LOCUS       NM_001105247            3108 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens armadillo repeat containing 5 (ARMC5), transcript
            variant 1, mRNA.
ACCESSION   NM_001105247
VERSION     NM_001105247.2
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 3108)
  AUTHORS   Salame,A.A.M., Charchar,H.L.S., de Oliveira Dourado,J.P.,
            Mendonca,B., Alencar,G.A., de Araujo,L.J.T., Arantes,P.R.,
            Rabelo,N.N., Figueiredo,E.G. and Fragoso,M.C.B.V.
  TITLE     Neuroradiological features of patients with bilateral macronodular
            adrenocortical disease and meningiomas associated or not with
            genetic variants of ARMC5- a case series
  JOURNAL   J Neurooncol 168 (3), 405-413 (2024)
   PUBMED   38630387
  REMARK    GeneRIF: Neuroradiological features of patients with bilateral
            macronodular adrenocortical disease and meningiomas associated or
            not with genetic variants of ARMC5- a case series.
REFERENCE   2  (bases 1 to 3108)
  AUTHORS   Pinar-Gutierrez,A., Mangas-Cruz,M.A., de Lara-Rodriguez,I.,
            Remon-Ruiz,P., Del Can-Sanchez,D., Tous Castillo,M. and
            Pumar-Lopez,A.
  TITLE     Familial bilateral macronodular adrenal hyperplasia due to a novel
            ARMC 5 germline mutation: Clinical status and possible association
            with other neoplasms
  JOURNAL   Endocrinol Diabetes Nutr (Engl Ed) 71 (3), 119-123 (2024)
   PUBMED   38555108
  REMARK    GeneRIF: Familial bilateral macronodular adrenal hyperplasia due to
            a novel ARMC 5 germline mutation: Clinical status and possible
            association with other neoplasms.
REFERENCE   3  (bases 1 to 3108)
  AUTHORS   Luo,H., Lao,L., Au,K.S., Northrup,H., He,X., Forget,D.,
            Gauthier,M.S., Coulombe,B., Bourdeau,I., Shi,W., Gagliardi,L.,
            Fragoso,M.C.B.V., Peng,J. and Wu,J.
  TITLE     ARMC5 controls the degradation of most Pol II subunits, and ARMC5
            mutation increases neural tube defect risks in mice and humans
  JOURNAL   Genome Biol 25 (1), 19 (2024)
   PUBMED   38225631
  REMARK    GeneRIF: ARMC5 controls the degradation of most Pol II subunits,
            and ARMC5 mutation increases neural tube defect risks in mice and
            humans.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3108)
  AUTHORS   Morelli,V., Elli,F.M., Frigerio,S., Vena,W., Palmieri,S., Lucca,C.,
            Maffini,M.A., Contarino,A., Bagnaresi,F., Mantovani,G. and
            Arosio,M.
  TITLE     Prevalence and clinical features of armadillo repeat-containing 5
            mutations carriers in a single center cohort of patients with
            bilateral adrenal incidentalomas
  JOURNAL   Eur J Endocrinol 189 (2), 242-251 (2023)
   PUBMED   37625448
  REMARK    GeneRIF: Prevalence and clinical features of armadillo
            repeat-containing 5 mutations carriers in a single center cohort of
            patients with bilateral adrenal incidentalomas.
REFERENCE   5  (bases 1 to 3108)
  AUTHORS   de Arruda Botelho,M.L.A., Nishi,M.Y., Ribeiro,K.B. and
            Zerbini,M.C.N.
  TITLE     Morphological Harbingers of ARMC5-Pathogenic Variant-Related
            Bilateral Macronodular Adrenocortical Disease
  JOURNAL   Endocr Pathol 34 (2), 200-212 (2023)
   PUBMED   37043100
  REMARK    GeneRIF: Morphological Harbingers of ARMC5-Pathogenic
            Variant-Related Bilateral Macronodular Adrenocortical Disease.
REFERENCE   6  (bases 1 to 3108)
  AUTHORS   Alencar,G.A., Lerario,A.M., Nishi,M.Y., Mariani,B.M., Almeida,M.Q.,
            Tremblay,J., Hamet,P., Bourdeau,I., Zerbini,M.C., Pereira,M.A.,
            Gomes,G.C., Rocha Mde,S., Chambo,J.L., Lacroix,A., Mendonca,B.B.
            and Fragoso,M.C.
