LOCUS       NM_004970               2058 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens insulin like growth factor binding protein acid labile
            subunit (IGFALS), transcript variant 2, mRNA.
ACCESSION   NM_004970
VERSION     NM_004970.3
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 2058)
  AUTHORS   Zhang,Y.Y., Cao,J., Chen,X.T., Chen,J.H. and Zheng,Y.B.
  TITLE     [Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and CYP2E1 May
            be Associated with Poor Prognosis of Liver Cancer]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 43 (3), 371-381 (2021)
   PUBMED   34238413
  REMARK    GeneRIF: [Liver Tissue-specific Genes IGFALS,CYP3A4,SLC22A1 and
            CYP2E1 May be Associated with Poor Prognosis of Liver Cancer].
REFERENCE   2  (bases 1 to 2058)
  AUTHORS   Xu,G., Deng,F., Zuo,Q., Liu,L., Dou,K., Cheng,Z., Cao,W., Luo,C.,
            Yu,C., Liu,S. and Zhu,Y.
  TITLE     Virus-inducible IGFALS facilitates innate immune responses by
            mediating IRAK1 and TRAF6 activation
  JOURNAL   Cell Mol Immunol 18 (6), 1587-1589 (2021)
   PUBMED   33664485
  REMARK    GeneRIF: Virus-inducible IGFALS facilitates innate immune responses
            by mediating IRAK1 and TRAF6 activation.
REFERENCE   3  (bases 1 to 2058)
  AUTHORS   Kumar,A., Jain,V., Chowdhury,M.R., Kumar,M., Kaur,P. and Kabra,M.
  TITLE     Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS
            genes among Indian children with idiopathic short stature
  JOURNAL   J Pediatr Endocrinol Metab 33 (1), 79-88 (2020)
   PUBMED   31834863
  REMARK    GeneRIF: Pathogenic/likely pathogenic variants in the SHOX, GHR and
            IGFALS genes among Indian children with idiopathic short stature.
REFERENCE   4  (bases 1 to 2058)
  AUTHORS   Rotwein,P.
  TITLE     Large-scale analysis of variation in the insulin-like growth factor
            family in humans reveals rare disease links and common
            polymorphisms
  JOURNAL   J Biol Chem 292 (22), 9252-9261 (2017)
   PUBMED   28389567
  REMARK    GeneRIF: Previously characterized disease-causing mutations in
            IGF2, IGF1R, IGF2R, or IGFALS all were found in the general
            population but with allele frequencies of <1:30,000.
            Erratum:[J Biol Chem. 2017 Dec 1;292(48):19608. doi:
            10.1074/jbc.AAC117.000854.. PMID: 29196571]
REFERENCE   5  (bases 1 to 2058)
  AUTHORS   Isik,E., Haliloglu,B., van Doorn,J., Demirbilek,H.,
            Scheltinga,S.A., Losekoot,M. and Wit,J.M.
  TITLE     Clinical and biochemical characteristics and bone mineral density
            of homozygous, compound heterozygous and heterozygous carriers of
            three novel IGFALS mutations
  JOURNAL   Eur J Endocrinol 176 (6), 657-667 (2017)
   PUBMED   28249955
  REMARK    GeneRIF: To the known phenotype of ACLSD (i.e. short stature,
            reduced serum levels of IGF-I and ALS, extremely low serum IGFBP-3
            and disturbed ternary complex formation), the study adds reduced
            birth weight, head circumference and serum IGF-II.
REFERENCE   6  (bases 1 to 2058)
  AUTHORS   Twigg,S.M. and Baxter,R.C.
  TITLE     Insulin-like growth factor (IGF)-binding protein 5 forms an
            alternative ternary complex with IGFs and the acid-labile subunit
  JOURNAL   J Biol Chem 273 (11), 6074-6079 (1998)
   PUBMED   9497324
REFERENCE   7  (bases 1 to 2058)
  AUTHORS   Firth,S.M., Ganeshprasad,U. and Baxter,R.C.
  TITLE     Structural determinants of ligand and cell surface binding of
            insulin-like growth factor-binding protein-3
  JOURNAL   J Biol Chem 273 (5), 2631-2638 (1998)
   PUBMED   9446566
REFERENCE   8  (bases 1 to 2058)
  AUTHORS   Dai,J. and Baxter,R.C.
