This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss... See more...

Aliases for UBAP1 Gene

Aliases for UBAP1 Gene

  • Ubiquitin Associated Protein 1 2 3 5
  • Nasopharyngeal Carcinoma-Associated Gene 20 Protein 3 4
  • Ubiquitin-Associated Protein 1 3 4
  • UBAP-1 3 4
  • Ubiquitin Associated Protein 2
  • NAG20 3
  • SPG80 3
  • UBAP 3
  • UAP 3

External Ids for UBAP1 Gene

Previous HGNC Symbols for UBAP1 Gene

  • UBAP

Previous GeneCards Identifiers for UBAP1 Gene

  • GC09P034491
  • GC09P034348
  • GC09P034169
  • GC09P034026
  • GC09P034135

Summaries for UBAP1 Gene

Entrez Gene Summary for UBAP1 Gene

  • This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

GeneCards Summary for UBAP1 Gene

UBAP1 (Ubiquitin Associated Protein 1) is a Protein Coding gene. Diseases associated with UBAP1 include Spastic Paraplegia 80, Autosomal Dominant and Intermediate Coronary Syndrome. Gene Ontology (GO) annotations related to this gene include ubiquitin binding. An important paralog of this gene is UBAP1L.

UniProtKB/Swiss-Prot Summary for UBAP1 Gene

  • Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2.

Gene Wiki entry for UBAP1 Gene

Additional gene information for UBAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBAP1 Gene

Genomics for UBAP1 Gene

GeneHancer (GH) Regulatory Elements for UBAP1 Gene

Promoters and enhancers for UBAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBAP1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • GATA-3
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for UBAP1 Gene

Genomic Locations for UBAP1 Gene
chr9:34,179,005-34,252,523
(GRCh38/hg38)
Size:
73,519 bases
Orientation:
Plus strand
chr9:34,179,003-34,252,521
(GRCh37/hg19)
Size:
73,519 bases
Orientation:
Plus strand

Genomic View for UBAP1 Gene

Genes around UBAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBAP1 Gene

Proteins for UBAP1 Gene

  • Protein details for UBAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ09-UBAP1_HUMAN
    Recommended name:
    Ubiquitin-associated protein 1
    Protein Accession:
    Q9NZ09
    Secondary Accessions:
    • B7Z348
    • B7Z8N9
    • D3DRL7
    • F5GXE2
    • F5H0J8
    • Q4V759
    • Q53FP7
    • Q5T7B3
    • Q6FI75
    • Q8NC52
    • Q8NCG6
    • Q8NCH9

    Protein attributes for UBAP1 Gene

    Size:
    502 amino acids
    Molecular mass:
    55084 Da
    Quaternary structure:
    • Component of an ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, VPS37A and UBAP1 in a 1:1:1:1 stoichiometry. Can be a component of ESCRT-I complexes containing VPS37B, VPS37C and VPS37D (in vitro) (PubMed:22405001), but may have a preference for the ESCRT-I complex containing VPS37A (PubMed:21757351). Interacts with PTPN23. Interacts (via UBA domains) with ubiquitinated proteins.
    SequenceCaution:
    • Sequence=BAC11162.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH12084.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBAP1 Gene

    Alternative splice isoforms for UBAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBAP1 Gene

Post-translational modifications for UBAP1 Gene

  • Ubiquitination at Lys251 and Lys264
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBAP1 Gene

Domains & Families for UBAP1 Gene

Gene Families for UBAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBAP1 Gene

Suggested Antigen Peptide Sequences for UBAP1 Gene

GenScript: Design optimal peptide antigens:
  • NAG20 (Q9HD88_HUMAN)
  • Nasopharyngeal carcinoma-associated gene 20 protein (UBAP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZ09

UniProtKB/Swiss-Prot:

UBAP1_HUMAN :
  • The UMA domain mediates association with the ESCRT-I complex.
Domain:
  • The UMA domain mediates association with the ESCRT-I complex.
genes like me logo Genes that share domains with UBAP1: view

Function for UBAP1 Gene

Molecular function for UBAP1 Gene

UniProtKB/Swiss-Prot Function:
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Plays a role in the proteasomal degradation of ubiquitinated cell-surface proteins, such as EGFR and BST2.

Phenotypes From GWAS Catalog for UBAP1 Gene

Gene Ontology (GO) - Molecular Function for UBAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0043130 ubiquitin binding IDA 21757351
genes like me logo Genes that share ontologies with UBAP1: view
genes like me logo Genes that share phenotypes with UBAP1: view

Animal Models for UBAP1 Gene

MGI Knock Outs for UBAP1:
  • Ubap1 Ubap1<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for UBAP1 Gene

miRTarBase miRNAs that target UBAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBAP1 Gene

Localization for UBAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBAP1 Gene

Cytoplasm, cytosol. Endosome. Note=Predominantly cytosolic. Recruited to endosomes as part of the ESCRT-I complex.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBAP1 gene
Compartment Confidence
endosome 5
cytosol 5
plasma membrane 4
golgi apparatus 4
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000813 ESCRT I complex IDA 21757351
GO:0005737 cytoplasm IDA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA,IEA 21757351
genes like me logo Genes that share ontologies with UBAP1: view

