LOCUS       NM_001282201            3475 bp    mRNA    linear   PRI 14-FEB-2024
DEFINITION  Homo sapiens zinc finger protein 630 (ZNF630), transcript variant
            3, mRNA.
ACCESSION   NM_001282201 NR_033730
VERSION     NM_001282201.2
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 3475)
  AUTHORS   Lugtenberg,D., Zangrande-Vieira,L., Kirchhoff,M., Whibley,A.C.,
            Oudakker,A.R., Kjaergaard,S., Vianna-Morgante,A.M., Kleefstra,T.,
            Ruiter,M., Jehee,F.S., Ullmann,R., Schwartz,C.E., Stratton,M.,
            Raymond,F.L., Veltman,J.A., Vrijenhoek,T., Pfundt,R.,
            Schuurs-Hoeijmakers,J.H., Hehir-Kwa,J.Y., Froyen,G., Chelly,J.,
            Ropers,H.H., Moraine,C., Gecz,J., Knijnenburg,J., Kant,S.G.,
            Hamel,B.C., Rosenberg,C., van Bokhoven,H. and de Brouwer,A.P.
  TITLE     Recurrent deletion of ZNF630 at Xp11.23 is not associated with
            mental retardation
  JOURNAL   Am J Med Genet A 152A (3), 638-645 (2010)
   PUBMED   20186789
  REMARK    GeneRIF: Detected 12 ZNF630 deletions in a total of 1,562 male
            patients with mental retardation from Brazil, USA, Australia, and
            Europe. The breakpoints were analyzed in 10 families, and in all
            cases they were located within two segmental duplications.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC244636.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 6, 2019 this sequence version replaced NM_001282201.1.
            
            Summary: This gene encodes a protein containing an N-terminal
            Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type
            C2H2 zinc finger domains. This gene resides on an area of
            chromosome X that has been implicated in nonsyndromic X-linked
            cognitive disability. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 3 encode the same isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            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 :: SRR14038194.2373255.1,
                                           SRR18074967.1410521.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000276054.9/ ENSP00000354683.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-374               AC244636.2         101912-102285
            375-564             AC244636.2         106491-106680
            565-691             AC244636.2         112607-112733
            692-787             AC244636.2         113007-113102
            788-3475            AC244636.2         113349-116036
FEATURES             Location/Qualifiers
     source          1..3475
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..3475
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="zinc finger protein 630"
                     /db_xref="GeneID:57232"
                     /db_xref="HGNC:HGNC:28855"
                     /db_xref="MIM:300819"
     exon            1..374
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            375..564
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             550..2523
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="isoform 1 is encoded by transcript variant 3;
                     dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger
                     protein)"
                     /codon_start=1
                     /product="zinc finger protein 630 isoform 1"
