LOCUS       NM_053274               2006 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens glomulin, FKBP associated protein (GLMN), transcript
            variant 1, mRNA.
ACCESSION   NM_053274
VERSION     NM_053274.3
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 2006)
  AUTHORS   Jiang,X., Yang,C., Wang,Z., Liang,L., Gong,Z., Huang,S., Xu,Z.,
            Zhang,B., Pei,X., Cai,L., Wang,H. and Lin,Z.
  TITLE     Loss-of-function variants in GLMN are associated with generalized
            skin hyperpigmentation with or without glomuvenous malformation
  JOURNAL   Br J Dermatol 191 (1), 107-116 (2024)
   PUBMED   38489583
  REMARK    GeneRIF: Loss-of-function variants in GLMN are associated with
            generalized skin hyperpigmentation with or without glomuvenous
            malformation.
            Erratum:[Br J Dermatol. 2024 Aug 14;191(3):e6. doi:
            10.1093/bjd/ljae212.. PMID: 38776188]
REFERENCE   2  (bases 1 to 2006)
  AUTHORS   McMahon,M.H., Tahir,N. and Balasubramanian,M.
  TITLE     GLMN causing vascular malformations: the clinical and genetic
            differentiation of cutaneous venous malformations
  JOURNAL   BMJ Case Rep 15 (6), e246114 (2022)
   PUBMED   35732373
  REMARK    GeneRIF: GLMN causing vascular malformations: the clinical and
            genetic differentiation of cutaneous venous malformations.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2006)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2006)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2006)
  AUTHORS   Collantes-Rodriguez,C., De La Varga-Martinez,R., Ossorio-Garcia,L.,
            Villegas-Romero,I., Jimenez-Gallo,D., Mora-Lopez,F. and
            Linares-Barrios,M.
  TITLE     Glomulin mutation and glomuvenous malformations: two case reports
            with the same mutation but different phenotypes
  JOURNAL   Eur J Dermatol 28 (5), 716-718 (2018)
   PUBMED   30325312
  REMARK    GeneRIF: In summary, we present a case of congenital plaquetype GVM
            and a case of familial disseminated cutaneous GVM, both with the
            same glomulin gene mutation (c.157_161delAAGAA), but with different
            clinical expression.
REFERENCE   6  (bases 1 to 2006)
  AUTHORS   Neye,H.
  TITLE     Mutation of FKBP associated protein 48 (FAP48) at proline 219
            disrupts the interaction with FKBP12 and FKBP52
  JOURNAL   Regul Pept 97 (2-3), 147-152 (2001)
   PUBMED   11164950
REFERENCE   7  (bases 1 to 2006)
  AUTHORS   Brouillard,P., Olsen,B.R. and Vikkula,M.
  TITLE     High-resolution physical and transcript map of the locus for venous
            malformations with glomus cells (VMGLOM) on chromosome 1p21-p22
  JOURNAL   Genomics 67 (1), 96-101 (2000)
   PUBMED   10945476
REFERENCE   8  (bases 1 to 2006)
  AUTHORS   Boon,L.M., Brouillard,P., Irrthum,A., Karttunen,L., Warman,M.L.,
            Rudolph,R., Mulliken,J.B., Olsen,B.R. and Vikkula,M.
  TITLE     A gene for inherited cutaneous venous anomalies ('glomangiomas')
            localizes to chromosome 1p21-22
  JOURNAL   Am J Hum Genet 65 (1), 125-133 (1999)
   PUBMED   10364524
REFERENCE   9  (bases 1 to 2006)
  AUTHORS   Chambraud,B., Radanyi,C., Camonis,J.H., Rajkowski,K., Schumacher,M.
            and Baulieu,E.E.
  TITLE     Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal
            enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated
            protein
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 2104-2109 (1999)
   PUBMED   10051602
REFERENCE   10 (bases 1 to 2006)
  AUTHORS   Chambraud,B., Radanyi,C., Camonis,J.H., Shazand,K., Rajkowski,K.
            and Baulieu,E.E.
  TITLE     FAP48, a new protein that forms specific complexes with both
            immunophilins FKBP59 and FKBP12. Prevention by the
            immunosuppressant drugs FK506 and rapamycin
  JOURNAL   J Biol Chem 271 (51), 32923-32929 (1996)
   PUBMED   8955134
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA729622.1, BC001257.1 and
            BG187128.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_053274.2.
            
            Summary: This gene encodes a phosphorylated protein that is a
            member of a Skp1-Cullin-F-box-like complex. The protein is
            essential for normal development of the vasculature and mutations
            in this gene have been associated with glomuvenous malformations,
            also called glomangiomas. Multiple splice variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Feb 2016].
