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UBAP1 - ubiquitin associated protein 1 Gene

Also Known as UAP; UBAP; NAG20; SPG80; UBAP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51271

About UBAP1

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,179,005-34,252,523 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 39.6), testis (RPKM 26.3) and 25 other tissues.

Summary

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]

UBAP1 Products (5)

mRNA	Protein	Name
NM_001171201.1	NP_001164672.1	ubiquitin-associated protein 1 isoform 2
NM_001171202.1	NP_001164673.1	ubiquitin-associated protein 1 isoform 3
NM_001171203.3	NP_001164674.1	ubiquitin-associated protein 1 isoform 1
NM_001171204.3	NP_001164675.1	ubiquitin-associated protein 1 isoform 1
NM_016525.5	NP_057609.2	ubiquitin-associated protein 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	21757351	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	21757351	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of ESCRT I complex	IDA IDA: Inferred from direct assay	21757351	GOA
part of ESCRT I complex	IPI IPI: Inferred from physical interaction	21757351	GOA
located in cytosol	IDA IDA: Inferred from direct assay	21757351	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
ubiquitin-associated protein 1	nasopharyngeal carcinoma-associated gene 20 protein

UBAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	UBAP1	Q9NZ09	PPIC	Homo sapiens	P45877	Validated Y2H	25416956
Intra	UBAP1	Q9NZ09	PPIC	Homo sapiens	P45877	Y2H Array	25416956
Intra	UBAP1	Q9NZ09	PPIC	Homo sapiens	P45877	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant UBAP1 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P71396	UBAP1 Protein, Human (His)	Q9NZ09-1 (M1-S502)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Spastic Paraplegia 80, Autosomal Dominant	SPG80 Hereditary Spastic Paraplegia 80 Spastic Paraplegia 80 Autosomal Dominant Doid:0112341
Spastic Paraplegia 12, Autosomal Dominant	SPG12 Hereditary Spastic Paraplegia 12 Autosomal Dominant Spastic Paraplegia Type 12 Autosomal Dominant Spastic Paraplegia 12 Spastic Paraplegia 12 Spastic Paraplegia-12 Paraplegia, Spastic, Autosomal Dominant, Type 12
Nasopharyngeal Carcinoma	Malignant Neoplasm Of Nasopharynx Npc Nasopharyngeal Cancer Nasopharyngeal Carcinoma 1 Nasopharynx Carcinoma Nasopharyngeal Neoplasms Npca Carcinoma Of Nasopharynx Malignant Nasopharyngeal Tumor Nasopharynx Cancer Squamous Cell Carcinoma Of The Nasopharynx Nasopharyngeal Neoplasm Cancer Of Nasopharynx
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 83, Autosomal Recessive	SPG83 Hereditary Spastic Paraplegia 83 Spastic Paraplegia 83 Autosomal Recessive Doid:0112346 Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Paraplegia 81, Autosomal Recessive	SPG81 Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction Hereditary Spastic Paraplegia 81 Spastic Paraplegia 81 Autosomal Recessive Doid:0112349
Spastic Paraplegia 82, Autosomal Recessive	SPG82 Hereditary Spastic Paraplegia 82 Spastic Paraplegia 82 Autosomal Recessive Doid:0112343
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS15328	UBAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16437	UBAP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21800	Ubap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21970	Ubap1l Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28487	Ubap1l Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UBAP1	MGD	MGI:2149543
Felis catus	UBAP1	VGNC	VGNC:97677
Bos taurus	UBAP1	VGNC	VGNC:36571
Macaca mulatta	UBAP1	VGNC	VGNC:78686
Rattus norvegicus	UBAP1	RGD	RGD:1305186
Others	UBAP1	NCBI