                     /protein_id="NP_001269130.1"
                     /db_xref="CCDS:CCDS35237.2"
                     /db_xref="GeneID:57232"
                     /db_xref="HGNC:HGNC:28855"
                     /db_xref="MIM:300819"
                     /translation="MIESQEPVTFEDVAVDFTQEEWQQLNPAQKTLHRDVMLETYNHL
                     VSVGCSGIKPDVIFKLEHGKDPWIIESELSRWIYPDRVKGLESSQQIISGELLFQREI
                     LERAPKDNSLYSVLKIWHIDNQMDRYQGNQDRVLRQVTVISRETLTDEMGSKYSAFGK
                     MFNRCTDLAPLSQKFHKFDSCENSLKSNSDLLNYNRSYARKNPTKRFRCGRPPKYNAS
                     CSVPEKEGFIHTGMEPYGDSQCEKVLSHKQAHVQYKKFQAREKPNVCSMCGKAFIKKS
                     QLIIHQRIHTGEKPYVCGDCRKAFSEKSHLIVHQRIHTGEKPYECTKYGRAFSRKSPF
                     TVHQRVHTGEKPYECFECPKAFSQKSHLIIHQRVHTREKPFECSECRKAFCEMSHLFI
                     HQITHTGKKPYECTECGKTFPRKTQLIIHQRTHTGEKPYKCGECGKTFCQQSHLIGHQ
                     RIHTGEKPYVCTDCGKAFSQKSHLTGHQRLHTGEKPYMCTECGKSFSQKSPLIIHQRI
                     HTGEKPYQCGECGKTFSQKSLLIIHLRVHTGEKPYECTECGRAFSLKSHLILHQRGHT
                     GEKPYECSECGKAFCGKSPLIIHQKTHPREKTPECAESGMTFFWKSQMITYQRRHTGE
                     KPSRCSDCGKAFCQHVYFTGHQNPYRKDTLYIC"
     exon            565..691
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            692..787
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /inference="alignment:Splign:2.1.0"
     exon            788..3475
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2749..2754
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="hexamer: AATAAA"
     polyA_site      2777
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="major polyA site"
     regulatory      2796..2801
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="hexamer: ATTAAA"
     polyA_site      2813
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
     regulatory      3319..3324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="hexamer: AATATA"
     polyA_site      3344
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
     regulatory      3438..3443
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
                     /note="hexamer: AATAAA"
     polyA_site      3475
                     /gene="ZNF630"
                     /gene_synonym="dJ54B20.2"
ORIGIN      
        1 cactcacccg gacaagtcgc ggcccttcca agcctcacac tgctttcgta ggatcaattc
       61 cgaataccca aactcggaga tatcacgagg actcccccgg gcccccaaac gcacctctcc
      121 tctggctgga atgggagcct ccagaagcag tgcgagacca cggccagcga cagaggtcct
      181 ggcgctggcg gaatgacgcc atttttgtta ctggtagagc tcggcttcgt ggctgtttcg
      241 gagccaccga aagataagct ccctcgtcac cctgacatct ctccgggaag actggaaggg
      301 aaatggcctt tcgggggatg ttgaacgcat ttgggcaggc ggggagccaa gcccggcttg
      361 agagcagagc cggggacgaa gttccggaaa tggaattacc gagtcagatg agaaacacaa
      421 gtcatcaatg aattaacaag caacacattg tcacatccag ctgttgaaga gtggttaact
      481 cagcttgatc tccgaagact cttctgcacc ccaccccgcc cccaactgct ttccaaagag
      541 aaacagaaaa tgattgagtc ccaggaacca gtgacatttg aggatgtggc tgtggacttc
      601 acgcaggaag agtggcagca gttgaatcct gctcagaaga ccctgcatag ggatgtgatg
      661 ctggagacct ataatcacct ggtctccgtg gggtgttcag gtataaaacc agatgtaatc
      721 tttaagttgg aacatggaaa ggacccatgg atcatagaga gtgagttgtc aaggtggatc
      781 tacccagaca gagtgaaagg ccttgaatct tcccagcaga tcatttctgg agaactttta
