LOCUS       NM_017565               4688 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens FAM20A golgi associated secretory pathway pseudokinase
            (FAM20A), transcript variant 1, mRNA.
ACCESSION   NM_017565
VERSION     NM_017565.4
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 4688)
  AUTHORS   Ding,J.N., Yu,M., Liu,H.C., Sun,K., Wang,J., Xu,X.L., Liu,Y. and
            Han,D.
  TITLE     FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with
            Functional Verification and Histological Features
  JOURNAL   Chin J Dent Res 27 (1), 53-63 (2024)
   PUBMED   38546520
  REMARK    GeneRIF: FAM20A-Associated Amelogenesis Imperfecta: Gene Variants
            with Functional Verification and Histological Features.
REFERENCE   2  (bases 1 to 4688)
  AUTHORS   Siddiqui,M.F., Li,J., Wang,S., Zhang,H., Qin,C. and Lu,Y.
  TITLE     FAM20A is a golgi-localized Type II transmembrane protein
  JOURNAL   Sci Rep 14 (1), 6518 (2024)
   PUBMED   38499693
  REMARK    GeneRIF: FAM20A is a golgi-localized Type II transmembrane protein.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4688)
  AUTHORS   Sriwattanapong,K., Theerapanon,T., Khamwachirapitak,C., Sae-Ear,P.,
            Srijunbarl,A., Porntaveetus,T. and Shotelersuk,V.
  TITLE     Deep dental phenotyping and a novel FAM20A variant in patients with
            amelogenesis imperfecta type IG
  JOURNAL   Oral Dis 30 (2), 537-550 (2024)
   PUBMED   36650945
  REMARK    GeneRIF: Deep dental phenotyping and a novel FAM20A variant in
            patients with amelogenesis imperfecta type IG.
REFERENCE   4  (bases 1 to 4688)
  AUTHORS   Wang,S.K., Zhang,H., Wang,Y.L., Lin,H.Y., Seymen,F., Koruyucu,M.,
            Wright,J.T., Kim,J.W., Simmer,J.P. and Hu,J.C.
  TITLE     FAM20A mutations and transcriptome analyses of dental pulp tissues
            of enamel renal syndrome
  JOURNAL   Int Endod J 56 (8), 943-954 (2023)
   PUBMED   37159186
  REMARK    GeneRIF: FAM20A mutations and transcriptome analyses of dental pulp
            tissues of enamel renal syndrome.
REFERENCE   5  (bases 1 to 4688)
  AUTHORS   Hassib,N.F., Shoeib,M.A., ElSadek,H.A., Wali,M.E., Mostafa,M.I. and
            Abdel-Hamid,M.S.
  TITLE     Two new families with enamel renal syndrome: A novel FAM20A gene
            mutation and review of literature
  JOURNAL   Eur J Med Genet 63 (11), 104045 (2020)
   PUBMED   32835847
  REMARK    GeneRIF: Two new families with enamel renal syndrome: A novel
            FAM20A gene mutation and review of literature.
            Review article
REFERENCE   6  (bases 1 to 4688)
  AUTHORS   Tagliabracci,V.S., Engel,J.L., Wen,J., Wiley,S.E., Worby,C.A.,
            Kinch,L.N., Xiao,J., Grishin,N.V. and Dixon,J.E.
  TITLE     Secreted kinase phosphorylates extracellular proteins that regulate
            biomineralization
  JOURNAL   Science 336 (6085), 1150-1153 (2012)
   PUBMED   22582013
REFERENCE   7  (bases 1 to 4688)
  AUTHORS   Cho,S.H., Seymen,F., Lee,K.E., Lee,S.K., Kweon,Y.S., Kim,K.J.,
            Jung,S.E., Song,S.J., Yildirim,M., Bayram,M., Tuna,E.B., Gencay,K.
            and Kim,J.W.
  TITLE     Novel FAM20A mutations in hypoplastic amelogenesis imperfecta
  JOURNAL   Hum Mutat 33 (1), 91-94 (2012)
   PUBMED   21990045
  REMARK    GeneRIF: Three homozygous mutations in three families, and a
            compound heterozygous mutation in one family with hypoplastic
            amelogenesis imperfecta have been identified in FAM20A.
REFERENCE   8  (bases 1 to 4688)
  AUTHORS   O'Sullivan,J., Bitu,C.C., Daly,S.B., Urquhart,J.E., Barron,M.J.,
            Bhaskar,S.S., Martelli-Junior,H., dos Santos Neto,P.E.,
            Mansilla,M.A., Murray,J.C., Coletta,R.D., Black,G.C. and Dixon,M.J.
