LOCUS       NM_020436               5209 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens spalt like transcription factor 4 (SALL4), transcript
            variant 1, mRNA.
ACCESSION   NM_020436
VERSION     NM_020436.5
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 5209)
  AUTHORS   Wang,T., Jin,Y., Wang,M., Chen,B., Sun,J., Zhang,J., Yang,H.,
            Deng,X., Cao,X., Wang,L. and Tang,Y.
  TITLE     SALL4 in gastrointestinal tract cancers: upstream and downstream
            regulatory mechanisms
  JOURNAL   Mol Med 30 (1), 46 (2024)
   PUBMED   38584262
  REMARK    GeneRIF: SALL4 in gastrointestinal tract cancers: upstream and
            downstream regulatory mechanisms.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5209)
  AUTHORS   Lospinoso Severini,L., Loricchio,E., Navacci,S., Basili,I.,
            Alfonsi,R., Bernardi,F., Moretti,M., Conenna,M., Cucinotta,A.,
            Coni,S., Petroni,M., De Smaele,E., Giannini,G., Maroder,M.,
            Canettieri,G., Mastronuzzi,A., Guardavaccaro,D., Ayrault,O.,
            Infante,P., Bufalieri,F. and Di Marcotullio,L.
  TITLE     SALL4 is a CRL3REN/KCTD11 substrate that drives Sonic
            Hedgehog-dependent medulloblastoma
  JOURNAL   Cell Death Differ 31 (2), 170-187 (2024)
   PUBMED   38062245
  REMARK    GeneRIF: SALL4 is a CRL3[REN/KCTD11] substrate that drives Sonic
            Hedgehog-dependent medulloblastoma.
REFERENCE   3  (bases 1 to 5209)
  AUTHORS   Jiang,Y. and Tang,Y.
  TITLE     SALL4 advances the proliferation and tumor cell stemness of colon
            cancer cells through the transcription and regulation of ROBO2
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 43 (3), 249-263 (2024)
   PUBMED   37660281
  REMARK    GeneRIF: SALL4 advances the proliferation and tumor cell stemness
            of colon cancer cells through the transcription and regulation of
            ROBO2.
REFERENCE   4  (bases 1 to 5209)
  AUTHORS   Kodytkova,A., Amaratunga,S.A., Zemkova,D., Maratova,K.,
            Dusatkova,P., Plachy,L., Pruhova,S., Kolouskova,S. and Lebl,J.
  TITLE     SALL4 Phenotype in Four Generations of One Family: An Interplay of
            the Upper Limb, Kidneys, and the Pituitary
  JOURNAL   Horm Res Paediatr 97 (2), 203-210 (2024)
   PUBMED   37611564
  REMARK    GeneRIF: SALL4 Phenotype in Four Generations of One Family: An
            Interplay of the Upper Limb, Kidneys, and the Pituitary.
REFERENCE   5  (bases 1 to 5209)
  AUTHORS   Kohlhase,J., Chitayat,D., Kotzot,D., Ceylaner,S., Froster,U.G.,
            Fuchs,S., Montgomery,T. and Rosler,B.
  TITLE     SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome),
            acro-renal-ocular syndrome, and related disorders
  JOURNAL   Hum Mutat 26 (3), 176-183 (2005)
   PUBMED   16086360
  REMARK    GeneRIF: analysis of SALL4 defects and associated syndromes
            (including Okihiro syndrome (Duane-radial ray syndrome),
            acro-renal-ocular syndrome) and description of the clinical
            distinctions with similar phenotypes caused by other gene defects
REFERENCE   6  (bases 1 to 5209)
  AUTHORS   Kohlhase,J., Schubert,L., Liebers,M., Rauch,A., Becker,K.,
            Mohammed,S.N., Newbury-Ecob,R. and Reardon,W.
