LOCUS       NM_001171134            1742 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens FAM3 metabolism regulating signaling molecule A
            (FAM3A), transcript variant 4, mRNA.
ACCESSION   NM_001171134
VERSION     NM_001171134.3
KEYWORDS    RefSeq.
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 1742)
  AUTHORS   Chen,X., Tao,X., Wang,M., Cannon,R.D., Chen,B., Yu,X., Qi,H.,
            Saffery,R., Baker,P.N., Zhou,X., Han,T.L. and Zhang,H.
  TITLE     Circulating extracellular vesicle-derived miR-1299 disrupts hepatic
            glucose homeostasis by targeting the STAT3/FAM3A axis in
            gestational diabetes mellitus
  JOURNAL   J Nanobiotechnology 22 (1), 509 (2024)
   PUBMED   39182087
  REMARK    GeneRIF: Circulating extracellular vesicle-derived miR-1299
            disrupts hepatic glucose homeostasis by targeting the STAT3/FAM3A
            axis in gestational diabetes mellitus.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1742)
  AUTHORS   Li,X., Yuan,F., Xiong,Y., Tang,Y., Li,Z., Ai,J., Miao,J., Ye,W.,
            Zhou,S., Wu,Q., Wang,X., Xu,D., Li,J., Huang,J., Chen,Q., Shen,W.,
            Liu,Y., Hou,F.F. and Zhou,L.
  TITLE     FAM3A plays a key role in protecting against tubular cell
            pyroptosis and acute kidney injury
  JOURNAL   Redox Biol 74, 103225 (2024)
   PUBMED   38875957
  REMARK    GeneRIF: FAM3A plays a key role in protecting against tubular cell
            pyroptosis and acute kidney injury.
REFERENCE   3  (bases 1 to 1742)
  AUTHORS   Hu,C.Q., Hou,T., Xiang,R., Li,X., Li,J., Wang,T.T., Liu,W.J.,
            Hou,S., Wang,D., Zhao,Q.H., Yu,X.X., Xu,M., Liu,X.K., Chi,Y.J. and
            Yang,J.C.
  TITLE     PANX1-mediated ATP release confers FAM3A's suppression effects on
            hepatic gluconeogenesis and lipogenesis
  JOURNAL   Mil Med Res 11 (1), 41 (2024)
   PUBMED   38937853
  REMARK    GeneRIF: PANX1-mediated ATP release confers FAM3A's suppression
            effects on hepatic gluconeogenesis and lipogenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1742)
  AUTHORS   Yang,L., Du,B., Zhang,S. and Wang,M.
  TITLE     FAM3A mediates the phenotypic switch of human aortic smooth muscle
            cells stimulated with oxidised low-density lipoprotein by
            influencing the PI3K-AKT pathway
  JOURNAL   In Vitro Cell Dev Biol Anim 59 (6), 431-442 (2023)
   PUBMED   37474885
  REMARK    GeneRIF: FAM3A mediates the phenotypic switch of human aortic
            smooth muscle cells stimulated with oxidised low-density
            lipoprotein by influencing the PI3K-AKT pathway.
REFERENCE   5  (bases 1 to 1742)
  AUTHORS   Pemberton,L., Barker,R., Cockell,A., Ramachandran,V., Haworth,A.
            and Homfray,T.
  TITLE     Case report: targeted whole exome sequencing enables the first
            prenatal diagnosis of the lethal skeletal dysplasia
            Osteocraniostenosis
  JOURNAL   BMC Med Genet 21 (1), 7 (2020)
   PUBMED   31910817
  REMARK    GeneRIF: In this case prenatal ultrasound images were suggestive of
            a serious but non-lethal skeletal dysplasia. Due to the uncertain
            prognosis the parents were offered Whole Exome Sequencing (WES),
            which identified a specific gene mutation in the FAMIIIa gene
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1742)
  AUTHORS   Yang,J. and Guan,Y.