  TITLE     ARMC5 mutations are a frequent cause of primary macronodular
            adrenal Hyperplasia
  JOURNAL   J Clin Endocrinol Metab 99 (8), E1501-E1509 (2014)
   PUBMED   24708098
  REMARK    GeneRIF: Inherited autosomal dominant mutations in the ARMC5 gene
            are a frequent cause of primary macronodular adrenal hyperplasia.
            Biallelic inactivation of ARMC5 is consistent with its role as a
            potential tumor suppressor gene.
REFERENCE   7  (bases 1 to 3108)
  AUTHORS   De Venanzi,A., Alencar,G.A., Bourdeau,I., Fragoso,M.C. and
            Lacroix,A.
  TITLE     Primary bilateral macronodular adrenal hyperplasia
  JOURNAL   Curr Opin Endocrinol Diabetes Obes 21 (3), 177-184 (2014)
   PUBMED   24739311
  REMARK    Review article
REFERENCE   8  (bases 1 to 3108)
  AUTHORS   Faucz,F.R., Zilbermint,M., Lodish,M.B., Szarek,E., Trivellin,G.,
            Sinaii,N., Berthon,A., Libe,R., Assie,G., Espiard,S., Drougat,L.,
            Ragazzon,B., Bertherat,J. and Stratakis,C.A.
  TITLE     Macronodular adrenal hyperplasia due to mutations in an armadillo
            repeat containing 5 (ARMC5) gene: a clinical and genetic
            investigation
  JOURNAL   J Clin Endocrinol Metab 99 (6), E1113-E1119 (2014)
   PUBMED   24601692
  REMARK    GeneRIF: ARMC5 mutations are implicated in clinically severe
            Cushing's syndrome associated with Macronodular adrenal
            hyperplasia.
REFERENCE   9  (bases 1 to 3108)
  AUTHORS   Assie,G., Libe,R., Espiard,S., Rizk-Rabin,M., Guimier,A.,
            Luscap,W., Barreau,O., Lefevre,L., Sibony,M., Guignat,L.,
            Rodriguez,S., Perlemoine,K., Rene-Corail,F., Letourneur,F.,
            Trabulsi,B., Poussier,A., Chabbert-Buffet,N., Borson-Chazot,F.,
            Groussin,L., Bertagna,X., Stratakis,C.A., Ragazzon,B. and
            Bertherat,J.
  TITLE     ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's
            syndrome
  JOURNAL   N Engl J Med 369 (22), 2105-2114 (2013)
   PUBMED   24283224
  REMARK    GeneRIF: Some cases of corticotropin-independent macronodular
            adrenal hyperplasia appear to be genetic, most often with
            inactivating mutations of ARMC5.
REFERENCE   10 (bases 1 to 3108)
  AUTHORS   Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and
            Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026471.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 1, 2019 this sequence version replaced NM_001105247.1.
            
            Summary: This gene encodes a member of the ARM
            (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is
            a tandemly repeated sequence motif with approximately 40 amino acid
            long. This repeat is implicated in mediating protein-protein
            interactions. The encoded protein contains seven ARM repeats.
            Mutations in this gene are associated with primary bilateral
            macronodular adrenal hyperplasia, which is also known as
            ACTH-independent macronodular adrenal hyperplasia 2. Alternatively
            spliced transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Sep 2014].
            
            Transcript Variant: This variant (1) has an alternate 5' UTR and
            initiates translation at a downstream AUG codon, compared to
            variant 3. The resulting isoform (a) has a shorter N-terminus,
            compared to isoform c.