  TITLE     Whole-Exome sequencing identifies FAM20A mutations as a cause of
            amelogenesis imperfecta and gingival hyperplasia syndrome
  JOURNAL   Am J Hum Genet 88 (5), 616-620 (2011)
   PUBMED   21549343
  REMARK    GeneRIF: We identified a homozygous nonsense mutation in exon 2 of
            FAM20A that was not present in the Single Nucleotide Polymorphism
            database (dbSNP), the 1000 Genomes database, or the Centre d'Etude
            du Polymorphisme Humain (CEPH) Diversity Panel.
            GeneRIF: A homozygous nonsense mutation in exon 2 of FAM20A
            underlies Amelogenesis imperfecta (AI) -- disorders of
            biomineralization resulting from failure of normal enamel
            formation.
REFERENCE   9  (bases 1 to 4688)
  AUTHORS   Gonzalez-Begne,M., Lu,B., Han,X., Hagen,F.K., Hand,A.R.,
            Melvin,J.E. and Yates,J.R.
  TITLE     Proteomic analysis of human parotid gland exosomes by
            multidimensional protein identification technology (MudPIT)
  JOURNAL   J Proteome Res 8 (3), 1304-1314 (2009)
   PUBMED   19199708
REFERENCE   10 (bases 1 to 4688)
  AUTHORS   Nalbant,D., Youn,H., Nalbant,S.I., Sharma,S., Cobos,E., Beale,E.G.,
            Du,Y. and Williams,S.C.
  TITLE     FAM20: an evolutionarily conserved family of secreted proteins
            expressed in hematopoietic cells
  JOURNAL   BMC Genomics 6, 11 (2005)
   PUBMED   15676076
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079210.12, AY358197.1,
            BC136686.1, CB530015.1, AL133105.1, N64017.1 and BC036222.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017565.3.
            
            Summary: This locus encodes a protein that is likely secreted and
            may function in hematopoiesis. A mutation at this locus has been
            associated with amelogenesis imperfecta and gingival hyperplasia
            syndrome. Alternatively spliced transcript variants have been
            identified. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: AB545606.1, AY358197.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147, SAMN04284274
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000592554.2/ ENSP00000468308.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-413               AC079210.12        28701-29113
            414-524             AY358197.1         1-111
            525-2289            BC136686.1         1-1765
            2290-2290           CB530015.1         416-416             c
            2291-2681           AL133105.1         987-1377
            2682-3056           N64017.1           1-375               c
            3057-4047           AC079210.12        93321-94311
            4048-4688           BC036222.1         3028-3668
FEATURES             Location/Qualifiers
     source          1..4688
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q24.2"
     gene            1..4688
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="FAM20A golgi associated secretory pathway
                     pseudokinase"
                     /db_xref="GeneID:54757"
                     /db_xref="HGNC:HGNC:23015"
                     /db_xref="MIM:611062"
     exon            1..1105
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     CDS             702..2327
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; protein FAM20A; pseudokinase FAM20A; family
                     with sequence similarity 20, member A"
                     /codon_start=1
                     /product="pseudokinase FAM20A isoform a precursor"
                     /protein_id="NP_060035.2"
                     /db_xref="CCDS:CCDS11679.1"
                     /db_xref="GeneID:54757"
                     /db_xref="HGNC:HGNC:23015"
                     /db_xref="MIM:611062"
                     /translation="MPGLRRDRLLTLLLLGALLSADLYFHLWPQVQRQLRPRERPRGC
                     PCTGRASSLARDSAAAASDPGTIVHNFSRTEPRTEPAGGSHSGSSSKLQALFAHPLYN
