LOCUS       NM_004821               1701 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens heart and neural crest derivatives expressed 1
            (HAND1), mRNA.
ACCESSION   NM_004821
VERSION     NM_004821.3
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  (bases 1 to 1701)
  AUTHORS   Tabrizi,F., Khatami,M., Heidari,M.M., Braganca,J., Tatari,H.,
            Namnabat,M., Hadadzadeh,M. and Navabi Shirazi,M.A.
  TITLE     Novel and deleterious nucleotide variations in the HAND1 gene
            probably affect miRNA target sites and protein function in
            pediatric patients with congenital heart disease
  JOURNAL   Mol Biol Rep 51 (1), 468 (2024)
   PUBMED   38551686
  REMARK    GeneRIF: Novel and deleterious nucleotide variations in the HAND1
            gene probably affect miRNA target sites and protein function in
            pediatric patients with congenital heart disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1701)
  AUTHORS   Fresch,R., Courtney,J., Brockway,H., Wilson,R.L. and Jones,H.
  TITLE     HAND1 knockdown disrupts trophoblast global gene expression
  JOURNAL   Physiol Rep 11 (2), e15553 (2023)
   PUBMED   36695714
  REMARK    GeneRIF: HAND1 knockdown disrupts trophoblast global gene
            expression.
REFERENCE   3  (bases 1 to 1701)
  AUTHORS   Zhu,H., Ren,Q., Yan,Z., Xu,S., Luo,J., Wu,X. and Tang,C.
  TITLE     Human HAND1 inhibits the conversion of cholesterol to steroids in
            trophoblasts
  JOURNAL   J Genet Genomics 49 (4), 350-363 (2022)
   PUBMED   34391879
  REMARK    GeneRIF: Human HAND1 inhibits the conversion of cholesterol to
            steroids in trophoblasts.
REFERENCE   4  (bases 1 to 1701)
  AUTHORS   Okubo,C., Narita,M., Inagaki,A., Nishikawa,M., Hotta,A.,
            Yamanaka,S. and Yoshida,Y.
  TITLE     Expression dynamics of HAND1/2 in in vitro human cardiomyocyte
            differentiation
  JOURNAL   Stem Cell Reports 16 (8), 1906-1922 (2021)
   PUBMED   34297940
  REMARK    GeneRIF: Expression dynamics of HAND1/2 in in vitro human
            cardiomyocyte differentiation.
REFERENCE   5  (bases 1 to 1701)
  AUTHORS   Hemming,M.L., Coy,S., Lin,J.R., Andersen,J.L., Przybyl,J.,
            Mazzola,E., Abdelhamid Ahmed,A.H., van de Rijn,M., Sorger,P.K.,
            Armstrong,S.A., Demetri,G.D. and Santagata,S.
  TITLE     HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of
            Malignancy in Gastrointestinal Stromal Tumor
  JOURNAL   Clin Cancer Res 27 (6), 1706-1719 (2021)
   PUBMED   33451979
  REMARK    GeneRIF: HAND1 and BARX1 Act as Transcriptional and Anatomic
            Determinants of Malignancy in Gastrointestinal Stromal Tumor.
REFERENCE   6  (bases 1 to 1701)
  AUTHORS   Srivastava,D.
  TITLE     HAND proteins: molecular mediators of cardiac development and
            congenital heart disease
  JOURNAL   Trends Cardiovasc Med 9 (1-2), 11-18 (1999)
   PUBMED   10189962
  REMARK    Review article
REFERENCE   7  (bases 1 to 1701)
  AUTHORS   Knofler,M., Meinhardt,G., Vasicek,R., Husslein,P. and Egarter,C.
  TITLE     Molecular cloning of the human Hand1 gene/cDNA and its
            tissue-restricted expression in cytotrophoblastic cells and heart
  JOURNAL   Gene 224 (1-2), 77-86 (1998)
   PUBMED   9931445
REFERENCE   8  (bases 1 to 1701)
  AUTHORS   Russell,M.W., Baker,P. and Izumo,S.
  TITLE     Cloning, chromosomal mapping, and expression of the human eHAND
            gene
  JOURNAL   Mamm Genome 8 (11), 863-865 (1997)
   PUBMED   9337404
REFERENCE   9  (bases 1 to 1701)
  AUTHORS   Cross,S.H., Charlton,J.A., Nan,X. and Bird,A.P.
  TITLE     Purification of CpG islands using a methylated DNA binding column
  JOURNAL   Nat Genet 6 (3), 236-244 (1994)
   PUBMED   8012384
REFERENCE   10 (bases 1 to 1701)
  AUTHORS   Weber,M.C., de Clarke,V., Harwin,R.M. and Shiff,C.J.
  TITLE     An extended field trial of pyrimethamine combined with dapsone in
            the prophylaxis of malaria
  JOURNAL   Cent Afr J Med 21 (9), 187-192 (1975)
   PUBMED   1182795
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF061756.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004821.2.
            
            Summary: The protein encoded by this gene belongs to the basic
            helix-loop-helix family of transcription factors. This gene product
            is one of two closely related family members, the HAND proteins,
            which are asymmetrically expressed in the developing ventricular
            chambers and play an essential role in cardiac morphogenesis.
