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

Gene ID: 11146, updated on 11-Sep-2019

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
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

Genomic context

See GLMN in Genome Data Viewer
Location:
1p22.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (92245786..92441936, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (92711955..92764566, 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 RNA polymerase II associated protein 2 Neighboring gene RNA, 7SL, cytoplasmic 824, pseudogene Neighboring gene growth factor independent 1 transcriptional repressor Neighboring gene ecotropic viral integration site 5 Neighboring gene succinate dehydrogenase assembly factor 3, mitochondrial pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glomuvenous malformations
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hepatocyte growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase inhibitor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
Cul2-RING ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
Cul3-RING ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
Cul4A-RING E3 ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
cullin-RING ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_009796.1 RefSeqGene

    Range
    5023..57608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319683.1NP_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, DA729622
    UniProtKB/Swiss-Prot
    Q92990
    UniProtKB/TrEMBL
    B4DJ85
    Conserved Domains (1) summary
    pfam08568
    Location:1515
    Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin
  2. NM_053274.3NP_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
    Q92990
    Related
    ENSP00000359385.3, ENST00000370360.8
    Conserved Domains (1) summary
    pfam08568
    Location:1529
    Kinetochor_Ybp2; Uncharacterized protein family, YAP/Alf4/glomulin

RNA

  1. NR_135089.1 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, DA729622, U73704
    Related
    ENST00000495106.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    92245786..92441936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540546.2XP_011538848.1  glomulin isoform X3

    See identical proteins and their annotated locations for XP_011538848.1

    UniProtKB/Swiss-Prot
    Q92990
    Conserved Domains (1) summary
    pfam08568
    Location:1529
    Kinetochor_Ybp2; Uncharacterized protein family, YAP/Alf4/glomulin
  2. XM_017000141.1XP_016855630.1  glomulin isoform X6

  3. XM_005270401.3XP_005270458.1  glomulin isoform X7

    Conserved Domains (1) summary
    pfam08568
    Location:14487
    Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin
  4. XM_017000142.1XP_016855631.1  glomulin isoform X9

  5. XM_006710309.2XP_006710372.1  glomulin isoform X8

    Conserved Domains (1) summary
    pfam08568
    Location:11362
    Kinetochor_Ybp2; uncharacterized protein family, YAP/Alf4/glomulin
  6. XM_017000144.1XP_016855633.1  glomulin isoform X10

    Related
    ENSP00000469157.2, ENST00000495852.6
  7. XM_017000138.1XP_016855627.1  glomulin isoform X2

  8. XM_017000137.1XP_016855626.1  glomulin isoform X1

  9. XM_017000139.1XP_016855628.1  glomulin isoform X4

  10. XM_017000143.1XP_016855632.1  glomulin isoform X9

  11. XM_017000140.1XP_016855629.1  glomulin isoform X5

RNA

  1. XR_002959249.1 RNA Sequence

  2. XR_002959248.1 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.
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