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

Gene ID: 11146, updated on 3-Apr-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
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Genomic context

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Location:
1p22.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (92246402..92370844, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (92091304..92215749, complement)
105.20220307 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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. 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,
  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. A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations. Borroni RG, et al. Exp Dermatol, 2011 Dec. PMID 22092580

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy.
    Title: Role of FAP48 in HIV-associated lipodystrophy.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Describes the characterizations of 14 different mutations in the glomulin gene in patients with glomuvenous malformations.
    Title: Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Submit: New GeneRIF Correction

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
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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)

Genotypes

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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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_2023_10

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

    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

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

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