            Working in a complementary fashion, they function in the formation
            of the right ventricle and aortic arch arteries, implicating them
            as mediators of congenital heart disease. In addition, it has been
            suggested that this transcription factor may be required for early
            trophoblast differentiation. [provided by RefSeq, Jul 2008].
            
            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 :: BC021190.2, AF061756.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2153932
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000231121.3/ ENSP00000231121.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1324              AF061756.1         38-1361
            1325-1701           AF061756.1         1363-1739
FEATURES             Location/Qualifiers
     source          1..1701
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q33.2"
     gene            1..1701
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /note="heart and neural crest derivatives expressed 1"
                     /db_xref="GeneID:9421"
                     /db_xref="HGNC:HGNC:4807"
                     /db_xref="MIM:602406"
     exon            1..762
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /inference="alignment:Splign:2.1.0"
     CDS             220..867
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /note="class A basic helix-loop-helix protein 27;
                     extraembryonic tissues, heart, autonomic nervous system
                     and neural crest derivatives-expressed protein 1"
                     /codon_start=1
                     /product="heart- and neural crest derivatives-expressed
                     protein 1"
                     /protein_id="NP_004812.1"
                     /db_xref="CCDS:CCDS4327.1"
                     /db_xref="GeneID:9421"
                     /db_xref="HGNC:HGNC:4807"
                     /db_xref="MIM:602406"
                     /translation="MNLVGSYAHHHHHHHPHPAHPMLHEPFLFGPASRCHQERPYFQS
                     WLLSPADAAPDFPAGGPPPAAAAAATAYGPDARPGQSPGRLEALGGRLGRRKGSGPKK
                     ERRRTESINSAFAELRECIPNVPADTKLSKIKTLRLATSYIAYLMDVLAKDAQSGDPE
                     AFKAELKKADGGRESKRKRELQQHEGFPPALGPVEKRIKGRTGWPQQVWALELNQ"
     exon            763..1701
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1680..1685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /note="hexamer: AATAAA"
     polyA_site      1701
                     /gene="HAND1"
                     /gene_synonym="bHLHa27; eHand; Hxt; Thing1"
                     /note="major polyA site"
ORIGIN      
        1 agaagggtta aacaggtctt tgggcttcgg cgacctcgcc cgcggcagaa accggtaaga
       61 agacagtggg ctgcgcgtct cattttcagc cttgcccgga ctctcccaaa gccggcgccc
      121 agtagtggct ccagagccca caggtggccc ccggcagtct ctggggcgca tggagcggcg
      181 ttaatagggc tggcggcgca ggccagtagc cgctccaaca tgaacctcgt gggcagctac
      241 gcacaccatc accaccatca ccacccgcac cctgcgcacc ccatgctcca cgaacccttc
      301 ctcttcggtc cggcctcgcg ctgtcatcag gaaaggccct acttccagag ctggctgctg
      361 agcccggctg acgctgcccc ggacttccct gcgggcgggc cgccgcccgc ggccgctgca
      421 gccgccaccg cctatggtcc tgacgccagg cctgggcaga gccccgggcg gctggaggcg
      481 cttggcggcc gtcttggccg gcggaaaggc tcaggaccca agaaggagcg gagacgcact
      541 gagagcatta acagcgcatt cgcggagttg cgcgagtgca tccccaacgt gccggccgac
      601 accaagctct ccaagatcaa gactctgcgc ctagccacca gctacatcgc ctacctgatg
      661 gacgtgctgg ccaaggatgc acagtctggc gatcccgagg ccttcaaggc tgaactcaag
      721 aaggcggatg gcggccgtga gagcaagcgg aaaagggagc tgcagcagca cgaaggtttt
      781 cctcctgccc tgggcccagt cgagaagagg attaaaggac gcaccggctg gccgcagcaa
      841 gtctgggcgc tggagttaaa ccagtgagcc gaggcccgcg ccgaggacct ggccaggcca
      901 gccactcctg aagccccggg aggagaggaa ggcagcggcg aacgccaggc tctgggctcc
      961 ggcgactggt gctacgcatc ccgcggagct tctgctgagc gccggcaggt cgtcggctgc
     1021 aaccacacac ttggatcgca cgtgcaatgt cctttgattt tttttaatac attaagagaa
     1081 agagaaatat atatatatcc acccccagcc caaccgaggg cggcccttgg cggcaacatg
     1141 caagaaggag ggactgtcga acccaagggc tcaaagacgc actcttccac ccttttggag
     1201 cgaatttaga acctcagccc tatctccatt tccctatctg gctctttctc tcttgtccct
     1261 ccatatgatc cgccccgacg ccgtcttctc taattaaaat gcaataagga atcaattctt
     1321 ttctgcctga gaaagagaac cagacgcagg aagatgaaag gctgcccttt gttcttcgaa
     1381 tcgtggtggt tttattttat ttttcttttt gtcgctgcac ttcctgttta gttccaaggg
     1441 aaacactttc tctctttctc tgtctctctc ttttcttcct tcttttcctt cctttttgtt
     1501 tctatctaaa taaaagcttt ccctgtgttg gaaagttttt atgtatttaa actacctacc
     1561 atgcctgttg tgctcaggtg tttgttcatc ctgccatccc caaccctttt ctacctcaag
     1621 tctgtgtgac cactcacagc ccccctccct tcgccaaagc agtgtctatg ctcttgatta
     1681 ataaaacatt ttctgaaatc a
//
