UVSSA - UV stimulated scaffold protein A Gene

Homo sapiens

Also known as UVSS3; KIAA1530

Gene ID: 57654 | Gene type: protein coding

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

UVSSA Protein Structure

DUF2043

0
200
400
600
709 a.a.

Protein Preferred Names

Protein Names

UV-stimulated scaffold protein A

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15589	UVSSA Human Pre-designed siRNA Set A		/	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

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