LOCUS       NM_002181               2473 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens Indian hedgehog signaling molecule (IHH), mRNA.
ACCESSION   NM_002181 XM_050846
VERSION     NM_002181.4
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 2473)
  AUTHORS   Harimi,S., Khansarinejad,B., Fesahat,F. and Mondanizadeh,M.
  TITLE     Hsa-miR-15b-5p/miR-195-5p Controls Osteogenic Differentiation of
            Human Adipose-Derived Mesenchymal Stem Cells Through Regulating
            Indian Hedgehog Expression
  JOURNAL   Appl Biochem Biotechnol 196 (8), 4793-4806 (2024)
   PUBMED   37964167
  REMARK    GeneRIF: Hsa-miR-15b-5p/miR-195-5p Controls Osteogenic
            Differentiation of Human Adipose-Derived Mesenchymal Stem Cells
            Through Regulating Indian Hedgehog Expression.
REFERENCE   2  (bases 1 to 2473)
  AUTHORS   O'Sullivan,E.D., Mylonas,K.J., Xin,C., Baird,D.P., Carvalho,C.,
            Docherty,M.H., Campbell,R., Matchett,K.P., Waddell,S.H.,
            Walker,A.D., Gallagher,K.M., Jia,S., Leung,S., Laird,A.,
            Wilflingseder,J., Willi,M., Reck,M., Finnie,S., Pisco,A.,
            Gordon-Keylock,S., Medvinsky,A., Boulter,L., Henderson,N.C.,
            Kirschner,K., Chandra,T., Conway,B.R., Hughes,J., Denby,L.,
            Bonventre,J.V. and Ferenbach,D.A.
  TITLE     Indian Hedgehog release from TNF-activated renal epithelia drives
            local and remote organ fibrosis
  JOURNAL   Sci Transl Med 15 (698), eabn0736 (2023)
   PUBMED   37256934
  REMARK    GeneRIF: Indian Hedgehog release from TNF-activated renal epithelia
            drives local and remote organ fibrosis.
REFERENCE   3  (bases 1 to 2473)
  AUTHORS   Ozyavuz Cubuk,P. and Duz,M.B.
  TITLE     Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult
            patients from the third family in the literature and progression of
            the disease
  JOURNAL   Eur J Med Genet 64 (11), 104343 (2021)
   PUBMED   34530144
  REMARK    GeneRIF: Acrocapitofemoral dysplasia: Novel mutation in IHH in two
            adult patients from the third family in the literature and
            progression of the disease.
REFERENCE   4  (bases 1 to 2473)
  AUTHORS   Wang,X., Liu,H., Liu,Y., Han,G., Wang,Y., Chen,H., He,L. and Ma,G.
  TITLE     Highly Conserved C-Terminal Region of Indian Hedgehog N-Fragment
            Contributes to Its Auto-Processing and Multimer Formation
  JOURNAL   Biomolecules 11 (6), 792 (2021)
   PUBMED   34070546
  REMARK    GeneRIF: Highly Conserved C-Terminal Region of Indian Hedgehog
            N-Fragment Contributes to Its Auto-Processing and Multimer
            Formation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2473)
  AUTHORS   Chuang,P.T. and McMahon,A.P.
  TITLE     Vertebrate Hedgehog signalling modulated by induction of a
            Hedgehog-binding protein
  JOURNAL   Nature 397 (6720), 617-621 (1999)
   PUBMED   10050855
REFERENCE   6  (bases 1 to 2473)
  AUTHORS   Carpenter,D., Stone,D.M., Brush,J., Ryan,A., Armanini,M.,
            Frantz,G., Rosenthal,A. and de Sauvage,F.J.
  TITLE     Characterization of two patched receptors for the vertebrate
            hedgehog protein family
  JOURNAL   Proc Natl Acad Sci U S A 95 (23), 13630-13634 (1998)
   PUBMED   9811851
REFERENCE   7  (bases 1 to 2473)
  AUTHORS   Leek,J.P., Moynihan,T.P., Anwar,R., Bonthron,D.T., Markham,A.F. and
            Lench,N.J.
  TITLE     Assignment of Indian hedgehog (IHH) to human chromosome bands
            2q33-->q35 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 76 (3-4), 187-188 (1997)
   PUBMED   9186520
REFERENCE   8  (bases 1 to 2473)
  AUTHORS   Porter,J.A., Young,K.E. and Beachy,P.A.