  TITLE     Mutations at the SALL4 locus on chromosome 20 result in a range of
            clinically overlapping phenotypes, including Okihiro syndrome,
            Holt-Oram syndrome, acro-renal-ocular syndrome, and patients
            previously reported to represent thalidomide embryopathy
  JOURNAL   J Med Genet 40 (7), 473-478 (2003)
   PUBMED   12843316
REFERENCE   7  (bases 1 to 5209)
  AUTHORS   Kohlhase,J., Heinrich,M., Schubert,L., Liebers,M., Kispert,A.,
            Laccone,F., Turnpenny,P., Winter,R.M. and Reardon,W.
  TITLE     Okihiro syndrome is caused by SALL4 mutations
  JOURNAL   Hum Mol Genet 11 (23), 2979-2987 (2002)
   PUBMED   12393809
  REMARK    GeneRIF: Okihiro syndrome is caused by SALL4 mutations
REFERENCE   8  (bases 1 to 5209)
  AUTHORS   Al-Baradie,R., Yamada,K., St Hilaire,C., Chan,W.M., Andrews,C.,
            McIntosh,N., Nakano,M., Martonyi,E.J., Raymond,W.R., Okumura,S.,
            Okihiro,M.M. and Engle,E.C.
  TITLE     Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and
            results from mutations in SALL4, a new member of the SAL family
  JOURNAL   Am J Hum Genet 71 (5), 1195-1199 (2002)
   PUBMED   12395297
  REMARK    GeneRIF: The first identified Duane syndrome gene and the second
            malformation syndrome resulting from mutations in SAL genes.
REFERENCE   9  (bases 1 to 5209)
  AUTHORS   Kohlhase,J.
  TITLE     SALL4-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301547
REFERENCE   10 (bases 1 to 5209)
  AUTHORS   Barry,B.J., Whitman,M.C., Hunter,D.G. and Engle,E.C.
  TITLE     Duane Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301369
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL034420.16, DA666635.1,
            AY172738.1, AA419623.1, AI638036.1, DA747867.1, CN271900.1,
            BE549760.1 and AA854044.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020436.4.
            
            Summary: This gene encodes a zinc finger transcription factor
            thought to play a role in the development of abducens motor
            neurons. Defects in this gene are a cause of Duane-radial ray
            syndrome (DRRS). Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK001666.1, BC111714.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217086.9/ ENSP00000217086.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL034420.16        25303-25304         c
            3-113               DA666635.1         7-117
            114-3275            AY172738.1         1-3162
            3276-3470           AA419623.1         1-195               c
            3471-3498           AI638036.1         2-29                c
            3499-3580           DA747867.1         485-566
            3581-3896           CN271900.1         4-319
            3897-4332           BE549760.1         75-510
            4333-4823           AA854044.1         2-492               c
            4824-5209           AL034420.16        5114-5499           c
FEATURES             Location/Qualifiers
     source          1..5209
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.2"
     gene            1..5209