            
            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 :: SRR1660803.95411.1,
                                           SRR1803611.244616.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370360.8/ ENSP00000359385.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                DA729622.1         23-33
            12-1914             BC001257.1         1-1903
            1915-2006           BG187128.1         354-445
FEATURES             Location/Qualifiers
     source          1..2006
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..2006
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /note="glomulin, FKBP associated protein"
                     /db_xref="GeneID:11146"
                     /db_xref="HGNC:HGNC:14373"
                     /db_xref="MIM:601749"
     exon            1..63
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            64..132
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1878
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     FK506-binding protein-associated protein; FKBP-associated
                     protein"
                     /codon_start=1
                     /product="glomulin isoform 1"
                     /protein_id="NP_444504.1"
                     /db_xref="CCDS:CCDS738.1"
                     /db_xref="GeneID:11146"
                     /db_xref="HGNC:HGNC:14373"
                     /db_xref="MIM:601749"
                     /translation="MAVEELQSIIKRCQILEEQDFKEEDFGLFQLAGQRCIEEGHTDQ
                     LLEIIQNEKNKVIIKNMGWNLVGPVVRCLLCKDKEDSKRKVYFLIFDLLVKLCNPKEL
                     LLGLLELIEEPSGKQISQSILLLLQPLQTVIQKLHNKAYSIGLALSTLWNQLSLLPVP
                     YSKEQIQMDDYGLCQCCKALIEFTKPFVEEVIDNKENSLENEKLKDELLKFCFKSLKC
                     PLLTAQFFEQSEEGGNDPFRYFASEIIGFLSAIGHPFPKMIFNHGRKKRTWNYLEFEE
                     EENKQLADSMASLAYLVFVQGIHIDQLPMVLSPLYLLQFNMGHIEVFLQRTEESVISK
                     GLELLENSLLRIEDNSLLYQYLEIKSFLTVPQGLVKVMTLCPIETLRKKSLAMLQLYI
                     NKLDSQGKYTLFRCLLNTSNHSGVEAFIIQNIKNQIDMSLKRTRNNKWFTGPQLISLL
                     DLVLFLPEGAETDLLQNSDRIMASLNLLRYLVIKDNENDNQTGLWTELGNIENNFLKP
                     LHIGLNMSKAHYEAEIKNSQEAQKSKDLCSITVSGEEIPNMPPEMQLKVLHSALFTFD
                     LIESVLARVEELIEIKTKSTSEENIGIK"
     exon            133..258
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            259..378
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            379..487
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            488..725
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            726..828
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1016
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1070
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1101
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1191
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1233
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1307
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1308..1392
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1393..1502
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1566
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1678
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1679..1761
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     exon            1762..2006
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1894..1899
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /note="hexamer: AATAAA"
     polyA_site      1914
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /note="major polyA site"
     regulatory      1983..1988
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
                     /note="hexamer: AATAAA"
     polyA_site      2006
                     /gene="GLMN"
                     /gene_synonym="FAP; FAP48; FAP68; FKBPAP; GLML; GVM;
                     VMGLOM"
ORIGIN      
        1 agaagagcgg gctaagacgc cggaggaggt ggcggcggct gggagaggcg agggttctgg
       61 ccgattttag catcgaaact aggagaaata agaatggctg tagaggaact tcagtctata
      121 ataaagagat gtcaaatcct agaagagcaa gactttaaag aagaggattt tggcctattt
      181 cagttagctg ggcaaagatg catagaagaa gggcacacag accagctatt agaaattatt
      241 caaaatgaaa agaataaggt catcatcaag aatatgggct ggaatctcgt tggtcctgtt
      301 gttcgatgcc ttttgtgtaa agataaagag gatagtaaaa gaaaagttta ttttttgatc
      361 tttgatttat tggtaaagtt atgcaatcca aaggaattat tgttgggttt gcttgaactg
      421 attgaagagc cctctggaaa acagatatcc caaagtattc ttcttttgct tcagccatta
      481 caaacagtga ttcagaaact tcataacaag gcatattcaa ttggattagc attgtctacc
      541 ctttggaatc agctatctct tcttcctgtt ccatactcaa aagaacaaat acaaatggat
      601 gactatggcc tttgtcagtg ttgcaaggcc ttaatagagt tcactaagcc ttttgtggaa
      661 gaagtcattg ataacaaaga aaactcactg gaaaatgaaa agttaaagga tgaattactg
      721 aaattttgtt tcaaaagctt gaaatgccct ttgctgacag cacaattctt tgaacagtct
      781 gaagaaggtg gaaatgatcc tttcaggtat tttgcatcag aaataatagg ttttttatca
      841 gcaattggac accctttccc caaaatgatt tttaatcatg gaaggaaaaa gagaacttgg
      901 aattaccttg aatttgaaga agaagaaaat aaacagttag cagactcaat ggcttctctg
      961 gcatatctag tatttgtaca gggcatccat attgatcagc ttccaatggt cttaagccca
     1021 ttgtaccttt tgcagtttaa tatggggcac attgaagtct ttttgcaaag aacagaagag
     1081 tctgttatct ccaaaggatt ggagctgctg gagaatagtt tattgagaat agaagacaat
     1141 agtctacttt accagtactt agaaatcaag agttttctta ctgtacctca gggcttagtg
     1201 aaagtaatga cactttgccc cattgagaca ctgaggaaaa agagtttagc tatgcttcag
     1261 ctgtatatta acaagttgga ttcacaaggc aaatatacat tatttaggtg cttattgaat
     1321 acaagtaatc actcaggtgt ggaggctttt attattcaaa atatcaaaaa tcaaattgac
     1381 atgtcattaa agagaacacg taacaacaaa tggtttacag gaccacagtt gatttccctt
     1441 cttgatttgg tactttttct cccagagggt gcagaaacag atttactgca aaactcagat
     1501 aggattatgg cttcattaaa tttattgagg tatttggtta tcaaagataa tgaaaatgac
     1561 aatcaaactg gattatggac agaacttgga aatattgaga ataatttctt aaagccactt
     1621 catataggac ttaatatgtc aaaagcacat tatgaagcag aaattaaaaa tagccaagag
     1681 gcccagaaat ctaaagatct ttgttctata actgtaagtg gagaagagat ccctaatatg
     1741 cctcctgaaa tgcagcttaa ggtcctgcat tcagctcttt tcacatttga tttgattgaa
     1801 agtgttctag ctcgagtgga agaactcatt gaaataaaaa caaagtctac ctctgaagaa
     1861 aatattggga taaagtgaaa gttccatttc ctaaataaaa actaataaaa tatagtactt
     1921 tccattatga ttcatttaat acctttataa aaaatttttc tgtaaaaatt tactgcttga
     1981 aaaataaatg tagcttttct cattta
//
