the DNA binding domain.
            Since the encoded protein has typical features of a transcription
            factor, it is postulated to be a repressor of gene expression. In
            small round cell sarcoma, this gene is fused to EWS by a small
            inversion of 22q, then the hybrid is thought to be translocated
            (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves
            intron 8 of EWS and exon 1 of this gene creating a chimeric
            sequence containing the transactivation domain of EWS fused to zinc
            finger domain of this protein. This is a distinct example of an
            intra-chromosomal rearrangement of chromosome 22. Four
            alternatively spliced transcript variants are described for this
            gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (long C isoform).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.483050.1, AF254085.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266269.10/ ENSP00000266269.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..687
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.2"
     Protein         1..687
                     /product="POZ-, AT hook-, and zinc finger-containing
                     protein 1 isoform long C"
                     /note="zinc finger protein 278; POZ-AT hook-zinc finger
                     protein; MAZ-related factor; POZ-, AT hook-, and zinc
                     finger-containing protein 1; BTB-POZ domain zinc finger
                     transcription factor; zinc finger sarcoma gene protein;
                     zinc finger and BTB domain-containing protein 19; protein
                     kinase A RI subunit alpha-associated protein"
                     /calculated_mol_wt=73929
     Region          14..162
                     /region_name="BTB_POZ_ZBTB19_PATZ1"
                     /note="BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ
                     (poxvirus and zinc finger) domain found in POZ-, AT hook-,
                     and zinc finger-containing protein 1 (PATZ1); cd18207"
                     /db_xref="CDD:349516"
     Region          264..272
                     /region_name="A-T hook domain"
     Site            282
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9HBE1.1)"
     Region          294..628
                     /region_name="Zn finger DNA binding domain"
     Region          294..314
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          357..377
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Site            order(362,364,366,368..369,372..373,376,390,392,396..397,
                     400..401,404,420,422,424,426..427,430..431)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          369..394
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:463886"
     Region          <381..518
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          385..405
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          415..433
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          444..464
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          497..517
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          535..604
                     /region_name="zf-C2H2_assoc3"
                     /note="Putative zinc-finger between two C2H2 zinc-fingers
                     on Patz; pfam16637"
                     /db_xref="CDD:465210"
     Region          607..628
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275370"
     CDS             1..687
                     /gene="PATZ1"
                     /gene_synonym="dJ400N23; MAZR; PATZ; RIAZ; ZBTB19; ZNF278;
                     ZSG"
                     /coded_by="NM_014323.3:745..2808"
                     /note="isoform long C is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS13894.1"
                     /db_xref="GeneID:23598"
                     /db_xref="HGNC:HGNC:13071"
                     /db_xref="MIM:605165"
ORIGIN      
        1 mervndascg psgcytyqvs rhstemlhnl nqqrknggrf cdvllrvgde sfpahravla
       61 acseyfesvf saqlgdggaa dggpadvgga taapgggagg srelemhtis skvfgdildf
      121 aytsrivvrl esfpelmtaa kfllmrsvie icqevikqsn vqilvppara dimlfrppgt
      181 sdlgfpldmt ngaalaansn giagsmqpee eaaraagaai agqaslpvlp gvdrlpmvag
      241 plspqlltsp fpsvassapp ltgkrgrgrp rkanlldsmf gspgglreag ilpcglcgkv
      301 ftdanrlrqh eaqhgvtslq lgyidlpppr lgenglpise dpdgprkrsr trkqvaceic
      361 gkifrdvyhl nrhklshsge kpyscpvcgl rfkrkdrmsy hvrshdgsvg kpyicqscgk
      421 gfsrpdhlng hikqvhtser phkcqtcnas fatrdrlrsh lachedkvpc qvcgkylraa
      481 ymadhlkkhs egpsnfcsic nrgfssasyl kvhvkthhgv plpqvsrhqe pilnggaafh
      541 cartygnkeg qkcshqdpie ssdsygdlsd asdlktpekq sangsfscdm avpknkmesd
      601 gekkypcpec gsffrsksyl nkhiqkvhvr alggplgdlg palgspfspq qnmsllesfg
      661 fqivqsafas slvdpevdqq pmgpegk
//