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /note="spalt like transcription factor 4"
                     /db_xref="GeneID:57167"
                     /db_xref="HGNC:HGNC:15924"
                     /db_xref="MIM:607343"
     exon            1..243
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..3275
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /note="isoform 1 is encoded by transcript variant 1;
                     sal-like protein 4; zinc finger protein SALL4; zinc finger
                     protein 797"
                     /codon_start=1
                     /product="sal-like protein 4 isoform 1"
                     /protein_id="NP_065169.1"
                     /db_xref="CCDS:CCDS13438.1"
                     /db_xref="GeneID:57167"
                     /db_xref="HGNC:HGNC:15924"
                     /db_xref="MIM:607343"
                     /translation="MSRRKQAKPQHINSEEDQGEQQPQQQTPEFADAAPAAPAAGELG
                     APVNHPGNDEVASEDEATVKRLRREETHVCEKCCAEFFSISEFLEHKKNCTKNPPVLI
                     MNDSEGPVPSEDFSGAVLSHQPTSPGSKDCHRENGGSSEDMKEKPDAESVVYLKTETA
                     LPPTPQDISYLAKGKVANTNVTLQALRGTKVAVNQRSADALPAPVPGANSIPWVLEQI
                     LCLQQQQLQQIQLTEQIRIQVNMWASHALHSSGAGADTLKTLGSHMSQQVSAAVALLS
                     QKAGSQGLSLDALKQAKLPHANIPSATSSLSPGLAPFTLKPDGTRVLPNVMSRLPSAL
                     LPQAPGSVLFQSPFSTVALDTSKKGKGKPPNISAVDVKPKDEAALYKHKCKYCSKVFG
                     TDSSLQIHLRSHTGERPFVCSVCGHRFTTKGNLKVHFHRHPQVKANPQLFAEFQDKVA
                     AGNGIPYALSVPDPIDEPSLSLDSKPVLVTTSVGLPQNLSSGTNPKDLTGGSLPGDLQ
                     PGPSPESEGGPTLPGVGPNYNSPRAGGFQGSGTPEPGSETLKLQQLVENIDKATTDPN
                     ECLICHRVLSCQSSLKMHYRTHTGERPFQCKICGRAFSTKGNLKTHLGVHRTNTSIKT
                     QHSCPICQKKFTNAVMLQQHIRMHMGGQIPNTPLPENPCDFTGSEPMTVGENGSTGAI
                     CHDDVIESIDVEEVSSQEAPSSSSKVPTPLPSIHSASPTLGFAMMASLDAPGKVGPAP
                     FNLQRQGSRENGSVESDGLTNDSSSLMGDQEYQSRSPDILETTSFQALSPANSQAESI
                     KSKSPDAGSKAESSENSRTEMEGRSSLPSTFIRAPPTYVKVEVPGTFVGPSTLSPGMT
                     PLLAAQPRRQAKQHGCTRCGKNFSSASALQIHERTHTGEKPFVCNICGRAFTTKGNLK
                     VHYMTHGANNNSARRGRKLAIENTMALLGTDGKRVSEIFPKEILAPSVNVDPVVWNQY
                     TSMLNGGLAVKTNEISVIQSGGVPTLPVSLGATSVVNNATVSKMDGSQSGISADVEKP
                     SATDGVPKHQFPHFLEENKIAVS"
     exon            244..2574
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /inference="alignment:Splign:2.1.0"
     exon            2575..2855
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /inference="alignment:Splign:2.1.0"
     exon            2856..5209
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5182..5187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /note="hexamer: AATAAA"
     polyA_site      5209
                     /gene="SALL4"
                     /gene_synonym="DRRS; HSAL4; IVIC; ZNF797"
                     /note="major polyA site"
ORIGIN      
        1 aattactggg acatgcgcgt tccggccgaa ggggggtaaa tttcccaact ccaggaattt
       61 gtggcggaga gggcaaataa ctgcggctct cccggcgccc cgatgctcgc accatgtcga
      121 ggcgcaagca ggcgaaaccc cagcacatca actcggagga ggaccagggc gagcagcagc
