LOCUS       NM_001029871            2757 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.
ACCESSION   NM_001029871 XM_297816
VERSION     NM_001029871.4
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 2757)
  AUTHORS   Chopra,A., Song,J., Weiner,J. 3rd, Keceli,H.G., Dincer,P.R.,
            Cruz,R., Carracedo,A., Blanco,J., Dommisch,H. and Schaefer,A.S.
  TITLE     RSPO4 is a potential risk gene of stages III-IV, grade C
            periodontitis through effects on innate immune response and oral
            barrier integrity
  JOURNAL   J Clin Periodontol 50 (4), 476-486 (2023)
   PUBMED   36507580
  REMARK    GeneRIF: RSPO4 is a potential risk gene of stages III-IV, grade C
            periodontitis through effects on innate immune response and oral
            barrier integrity.
REFERENCE   2  (bases 1 to 2757)
  AUTHORS   Kim,H.J., Shim,J.H., Park,J.H., Shin,H.T., Shim,J.S., Jang,K.T.,
            Park,W.Y., Lee,K.H., Kwon,E.J., Jang,H.S., Yang,H., Lee,J.H.,
            Yang,J.M. and Lee,D.
  TITLE     Single-cell RNA sequencing of human nail unit defines RSPO4
            onychofibroblasts and SPINK6 nail epithelium
  JOURNAL   Commun Biol 4 (1), 692 (2021)
   PUBMED   34099859
  REMARK    GeneRIF: Single-cell RNA sequencing of human nail unit defines
            RSPO4 onychofibroblasts and SPINK6 nail epithelium.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2757)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2757)
  AUTHORS   Szenker-Ravi,E., Altunoglu,U., Leushacke,M., Bosso-Lefevre,C.,
            Khatoo,M., Thi Tran,H., Naert,T., Noelanders,R., Hajamohideen,A.,
            Beneteau,C., de Sousa,S.B., Karaman,B., Latypova,X., Basaran,S.,
            Yucel,E.B., Tan,T.T., Vlaminck,L., Nayak,S.S., Shukla,A.,
            Girisha,K.M., Le Caignec,C., Soshnikova,N., Uyguner,Z.O.,
            Vleminckx,K., Barker,N., Kayserili,H. and Reversade,B.
  TITLE     RSPO2 inhibition of RNF43 and ZNRF3 governs limb development
            independently of LGR4/5/6
  JOURNAL   Nature 557 (7706), 564-569 (2018)
   PUBMED   29769720
  REMARK    Erratum:[Nature. 2018 Sep;561(7722):E7. doi:
            10.1038/s41586-018-0296-7.. PMID: 29977062]
REFERENCE   5  (bases 1 to 2757)
  AUTHORS   Arenas,E.
  TITLE     Wnt signaling in midbrain dopaminergic neuron development and
            regenerative medicine for Parkinson's disease
  JOURNAL   J Mol Cell Biol 6 (1), 42-53 (2014)
   PUBMED   24431302
  REMARK    Review article
REFERENCE   6  (bases 1 to 2757)
  AUTHORS   Ishii,Y., Wajid,M., Bazzi,H., Fantauzzo,K.A., Barber,A.G.,
            Blaydon,D.C., Nam,J.S., Yoon,J.K., Kelsell,D.P. and Christiano,A.M.
  TITLE     Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia
  JOURNAL   J Invest Dermatol 128 (4), 867-870 (2008)
   PUBMED   17805348
  REMARK    GeneRIF: These findings expand our understanding of the role of
            RSPO4 in nail development and disease.
REFERENCE   7  (bases 1 to 2757)
  AUTHORS   Seitz,C.S., van Steensel,M., Frank,J., Senderek,J., Zerres,K.,
            Hamm,H. and Bergmann,C.
  TITLE     The Wnt signalling ligand RSPO4, causing inherited anonychia, is
            not mutated in a patient with congenital nail hypoplasia/aplasia
            with underlying skeletal defects
  JOURNAL   Br J Dermatol 157 (4), 801-802 (2007)
   PUBMED   17596144
REFERENCE   8  (bases 1 to 2757)
  AUTHORS   Bergmann,C., Senderek,J., Anhuf,D., Thiel,C.T., Ekici,A.B.,
            Poblete-Gutierrez,P., van Steensel,M., Seelow,D., Nurnberg,G.,
            Schild,H.H., Nurnberg,P., Reis,A., Frank,J. and Zerres,K.
