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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
FAP48 adipocyte expression plays a key role in HIV-associated lipodystrophy.
Title: Role of FAP48 in HIV-associated lipodystrophy.
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.
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.
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.
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.
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

SHGC-75150 (e-PCR)
- UniSTS:38236

RH12743 (e-PCR)
- UniSTS:92813

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

NG_009796.2 RefSeqGene

Range

76857..129442

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

92246402..92370844 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047442822.1 → XP_047298778.1 glomulin isoform X8
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
XM_017000141.2 → XP_016855630.1 glomulin isoform X6
XM_017000140.2 → XP_016855629.1 glomulin isoform X5
XM_017000138.2 → XP_016855627.1 glomulin isoform X2
XM_017000137.2 → XP_016855626.1 glomulin isoform X1
XM_017000139.2 → XP_016855628.1 glomulin isoform X4
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
XM_047442833.1 → XP_047298789.1 glomulin isoform X10

Related

ENSP00000469157.2, ENST00000495852.6

RNA

XR_007068627.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

92091304..92215749 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333980.1 → XP_054189955.1 glomulin isoform X3

UniProtKB/Swiss-Prot

Q5VVC3, Q92990, Q9BVE8
XM_054333985.1 → XP_054189960.1 glomulin isoform X8
XM_054333984.1 → XP_054189959.1 glomulin isoform X7
XM_054333983.1 → XP_054189958.1 glomulin isoform X6
XM_054333978.1 → XP_054189953.1 glomulin isoform X1
XM_054333979.1 → XP_054189954.1 glomulin isoform X2
XM_054333981.1 → XP_054189956.1 glomulin isoform X4
XM_054333982.1 → XP_054189957.1 glomulin isoform X5
XM_054333986.1 → XP_054189961.1 glomulin isoform X9
XM_054333987.1 → XP_054189962.1 glomulin isoform X10

RNA

XR_008485881.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007070.2: Suppressed sequence

Description

NM_007070.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.