                     VPEEPPLLGAEDSLLASQEALRYYRRKVARWNRRHKMYREQMNLTSLDPPLQLRLEAS
                     WVQFHLGINRHGLYSRSSPVVSKLLQDMRHFPTISADYSQDEKALLGACDCTQIVKPS
                     GVHLKLVLRFSDFGKAMFKPMRQQRDEETPVDFFYFIDFQRHNAEIAAFHLDRILDFR
                     RVPPTVGRIVNVTKEILEVTKNEILQSVFFVSPASNVCFFAKCPYMCKTEYAVCGNPH
                     LLEGSLSAFLPSLNLAPRLSVPNPWIRSYTLAGKEEWEVNPLYCDTVKQIYPYNNSQR
                     LLNVIDMAIFDFLIGNMDRHHYEMFTKFGDDGFLIHLDNARGFGRHSHDEISILSPLS
                     QCCMIKKKTLLHLQLLAQADYRLSDVMRESLLEDQLSPVLTEPHLLALDRRLQTILRT
                     VEGCIVAHGQQSVIVDGPVEQLAPDSGQANLTS"
     exon            1106..1290
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1341
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1420
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1421..1513
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1629
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1810
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1920
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            1921..2002
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2062
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     exon            2063..4688
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2661..2666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="hexamer: AATAAA"
     polyA_site      2681
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="major polyA site"
     regulatory      2934..2939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="hexamer: AATAAA"
     polyA_site      2957
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
     regulatory      4666..4671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
                     /note="hexamer: AATAAA"
     polyA_site      4688
                     /gene="FAM20A"
                     /gene_synonym="AI1G; AIGFS; FP2747"
ORIGIN      
        1 agttggccgt cagctgcgcc agaggcaggt gccagcggag agtgggtggg ggtgccggcg
       61 ccaggccagg ctcggggagg ccccgcgcta cctctgcctc taggagtcca ggcgcacaga
      121 caagctcccc ggagccgctc ctgcttcgcc aactccccac tcgcgccgcc cgtgccagcc
      181 gccggcactg gcgtctccgc cgcccgcagg aggagtcgcg ggagcactag cagccgccgc
      241 cgagcgacag catcctcagg agagacgccc cgggctttgc agccggcggc ctccgtccgc
      301 cctccgcggt cgccccccgc cccgtcgccc gtccgcccgc ggtggcagcc ggcgccggcg
      361 ccccggggcc cttcacctgc cgcgagcgtc cgggcgggcg ggcgcacggg agaaaaggcg
      421 caagaagcgg gcaccccggg aaccccattc cctcggctca ctcggcgcgg agaagcgacg
      481 cccgctgact ccgagagccc cggtgctccg tgcacctggt ccccaagttg aggagcgaca
      541 cccctccaca ggggactagc ccgcgcgggg agcattccgg tctcactgac cccggcccac
      601 ccgcgggact ccaggcacct cttctgcccg caccccgcga cccctcccgg gaccccggag
      661 acagccggcc tgcccccggc gtcccccttg gccagcacgc catgccgggg ctgcgccggg
      721 accgcctact gactctgctg ctgctgggcg cgctgctctc cgccgacctc tacttccacc
      781 tctggcccca agtacagcgc cagctgcggc ctcgggagcg cccgcggggg tgcccgtgca
      841 ccggccgcgc ctcctccctg gcgcgggact cggccgcagc tgcctcggac cccggcacga
      901 tcgtgcacaa cttttcccga accgagcccc ggactgaacc ggctggcggc agccacagcg
      961 ggtcgagctc caagttgcag gccctcttcg cccacccgct gtacaacgtc ccggaggagc
     1021 cgcctctcct gggagccgag gactcgctcc tggccagcca ggaggcgctg cggtattacc
     1081 ggaggaaggt ggcccgctgg aacaggcgac acaagatgta cagagagcag atgaacctta
     1141 cctccctgga ccccccactg cagctccgac tcgaggccag ctgggtccag ttccacctgg
     1201 gtattaaccg ccatgggctc tactcccggt ccagccctgt tgtcagcaaa cttctgcaag
     1261 acatgaggca ctttcccacc atcagtgctg attacagtca agatgagaaa gccttgctgg
     1321 gggcatgtga ctgcacccag attgtgaaac ccagtggggt ccacctcaag ctggtgctga
     1381 ggttctcgga tttcgggaag gccatgttca aacccatgag acagcagcga gatgaggaga
     1441 caccagtgga cttcttctac ttcattgact ttcagagaca caatgctgag atcgcagctt
     1501 tccatctgga caggattctg gacttccgac gggtgccgcc aacagtgggg aggatagtaa
     1561 atgtcaccaa ggaaatccta gaggtcacca agaatgaaat cctgcagagt gttttctttg
