LOCUS       NM_032508               2720 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 185A (TMEM185A), transcript
            variant 1, mRNA.
ACCESSION   NM_032508 XM_005278198
VERSION     NM_032508.4
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 2720)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2720)
  AUTHORS   Kim,Y.S., Hwan,J.D., Bae,S., Bae,D.H. and Shick,W.A.
  TITLE     Identification of differentially expressed genes using an annealing
            control primer system in stage III serous ovarian carcinoma
  JOURNAL   BMC Cancer 10, 576 (2010)
   PUBMED   20969748
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2720)
  AUTHORS   Lukusa,T. and Fryns,J.P.
  TITLE     Human chromosome fragility
  JOURNAL   Biochim Biophys Acta 1779 (1), 3-16 (2008)
   PUBMED   18078840
  REMARK    Review article
REFERENCE   4  (bases 1 to 2720)
  AUTHORS   Maurer,M.H., Grunewald,S., Gassler,N., Rossner,M., Propst,F.,
            Wurz,R., Weber,D., Kuner,T., Kuschinsky,W. and Schneider,A.
  TITLE     Cloning of a novel neuronally expressed orphan G-protein-coupled
            receptor which is up-regulated by erythropoietin, interacts with
            microtubule-associated protein 1b and colocalizes with the
            5-hydroxytryptamine 2a receptor
  JOURNAL   J Neurochem 91 (4), 1007-1017 (2004)
   PUBMED   15525354
  REMARK    GeneRIF: The mouse ee3 is an orphan G-protein-coupled receptor with
            potential connections to erythropoietin and 5HT2a receptor
            signalling. ee3_2, a similar gene, is also described, along with
            human orthologs.
REFERENCE   5  (bases 1 to 2720)
  AUTHORS   Steiner,C.E., Guerreiro,M.M. and Marques-de-Faria,A.P.
  TITLE     Genetic and neurological evaluation in a sample of individuals with
            pervasive developmental disorders
  JOURNAL   Arq Neuropsiquiatr 61 (2A), 176-180 (2003)
   PUBMED   12806492
  REMARK    GeneRIF: Observational study of genetic testing. (HuGE Navigator)
REFERENCE   6  (bases 1 to 2720)
  AUTHORS   Holden,J.J., Walker,M., Chalifoux,M. and White,B.N.
  TITLE     Trinucleotide repeats at the FRAXF locus: frequency and
            distribution in the general population
  JOURNAL   Am J Med Genet 64 (2), 424-427 (1996)
   PUBMED   8844097
REFERENCE   7  (bases 1 to 2720)
  AUTHORS   Holden,J.J., Wing,M., Chalifoux,M., Julien-Inalsingh,C., Schutz,C.,
            Robinson,P., Szatmari,P. and White,B.N.
  TITLE     Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF
            loci in male multiplex families with autism and pervasive
            developmental disorders
  JOURNAL   Am J Med Genet 64 (2), 399-403 (1996)
   PUBMED   8844091
REFERENCE   8  (bases 1 to 2720)
  AUTHORS   Ritchie,R.J., Knight,S.J., Hirst,M.C., Grewal,P.K., Bobrow,M.,
            Cross,G.S. and Davies,K.E.
  TITLE     The cloning of FRAXF: trinucleotide repeat expansion and
            methylation at a third fragile site in distal Xqter
  JOURNAL   Hum Mol Genet 3 (12), 2115-2121 (1994)
   PUBMED   7881407
REFERENCE   9  (bases 1 to 2720)
  AUTHORS   Parrish,J.E., Oostra,B.A., Verkerk,A.J., Richards,C.S.,
            Reynolds,J., Spikes,A.S., Shaffer,L.G. and Nelson,D.L.
  TITLE     Isolation of a GCC repeat showing expansion in FRAXF, a fragile
            site distal to FRAXA and FRAXE
  JOURNAL   Nat Genet 8 (3), 229-235 (1994)
   PUBMED   7874164
REFERENCE   10 (bases 1 to 2720)
  AUTHORS   Hirst,M.C., Barnicoat,A., Flynn,G., Wang,Q., Daker,M., Buckle,V.J.,
            Davies,K.E. and Bobrow,M.