  TITLE     Cholesterol modification of hedgehog signaling proteins in animal
            development
  JOURNAL   Science 274 (5285), 255-259 (1996)
   PUBMED   8824192
  REMARK    Erratum:[Science 1996 Dec 6;274(5293):1597]
REFERENCE   9  (bases 1 to 2473)
  AUTHORS   Marigo,V., Roberts,D.J., Lee,S.M., Tsukurov,O., Levi,T.,
            Gastier,J.M., Epstein,D.J., Gilbert,D.J., Copeland,N.G.,
            Seidman,C.E. et al.
  TITLE     Cloning, expression, and chromosomal location of SHH and IHH: two
            human homologues of the Drosophila segment polarity gene hedgehog
  JOURNAL   Genomics 28 (1), 44-51 (1995)
   PUBMED   7590746
REFERENCE   10 (bases 1 to 2473)
  AUTHORS   Chang,D.T., Lopez,A., von Kessler,D.P., Chiang,C., Simandl,B.K.,
            Zhao,R., Seldin,M.F., Fallon,J.F. and Beachy,P.A.
  TITLE     Products, genetic linkage and limb patterning activity of a murine
            hedgehog gene
  JOURNAL   Development 120 (11), 3339-3353 (1994)
   PUBMED   7720571
  REMARK    GeneRIF: describes cloning of human IHH
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC097468.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_002181.3.
            
            Summary: This gene encodes a member of the hedgehog family of
            proteins. The encoded preproprotein is proteolytically processed to
            generate multiple protein products, including an N-terminal
            fragment that is involved in signaling. Hedgehog family proteins
            are essential secreted signaling molecules that regulate a variety
            of developmental processes including growth, patterning and
            morphogenesis. The protein encoded by this gene specifically plays
            a role in bone growth and differentiation. Mutations in this gene
            are the cause of brachydactyly type A1, which is characterized by
            shortening or malformation of the fingers and toes. Mutations in
            this gene are also the cause of acrocapitofemoral dysplasia.
            [provided by RefSeq, Nov 2015].
            
            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 :: BC034757.1, BC136587.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267771 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000295731.7/ ENSP00000295731.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-769               AC097468.3         139791-140559       c
            770-1031            AC097468.3         137071-137332       c
            1032-2473           AC097468.3         134062-135503       c
FEATURES             Location/Qualifiers
     source          1..2473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2473
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /note="Indian hedgehog signaling molecule"
                     /db_xref="GeneID:3549"
                     /db_xref="HGNC:HGNC:5956"
                     /db_xref="MIM:600726"
     exon            1..769
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /inference="alignment:Splign:2.1.0"
     CDS             455..1690
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /note="indian hedgehog protein; Indian hedgehog homolog"
                     /codon_start=1
                     /product="indian hedgehog protein preproprotein"
                     /protein_id="NP_002172.2"
                     /db_xref="CCDS:CCDS33380.1"
                     /db_xref="GeneID:3549"
                     /db_xref="HGNC:HGNC:5956"
                     /db_xref="MIM:600726"
                     /translation="MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKL
                     VPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKELTPNYNPDIIFKDEENTGADRL
                     MTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDR
                     NKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARV
                     ALSAVRPGDRVLAMGEDGSPTFSDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHL
                     LFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTK
                     HGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLG
                     RLLLEEGSFHPLGMSGAGS"
     exon            770..1031
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..2473
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2449..2454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /note="hexamer: AATAAA"
     polyA_site      2473
                     /gene="IHH"
                     /gene_synonym="BDA1; HHG2"
                     /note="major polyA site"
ORIGIN      
        1 actcggcccc gggctgcgcc gcagacggca gcagctcccg ctccgcccga gccgcctgac
       61 cgccgggccg gggtgctaac cgcggggccc tgcagcccgc cggcccggcc agcccagccc
      121 agcccggcgg cccgcagccc cgccgcccgc cgccccccgc cgccgccgcg ttgccaaaac
      181 aaacgggccg gcctatttat tggcggccgg cgagcccggc agctcagagt cgaggcgccg
      241 agggggacag cgcgccgcca ccagctcggg ccctgggccc ccgccccgca cttgagtccc
      301 gccggccctg gccgcaccac gccgcccatg gcgcccccgc ctggagcccc ccggagccac
      361 ccggacgcct gagcccccgc agcgctcccg tcgacgcgcc tgcccatcag cccaccagga
      421 gacctcgccc gccgctcccc cgggctcccc ggccatgtct cccgcccggc tccggccccg
      481 actgcacttc tgcctggtcc tgttgctgct gctggtggtg ccggcggcat ggggctgcgg
      541 gccgggtcgg gtggtgggca gccgccggcg accgccacgc aaactcgtgc cgctcgccta
      601 caagcagttc agccccaatg tgcccgagaa gaccctgggc gccagcggac gctatgaagg
      661 caagatcgct cgcagctccg agcgcttcaa ggagctcacc cccaattaca atccagacat
      721 catcttcaag gacgaggaga acacaggcgc cgaccgcctc atgacccagc gctgcaagga
      781 ccgcctgaac tcgctggcta tctcggtgat gaaccagtgg cccggtgtga agctgcgggt
      841 gaccgagggc tgggacgagg acggccacca ctcagaggag tccctgcatt atgagggccg
      901 cgcggtggac atcaccacat cagaccgcga ccgcaataag tatggactgc tggcgcgctt
      961 ggcagtggag gccggctttg actgggtgta ttacgagtca aaggcccacg tgcattgctc
     1021 cgtcaagtcc gagcactcgg ccgcagccaa gacgggcggc tgcttccctg ccggagccca
     1081 ggtacgcctg gagagtgggg cgcgtgtggc cttgtcagcc gtgaggccgg gagaccgtgt
     1141 gctggccatg ggggaggatg ggagccccac cttcagcgat gtgctcattt tcctggaccg
     1201 cgagcctcac aggctgagag ccttccaggt catcgagact caggaccccc cacgccgcct
     1261 ggcactcaca cccgctcacc tgctctttac ggctgacaat cacacggagc cggcagcccg
     1321 cttccgggcc acatttgcca gccacgtgca gcctggccag tacgtgctgg tggctggggt
     1381 gccaggcctg cagcctgccc gcgtggcagc tgtctctaca cacgtggccc tcggggccta
     1441 cgccccgctc acaaagcatg ggacactggt ggtggaggat gtggtggcat cctgcttcgc
     1501 ggccgtggct gaccaccacc tggctcagtt ggccttctgg cccctgagac tctttcacag
     1561 cttggcatgg ggcagctgga ctccggggga gggtgtgcat tggtaccccc agctgctcta
     1621 ccgcctgggg cgtctcctgc tagaagaggg cagcttccac ccactgggca tgtccggggc
     1681 agggagctga aaggactcca ccgctgccct cctggaactg ctgtactggg tccagaagcc
     1741 tctcagccag gagggagctg gccctggaag ggacctgagc tgggggacac tggctcctgc
     1801 catctcctct gccatgaaga tacaccattg agacttgact gggcaacacc agcgtccccc
     1861 acccccgtcg tggtgtagtc atagagctgc aagctgagct ggcgagggga tggttgttga
     1921 cccctctctc ctagagacct tgaggctggc acggcgactc ccaactcagc ctgctctcac
     1981 tacgagtttt catactctgc ctcccccatt ggggagggcc cattccatcc atcttaggcc
     2041 cctttgggtg ggcttgcgcc tcagttgatg ctgctaaatt ccctgggagc cagcatggat
     2101 ctggctggac ccgatgctgt ccagaactgg gaaggccaca ggggtggggc agccatcccg
     2161 gccattctga ggtatgacat tcctccccgg ccacactcct caagacacat ccagagactg
     2221 ttgctgtctg tgggcagagt tctgtgttct ggccaatgtg accgtagtgc cggggactgg
     2281 gggaggtggg ttggatgtgc ttgccacccc cccggctaag ctcccccttc tgctgaacca
     2341 tgatccccac cccctccgcc ggtcagtctc ccatacctta tttattggag tggaggggga
     2401 agcccatggg agaattttgg ggatgttttg gtcttttctt ccttttgtaa taaaaattat
     2461 ttaagttgtt aga
//