     1621 tctctccagc gagcaacgtg tgcttcttcg ccaagtgtcc atacatgtgc aagacggagt
     1681 atgctgtctg tggcaaccca cacctgctgg agggttccct ctctgccttc ctgccgtccc
     1741 tcaacctggc ccccaggctg tctgtgccca acccctggat ccgctcctac acactggcag
     1801 gaaaagagga gtgggaggtc aatccccttt actgtgacac agtgaaacag atctacccgt
     1861 acaacaacag ccagcggctc ctcaatgtca tcgacatggc catcttcgac ttcttgatag
     1921 ggaatatgga ccggcaccat tatgagatgt tcaccaagtt cggggatgat gggttcctta
     1981 ttcaccttga caacgccaga gggttcggac gacactccca tgatgaaatc tccatcctct
     2041 cgcctctctc ccagtgctgc atgataaaaa agaaaacact tttgcacctg cagctgctgg
     2101 cccaagctga ctacagactc agcgatgtga tgcgagaatc actgctggaa gaccagctca
     2161 gccctgtcct cactgaaccc cacctccttg ccctggatcg aaggctccaa accatcctaa
     2221 ggacagtgga ggggtgcata gtggcccatg gacagcagag tgtcatagtc gacggcccag
     2281 tggaacagtt ggccccagac tctggccagg ctaacttgac aagctaaggg ctggcagagt
     2341 ccagtttcag aaaatacgcc tggagccaga gcagtcgact cgagtgccga ccctgcgtcc
     2401 tcactcccac ctgttactgc tgggagtcaa gtcagctagg aaggaagcag gacattttct
     2461 caaacagcaa gtggggccca tggaactgaa tctttactcc ttggtgcacc gcttctgtcg
     2521 tgcgttgcct tgctccgttt ttcccaaaaa gcactggctt catcaaggcc accgacgatc
     2581 tcctgagtgc actgggaaat ctgggtatag gtcaggcttg gcagccttga tcccaggaga
     2641 gtactaatgg taacaagtca aataaaagga catcaagtgg atacctgact tctcaggatc
     2701 cttattctag ctacaagtca aagataactc ctggtccaga caaaacacct ggcctatcac
     2761 aagctgacta aaaatctgca ctttgggcca gcgcaggcaa cagtaactct gacaggttca
     2821 aattagacct cacactttct actcatattc tagtcactgg acccatctga atcagtaatc
     2881 cctactgccc ggtcctggag taacttctta gagatattat aacaagtggc aaaaataaaa
     2941 gagggatttg ctaagaatat cagaaaagga gtgttccaat ttgaagagta ttacaattga
     3001 aataacatca aatatgtcac actaagcagc cagtaacaga ataaataatt acaacgaagg
     3061 aaaaaaaaag gaaagtcctc caaggtcagg atggcatggg aacaggccta gcagggacac
     3121 aagcctggag taaggcagga aaagagccaa ggctgactac agcccaccaa ccacaatctt
     3181 cttccctaag accccaggat tgtccccggc ccatccccaa aagaagaaag gggctatgtg
     3241 gaaaggtgag gccctctaga tgcccctccc tgtgacggct ggctcaaaaa agactaagtc
     3301 aggtttttta ttgaagcctc ccttagaaga aagtgtagta gggattcctt gtctcctcta
     3361 ccttctccct gacttgttga tatctgaaac tccttttaat aggaggcttt gtttcttatt
     3421 ccataattaa tgaccgaaaa cacaaaggac agtaaggtct tcattccatg gagtgactag
     3481 tcagtcaaca aaagtaaaaa tgcctcattt catcaaatca acttttccag taaaggccag
     3541 agttcaaata ctgtaagcat gagaatagaa tggagctgtc actaaagaga gtacaaggtc
     3601 aagaaccaga aatgtctcca agctttctgc agtgtgagca aagatagcct cgactggaca
     3661 aataacactt ctgaccccgt ggtaccccca catgactggt atgctgcccc tggactttgt
     3721 gtctctctaa aatcactacc attcactgag atctgaccag gtgaggcact caccaacgct
     3781 acagaagcaa cacacaggtt tccaatcctc tcaaacacag atacaacccc catcctccaa
     3841 tgtgcatgga agaactttaa atctcagaga gagtaagcaa aatcacacaa tttagtggtt
     3901 tagacctatt ccaaagtctt cttttcactg taacacaaaa cccaacagta tcccacccaa
     3961 tttatgaagt caaatttgtt tgcttaaaaa aaaaatcagc tgggcatggg ctcacacctg
     4021 taatcccagc actttgggcc taaacaggca gatcgcttgg tctcaggagc tcgagaccag
     4081 cctgggtaac atgacaaaac cctgtctcta caaaaaaata caaaaaaaaa aaaatttttt
     4141 tttaaatcaa ctctttaaca gagaaacctt aatcccaaag atttccttaa ctgttgtggc
     4201 cctactgcag catagggctc cccacttcat tcactgtctc tcctgcttca agatgtttct
     4261 tccctgtgga tgaagaacca ggagatcaca cacagaaatg ggaaaatatc tgggtaaaaa
     4321 cattcaaaga atagcacaaa atggtttggg acttccaaat aagactctca ggaaagcagg
     4381 ctacagctct acctcaaaac ccgccacctc ctataacgaa ggactggttt tccaatggcc
     4441 tatatacaca ttttgctgca ctctacaaac agaaagcaat aggcttgaat ttcaccatga
     4501 tatgtggtac acctacctta ttattcactt atctttcaac cttccattac tttttgatta
     4561 gtaacaaaat taagactcat ttctcaaaaa tatcagaaaa ccaaccgttt cattcttact
     4621 cgagttcttc cagcatgttc attttgaact gtttacctcc catgaaataa aaagtctctt
     4681 gactctga
//
