LOCUS       NM_001168243             425 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens NELL2 interacting cell ontogeny regulator 1 (NICOL1),
            transcript variant 1, mRNA.
ACCESSION   NM_001168243
VERSION     NM_001168243.4
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 425)
  AUTHORS   Yang,J., Zhuang,H., Li,J., Nunez-Nescolarde,A.B., Luo,N., Chen,H.,
            Li,A., Qu,X., Wang,Q., Fan,J., Bai,X., Ye,Z., Gu,B., Meng,Y.,
            Zhang,X., Wu,D., Sia,Y., Jiang,X., Chen,W., Combes,A.N.,
            Nikolic-Paterson,D.J. and Yu,X.
  TITLE     The secreted micropeptide C4orf48 enhances renal fibrosis via an
            RNA-binding mechanism
  JOURNAL   J Clin Invest 134 (10), e178392 (2024)
   PUBMED   38625739
  REMARK    GeneRIF: The secreted micropeptide C4orf48 enhances renal fibrosis
            via an RNA-binding mechanism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 425)
  AUTHORS   Kiyozumi,D., Shimada,K., Chalick,M., Emori,C., Kodani,M., Oura,S.,
            Noda,T., Endo,T., Matzuk,M.M., Wreschner,D.H. and Ikawa,M.
  TITLE     A small secreted protein NICOL regulates lumicrine-mediated sperm
            maturation and male fertility
  JOURNAL   Nat Commun 14 (1), 2354 (2023)
   PUBMED   37095084
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 425)
  AUTHORS   Endele,S., Nelkenbrecher,C., Bordlein,A., Schlickum,S. and
            Winterpacht,A.
  TITLE     C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region,
            encodes a putative neuropeptide and is expressed during neocortex
            and cerebellar development
  JOURNAL   Neurogenetics 12 (2), 155-163 (2011)
   PUBMED   21287218
  REMARK    GeneRIF: C4Orf48 probably encodes a novel neuropeptide, which, if
            hemizygously deleted, may be involved in the observed intellectual
            and fine motor disabilities and thus in the overall neurological
            aspects of Wolf-Hirschhorn syndrome.
REFERENCE   4  (bases 1 to 425)
  AUTHORS   Castelo,R., Reymond,A., Wyss,C., Camara,F., Parra,G.,
            Antonarakis,S.E., Guigo,R. and Eyras,E.
  TITLE     Comparative gene finding in chicken indicates that we are closing
            in on the set of multi-exonic widely expressed human genes
  JOURNAL   Nucleic Acids Res 33 (6), 1935-1939 (2005)
   PUBMED   15809229
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL132868.24.
            
            On Jan 19, 2021 this sequence version replaced NM_001168243.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AI929674.1, HY040901.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000409248.10/
                                                ENSP00000386807.5
            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
            1-74                AL132868.24        29875-29948         c
            75-232              AL132868.24        29459-29616         c
            233-321             AL132868.24        29119-29207         c
            322-425             AL132868.24        27979-28082         c
FEATURES             Location/Qualifiers
     source          1..425
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..425
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /note="NELL2 interacting cell ontogeny regulator 1"
                     /db_xref="GeneID:401115"
                     /db_xref="HGNC:HGNC:34437"
                     /db_xref="MIM:614690"
     exon            1..74
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /inference="alignment:Splign:2.1.0"
     exon            75..232
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..387
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /EC_number="2.3.1.17"
                     /note="neuropeptide-like protein C4orf48;
                     NELL2-interacting cofactor for lumicrine signalling;
                     NELL2-interacting cofactor for lumicrine signaling"
                     /codon_start=1
                     /product="NELL2-interacting cell ontogeny regulator 1
                     precursor"
                     /protein_id="NP_001161715.3"
                     /db_xref="CCDS:CCDS47000.2"
                     /db_xref="GeneID:401115"
                     /db_xref="HGNC:HGNC:34437"
                     /db_xref="MIM:614690"
                     /translation="MAPPPACRSPMSPPPPPLLLLLLSLALLGARARAEPAGSAVPAQ
                     SRPCVDCHAFEFMQRALQDLRKTACSLDARTETLLLQAERRALCACWPAGH"
     exon            233..321
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /inference="alignment:Splign:2.1.0"
     exon            322..425
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      408..413
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /note="hexamer: AATAAA"
     polyA_site      425
                     /gene="NICOL1"
                     /gene_synonym="C4orf48; CHR4_55; NICOL"
                     /note="major polyA site"
ORIGIN      
        1 atgcgcgttg cgcgccggac gcggaacgtc tgccggtgtc cccgcgctgc tggtcccggg
       61 gtccctgaac cgcgggcggc cccgctccct ctgctggcca tggccccccc gcccgcgtgc
      121 cggtccccga tgtcaccgcc gccgccgccg ctgctgctgc tgctgctgag tctggcgctg
      181 ctgggcgccc gggcccgcgc cgagcccgcc gggagtgccg tccccgcgca gagccgccca
      241 tgcgtggact gccacgcctt cgagttcatg cagcgcgccc tgcaggacct gcggaagaca
      301 gcctgcagcc tggacgcgcg gacggagacc ctactgctgc aggcagagcg ccgtgccctg
      361 tgtgcctgct ggccagcggg gcactgagga ccacgctgct ccgtgtgaat aaatgcccag
      421 tggca
//
