LOCUS       NM_001363822            1717 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens FAM3 metabolism regulating signaling molecule A
            (FAM3A), transcript variant 7, mRNA.
ACCESSION   NM_001363822 XM_024452417
VERSION     NM_001363822.2
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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 1717)
  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 AC244090.3.
            
            On Jun 2, 2019 this sequence version replaced NM_001363822.1.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038195.2744836.1,
                                           SRR18074968.4100648.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-323               AC244090.3         142689-143011       c
            324-376             AC244090.3         142539-142591       c
            377-490             AC244090.3         139602-139715       c
            491-514             AC244090.3         138627-138650       c
            515-638             AC244090.3         135253-135376       c
            639-697             AC244090.3         135068-135126       c
            698-769             AC244090.3         134590-134661       c
            770-854             AC244090.3         134185-134269       c
            855-981             AC244090.3         133982-134108       c
            982-1717            AC244090.3         132950-133685       c
FEATURES             Location/Qualifiers
     source          1..1717
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1717
                     /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..323
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            324..376
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     CDS             364..1077
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="isoform 5 is encoded by transcript variant 7;
                     cytokine-like protein 2-19; family with sequence
                     similarity 3 member A"
                     /codon_start=1
                     /product="protein FAM3A isoform 5"
                     /protein_id="NP_001350751.1"
                     /db_xref="CCDS:CCDS87800.1"
                     /db_xref="GeneID:60343"
                     /db_xref="HGNC:HGNC:13749"
                     /db_xref="MIM:300492"
                     /translation="MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSP
                     ESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVG
                     RGLNIALVNGPLPPDTGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDD
                     PATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYE
                     GWPEALEMEGCIPRRSTAS"
     exon            377..490
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            491..514
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            515..638
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            639..697
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            698..769
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            770..854
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            855..981
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     exon            982..1717
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1695..1700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM3A"
                     /gene_synonym="2.19; DLD; DXS560S; XAP-7"
                     /note="hexamer: AATAAA"
     polyA_site      1717
                     /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 cagtgcactt gccggcggtc ccaacccagc aggagaagtg
      361 gacatgaggt tggcaggccc tctccgcatt gtggtcctag tcgtcagtgt gggtgtcaca
      421 tggatcgtgg tcagcatcct cctgggtggg cctggcagtg gctttcctcg catccagcaa
      481 ctcttcacca gtccagagag ctcggtgact gcagcgccac gggccaggaa gtacaagtgt
      541 ggcctgcccc agccgtgtcc tgaggagcac ctggccttcc gcgtggtcag cggggccgcc
      601 aacgtcattg ggcccaagat ctgcctcgag gacaagatgc tgatgagcag cgtcaaggac
      661 aacgtgggcc gcgggctgaa catcgccctg gtgaacgggc ccctccctcc tgacacaggg
      721 gtcagcggcg agctcatcga ggcccgggcc tttgacatgt gggccggaga tgtcaacgac
      781 ctgttgaagt ttattcggcc actgcacgaa ggcaccctgg tgttcgtggc atcctacgac
      841 gacccagcca ccaagatgaa tgaagagacc agaaagctct tcagtgagct gggcagcagg
      901 aacgccaagg agctggcctt ccgggacagc tgggtgtttg tcggggccaa gggtgtgcag
      961 aacaagagcc cctttgagca gcacgtgaag aacagtaagc acagcaacaa gtacgaaggc
     1021 tggcccgagg cgctggagat ggaaggctgt atcccgcgga gaagcacggc cagctagcac
     1081 ggccagtgcc aggaccgggc cgagggaggc cagaccaagg gaggcacgcg cgctgccggg
     1141 cggacagagg ctgaggctca caccccacac ccgggcagga gcgctccctg gccccaacac
     1201 atcggggctc cgaggcagtg accagaacgt ggtctcaagg tggtgggggc tatgggggct
     1261 gcagggggta gccctgccgc actttgtcac gggagcccag ggtacccgcc tccttttcgt
     1321 aacactgttc cccccggtca gcccatctag ccctgtcctc cattcctcac gccatctcca
     1381 tccccatctt gagtcctgga acggccctgg gtgcctgccc ctcactgtgc atctctggga
     1441 gcagcccggc aggttggggc gtcttccaga acctctccct tctggagcca ctctgcactg
     1501 cgggctaaac atgtttccag tgtgattcct tccagtgagc caaacccggt ggctgcttca
     1561 tgagcctgac tgcctctcgc ctgctctcag caggaaggga cccctggagc aggctggccc
     1621 ggggtggtga agtagctgga gcccgatcac agtcccgcgg tttgtcaggg ggcccacctt
     1681 ctagatgacc ccttaataaa gtgatggccc cacagaa
//