            
            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 :: SRR14038197.1916922.1,
                                           SRR14038196.1502418.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268314.9/ ENSP00000268314.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-499               AC026471.6         129131-129629
            500-607             AC026471.6         131552-131659
            608-1394            AC026471.6         131761-132547
            1395-1888           AC026471.6         134024-134517
            1889-2021           AC026471.6         135480-135612
            2022-3108           AC026471.6         135709-136795
FEATURES             Location/Qualifiers
     source          1..3108
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..3108
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /note="armadillo repeat containing 5"
                     /db_xref="GeneID:79798"
                     /db_xref="HGNC:HGNC:25781"
                     /db_xref="MIM:615549"
     exon            1..499
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             25..2832
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /note="isoform a is encoded by transcript variant 1;
                     armadillo repeat-containing protein 5"
                     /codon_start=1
                     /product="armadillo repeat-containing protein 5 isoform a"
                     /protein_id="NP_001098717.1"
                     /db_xref="CCDS:CCDS45472.1"
                     /db_xref="GeneID:79798"
                     /db_xref="HGNC:HGNC:25781"
                     /db_xref="MIM:615549"
                     /translation="MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRAL
                     LALRTRHIKAAGGIERFRARGGLRPLLALLRRAAAAGSAPSQAGPGSAPSSAASGASS
                     PAPASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCCTEGACRTEVRRLGGILPLVT
                     ILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDSQCLQSVVR
                     ALRNLADSPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQ
                     LSLGGGLGPLVSLASHPKRAVREGTILILANLCAQGLIRPALGNAGGVEVLVDELRQR
                     RDPNGASPTSQQPLVRAVCLLCREAINRARLRDAGGLDLLMGLLRDPRASAWHPRIVA
                     ALVGFLYDTGALGRLQALGLVPLLAGQLCGEAGEEEEEGREAASWDFPEERTPERAQG
                     GSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPASPAPTPTSLRAPRTQRTPG
                     RSPAAAIEEPWGREGPALLLLSRFSQAPDPSGALVTGPALYGLLTYVTGAPGPPSPRA
                     LRILSRLTCNPACLEAFVRSYGAALLRAWLVLGVAPDDWPAPRARPTLHSRHRELGER
                     LLQNLTVQAESPFGVGALTHLLLSGSPEDRVACALTLPFICRKPSLWRRLLLEQGGLR
                     LLLAALTRPAPHPLFLFFAADSLSCLQDLVSPTVSPAVPQAVPMDLDSPSPCLYEPLL
                     GPAPVPAPDLHFLLDSGLQLPAQRAASATASPFFRALLSGSFAEAQMDLVPLRGLSPG
                     AAWPVLHHLHGCRGCGAALGPVPPPGQPLLGSEAEEALEAAGRFLLPGLEEELEEAVG
                     RIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGLALVGLVEAAGEEAG
                     PLTEALLAVVMGIELGARVPA"
     exon            500..607
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     exon            608..1394
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1888
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1889..2021
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     exon            2022..3108
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3088..3093
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /note="hexamer: ATTAAA"
     polyA_site      3108
                     /gene="ARMC5"
                     /gene_synonym="AIMAH2"
                     /note="major polyA site"
ORIGIN      
        1 gcggagtctg aggcccgagc caagatggcg gctgcgaagc caaccctcac ggactcgctc
       61 tcgttctgcc tcgcgcagct cgcggcggcg gccggggagg ctctgggtgg ggaaaaggac
