XAB2 - XPA binding protein 2 Gene

Also Known as HCNP; HCRN; SYF1; NTC90

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56949

About XAB2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,619,525-7,629,545 (from NCBI)

This gene has 4 transcripts (splice variants), 194 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 21.5), ovary (RPKM 19.8) and 25 other tissues.

Summary

Involved in mRNA splicing, via spliceosome; transcription, DNA-templated; and transcription-coupled nucleotide-excision repair. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

XAB2 Products (1)

mRNA	Protein	Name
NM_020196.3	NP_064581.2	pre-mRNA-splicing factor SYF1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10944529	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA-templated transcription	IDA IDA: Inferred from direct assay	10944529	GOA
involved in mRNA splicing, via spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
involved in transcription-coupled nucleotide-excision repair	IDA IDA: Inferred from direct assay	10944529	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of U2-type catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	28076346	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	GOA
located in nucleus	IDA IDA: Inferred from direct assay	28076346	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

XAB2 Protein Structure

TPR_2

0
200
400
600
800
855 a.a.

Protein Preferred Names	Protein Names
pre-mRNA-splicing factor SYF1	SYF1 homolog, RNA splicing factor

XAB2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	XAB2	Q9HCS7	ISY1	Homo sapiens	Q9ULR0	Y2H Array	32296183
Intra	XAB2	Q9HCS7	ISY1	Homo sapiens	Q9ULR0	Y2H	22365833
Intra	XAB2	Q9HCS7	ISY1	Homo sapiens	Q9ULR0	Y2H Prey Pooling	32296183
Intra	XAB2	Q9HCS7	ISY1	Homo sapiens	Q9ULR0	Validated Y2H	32296183
Intra	XAB2	Q9HCS7	XPA	Homo sapiens	P23025	Y2H	10944529
Intra	XAB2	Q9HCS7	XPA	Homo sapiens	P23025	Pull Down	10944529
Intra	XAB2	Q9HCS7	POLR2A	Homo sapiens	P24928	CoIP	10944529
Intra	XAB2	Q9HCS7	DHX16	Homo sapiens	O60231	Y2H	22365833
Intra	XAB2	Q9HCS7	PPIE	Homo sapiens	Q9UNP9	Y2H Prey Pooling	32296183
Intra	XAB2	Q9HCS7	PPIE	Homo sapiens	Q9UNP9	Y2H Prey Pooling	25416956
Intra	XAB2	Q9HCS7	PPIE	Homo sapiens	Q9UNP9	Validated Y2H	32296183
Intra	XAB2	Q9HCS7	PPIE	Homo sapiens	Q9UNP9	Y2H Array	25416956
Intra	XAB2	Q9HCS7	PPIE	Homo sapiens	Q9UNP9	Y2H Array	32296183
Intra	XAB2	Q9HCS7	IK	Homo sapiens	Q13123	Y2H	22365833

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
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
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
Choroid Plexus Meningioma	Choroid Meningioma Meningioma Of The Choroid Plexus
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
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
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
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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS15863	XAB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	XAB2	VGNC	VGNC:48445
Felis catus	XAB2	VGNC	VGNC:67101
Mus musculus	XAB2	MGD	MGI:1914689
Bos taurus	XAB2	VGNC	VGNC:36981
Macaca mulatta	XAB2	VGNC	VGNC:78943
Rattus norvegicus	XAB2	RGD	RGD:621217
Others	XAB2	NCBI