  TITLE     Family with sequence similarity 3 gene family and nonalcoholic
            fatty liver disease
  JOURNAL   J Gastroenterol Hepatol 28 Suppl 1, 105-111 (2013)
   PUBMED   23855304
  REMARK    Review article
REFERENCE   7  (bases 1 to 1742)
  AUTHORS   Zhou,Y., Jia,S., Wang,C., Chen,Z., Chi,Y., Li,J., Xu,G., Guan,Y.
            and Yang,J.
  TITLE     FAM3A is a target gene of peroxisome proliferator-activated
            receptor gamma
  JOURNAL   Biochim Biophys Acta 1830 (8), 4160-4170 (2013)
   PUBMED   23562554
  REMARK    GeneRIF: Upregulation of FAM3A by PPARgamma activation is
            correlated with increased pAkt level in liver cells
REFERENCE   8  (bases 1 to 1742)
  AUTHORS   Simon,A., Kullberg,B.J., Tripet,B., Boerman,O.C., Zeeuwen,P., van
            der Ven-Jongekrijg,J., Verweij,P., Schalkwijk,J., Hodges,R., van
            der Meer,J.W. and Netea,M.G.
  TITLE     Drosomycin-like defensin, a human homologue of Drosophila
            melanogaster drosomycin with antifungal activity
  JOURNAL   Antimicrob Agents Chemother 52 (4), 1407-1412 (2008)
   PUBMED   18212107
  REMARK    GeneRIF: In the present study, we report a putative human homologue
            of the antimicrobial Drosophila-derived drosomycin, designated
            drosomycin-like defensin (DLD), with specific antifungal activity.
REFERENCE   9  (bases 1 to 1742)
  AUTHORS   Guo,J., Cheng,H., Zhao,S. and Yu,L.
  TITLE     GG: a domain involved in phage LTF apparatus and implicated in
            human MEB and non-syndromic hearing loss diseases
  JOURNAL   FEBS Lett 580 (2), 581-584 (2006)
   PUBMED   16406369
REFERENCE   10 (bases 1 to 1742)
  AUTHORS   Zhu,Y., Xu,G., Patel,A., McLaughlin,M.M., Silverman,C., Knecht,K.,
            Sweitzer,S., Li,X., McDonnell,P., Mirabile,R., Zimmerman,D.,
            Boyce,R., Tierney,L.A., Hu,E., Livi,G.P., Wolf,B.,
            Abdel-Meguid,S.S., Rose,G.D., Aurora,R., Hensley,P., Briggs,M. and
            Young,P.R.
  TITLE     Cloning, expression, and initial characterization of a novel
            cytokine-like gene family
  JOURNAL   Genomics 80 (2), 144-150 (2002)
   PUBMED   12160727
  REMARK    GeneRIF: Expressed prominently in the vascular endothelium,
            particularly capillaries, also in islets of Langerhans.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL539139.3, BM457676.1,
            AK314682.1, X87193.1 and AW612420.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001171134.2.
            
            Summary: This gene encodes a cytokine-like protein. The expression
            of this gene may be regulated by peroxisome proliferator-activated
            receptor gamma, and the encoded protein may be involved in the
            regulation of glucose and lipid metabolism. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Aug
            2013].
