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    GLMN glomulin, FKBP associated protein [ Homo sapiens (human) ]

    Gene ID: 11146, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GLMNprovided by HGNC
    Official Full Name
    glomulin, FKBP associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:14373
    See related
    Ensembl:ENSG00000174842 MIM:601749; AllianceGenome:HGNC:14373
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM
    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]
    Expression
    Ubiquitous expression in testis (RPKM 3.2), brain (RPKM 2.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GLMN in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92246402..92370844, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92091304..92215749, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92711959..92764544, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 510 pseudogene Neighboring gene chromosome 1 open reading frame 146 Neighboring gene ACTB pseudogene 12 Neighboring gene MPRA-validated peak316 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:92763642-92764538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1312 Neighboring gene Sharpr-MPRA regulatory region 6980 Neighboring gene RNA polymerase II associated protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1313 Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:92948665-92949264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92949865-92950465 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:92951066-92951666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1075 Neighboring gene growth factor independent 1 transcriptional repressor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. Jiang X, et al. Br J Dermatol, 2024 Jun 20. PMID 38489583
    2. Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes. Collantes-Rodríguez C, et al. Eur J Dermatol, 2018 Oct 1. PMID 30325312
    3. Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations. Borroni RG, et al. Int J Dermatol, 2014 Nov. PMID 24961656
    4. Glomulin: a permissivity factor for vaccinia virus infection. Rahbar R, et al. J Interferon Cytokine Res, 2012 Mar. PMID 22280104
    5. GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. McMahon MH, et al. BMJ Case Rep, 2022 Jun 22. PMID 35732373, Free PMC Article

    See all (73) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
      Title: Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation.
    2. GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations.
      Title: GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations.
    3. 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.
      Title: Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes.
    4. Our report contributes to document the possible association between the c.395-1G>C mutation of GLMN gene and glomuvenous malformations.
      Title: Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
    5. FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy.
      Title: Role of FAP48 in HIV-associated lipodystrophy.
    6. Structural and biochemical analyses reveal that GLMN adopts a HEAT-like repeat fold that tightly binds the E2-interacting surface of RBX1, inhibiting CRL-mediated chain formation by the E2 CDC34.
      Title: Structure of a glomulin-RBX1-CUL1 complex: inhibition of a RING E3 ligase through masking of its E2-binding surface.
    7. These data identify glomulin as a permissivity factor for VACV infection and as a potential therapeutic target for inhibition of vaccinia virus (VACV) infection.
      Title: Glomulin: a permissivity factor for vaccinia virus infection.
    8. The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin-1 RING ligase-mediated turnover of Fbw7.
      Title: The glomuvenous malformation protein Glomulin binds Rbx1 and regulates cullin RING ligase-mediated turnover of Fbw7.
    9. A novel GLMN mutation is described in an Italian family with glomuvenous malformations in which some members present with the less commonly observed phenotype of solitary lesions.
      Title: A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
    10. FAP48-FKBP complexes increase IL2 production
      Title: The FKBP-associated protein FAP48 is an antiproliferative molecule and a player in T cell activation that increases IL2 synthesis.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Glomuvenous malformation
    MedGen: C1841984 OMIM: 138000 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-07-18)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-07-18)

    ClinGen Genome Curation PagePubMed

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hepatocyte growth factor receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables hepatocyte growth factor receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-protein transferase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin-protein transferase inhibitor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in epigenetic regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of T cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of interleukin-2 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-2 production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of Cul3-RING ubiquitin ligase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of Cul4A-RING E3 ubiquitin ligase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of cullin-RING ubiquitin ligase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    glomulin
    Names
    FK506-binding protein-associated protein
    FKBP-associated protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009796.2 RefSeqGene

      Range
      76857..129442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001319683.2 → NP_001306612.1  glomulin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK295971, BC001257, BG187128
      UniProtKB/TrEMBL
      B4DJ85
      Conserved Domains (1) summary
      pfam08568
      Location:1 → 515
      Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin

    2. NM_053274.3 → NP_444504.1  glomulin isoform 1

      See identical proteins and their annotated locations for NP_444504.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC001257, BG187128, DA729622
      Consensus CDS
      CCDS738.1
      UniProtKB/Swiss-Prot
      Q5VVC3, Q92990, Q9BVE8
      Related
      ENSP00000359385.3, ENST00000370360.8
      Conserved Domains (1) summary
      pfam08568
      Location:1 → 529
      Kinetochor_Ybp2; Uncharacterized protein family, YAP/Alf4/glomulin

    RNA

    1. NR_135089.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BG187128, U73704
      Related
      ENST00000495106.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      92246402..92370844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540546.3 → XP_011538848.1  glomulin isoform X3

      See identical proteins and their annotated locations for XP_011538848.1

      UniProtKB/Swiss-Prot
      Q5VVC3, Q92990, Q9BVE8
      Conserved Domains (1) summary
      pfam08568
      Location:1 → 529
      Kinetochor_Ybp2; Uncharacterized protein family, YAP/Alf4/glomulin

    2. XM_047442822.1 → XP_047298778.1  glomulin isoform X8

    3. XM_005270401.4 → XP_005270458.1  glomulin isoform X7

      Conserved Domains (1) summary
      pfam08568
      Location:14 → 487
      Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin

    4. XM_017000141.2 → XP_016855630.1  glomulin isoform X6

    5. XM_017000140.2 → XP_016855629.1  glomulin isoform X5

    6. XM_017000138.2 → XP_016855627.1  glomulin isoform X2

    7. XM_017000137.2 → XP_016855626.1  glomulin isoform X1

    8. XM_017000139.2 → XP_016855628.1  glomulin isoform X4

    9. XM_006710309.3 → XP_006710372.1  glomulin isoform X9

      Conserved Domains (1) summary
      pfam08568
      Location:11 → 362
      Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin

    10. XM_047442833.1 → XP_047298789.1  glomulin isoform X10

      UniProtKB/TrEMBL
      M0QXG8
      Related
      ENSP00000469157.2, ENST00000495852.6

    RNA

    1. XR_007068627.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      92091304..92215749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333980.1 → XP_054189955.1  glomulin isoform X3

      UniProtKB/Swiss-Prot
      Q5VVC3, Q92990, Q9BVE8

    2. XM_054333985.1 → XP_054189960.1  glomulin isoform X8

    3. XM_054333984.1 → XP_054189959.1  glomulin isoform X7

    4. XM_054333983.1 → XP_054189958.1  glomulin isoform X6

    5. XM_054333978.1 → XP_054189953.1  glomulin isoform X1

    6. XM_054333979.1 → XP_054189954.1  glomulin isoform X2

    7. XM_054333981.1 → XP_054189956.1  glomulin isoform X4

    8. XM_054333982.1 → XP_054189957.1  glomulin isoform X5

    9. XM_054333986.1 → XP_054189961.1  glomulin isoform X9

    10. XM_054333987.1 → XP_054189962.1  glomulin isoform X10

      UniProtKB/TrEMBL
      M0QXG8

    RNA

    1. XR_008485881.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_007070.2: Suppressed sequence

      Description
      NM_007070.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92990.2 GenPept UniProtKB/Swiss-Prot:Q92990

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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