UVSSA - UV stimulated scaffold protein A Gene

Also Known as UVSS3; KIAA1530

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57654

About UVSSA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,342,011-1,395,989 (from NCBI)

This gene has 13 transcripts (splice variants), 85 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues.

Summary

The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

UVSSA Products (3)

mRNA	Protein	Name
NM_001317934.2	NP_001304863.1	UV-stimulated scaffold protein A
NM_001317935.2	NP_001304864.1	UV-stimulated scaffold protein A
NM_020894.4	NP_065945.2	UV-stimulated scaffold protein A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables RNA polymerase II complex binding	IDA IDA: Inferred from direct assay	22466611	GOA
enables RNA polymerase II complex binding	IMP IMP: Inferred from mutant phenotype	22466610	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22466611	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein ubiquitination	IMP IMP: Inferred from mutant phenotype	22466610	GOA
involved in response to UV	IMP IMP: Inferred from mutant phenotype	22466610	GOA
involved in transcription-coupled nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	22466610	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome	IDA IDA: Inferred from direct assay	22466611	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

UVSSA Protein Structure

DUF2043

0
200
400
600
709 a.a.

Protein Preferred Names	Protein Names
UV-stimulated scaffold protein A

UVSSA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	UVSSA	Q2YD98	KPNA3	Homo sapiens	O00505	Y2H Array	32296183
Intra	UVSSA	Q2YD98	KPNA3	Homo sapiens	O00505	Y2H Prey Pooling	32296183
Intra	UVSSA	Q2YD98	MAGEA4	Homo sapiens	P43358	Y2H Array	32296183
Intra	UVSSA	Q2YD98	MAGEA4	Homo sapiens	P43358	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Uv-Sensitive Syndrome 3	UVSS3
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138794	XL177A	Inhibitor	99.60%	Unkown
HY-138794A	(Rac)-XL177A	Inhibitor	/	Unkown
HY-138794G	XL177A (GMP)	Inhibitor	/	Unkown
HY-RS15589	UVSSA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22906	Uvssa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29420	Uvssa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	UVSSA	VGNC	VGNC:107209
Bos taurus	UVSSA	VGNC	VGNC:36752
Mus musculus	UVSSA	MGD	MGI:1918351
Canis familiaris	UVSSA	VGNC	VGNC:48219
Felis catus	UVSSA	VGNC	VGNC:80116
Rattus norvegicus	UVSSA	RGD	RGD:1306371
Others	UVSSA	NCBI