Pathways & Interactions for UBAP1 Gene

PathCards logo

SuperPathways for UBAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UBAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016197 endosomal transport TAS --
GO:0019058 viral life cycle TAS --
GO:0043162 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IMP 21757351
GO:0075733 intracellular transport of virus TAS --
genes like me logo Genes that share ontologies with UBAP1: view

No data available for Pathways by source and SIGNOR curated interactions for UBAP1 Gene

Drugs & Compounds for UBAP1 Gene

No Compound Related Data Available

Transcripts for UBAP1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBAP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBAP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7 ^ 8 ^ 9
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6: - - - - -
SP7:

Relevant External Links for UBAP1 Gene

GeneLoc Exon Structure for
UBAP1
ECgene alternative splicing isoforms for
UBAP1

Expression for UBAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBAP1 Gene

mRNA differential expression in normal tissues according to GTEx for UBAP1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for UBAP1 Gene

This gene is overexpressed in Bone (50.0) and Cervix (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBAP1 Gene



Protein tissue co-expression partners for UBAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of UBAP1 Gene:

UBAP1

SOURCE GeneReport for Unigene cluster for UBAP1 Gene:

Hs.268963

mRNA Expression by UniProt/SwissProt for UBAP1 Gene:

Q9NZ09-UBAP1_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for UBAP1 Gene

  • Nervous system(4.9)
  • Kidney(4.6)
  • Intestine(4.5)
  • Liver(4.3)
  • Stomach(4.2)
  • Lung(3.1)
  • Skin(2.4)
  • Heart(2.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with UBAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBAP1 Gene

Orthologs for UBAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UBAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBAP1 33 32
  • 99.73 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBAP1 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBAP1 33 32
  • 94.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBAP1 33 32
  • 92.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ubap1 17 33 32
  • 91.24 (n)
rat
(Rattus norvegicus)
Mammalia Ubap1 32
  • 91.17 (n)
oppossum
(Monodelphis domestica)
Mammalia UBAP1 33
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBAP1 33 32
  • 74.6 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBAP1 33
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubap1 32
  • 64.89 (n)
Str.19563 32
zebrafish
(Danio rerio)
Actinopterygii ubap1 33 32
  • 60.51 (n)
OneToOne
zgc56228 32
Species where no ortholog for UBAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UBAP1 Gene

ENSEMBL:
Gene Tree for UBAP1 (if available)
TreeFam:
Gene Tree for UBAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBAP1: view image

Paralogs for UBAP1 Gene

Paralogs for UBAP1 Gene

genes like me logo Genes that share paralogs with UBAP1: view

Variants for UBAP1 Gene

Sequence variations from dbSNP and Humsavar for UBAP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1563919973 pathogenic, SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 34,241,311(+) CCAGA/CCAGACCAGA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1563920000 pathogenic, SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 34,241,320(+) G/GG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1563920132 pathogenic, SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 34,241,385(+) CC/CCC coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1563920172 pathogenic, SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 34,241,398(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1563920252 pathogenic, SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT 34,241,450(+) AGA/A coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for UBAP1 Gene

Variant ID Type Subtype PubMed ID
esv2673377 CNV deletion 23128226
esv2738386 CNV deletion 23290073
esv3544797 CNV deletion 23714750
esv3620335 CNV gain 21293372
esv3620351 CNV loss 21293372
esv3620352 CNV loss 21293372
esv3620353 CNV loss 21293372
nsv1030732 CNV gain 25217958
nsv1075201 CNV deletion 25765185
nsv1125318 OTHER inversion 24896259
nsv1126871 CNV deletion 24896259
nsv509300 CNV insertion 20534489
nsv824911 CNV loss 20364138
nsv972662 CNV duplication 23825009

Variation tolerance for UBAP1 Gene

Residual Variation Intolerance Score: 18.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBAP1 Gene

Human Gene Mutation Database (HGMD)
UBAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBAP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBAP1 Gene

Disorders for UBAP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UBAP1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search UBAP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBAP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UBAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBAP1 Gene

Publications for UBAP1 Gene

  1. UBAP1 is a component of an endosome-specific ESCRT-I complex that is essential for MVB sorting. (PMID: 21757351) Stefani F … Woodman P (Current biology : CB 2011) 2 3 4 56
  2. The UBAP1 subunit of ESCRT-I interacts with ubiquitin via a SOUBA domain. (PMID: 22405001) Agromayor M … Williams RL (Structure (London, England : 1993) 2012) 3 4 56
  3. Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration? (PMID: 20670673) Venturelli E … Galimberti D (Neuroscience letters 2010) 3 43 56
  4. Ubiquitin associated protein 1 is a risk factor for frontotemporal lobar degeneration. (PMID: 19217189) Rollinson S … Pickering-Brown SM (Neurobiology of aging 2009) 3 23 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for UBAP1 Gene

Sources for UBAP1 Gene