      181 cgcagcagca gaccccggag tttgcagatg cggccccagc ggcgcccgcg gcgggggagc
      241 tgggtgctcc agtgaaccac ccagggaatg acgaggtggc gagtgaggat gaagccacag
      301 taaagcggct tcgtcgggag gagacgcacg tctgtgagaa atgctgtgcg gagttcttca
      361 gcatctctga gttcctggaa cataagaaaa attgcactaa aaatccacct gtcctcatca
      421 tgaatgacag cgaggggcct gtgccttcag aagacttctc cggagctgta ctgagccacc
      481 agcccaccag tcccggcagt aaggactgtc acagggagaa tggcggcagc tcagaggaca
      541 tgaaggagaa gccggatgcg gagtctgtgg tgtacctaaa gacagagaca gccctgccac
      601 ccacccccca ggacataagc tatttagcca aaggcaaagt ggccaacact aatgtgacct
      661 tgcaggcact acggggcacc aaggtggcgg tgaatcagcg gagcgcggat gcactccctg
      721 cccccgtgcc tggtgccaac agcatcccgt gggtcctcga gcagatcttg tgtctgcagc
      781 agcagcagct acagcagatc cagctcaccg agcagatccg catccaggtg aacatgtggg
      841 cctcccacgc cctccactca agcggggcag gggccgacac tctgaagacc ttgggcagcc
      901 acatgtctca gcaggtttct gcagctgtgg ctttgctcag ccagaaagct ggaagccaag
      961 gtctgtctct ggatgccttg aaacaagcca agctacctca cgccaacatc ccttctgcca
     1021 ccagctccct gtccccaggg ctggcaccct tcactctgaa gccggatggg acccgggtgc
     1081 tcccgaacgt catgtcccgc ctcccgagcg ctttgcttcc tcaggccccg ggctcggtgc
     1141 tcttccagag ccctttctcc actgtggcgc tagacacatc caagaaaggg aaggggaagc
     1201 caccgaacat ctccgcggtg gatgtcaaac ccaaagacga ggcggccctc tacaagcaca
     1261 agtgtaagta ctgtagcaag gtttttggga ctgatagctc cttgcagatc cacctccgct
     1321 cccacactgg agagagaccc ttcgtgtgct ctgtctgtgg tcatcgcttc accaccaagg
     1381 gcaacctcaa ggtgcacttt caccgacatc cccaggtgaa ggcaaacccc cagctgtttg
     1441 ccgagttcca ggacaaagtg gcggccggca atggcatccc ctatgcactc tctgtacctg
     1501 accccataga tgaaccgagt ctttctttag acagcaaacc tgtccttgta accacctctg
     1561 tagggctacc tcagaatctt tcttcgggga ctaatcccaa ggacctcacg ggtggctcct
     1621 tgcccggtga cctgcagcct gggccttctc cagaaagtga gggtggaccc acactccctg
     1681 gggtgggacc aaactataat tccccaaggg ctggtggctt ccaagggagt gggacccctg
     1741 agccagggtc agagaccctg aaattgcagc agttggtgga gaacattgac aaggccacca
     1801 ctgatcccaa cgaatgtctc atttgccacc gagtcttaag ctgtcagagc tccctcaaga
     1861 tgcattatcg cacccacacc ggggagagac cgttccagtg taagatctgt ggccgagcct
     1921 tttctaccaa aggtaacctg aagacacacc ttggggttca ccgaaccaac acatccatta
     1981 agacgcagca ttcgtgcccc atctgccaga agaagttcac taatgccgtg atgctgcagc
     2041 aacatattcg gatgcacatg ggcggtcaga ttcccaacac gcccctgcca gagaatccct
     2101 gtgactttac gggttctgag ccaatgaccg tgggtgagaa cggcagcacc ggcgctatct
     2161 gccatgatga tgtcatcgaa agcatcgatg tagaggaagt cagctcccag gaggctccca
     2221 gcagctcctc caaggtcccc acgcctcttc ccagcatcca ctcggcatca cccacgctag
     2281 ggtttgccat gatggcttcc ttagatgccc cagggaaagt gggtcctgcc ccttttaacc
     2341 tgcagcgcca gggcagcaga gaaaacggtt ccgtggagag cgatggcttg accaacgact
     2401 catcctcgct gatgggagac caggagtatc agagccgaag cccagatatc ctggaaacca
     2461 catccttcca ggcactctcc ccggccaata gtcaagccga aagcatcaag tcaaagtctc
     2521 ccgatgctgg gagcaaagca gagagctccg agaacagccg cactgagatg gaaggtcgga
     2581 gcagtctccc ttccacgttt atccgagccc cgccgaccta tgtcaaggtt gaagttcctg
     2641 gcacatttgt gggaccctcg acattgtccc cagggatgac ccctttgtta gcagcccagc