            
            Transcript Variant: This variant (4) lacks an in-frame exon in the
            coding region, compared to variant 1. The encoded isoform (3) is
            shorter than 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 :: AK294116.1, SRR18074967.478885.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                AL539139.3         11-39
            30-72               BM457676.1         22-64
            73-794              AK314682.1         1-722
            795-1102            AK314682.1         774-1081
            1103-1738           X87193.1           971-1606
            1739-1742           AW612420.1         19-22               c
FEATURES             Location/Qualifiers
     source          1..1742
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1742
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="FAM3 metabolism regulating signaling molecule A"
                     /db_xref="GeneID:60343"
                     /db_xref="HGNC:HGNC:13749"
                     /db_xref="MIM:300492"
     exon            1..473
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     CDS             461..1102
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="isoform 3 is encoded by transcript variant 4;
                     cytokine-like protein 2-19; family with sequence
                     similarity 3 member A"
                     /codon_start=1
                     /product="protein FAM3A isoform 3"
                     /protein_id="NP_001164605.1"
                     /db_xref="CCDS:CCDS55543.1"
                     /db_xref="GeneID:60343"
                     /db_xref="HGNC:HGNC:13749"
                     /db_xref="MIM:300492"
                     /translation="MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSP
                     ESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVG
                     RGLNIALVNDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKEL
                     AFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS"
     exon            474..587
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            588..611
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            612..735
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            736..794
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            795..879
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1006
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1742
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1720..1725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="hexamer: AATAAA"
     polyA_site      1742
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="major polyA site"
ORIGIN      
        1 attgccgggc ctgcctggcc accctgcgca gcggccttgc gtcctctccc ggggcggagc
       61 gggtcggcgg gcctgacagg gaacctccct gaccgagccc acgtctcccc acggccagag
      121 aaatctccgg cccggcccgc atcgccagcc cccaggcccg gaggaacggc ccgagcccag
      181 gagaaccaca tcttcgtccc agccccggag gctcctgtgg gcaagatcgt gagccaacgg
      241 gttcctgagg cccctcctgg ccaggcaggg tttccccgcg cgtttccgag gagccctgcc
      301 tggccgggcg gctggacaaa caggtcgtag caccgatcgc gcccgccccc agcaggggtc
      361 ccgcacaggc ttgcccctga cccccaccca aacctgtcct tccgctttgc ccccaaacag
      421 tgcacttgcc ggcggtccca acccagcagg agaagtggac atgaggttgg caggccctct
      481 ccgcattgtg gtcctagtcg tcagtgtggg tgtcacatgg atcgtggtca gcatcctcct
      541 gggtgggcct ggcagtggct ttcctcgcat ccagcaactc ttcaccagtc cagagagctc
      601 ggtgactgca gcgccacggg ccaggaagta caagtgtggc ctgccccagc cgtgtcctga
      661 ggagcacctg gccttccgcg tggtcagcgg ggccgccaac gtcattgggc ccaagatctg
      721 cctcgaggac aagatgctga tgagcagcgt caaggacaac gtgggccgcg ggctgaacat
      781 cgccctggtg aacgatgtca acgacctgtt gaagtttatt cggccactgc acgaaggcac
      841 cctggtgttc gtggcatcct acgacgaccc agccaccaag atgaatgaag agaccagaaa
      901 gctcttcagt gagctgggca gcaggaacgc caaggagctg gccttccggg acagctgggt
      961 gtttgtcggg gccaagggtg tgcagaacaa gagccccttt gagcagcacg tgaagaacag
     1021 taagcacagc aacaagtacg aaggctggcc cgaggcgctg gagatggaag gctgtatccc
     1081 gcggagaagc acggccagct agcacggcca gtgccaggac cgggccgagg gaggccagac
     1141 caagggaggc acgcgcgctg ccgggcggac agaggctgag gctcacaccc cacacccggg
     1201 caggagcgct ccctggcccc aacacatcgg ggctccgagg cagtgaccag aacgtggtct
     1261 caaggtggtg ggggctatgg gggctgcagg gggtagccct gccgcacttt gtcacgggag
     1321 cccagggtac ccgcctcctt ttcgtaacac tgttcccccc ggtcagccca tctagccctg
     1381 tcctccattc ctcacgccat ctccatcccc atcttgagtc ctggaacggc cctgggtgcc
     1441 tgcccctcac tgtgcatctc tgggagcagc ccggcaggtt ggggcgtctt ccagaacctc
     1501 tcccttctgg agccactctg cactgcgggc taaacatgtt tccagtgtga ttccttccag
     1561 tgagccaaac ccggtggctg cttcatgagc ctgactgcct ctcgcctgct ctcagcagga
     1621 agggacccct ggagcaggct ggcccggggt ggtgaagtag ctggagcccg atcacagtcc
     1681 cgcggtttgt cagggggccc accttctaga tgacccctta ataaagtgat ggccccacag
     1741 aa
//