  TITLE     Mutations in the gene encoding the Wnt-signaling component
            R-spondin 4 (RSPO4) cause autosomal recessive anonychia
  JOURNAL   Am J Hum Genet 79 (6), 1105-1109 (2006)
   PUBMED   17186469
REFERENCE   9  (bases 1 to 2757)
  AUTHORS   Blaydon,D.C., Ishii,Y., O'Toole,E.A., Unsworth,H.C., Teh,M.T.,
            Ruschendorf,F., Sinclair,C., Hopsu-Havu,V.K., Tidman,N., Moss,C.,
            Watson,R., de Berker,D., Wajid,M., Christiano,A.M. and Kelsell,D.P.
  TITLE     The gene encoding R-spondin 4 (RSPO4), a secreted protein
            implicated in Wnt signaling, is mutated in inherited anonychia
  JOURNAL   Nat Genet 38 (11), 1245-1247 (2006)
   PUBMED   17041604
  REMARK    GeneRIF: RSPO4 has a crucial role in nail morphogenesis.
REFERENCE   10 (bases 1 to 2757)
  AUTHORS   Kim,K.A., Zhao,J., Andarmani,S., Kakitani,M., Oshima,T.,
            Binnerts,M.E., Abo,A., Tomizuka,K. and Funk,W.D.
  TITLE     R-Spondin proteins: a novel link to beta-catenin activation
  JOURNAL   Cell Cycle 5 (1), 23-26 (2006)
   PUBMED   16357527
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL050325.20, AK122609.1 and
            BQ185331.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001029871.3.
            
            Summary: This gene encodes a member of the R-spondin family of
            proteins that share a common domain organization consisting of a
            signal peptide, cysteine-rich/furin-like domain, thrombospondin
            domain and a C-terminal basic region. The encoded protein may be
            involved in activation of Wnt/beta-catenin signaling pathways.
            Mutations in this gene are associated with anonychia congenital.
            Alternate splicing results in multiple transcript
            variants.[provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK122609.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217260.9/ ENSP00000217260.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AL050325.20        107065-107114       c
            51-1318             AK122609.1         1-1268
            1319-2327           AL050325.20        63685-64693         c
            2328-2757           BQ185331.1         16-445              c
FEATURES             Location/Qualifiers
     source          1..2757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..2757
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="R-spondin 4"
                     /db_xref="GeneID:343637"
                     /db_xref="HGNC:HGNC:16175"
                     /db_xref="MIM:610573"
     exon            1..226
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..852
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; R-spondin family, member 4; roof plate-specific
                     spondin-4; hRspo4"
                     /codon_start=1
                     /product="R-spondin-4 isoform 1 precursor"
                     /protein_id="NP_001025042.2"
                     /db_xref="CCDS:CCDS42846.1"
                     /db_xref="GeneID:343637"
                     /db_xref="HGNC:HGNC:16175"
                     /db_xref="MIM:610573"
                     /translation="MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEE
                     NGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGIRGQEVNRCKKCGATCESCFSQD
                     FCIRCKRQFYLYKGKCLPTCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSA
                     WGLESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGERSPGQKKGRKDRRPRKDRK
                     LDRRLDVRPRQPGLQP"
     exon            227..415
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            416..556
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            557..742
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="alignment:Splign:2.1.0"