     2701 cacgccgaca ggccaagcaa catggctgca cacggtgtgg gaagaacttc tcgtctgcta
     2761 gcgctcttca gatccacgag cggactcaca ctggagagaa gccttttgtg tgcaacattt
     2821 gtgggcgagc ttttaccacc aaaggcaact taaaggttca ctacatgaca cacggggcga
     2881 acaataactc agcccgccgt ggaaggaagt tggccatcga gaacaccatg gctctgttag
     2941 gtacggacgg aaaaagagtc tcagaaatct ttcccaagga aatcctggcc ccttcagtga
     3001 atgtggaccc tgttgtgtgg aaccagtaca ccagcatgct caatggcggt ctggccgtga
     3061 agaccaatga gatctctgtg atccagagtg ggggggttcc taccctcccg gtttccttgg
     3121 gggccacctc cgttgtgaat aacgccactg tctccaagat ggatggctcc cagtcgggta
     3181 tcagtgcaga tgtggaaaaa ccaagtgcta ctgacggcgt tcccaaacac cagtttcctc
     3241 acttcctgga agaaaacaag attgcggtca gctaagggag aacttgcgtg gaaggagcaa
     3301 tgcagacaca gtgaaatctc tagaatctgc tttgttttgt aagaactcat ctcctcctgt
     3361 tttctttttc ttactgatat gcaaatgatg tttactacgt tggttgtgac cacaacctca
     3421 ggcaagtgct acaatcacga ttgttgctat gctgctttgc aaaaagttga aaaaataaaa
     3481 aaaaaatgca taccaaaaca aatacagact cttttttttt gagatggagt ctcgctctat
     3541 cacccaggct ggagtgcagt ggcatgatct cggctcactg caacctcccc attctgggtt
     3601 caagtgattc tcctgcctta gcctccagag tagctgggat tacaggcagg tgccaccacg
     3661 cccggctaat tttgtatttt gagtagagac tgggtttcac catgttggtc aggctggtct
     3721 cgaactgctg acctcgtgat ccacccgcct tggcctccca aagtgctggg attacaggca
     3781 tgagctacca cgcctggcac tttttttttt tttttctaat tttggaaaga agcgggtctt
     3841 gcaaagtagc tttgttactt gtaacagacg tatacataga acctttgtac aacctagagt
     3901 gactttttcc aaagactgtt acctatttca aggtagaatc gttggaactt actgaacaac
     3961 agtggaaaag acaactacac agcctcattg aggggagatg ggtactgtat acttactggt
     4021 aactggacac gggtaaaagg acaaggtctg tcatctcttt agggacctgt tttatatgcc
     4081 ccaaccctgt ccccatctta ttgttttttt ttgaatgtac ttaaaaaagg aacaacaaaa
     4141 aactagggtt gtagaattat aaaactgctt caaccttaga accttaagta ggaggccctc
     4201 aaatggactt acgttagtcc ttagggagtc aatgtgtgtg ttgctgctta tttaaataca
     4261 gttcagttgg agccccgaga gtgccaatgt tttccccaca cctcttggat gccttcctct
     4321 tcccaaatcc cagaagaggt gggcacctga gcggggaatc tcaggtgact tagtttgcca
     4381 gtgcctactc tattgaagaa ctgggttttc atgctcgaga agaaactcgt ggaagggcgt
     4441 gtttcccatc acaggttcac atactgattg cttttgttga atttccttgg tgcgacttat
     4501 gccaagtaat tatgacgatt ttttgttttg ttttgtttcc ttgctgaata tttcatgaag
     4561 gctacgaagt tagaacaggc acgtcctggg tgtgaaagct ttaatttatc tacctcattt
     4621 attttttatt ttttgtagcc atagtgtcta ttttcctatt ttaagaccgc tgaagtattc
     4681 ccaggccctg tctaaagcct aagagttgat gtattggtgg gaagaggtga acgttcaaga
     4741 tgattttgtg atgccttttt tttttgtagt ttcctttgta aatgtgatat tgagcaaacg
     4801 aaacattgct cttggtttaa caagaaagaa agaaaaaaac tctaatttct gggagaaaag
     4861 tctttcccct ctatgtggaa ggtcctgacg gaaatatgca tccaagacga ttagccaaag
     4921 tgttgtctct tcatcgttgc acctgacttt aggattccgc cccccttttt tttttttttt
     4981 tttttttttg ccaagttgtg cctttccttc tggaattgta agtgaacacg ataatagtac
     5041 ctgtttacac tgtgaagtgg atattgttac agaaaacaca ccagtggctt tctcactgtt
     5101 gagctaataa tgccttgtga atgtatgatc tacggagaaa cccctgtagt tgtacctgct
     5161 gatgctgtct gtctgttgga aaataaaatt tgaatgtttt tttttctca
//