      121 ccagcgacca acgagacacc cctgagccgc gcgctcctag ccctccgcac gcgccacatc
      181 aaggcagcgg ggggaatcga gcgcttccgg gcacgcggcg ggctccgccc cctactcgcg
      241 ctgctacggc gagcggctgc agcgggttcc gccccgtccc aggcaggccc cggctccgcc
      301 ccctcgtcgg ccgcgtcggg agcttctagc cccgcccccg cgtcgggccc cgccccctcc
      361 gctgtgtcgt cgtctagtcc tacgccgcca gtgcgcctgc gcaagacgct ggacttggcg
      421 ctcagcatcc tagccgattg ctgtacggaa ggggcgtgcc ggaccgaagt gcgcagactc
      481 ggaggcatac tccctttggt gaccattctt cagtgcatga agacagacag catccagaac
      541 cgaacggccc gtgccctggg gaacttagcc atggaacctg agagctgtgg ggacatccac
      601 tgtgctggtg ctgttcccct gcttgtggag agcctgacag cctgccagga ctcgcagtgc
      661 ctacagagcg tggtgcgtgc cctccgtaac ctggcagact caccccagca ccgcctggcc
      721 ttggcacagc agggagcagt gcgtccgctg gccgagctcc tggccactgc cccagatgct
      781 gcactgacct tagccctcgt ccgtgccctc ctggaactca gccgaggctg ctcccgggcc
      841 tgtgctgagc agctaagtct gggtggggga ttgggcccac tcgtcagcct ggcttcccac
      901 cccaagcggg cagtacgcga gggaaccatt ctgatcctcg ccaacctgtg tgcccagggc
      961 ctgattcggc ctgcactggg caatgctggt ggcgtggagg tgctggtaga tgagctccgg
     1021 cagcgccggg atcctaatgg agctagccca acctcccagc agcccctggt gcgggctgtg
     1081 tgcctcctat gtcgtgaggc catcaaccgg gcccgactgc gggatgctgg tggcttggat
     1141 ctactgatgg gcctgctgcg ggaccctcgt gcaagcgcat ggcaccctcg tattgtggct
     1201 gcccttgtgg ggtttctgta tgacactggg gccctgggcc ggctgcaggc tctgggactt
     1261 gtgcctctcc tggctgggca gctgtgtggt gaggctggtg aggaggaaga agagggaaga
     1321 gaagctgctt cctgggactt tcctgaggag aggacccctg agcgggcaca gggtggaagc
     1381 ttccggagcc tcaggtcgtg gctgatctcc gagggctatg ccacaggccc tgatgacatc
     1441 tcccccgact ggtctcctga gcagtgtccg ccggagccca tggagccggc cagccccgcc
     1501 ccgaccccga cctcgctgcg ggcaccacgc acccaacgca ctccgggccg cagccccgcc
     1561 gccgccatcg aggagccttg gggacgcgaa gggccagccc tgctgctgct gtcgcgcttt
     1621 tcccaggccc ctgacccaag tggggcactt gtgaccggcc cggcgctgta cggcctgctg
     1681 acctatgtga ccggcgcacc gggcccgccc agcccacgtg cactgcgcat tctgtcacgc
     1741 ctcacctgca accctgcctg cctcgaggcc ttcgtgcgca gctatggcgc ggcgctgctg
     1801 cgggcctggc tggtgctggg ggtggcgcct gacgattggc cggcaccacg tgcccggccc
     1861 actctccaca gccggcaccg agagctgggg gagaggctac tgcagaacct gacggttcag
     1921 gctgagtcgc cctttggggt tggggccctg acgcacctgc tgctctctgg gagccctgag
     1981 gaccgagtgg cctgcgcgct gaccctgccc ttcatctgcc ggaagccctc tctgtggcgc
     2041 cggctgcttc tggagcaggg tggtctccgg ctcctccttg cggcgctgac ccggccggcc
     2101 ccacacccgc tcttcctctt ctttgccgcg gactcccttt cctgcctcca agacctggtg
     2161 tctcccactg tgagcccagc tgtcccacag gcagtcccca tggacctaga ctcaccttcc
     2221 ccttgcctct atgaacctct gctgggccca gcccctgtcc cagctcccga cctgcacttc
     2281 ctgctggact caggcctcca gctccctgcc cagcgagcgg cctcagccac cgcctcccct
     2341 ttcttccggg ccctgctgtc aggcagcttt gcagaagccc agatggacct ggtgcccctg
     2401 cgaggtctgt cgcctggtgc agcctggcct gtcctgcatc atttgcatgg ttgtcggggg
     2461 tgtggggctg ccctggggcc cgtgccccca ccaggccagc ccctgctggg ttcagaggcc
     2521 gaggaggcac tggaggctgc tggccgtttc ctactgcctg ggctggagga ggagctggaa
     2581 gaggccgtgg gccgcatcca cctgggaccc cagggtggcc cggagtcagt gggtgaggtg
     2641 ttccgcctgg gccggccccg gctggctgcc cactgtgccc gctggacact ggggtcagag
     2701 cagtgcccga ggaagcgggg tctggccctg gtggggcttg tggaggcagc aggtgaagag
     2761 gcagggcccc tgacggaggc tttgctggct gtggtgatgg ggattgagtt gggggcaagg
     2821 gtccctgcct agactgttga cgtcccctgg gaaggggacc caaggatgaa ttggctgtga
     2881 aggatcctcc ctgagactgg caagggagga ggctgagcag aaggagtcat catggaggag
     2941 cggtgagaac atggaaccgg actccaagat gacgatctaa agacccggga gcgagaagcc
     3001 aaggccaggt tctgggtgta gggcccagag aagcagaaca gcccagagcc ccaggtgcct
     3061 ggcctggcct agacctctgg aattgagatt aaacaatttg gagttgga
//
