LOCUS       NM_001129898            2334 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens KRAB box domain containing 4 (KRBOX4), transcript
            variant 1, mRNA.
ACCESSION   NM_001129898
VERSION     NM_001129898.2
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  (bases 1 to 2334)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2334)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2334)
  AUTHORS   Lugtenberg,D., Yntema,H.G., Banning,M.J., Oudakker,A.R.,
            Firth,H.V., Willatt,L., Raynaud,M., Kleefstra,T., Fryns,J.P.,
            Ropers,H.H., Chelly,J., Moraine,C., Gecz,J., van Reeuwijk,J.,
            Nabuurs,S.B., de Vries,B.B., Hamel,B.C., de Brouwer,A.P. and van
            Bokhoven,H.
  TITLE     ZNF674: a new kruppel-associated box-containing zinc-finger gene
            involved in nonsyndromic X-linked mental retardation
  JOURNAL   Am J Hum Genet 78 (2), 265-278 (2006)
   PUBMED   16385466
  REMARK    Erratum:[Am J Hum Genet. 2006 May;78(5):897]
REFERENCE   4  (bases 1 to 2334)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
REFERENCE   5  (bases 1 to 2334)
  AUTHORS   Thiselton,D.L., McDowall,J., Brandau,O., Ramser,J., d'Esposito,F.,
            Bhattacharya,S.S., Ross,M.T., Hardcastle,A.J. and Meindl,A.
  TITLE     An integrated, functionally annotated gene map of the DXS8026-ELK1
            interval on human Xp11.3-Xp11.23: potential hotspot for
            neurogenetic disorders
  JOURNAL   Genomics 79 (4), 560-572 (2002)
   PUBMED   11944989
  REMARK    Erratum:[Genomics 2002 Jun;79(6):891]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096413.1, AL139811.30 and
            AK000351.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001129898.1.
            
            Summary: This encodes a zinc finger protein with an N-terminal KRAB
            (Kruppel-associated) domain found in transcriptional repressors.
            This gene is located in a region of the X chromosome thought to be
            involved in nonsyndromic X-linked cognitive disability. Multiple
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and it encodes the longest protein (isoform 1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            transcript and genomic sequence to make the sequence consistent
            with the reference genome assembly. The genomic coordinates used
            for the transcript record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK096413.1, SRR1803614.35572.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344302.9/ ENSP00000345797.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-444               AK096413.1         1-444
            445-2297            AL139811.30        134046-135898
            2298-2334           AK000351.1         2256-2292
FEATURES             Location/Qualifiers
     source          1..2334
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..2334
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="KRAB box domain containing 4"
                     /db_xref="GeneID:55634"
                     /db_xref="HGNC:HGNC:26007"
                     /db_xref="MIM:300585"
     exon            1..50
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     exon            51..161
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     exon            162..206
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     CDS             192..707
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative zinc finger transcription factor; zinc finger
                     protein 673; zinc finger family member 673; KRAB box
                     domain-containing protein 4; KRAB domain-containing
                     protein 4"
                     /codon_start=1
                     /product="KRAB domain-containing protein 4 isoform 1"
                     /protein_id="NP_001123370.1"
                     /db_xref="CCDS:CCDS48097.1"
                     /db_xref="GeneID:55634"
                     /db_xref="HGNC:HGNC:26007"
                     /db_xref="MIM:300585"
                     /translation="MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHL
                     VSVGYLVAKPDVIFRLGPGEESWMADGGTPVRTCAGEDRPEVWQVDEQIDHYKESQDK
                     LPWQAAFIGKETLKDESGQESRTCRKSIYLSTEFDSVRQRLPKYYSWEKAFKTSFKLS