     exon            743..2757
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2733..2738
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="hexamer: AATAAA"
     polyA_site      2757
                     /gene="RSPO4"
                     /gene_synonym="C20orf182; CRISTIN4"
                     /note="major polyA site"
ORIGIN      
        1 agacctggcg gccggaccga cccgcgcctg gcggatgcgc ccggcgcgcc cacagcagcc
       61 cccgcgcccg ccgtgccgcc gccgggacgt ggggcccttg ggccgtcggg ccgcctgggg
      121 agcgccagcc cggatccggc tgcccagatg cgggcgccac tctgcctgct cctgctcgtc
      181 gcccacgccg tggacatgct cgccctgaac cgaaggaaga agcaagtggg cactggcctg
      241 gggggcaact gcacaggctg tatcatctgc tcagaggaga acggctgttc cacctgccag
      301 cagaggctct tcctgttcat ccgccgggaa ggcatccgcc agtacggcaa gtgcctgcac
      361 gactgtcccc ctgggtactt cggcatccgc ggccaggagg tcaacaggtg caaaaaatgt
      421 ggggccactt gtgagagctg cttcagccag gacttctgca tccggtgcaa gaggcagttt
      481 tacttgtaca aggggaagtg tctgcccacc tgcccgccgg gcactttggc ccaccagaac
      541 acacgggagt gccaggggga gtgtgaactg ggtccctggg gcggctggag cccctgcaca
      601 cacaatggaa agacctgcgg ctcggcttgg ggcctggaga gccgggtacg agaggctggc
      661 cgggctgggc atgaggaggc agccacctgc caggtgcttt ctgagtcaag gaaatgtccc
      721 atccagaggc cctgcccagg agagaggagc cccggccaga agaagggcag gaaggaccgg
      781 cgcccacgca aggacaggaa gctggaccgc aggctggacg tgaggccgcg ccagcccggc
      841 ctgcagccct gaccgccggc tctcccgact ctctggtcct agtcctcggc ccctgcacac
      901 ctcctcctgc tccttctcct cctctcctct tactctttct cctctgtctt ctccatttgt
      961 cctctctttc tttccaccct tctatcattt ttctgtcagt ctaccttccc tttctttttc
     1021 ttttttattt cctttatttc ttccacctcc attctcctct cctttctccc tccctccttc
     1081 ccttccttcc tcttctttct cacttatctt ttatctttcc ttttctttct tcctgtgttt
     1141 cttcctgtcc ttcaccgcat ccttctctct ctccctcctc ttgtctccct ctcacacaca
     1201 ctttaagagg gaccatgagc ctgtgccctc ccctgcagct ttctctatct acaacttaaa
     1261 gaaagcaaac atcttttccc aggcctttcc ctgaccccat ctttgcagag aaagggtttc
     1321 cagagggcaa agctgggaca cagcacaggt gaatcctgaa ggccctgctt ctgctctggg
     1381 ggaggctcca ggaccctgag ctgtgagcac ctggttctct ggacagtccc cagaggccat
     1441 ttccacagcc ttcagccacc agccaccccg aggagctggc tggacaaggc tccagggctt
     1501 ccagaggcct ggcttggaca cctcccccag ctggccgtgg agggtcacaa cctggcctct
     1561 gggtgggcag ccagccctgg agggcatcct ctgcaagctg cctgccaccc tcatcggcac
     1621 tcccccacag gcctccctct catgggttcc atgccccttt ttcccaagcc ggatcaggtg
     1681 agctgtcact gctgggggat ccacctgccc agcccagaag aggccactga aacggaaagg
     1741 aaagctgaga ttatccagca gctctgttcc ccacctcagc gcttcctgcc catgtgggga
     1801 aacaggtctg agaaggaagg ggcttgccca gggtcacaca ggaagccttc aggctctgct
     1861 tctgcctgat ggctctgctc agcacattca cggtggagag gagaatttgg gggtcacttg
     1921 aggggggaaa tgtagggaat tgtgggtggg gagcaaggga agatccgtgc actcgtccac
     1981 acccaccacc acactcgctg acacccaccc ccacacgctg acacccaccc ccacacttgc
     2041 ccacacccat caccgcactc gcccacaccc accaccacac tgccccacac ccaccaccac
     2101 actcccccac acccaccacc acactcgccc acacccacca ccagtgactt gagcatctgt
     2161 gcttcgctgt gacgcccctc gccctaggca ggaacgacgc tgggaggagt ctccaggtca
     2221 gacccagctt ggaagcaagt ctgtcctcac tgcctatcct tctgccatca taacaccccc
     2281 ttcctgctct gctccccgga atcctcagaa acgggatttg tatttgccgt gactggttgg
     2341 cctgaacacg tagggctccg tgactgggac aggaatgggc aggagaagca agagtcggag
     2401 ctccaagggg cccaggggtg gcctggggaa ggaagatggt cagcaggctg ggggagaggc
     2461 tctaggtgat gaaatattac attcccgacc ccaagagagc acccaccctc agacctgccc
     2521 tccacctggc agctggggag ccctggcctg aacccccccc tcccagcagg cccaccctct
     2581 ctctgacttc cctgctctca cctccccgag aacagctaga gccccctcct ccgcctggcc
     2641 aggccaccag cttctcttct gcaaacgttt gtgcctctga aatgctccgt tgttattgtt
     2701 tcaagaccct aacttttttt taaaactttc ttaataaagg gaaaagaaac ttgtaaa
//