  TITLE     Molecular cloning of the acid-labile subunit of the rat
            insulin-like growth factor binding protein complex
  JOURNAL   Biochem Biophys Res Commun 188 (1), 304-309 (1992)
   PUBMED   1384485
REFERENCE   9  (bases 1 to 2058)
  AUTHORS   Leong,S.R., Baxter,R.C., Camerato,T., Dai,J. and Wood,W.I.
  TITLE     Structure and functional expression of the acid-labile subunit of
            the insulin-like growth factor-binding protein complex
  JOURNAL   Mol Endocrinol 6 (6), 870-876 (1992)
   PUBMED   1379671
REFERENCE   10 (bases 1 to 2058)
  AUTHORS   Baxter,R.C., Martin,J.L. and Beniac,V.A.
  TITLE     High molecular weight insulin-like growth factor binding protein
            complex. Purification and properties of the acid-labile subunit
            from human serum
  JOURNAL   J Biol Chem 264 (20), 11843-11848 (1989)
   PUBMED   2473065
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025681.1 and AC012180.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_004970.2.
            
            Summary: The protein encoded by this gene is a serum protein that
            binds insulin-like growth factors, increasing their half-life and
            their vascular localization. Production of the encoded protein,
            which contains twenty leucine-rich repeats, is stimulated by growth
            hormone. Defects in this gene are a cause of acid-labile subunit
            deficiency, which maifests itself in a delayed and slow puberty.
            Three transcript variants encoding two different isoforms have been
            found for this gene. [provided by RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice junction at the 5' end of an exon compared to variant 1. The
            resulting isoform (2) has the same N- and C-termini but is shorter
            compared to 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 :: BC025681.1, M86826.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000215539.4/ ENSP00000215539.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1142              BC025681.1         29-1170
            1143-1143           AC012180.6         28339-28339         c
            1144-2058           BC025681.1         1172-2086
FEATURES             Location/Qualifiers
     source          1..2058
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2058
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /note="insulin like growth factor binding protein acid
                     labile subunit"
                     /db_xref="GeneID:3483"
                     /db_xref="HGNC:HGNC:5468"
                     /db_xref="MIM:601489"
     exon            1..69
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..1871
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; insulin-like growth factor-binding protein
                     complex acid labile subunit; insulin-like growth factor
                     binding protein complex acid labile chain"
                     /codon_start=1
                     /product="insulin-like growth factor-binding protein
                     complex acid labile subunit isoform 2 precursor"
                     /protein_id="NP_004961.1"
                     /db_xref="CCDS:CCDS10446.1"
                     /db_xref="GeneID:3483"
                     /db_xref="HGNC:HGNC:5468"
                     /db_xref="MIM:601489"
                     /translation="MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAA
                     CVCSYDDDADELSVFCSSRNLTRLPDGVPGGTQALWLDGNNLSSVPPAAFQNLSSLGF
                     LNLQGGQLGSLEPQALLGLENLCHLHLERNQLRSLALGTFAHTPALASLGLSNNRLSR