  TITLE     The identification of a third fragile site, FRAXF, in Xq27--q28
            distal to both FRAXA and FRAXE
  JOURNAL   Hum Mol Genet 2 (2), 197-200 (1993)
   PUBMED   8499907
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF530473.1 and DA206736.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032508.3.
            
            Summary: The protein encoded by this gene is predicted to be a
            transmembrane protein. This gene is best known for localizing to
            the CpG island of the fragile site FRAXF. The 5' untranslated
            region of this gene contains a CGG trinucleotide repeat sequence
            that normally consists of 7-40 tandem CGG repeats but which can
            expand to greater than 300 repeats. Methylation of the CpG island
            leads to transcriptional silencing of this gene, but neither the
            silencing nor an expanded repeat region appear to manifest itself
            in a clear phenotypic manner. Alternative splicing results in
            multiple transcript variants. A pseudogene of this gene has been
            defined on the X chromosome. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: AF530473.1, SRR1660803.195613.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000600449.8/ ENSP00000471932.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AF530473.1         121-156
            37-57               DA206736.1         49-69
            58-2055             AF530473.1         157-2154
            2056-2720           AF530473.1         2157-2821
FEATURES             Location/Qualifiers
     source          1..2720
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..2720
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /note="transmembrane protein 185A"
                     /db_xref="GeneID:84548"
                     /db_xref="HGNC:HGNC:17125"
                     /db_xref="MIM:300031"
     exon            1..250
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..1265
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /note="isoform 1 is encoded by transcript variant 1;
                     family with sequence similarity 11, member A; fragile
                     site, folic acid type, rare, fra(X)(q28) F"
                     /codon_start=1
                     /product="transmembrane protein 185A isoform 1"
                     /protein_id="NP_115897.1"
                     /db_xref="CCDS:CCDS14689.1"
                     /db_xref="GeneID:84548"
                     /db_xref="HGNC:HGNC:17125"
                     /db_xref="MIM:300031"
                     /translation="MNLRGLFQDFNPSKFLIYACLLLFSVLLALRLDGIIQWSYWAVF
                     APIWLWKLMVIVGASVGTGVWARNPQYRAEGETCVEFKAMLIAVGIHLLLLMFEVLVC
                     DRIERGSHFWLLVFMPLFFVSPVSVAACVWGFRHDRSLELEILCSVNILQFIFIALRL
                     DKIIHWPWLVVCVPLWILMSFLCLVVLYYIVWSVLFLRSMDVIAEQRRTHITMALSWM
                     TIVVPLLTFEILLVHKLDGHNAFSCIPIFVPLWLSLITLMATTFGQKGGNHWWFGIRK
                     DFCQFLLEIFPFLREYGNISYDLHHEDNEETEETPVPEPPKIAPMFRKKARVVITQSP
                     GKYVLPPPKLNIEMPD"
     exon            251..427
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     exon            428..635
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     exon            636..719
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     exon            720..896
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1020
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..2720
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2699..2704
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /note="hexamer: AATAAA"