      841 tttcaaaggg agatactaga aagagcccca aaggataatt cattgtactc tgttttaaaa
      901 atctggcata ttgataatca gatggataga tatcaaggaa atcaagacag agttttgagg
      961 caggtcacag tcatcagtcg tgaaacattg actgatgaga tgggttccaa gtacagtgca
     1021 tttgggaaaa tgttcaatcg gtgcacagac cttgctcctt taagtcaaaa attccataag
     1081 tttgattcat gtgaaaatag cttgaagtct aattcagact tactaaatta taacaggagc
     1141 tatgcaagaa agaaccccac taagagattt agatgtggga gaccacctaa gtataatgct
     1201 tcctgttctg tgcctgagaa ggaaggcttc attcatactg gaatggagcc ctatggagat
     1261 agtcaatgtg aaaaagttct cagtcataag caagcccatg ttcagtataa gaaatttcaa
     1321 gccagagaga aacccaatgt ttgtagtatg tgtgggaaag cctttatcaa gaagtcacag
     1381 ctcattatac atcaaagaat tcatactgga gagaaaccat atgtatgtgg agattgtagg
     1441 aaagccttca gtgagaaatc acacctcatt gtgcatcaga ggattcatac tggggagaaa
     1501 ccctatgaat gtactaagta tggaagagca ttctcccgga agtcaccttt cactgttcat
     1561 cagagagtcc atactggaga gaaaccctat gagtgttttg agtgtccaaa agctttctcc
     1621 cagaagtcac atctaattat acatcagaga gttcatacca gagagaagcc ctttgaatgc
     1681 agtgaatgca ggaaagcctt ctgtgagatg tctcaccttt ttatacacca gataactcat
     1741 actgggaaga agccctatga atgtactgaa tgtgggaaga ccttccctcg gaaaacacag
     1801 ctcattatac atcagagaac gcatactgga gagaagccct ataagtgtgg tgaatgtggg
     1861 aaaactttct gccaacagtc ccacctcata ggacatcaaa gaattcatac aggagaaaaa
     1921 ccttatgtgt gtactgactg tgggaaggcc ttttcccaga agtcacacct cactggccat
     1981 caaagacttc atactggaga gaaaccttat atgtgtactg aatgtggaaa atccttctct
     2041 cagaaatcac ctcttatcat acaccagaga attcatacag gggagaaacc ttatcagtgt
     2101 ggtgaatgtg gcaaaacctt ctcccagaaa tcactcctca ttattcatct gagagttcac
     2161 acaggggaga aaccttatga gtgtactgag tgtgggaggg ccttttccct gaagtcacat
     2221 ctcattctac atcagagagg tcatactgga gagaaaccct atgaatgtag tgaatgtgga
     2281 aaggccttct gtggaaagtc tccactcatt atacatcaga aaactcatcc tagggagaaa
     2341 acccctgaat gtgctgagtc tggaatgact tttttctgga aatcacagat gattacatat
     2401 cagagaagac acactgggga gaaaccctcc agatgcagtg actgtgggaa ggcattctgc
     2461 cagcatgtat actttactgg gcatcagaat ccatatagga aagacacctt gtatatatgc
     2521 tgattgtggg aaggcctatt cccagaagtc agtcctcatt gtctatggga aaactcacat
     2581 tgaatagaaa tagtgacaac ttctcaactg tagaatagac taatatgttc ctcagtatac
     2641 atgattaccc ttccacagaa tgatctgctt aggccctcag aatattttca acatcacaaa
     2701 tatggaatca atttgctcac cctcaaactg tctcagccct cttcacagaa taaatgtatc
     2761 tggaagaatt agcactactt tggtgttgtt tggtcattaa atgctttata gaattctctt
     2821 gtgaatttat ttgggcatgg tgcattattt gaagggtatc tctttgtcat ctttctctat
     2881 tttttccata tttttctgtt tagattatat atgcatttat gtatttattt attttgagat
     2941 ggagtctcgc tctgttaccc aggctggagt gcagtggcgt gatcttggct cactgcaacc
     3001 tccacctcct aggtttgagc gattgtcctg cctcgccctc tcgagtagct gggattatag
     3061 gcatgcacca ccaggcccgg ctaatttttg tatttttagt agagatgggg tttcaccatg
     3121 ttggcaaggc tggtctcgaa ctcctgacct caggtgatcc acccacttcg gcttcccaaa
     3181 gtgctgggat tacaggcatg agccacagca cctgacctat atatgcattt agattgagat
     3241 attgatatat caatatatag atgtagaaat atggactctt tgtaattttt aaaaatcatg
     3301 tatttcctca aggttcttaa tatatttgca taattttggg taaagtagtc tcatgattaa
     3361 tttcctttat atctgtggtt atttctccaa catagttctc atagagtgta tttgtgattt
     3421 tttccctcaa ttaggtaaat aaatgctaat attttatttc ttttactctc cctca
//