                     LEDGLFEGLGSLWDLNLGWNSLAVLPDAAFRGLGSLRELVLAGNRLAYLQPALFSGLA
                     ELRELDLSRNALRAIKANVFVQLPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHN
                     RVAGLLEDTFPGLLGLRVLRLSHNAIASLRPRTFKDLHFLEELQLGHNRIRQLAERSF
                     EGLGQLEVLTLDHNQLQEVKAGAFLGLTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLH
                     LEGSCLGRIRPHTFTGLSGLRRLFLKDNGLVGIEEQSLWGLAELLELDLTSNQLTHLP
                     HRLFQGLGKLEYLLLSRNRLAELPADALGPLQRAFWLDVSHNRLEALPNSLLAPLGRL
                     RYLSLRNNSLRTFTPQPPGLERLWLEGNPWDCGCPLKALRDFALQNPSAVPRFVQAIC
                     EGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEAHFAPC"
     exon            70..2058
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2032..2037
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /note="hexamer: ATTAAA"
     polyA_site      2058
                     /gene="IGFALS"
                     /gene_synonym="ACLSD; ALS"
                     /note="major polyA site"
ORIGIN      
        1 acagcagacg taccctccct cgctgcctgc ctgcagcctg ccctgcatgc aggatggccc
       61 tgaggaaagg aggcctggcc ctggcgctgc tgctgctgtc ctgggtggca ctgggccccc
      121 gcagcctgga gggagcagac cccggaacgc cgggggaagc cgagggccca gcgtgcccgg
      181 ccgcctgtgt ctgcagctac gatgacgacg cggatgagct cagcgtcttc tgcagctcca
      241 ggaacctcac gcgcctgcct gatggagtcc cgggcggcac ccaagccctg tggctggacg
      301 gcaacaacct ctcgtccgtc cccccggcag ccttccagaa cctctccagc ctgggcttcc
      361 tcaacctgca gggcggccag ctgggcagcc tggagccaca ggcgctgctg ggcctagaga
      421 acctgtgcca cctgcacctg gagcggaacc agctgcgcag cctggcactc ggcacgtttg
      481 cacacacgcc cgcgctggcc tcgctcggcc tcagcaacaa ccgtctgagc aggctggagg
      541 acgggctctt cgagggcctc ggcagcctct gggacctcaa cctcggctgg aatagcctgg
      601 cggtgctccc cgatgcggcg ttccgcggcc tgggcagcct gcgcgagctg gtgctggcgg
      661 gcaacaggct ggcctacctg cagcccgcgc tcttcagcgg cctggccgag ctccgggagc
      721 tggacctgag caggaacgcg ctgcgggcca tcaaggcaaa cgtgttcgtg cagctgcccc
      781 ggctccagaa actctacctg gaccgcaacc tcatcgctgc cgtggccccg ggcgccttcc
      841 tgggcctgaa ggcgctgcga tggctggacc tgtcccacaa ccgcgtggct ggcctcctgg
      901 aggacacgtt ccccggtctg ctgggcctgc gtgtgctgcg gctgtcccac aacgccatcg
      961 ccagcctgcg gccccgcacc ttcaaggacc tgcacttcct ggaggagctg cagctgggcc
     1021 acaaccgcat ccggcagctg gctgagcgca gctttgaggg cctggggcag cttgaggtgc
     1081 tcacgctaga ccacaaccag ctccaggagg tcaaggcggg cgctttcctc ggcctcacca
     1141 acgtggcggt catgaacctc tctgggaact gtctccggaa ccttccggag caggtgttcc
     1201 ggggcctggg caagctgcac agcctgcacc tggagggcag ctgcctggga cgcatccgcc
     1261 cgcacacctt caccggcctc tcggggctcc gccgactctt cctcaaggac aacggcctcg
     1321 tgggcattga ggagcagagc ctgtgggggc tggcggagct gctggagctc gacctgacct
     1381 ccaaccagct cacgcacctg ccccaccgcc tcttccaggg cctgggcaag ctggagtacc
     1441 tgctgctctc ccgcaaccgc ctggcagagc tgccggcgga cgccctgggc cccctgcagc
     1501 gggccttctg gctggacgtc tcgcacaacc gcctggaggc attgcccaac agcctcttgg
     1561 caccactggg gcggctgcgc tacctcagcc tcaggaacaa ctcactgcgg accttcacgc
     1621 cgcagccccc gggcctggag cgcctgtggc tggagggtaa cccctgggac tgtggctgcc
     1681 ctctcaaggc gctgcgggac ttcgccctgc agaaccccag tgctgtgccc cgcttcgtcc
     1741 aggccatctg tgagggggac gattgccagc cgcccgcgta cacctacaac aacatcacct
     1801 gtgccagccc gcccgaggtc gtggggctcg acctgcggga cctcagcgag gcccactttg
     1861 ctccctgctg accaggtccc cggactcaag ccccggactc aggcccccac ctggctcacc
     1921 ttgtgctggg gacaggtcct cagtgtcctc aggggcctgc ccagtgcact tgctggaaga
     1981 cgcaagggcc tgatggggtg gaaggcatgg cggccccccc agctgtcatc aattaaaggc
     2041 aaaggcaatc gaatctaa
//