     polyA_site      2720
                     /gene="TMEM185A"
                     /gene_synonym="CXorf13; ee3; FAM11A; FRAXF"
                     /note="major polyA site"
ORIGIN      
        1 aggtttctcc gggcggcggc ggcggcggcg gcggcggcgg cggcggcggc ggcggcgacg
       61 gcgacggcga cggcagcggg gacggcagca gtagcgggag cagcagcgtg gacgcggctg
      121 gcgctggcgc catgaacccg ctgtaaggcg caggctgtgc agcacggggt gcgggggagg
      181 aggaggagga cgccgcggtg aagttctccg ccatgaacct gaggggcctc ttccaggact
      241 tcaacccgag taaattcctc atctatgcct gtctgctgct gttctctgtg ctgctggccc
      301 ttcgtttgga tggcatcata cagtggagtt actgggctgt ctttgctcca atatggctgt
      361 ggaagttaat ggtcattgtt ggagcctcag ttggaactgg agtctgggca cgaaatcctc
      421 aatatcgagc agaaggagaa acgtgtgtgg agtttaaagc catgttgatt gcagtgggca
      481 tccacttgct cttgttgatg tttgaagttc tggtctgtga cagaatcgag agaggaagcc
      541 atttctggct cctggtcttc atgccgctgt tctttgtttc cccggtgtct gttgcagctt
      601 gcgtttgggg ctttcgacat gacaggtcac tagagttaga aatcctgtgt tctgtcaaca
      661 ttctccagtt tatattcatt gccttaagac tggacaagat catccactgg ccctggcttg
      721 ttgtgtgtgt cccgctgtgg attctcatgt cctttctgtg cctggtggtc ctctactaca
      781 ttgtgtggtc cgtcttgttc ttgcgctcta tggatgtgat tgcggagcag cgcaggacac
      841 acataaccat ggccctgagc tggatgacca tcgtcgtgcc ccttcttaca tttgagattc
      901 tgctggttca caaactggat ggccacaacg ccttctcctg catcccgatc tttgtccccc
      961 tttggctctc gttgatcacg ctgatggcaa ccacatttgg acagaaggga ggaaaccact
     1021 ggtggtttgg tatccgcaaa gatttctgtc agtttctgct tgaaatcttc ccatttctac
     1081 gagaatatgg aaacatttcc tatgatctcc atcacgaaga taatgaagaa accgaagaga
     1141 ccccagttcc ggagccccct aaaatcgcac ccatgtttcg aaagaaggcc agggtggtca
     1201 ttacccagag ccctgggaag tatgtgctcc cacctcccaa attaaatatc gaaatgccag
     1261 attagatgcc acttccgggg acagagctta agtggactgg gacgcactct ctccgccttc
     1321 ctctgccccc tcgttcaccc cgcagaccag aaccagtact ggagctgggt ctccaggtac
     1381 gtccatctca tgccttgttt gcatccagcg cctatcagcc actcaccacg acgggacgcg
     1441 gaagtggcag gtgacggggg tgtgtgccag cagatgcgga tgccaggaag agtgtgagaa
     1501 caggggtggg attaccgtct gtctgggagg ggctccaggt acccctcttc cccgtcagac
     1561 ccactgggag atggctgctt gccaggcccc cagaaggaac atctgtctat acggtgctga
     1621 aatcccaatc aaaagtattg tttagaaatg tatttctcca cagggctgac ctcctgcagc
     1681 tcgctgagca ctcccaggtc ctcagcactc ccaggtcgtg gctggggcag tcagtaggaa
     1741 ctgtaactat gtctctgatg caccacgtgt ttagacacag cacagtcctt ttttctgttc
     1801 ctactgtgga agtagtttct ctttgggcat gctgacagca gtttttcata gcctcacgga
     1861 tgagcccttt ctacgggagt gactccatgc ttgtatacag agtatttata caaatgtttt
     1921 agcatcttca tatgcggtgt taacccctag ttctgtacag catattctgt tcaagtattt
     1981 ttttacaagc ttgtgctgta ggcacatgcc ttctgctgca gaagtggacg cccgtggcac
     2041 actccccccc cccccgtggg gtgccacgcc ttcatgggac attgccactt ctgccctgga
     2101 actcgtgcag gtacgtagta gctgctactg ccacaacggc aacaccaagc aagagatggt
     2161 ccatgctttt ctgacgttct cagaatagtg gctagcttca aacctgacaa gcgctgcttg
     2221 aagccggaac actagagaat gttgctgaga gcagaaacgg ccacgcgggt cacgactatg
     2281 cgtgggaaag tctcaagctt ccctcctgcc agcaacaaga aggctttgga gtaggcatga
     2341 tgttttcacg tgtgcgtgcc gtttctccaa gcactgcagg ttccaccgtg tgtcagaggc
     2401 tgcaagttta acatcctcct gcctgaaaac aaataggtcc tttgctgaaa agagggtaaa
     2461 aaaagagctt tgatcttctc agccaggaga agagggtggt gttttcacgc gggcaactgc
     2521 tcgccggcct acatggggtt aattcaagtc tgctgcgagc acgactccgc ccttggcact
     2581 ggcctccagc aagccctgtt ctctttgggg tacaggggaa cgggatggtt tagactttcc
     2641 tgctcagtgt gtaaaaaatg tagctaaagc cactattttt gctctcctta agctgttcaa
     2701 taaaccggtt cctcatttta
//
