Human Gene XAB2 (ENST00000358368.5_7) from GENCODE V47lift37
  Description: XPA binding protein 2 (from RefSeq NM_020196.3)
Gencode Transcript: ENST00000358368.5_7
Gencode Gene: ENSG00000076924.12_9
Transcript (Including UTRs)
   Position: hg19 chr19:7,684,411-7,694,431 Size: 10,021 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr19:7,684,472-7,694,413 Size: 9,942 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:7,684,411-7,694,431)mRNA (may differ from genome)Protein (855 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYF1_HUMAN
DESCRIPTION: RecName: Full=Pre-mRNA-splicing factor SYF1; AltName: Full=Protein HCNP; AltName: Full=XPA-binding protein 2;
FUNCTION: Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing.
SUBUNIT: Associates with RNA polymerase II, the TCR-specific proteins CKN1/CSA and ERCC6/CSB, and XPA. Identified in the spliceosome C complex.
INTERACTION: Q13216:ERCC8; NbExp=3; IntAct=EBI-295232, EBI-295260; P24928:POLR2A; NbExp=2; IntAct=EBI-295232, EBI-295301; P23025:XPA; NbExp=2; IntAct=EBI-295232, EBI-295222;
SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Detected in the splicing complex carrying pre-mRNA (By similarity).
SIMILARITY: Belongs to the crooked-neck family.
SIMILARITY: Contains 14 HAT repeats.
SEQUENCE CAUTION: Sequence=AAF86951.1; Type=Frameshift; Positions=314, 411, 426, 429, 468; Sequence=AAH08778.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB84861.1; Type=Miscellaneous discrepancy; Note=Alternative splicing. Incomplete sequence;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hcnp/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: XAB2
Diseases sorted by gene-association score: cockayne syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.55 RPKM in Testis
Total median expression: 1216.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.9018-0.272 Picture PostScript Text
3' UTR -1.1061-0.018 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003107 - HAT
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR013105 - TPR_2
IPR019734 - TPR_repeat

Pfam Domains:
PF01535 - PPR repeat
PF13176 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
116846 - MIT domain

ModBase Predicted Comparative 3D Structure on Q9HCS7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000349 generation of catalytic spliceosome for first transesterification step
GO:0000398 mRNA splicing, via spliceosome
GO:0001824 blastocyst development
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006351 transcription, DNA-templated
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0006974 cellular response to DNA damage stimulus
GO:0008380 RNA splicing
GO:0021987 cerebral cortex development

Cellular Component:
GO:0000974 Prp19 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0016020 membrane
GO:0071007 U2-type catalytic step 2 spliceosome
GO:0071010 prespliceosome
GO:0071012 catalytic step 1 spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0071014 post-mRNA release spliceosomal complex


-  Descriptions from all associated GenBank mRNAs
  LF208009 - JP 2014500723-A/15512: Polycomb-Associated Non-Coding RNAs.
AK025858 - Homo sapiens cDNA: FLJ22205 fis, clone HRC01424.
BC007208 - Homo sapiens XPA binding protein 2, mRNA (cDNA clone MGC:14854 IMAGE:2823235), complete cds.
AF226051 - Homo sapiens HCNP (HCNP) mRNA, complete cds.
AB033003 - Homo sapiens mRNA for KIAA1177 protein, partial cds.
AK074035 - Homo sapiens mRNA for FLJ00081 protein.
BC008778 - Homo sapiens XPA binding protein 2, mRNA (cDNA clone IMAGE:3605650), partial cds.
AF272147 - Homo sapiens crn-related protein kim1 mRNA, complete cds.
CR749864 - Homo sapiens mRNA; cDNA DKFZp762C1015 (from clone DKFZp762C1015).
AB026111 - Homo sapiens mRNA for XAB2, complete cds.
AF258567 - Homo sapiens PP3898 mRNA, complete cds.
LF370956 - JP 2014500723-A/178459: Polycomb-Associated Non-Coding RNAs.
DQ893187 - Synthetic construct clone IMAGE:100005817; FLH195003.01X; RZPDo839H0580D XPA binding protein 2 (XAB2) gene, encodes complete protein.
DQ896508 - Synthetic construct Homo sapiens clone IMAGE:100010968; FLH194999.01L; RZPDo839H0570D XPA binding protein 2 (XAB2) gene, encodes complete protein.
LF370957 - JP 2014500723-A/178460: Polycomb-Associated Non-Coding RNAs.
LF370958 - JP 2014500723-A/178461: Polycomb-Associated Non-Coding RNAs.
LF370961 - JP 2014500723-A/178464: Polycomb-Associated Non-Coding RNAs.
LF370963 - JP 2014500723-A/178466: Polycomb-Associated Non-Coding RNAs.
CU675557 - Synthetic construct Homo sapiens gateway clone IMAGE:100020533 5' read XAB2 mRNA.
JD160328 - Sequence 141352 from Patent EP1572962.
JD525978 - Sequence 507002 from Patent EP1572962.
MA606533 - JP 2018138019-A/178459: Polycomb-Associated Non-Coding RNAs.
MA606534 - JP 2018138019-A/178460: Polycomb-Associated Non-Coding RNAs.
MA606535 - JP 2018138019-A/178461: Polycomb-Associated Non-Coding RNAs.
MA606538 - JP 2018138019-A/178464: Polycomb-Associated Non-Coding RNAs.
MA606540 - JP 2018138019-A/178466: Polycomb-Associated Non-Coding RNAs.
MA443586 - JP 2018138019-A/15512: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HCS7 (Reactome details) participates in the following event(s):

R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-6782004 Assembly of the pre-incision complex in TC-NER
R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6
R-HSA-6782131 RNA Pol II backtracking in TC-NER
R-HSA-6782138 ERCC5 and RPA bind TC-NER site
R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site
R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER
R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER
R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-72172 mRNA Splicing
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73894 DNA Repair
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000358368.1, ENST00000358368.2, ENST00000358368.3, ENST00000358368.4, HCNP, KIAA1177, NM_020196, PP3898, Q8TET6, Q96HB0, Q96IW0, Q9HCS7, Q9NRG6, Q9ULP3, SYF1, SYF1_HUMAN, uc318amz.1, uc318amz.2
UCSC ID: ENST00000358368.5_7
RefSeq Accession: NM_020196.3
Protein: Q9HCS7 (aka SYF1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.