                     WSKWKLCKKER"
     exon            207..333
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     exon            334..444
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     exon            445..2334
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1204..1209
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="hexamer: AATAAA"
     polyA_site      1233
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="major polyA site"
     regulatory      1259..1264
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="hexamer: CATAAA"
     polyA_site      1277
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="major polyA site"
     regulatory      1882..1887
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="hexamer: AATAAA"
     polyA_site      1900
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
     regulatory      2200..2205
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="hexamer: ATTAAA"
     polyA_site      2222
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="major polyA site"
     regulatory      2314..2319
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
                     /note="hexamer: AATAAA"
     polyA_site      2334
                     /gene="KRBOX4"
                     /gene_synonym="ZNF673"
ORIGIN      
        1 acactggctg ttgtcagcgg cctctgaggt ttcaggctct tggcggtgaa ggtcagagtg
       61 cagacctgag accactgctc accgacttca gactccagtt tatctgtgcc ccagcttcct
      121 cacttagtct cagaagactt aggctgaggc ctcagaagga gatctccatc ctttgtccag
      181 agcagaacag gatggccatg tcccaggaat cattgacctt caaggacgtg tttgtggact
      241 tcaccctgga ggagtggcag caactggact ctgcccagaa gaacctctac agggatgtca
      301 tgcttgagaa ctacagccac ctggtgtccg tggggtatct agttgcgaag ccagatgtga
      361 tcttcaggtt gggaccaggt gaagagtcct ggatggcaga tggggggacc ccggtacgga
      421 cctgtgcagg tgaggacagg ccagaagtct ggcaagttga tgagcagata gatcactaca
      481 aggaaagcca agacaaactt ccttggcaag ctgcattcat aggcaaggaa acactgaagg
      541 atgaaagcgg tcaagaatcc agaacatgta gaaaaagcat ttatctgagc acagaatttg
      601 attctgtaag gcaaagactc cctaaatatt attcgtggga aaaggcattc aaaacatcat
      661 ttaaactttc ttggtcaaaa tggaagctat gtaagaaaga aagatgatgg atgtaaagca
      721 tattggaaag tatgcttcca ttataatctt cataaagctc aacctgcaga gagatttttt
      781 gaccctaatc aacgagggaa agccctccac caaaagcaag cccttagaaa aagtcagaga
      841 agtcaaactg gggagaaact ctacaaatgt actgaatgtg gaaaagtgtt tatccagaaa
      901 gcaaacttag ttgtacatca aagaactcac accggagaga aaccttatga atgctgcgaa
      961 tgtgcaaaag ccttcagcca gaagtcaacc ctcatagcac accagagaac tcacacaggg
     1021 gagaagccct atgaatgcag tgaatgtgga aaaaccttta tccagaagtc aactctgatt
     1081 aaacataaga aaattcatat ggagagagac cctataaatg cagtgtctgt gagaaagcct
     1141 tcagtaggaa gtcaactctc attaaacatc agataattca tatgggagaa accttatgaa
     1201 tgtaataaat gtgggaaatc ttttagtgtt aaatcaactc tcattgtatg tcacagaaca
     1261 taaatgcata agttgcatgc tattgtgaat agtgtgatga aattttgcac tgtcctgctc
     1321 tttcctgctc aggatgcaaa tcagtgaatc tttttttttt tttttttgag acagagtctt
     1381 gctctgtcat ccaaactgga gtgcagtggc acaatcttgg ctcactgcaa cctccgcctc
     1441 ttgggttcaa ccgattctcc tgcctcaacc tcccaaatag ttgggattac aggcacatgc
     1501 caccatacgc agctaatttg tatttttagt agagacaggg tttcaccatg ttggccagcc
     1561 tggtcttgaa ctcctgacct caagtgatcc gcctgcctca gcttcccaaa gtgctgggat
     1621 tacaggcatg agccactgca cccggcttga atcatccttt tgtccagtat tatatccatg
     1681 ctgtatatgc tacccgccca ctagtccctt agctgtctca gttgtcagat tgactgtcat
     1741 gggattgcag tgcttgcatt aaagctaccc ttattgtata atgaccccaa agtgcaagag
     1801 tagtgatgtt ggcaatttgc atacaccaaa aataagttat aaagtgcttc cttaaagtga
     1861 aatggttaaa gttcttgact taataaagaa aaaaaatgta tgctgaggtt gttaagattt
     1921 acagtaagaa tgaatcttct atccaagaaa ttgtgaagga ggaaaaagaa acttgtgcta
     1981 gttttgctgt cacatctgaa actgcaaaag ttgtggccac agtgcatcat aagtgctaag
     2041 acgaaaaaga cattaaattt gcggatggaa ggcgtgaata gaaatgggtt ctgacagcaa
     2101 tcaggttcgg tactattcac agtttcaggc atccgctagg gatcttggaa catatccccc
     2161 atggataagg gaggggtact gtaccttgtc atattgtgca ttaaagaatt cattgagtgt
     2221 aatcatgtaa gtctaacaca catttaaaaa gctctcagat atcatttcgc cttcggttga
     2281 tgtaagaaaa ttcaaaagct actcaaatca ttcaataaat gataaaatta ttta
//
