LOCUS       NM_031478               2325 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens TLC domain containing 3B (TLCD3B), transcript variant
            1, mRNA.
ACCESSION   NM_031478
VERSION     NM_031478.6
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 2325)
  AUTHORS   Bertrand,R.E., Wang,J., Xiong,K.H., Thangavel,C., Qian,X.,
            Ba-Abbad,R., Liang,Q., Simoes,R.T., Sampaio,S.A.M., Carss,K.J.,
            Lucy Raymond,F., Robson,A.G., Webster,A.R., Arno,G., Porto,F.B.O.
            and Chen,R.
  TITLE     Ceramide synthase TLCD3B is a novel gene associated with human
            recessive retinal dystrophy
  JOURNAL   Genet Med 23 (3), 488-497 (2021)
   PUBMED   33077892
  REMARK    GeneRIF: Ceramide synthase TLCD3B is a novel gene associated with
            human recessive retinal dystrophy.
REFERENCE   2  (bases 1 to 2325)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   3  (bases 1 to 2325)
  AUTHORS   Yamashita-Sugahara,Y., Tokuzawa,Y., Nakachi,Y.,
            Kanesaki-Yatsuka,Y., Matsumoto,M., Mizuno,Y. and Okazaki,Y.
  TITLE     Fam57b (family with sequence similarity 57, member B), a novel
            peroxisome proliferator-activated receptor gamma target gene that
            regulates adipogenesis through ceramide synthesis
  JOURNAL   J Biol Chem 288 (7), 4522-4537 (2013)
   PUBMED   23275342
  REMARK    Erratum:[J Biol Chem. 2020 Apr 10;295(15):5176. doi:
            10.1074/jbc.AAC120.013475.. PMID: 32277067]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093512.2, AL535138.3,
            BQ185065.1, AB593089.1 and BM676198.1.
            
            On Jun 2, 2019 this sequence version replaced NM_031478.5.
            
            Summary: This gene encodes a transmembrane protein, which may be a
            likely target of peroxisome proliferator-activated receptor gamma
            (PPAR-gamma). The product of the orthologous gene in mouse is
            related to obesity. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF370365.1, GQ891450.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380495.9/ ENSP00000369863.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-406               AC093512.2         98916-99321         c
            407-409             AL535138.3         9-11
            410-466             BQ185065.1         509-565             c
            467-2324            AB593089.1         1-1858
            2325-2325           BM676198.1         267-267
FEATURES             Location/Qualifiers
     source          1..2325
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..2325
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /note="TLC domain containing 3B"
                     /db_xref="GeneID:83723"
                     /db_xref="HGNC:HGNC:25295"
                     /db_xref="MIM:615175"
     exon            1..869
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /inference="alignment:Splign:2.1.0"
     CDS             745..1569
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM57B; epididymis secretory sperm binding
                     protein; family with sequence similarity 57 member B; TLC
                     domain ceramide synthase 3B; TLC domain 3B; TLC
                     domain-containing protein 3B"
                     /codon_start=1
                     /product="ceramide synthase isoform 1"
                     /protein_id="NP_113666.2"
                     /db_xref="CCDS:CCDS10667.2"
                     /db_xref="GeneID:83723"
                     /db_xref="HGNC:HGNC:25295"
                     /db_xref="MIM:615175"
                     /translation="MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLV
                     SSVQAIMASTAGYIVSTSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQV
                     KGHGGDDGAARAPGSTWAIARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLG
                     CMLMAEVSTPFVCLGKILIQYKQQHTLLHKVNGALMLLSFLCCRVLLFPYLYWAYGRH
                     AGLPLLAVPLAIPAHVNLGAALLLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD"
     exon            870..953
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1188
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1284
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..2325
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2299..2304
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /note="hexamer: AATAAA"
     polyA_site      2325
                     /gene="TLCD3B"
                     /gene_synonym="CORD22; FAM57B; FP1188"
                     /note="major polyA site"
ORIGIN      
        1 agagctgcat ggggagacgc cgctgcaggt ccggtttctc ggtgtctggt cggtgccatc
       61 attttcctgc ccctcccccg tcctccccaa gctggccact tcccctcccc ctccccctcc
      121 ccaccgaggg ggcagggggc tgggcacgga gtctctatga tgatgccatg tgcggtgtct
      181 gtgccgggcg gcagggactg gggcggcagc gagaggaggc agtggagcca ggagagcggt
      241 ggtgaccgct gaccgcttgc ccggctgctc ctccgctccc tcccgcccac ctccttcctt
      301 tggggctggt actcagaccc acccccaccc cctccccgcc tcctcgggcc ctcccagcct
      361 ctcacgtaag cctcccctcc ccacctgcct ggtggctccc tcccctcccc catccgcatc
      421 ctcctcctcc tgtcccctct tcctctctgt ccctcaccaa gccatcccct ctttgcctct
      481 ccccatccct cgctggcctg ctcctgctcc ccttctccca tcctcccctc ccccgtctct
      541 gcccagccag ccccctcccg actccccagt ttcatcggac tccctggccc catcccgtcc
      601 ccgccctggc ccctttgtgc cccttctcat cgttttctcc ctccttcccg ggcttggcgt
      661 cccttctcca cccctaactc cttccactcg gcctccctgc cccttcacgg cccgcctgcc
      721 tccctgccca agtcctgagc caccatgctg accccgatgg tggccggggg ggtggtgttc
      781 cccggactct tcctcctctc caagaacacg ctccagcggc tgccccagct acgctgggag
      841 gaggccgacg cagtcattgt ctcagccagg ctggtgtcct ctgtccaggc catcatggcc
      901 tccactgccg gctacatcgt ctccacctcc tgcaagcaca tcattgatga ccaacactgg
      961 ctgtcctctg cctacacgca atttgctgtg ccctacttca tctacgacat ctacgccatg
     1021 ttcctctgtc actggcacaa gcaccaggtc aaagggcatg gaggggacga cggagcggcc
     1081 agagccccgg gcagcacgtg ggccatagcg cgtggctacc tgcacaagga gttcctcatg
     1141 gtgctccacc atgccgccat ggtgctggtg tgcttcccac tctcagtggt gtggcgacag
     1201 ggtaagggag acttctttct gggttgcatg ttgatggcag aggtcagcac gcccttcgtc
     1261 tgccttggca agatcctcat ccagtacaag cagcagcaca cactgctgca caaggtgaac
     1321 ggggccctga tgctgctcag cttcctctgc tgccgggtgc tgctctttcc ctacctgtac
     1381 tgggcctacg ggcgccatgc cggcctgccc ctgctggccg tgcccctggc catccctgcc
     1441 cacgtcaacc tgggcgctgc gctgctcctg gcccctcagc tctactggtt cttcctcatc
     1501 tgccgtgggg cctgccgcct cttctggccc cgctcccggc cgcccccggc ctgccaggcc
     1561 caggactgag gccgggggcc gggaccctcc ccctccccac ccccaccccc gtggagacag
     1621 ggctctgggg ctgatggctg gggttgggag ccagggtcct cttgcccgga caaccccagg
     1681 actgacgatg accccgaaag ggaagaggcc ccatctctcg gggactgagg gggtggagag
     1741 aggggacctc ttccccctac tctgccccct tcctgcacac ccttgcgctg gaggagggga
     1801 gggggcaccg cctcccaccc actgagggca ggagggcttg tggggaggga caccaacagg
     1861 gtttcaaggg gaccaggagt cagaatgtgg ggagacgcct ctgccaaggc catcccagcc
     1921 cctatgctgc catcccccag ggctccccat cacccgagag gagaggacgc cccaactaac
     1981 ccccgctggc cctcgggcct cccgagtggc cggctgcaac cacggctcct ctccagggta
     2041 ggccagcttg aggaatctta tttattttat ttatttaccc aaatttgaac tagtctgttg
     2101 ggttggggga aggaggtggc tgctaccccc aagccttccc agtgctgaca accccggggg
     2161 caggcgaggg cgcccagtcc ctcaccatcg gctgcacatc gcgccctcgg gccctgccat
     2221 gtccctggtg ctactgacct ctcaaggctt cctccaatct ggggtcgggg gaccctggga
     2281 ggtgctttac agaccgctaa taaaagacga tctgcgtgaa cgcca
//
