U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    PRPF40B pre-mRNA processing factor 40 homolog B [ Homo sapiens (human) ]

    Gene ID: 25766, updated on 27-Nov-2024

    Summary

    Official Symbol
    PRPF40Bprovided by HGNC
    Official Full Name
    pre-mRNA processing factor 40 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:25031
    See related
    Ensembl:ENSG00000110844 MIM:621019; AllianceGenome:HGNC:25031
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYPC
    Summary
    This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]
    Expression
    Broad expression in testis (RPKM 13.2), thyroid (RPKM 7.6) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRPF40B in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49622646..49644665)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49585655..49607675)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50017344..50038448)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 186 member B Neighboring gene PARK7 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4441 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50041399-50042391 Neighboring gene formin like 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:50052522-50052699 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50056671-50057609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:50067301-50067999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6323 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50090751-50091252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4442 Neighboring gene uncharacterized LOC124902929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6329 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 5 Neighboring gene MPRA-validated peak1727 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:50134965-50135656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6332 Neighboring gene transmembrane BAX inhibitor motif containing 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in mRNA cis splicing, via spliceosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of U1 snRNP IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of U2-type prespliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pre-mRNA-processing factor 40 homolog B
    Names
    Huntingtin interacting protein C
    PRP40 pre-mRNA processing factor 40 homolog B
    huntingtin yeast partner C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032901.2 RefSeqGene

      Range
      60197..81452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_625

    mRNA and Protein(s)

    1. NM_001031698.3NP_001026868.2  pre-mRNA-processing factor 40 homolog B isoform 1

      See identical proteins and their annotated locations for NP_001026868.2

      Status: REVIEWED

      Source sequence(s)
      AC020612
      Consensus CDS
      CCDS31796.2
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      UniProtKB/TrEMBL
      F8VU11
      Related
      ENSP00000448073.2, ENST00000548825.7
      Conserved Domains (6) summary
      smart00441
      Location:655703
      FF; Contains two conserved F residues
      COG5104
      Location:111603
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:159188
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:120145
      WW; WW domain
      pfam01846
      Location:300349
      FF; FF domain
      cl21455
      Location:422480
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_001363607.2NP_001350536.2  pre-mRNA-processing factor 40 homolog B isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC020612
      Consensus CDS
      CCDS86298.2
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      UniProtKB/TrEMBL
      A0A8Z5ADK7
      Related
      ENSP00000369634.2, ENST00000380281.6
      Conserved Domains (2) summary
      smart00441
      Location:655703
      FF; Contains two conserved F residues
      COG5104
      Location:111603
      PRP40; Splicing factor [RNA processing and modification]
    3. NM_001379030.1NP_001365959.1  pre-mRNA-processing factor 40 homolog B isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:645693
      FF; Contains two conserved F residues
      COG5104
      Location:111593
      PRP40; Splicing factor [RNA processing and modification]
    4. NM_001379031.1NP_001365960.1  pre-mRNA-processing factor 40 homolog B isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:628676
      FF; Contains two conserved F residues
      COG5104
      Location:84576
      PRP40; Splicing factor [RNA processing and modification]
    5. NM_001379032.1NP_001365961.1  pre-mRNA-processing factor 40 homolog B isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:628676
      FF; Contains two conserved F residues
      COG5104
      Location:84576
      PRP40; Splicing factor [RNA processing and modification]
    6. NM_001379033.1NP_001365962.1  pre-mRNA-processing factor 40 homolog B isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:618666
      FF; Contains two conserved F residues
      COG5104
      Location:117566
      PRP40; Splicing factor [RNA processing and modification]
    7. NM_001379034.1NP_001365963.1  pre-mRNA-processing factor 40 homolog B isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:618666
      FF; Contains two conserved F residues
      COG5104
      Location:117566
      PRP40; Splicing factor [RNA processing and modification]
    8. NM_001379035.1NP_001365964.1  pre-mRNA-processing factor 40 homolog B isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:591639
      FF; Contains two conserved F residues
      COG5104
      Location:90539
      PRP40; Splicing factor [RNA processing and modification]
    9. NM_001379036.1NP_001365965.1  pre-mRNA-processing factor 40 homolog B isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:591639
      FF; Contains two conserved F residues
      COG5104
      Location:90539
      PRP40; Splicing factor [RNA processing and modification]
    10. NM_001379037.1NP_001365966.1  pre-mRNA-processing factor 40 homolog B isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (2) summary
      smart00441
      Location:536584
      FF; Contains two conserved F residues
      COG5104
      Location:90484
      PRP40; Splicing factor [RNA processing and modification]
    11. NM_012272.3NP_036404.1  pre-mRNA-processing factor 40 homolog B isoform 2

      See identical proteins and their annotated locations for NP_036404.1

      Status: REVIEWED

      Source sequence(s)
      AC020612
      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Related
      ENSP00000261897.1, ENST00000261897.5
      Conserved Domains (6) summary
      smart00441
      Location:620668
      FF; Contains two conserved F residues
      COG5104
      Location:83568
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:131160
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:92117
      WW; WW domain
      pfam01846
      Location:272321
      FF; FF domain
      cl21455
      Location:394452
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49622646..49644665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428678.1XP_047284634.1  pre-mRNA-processing factor 40 homolog B isoform X11

    2. XM_017019135.3XP_016874624.1  pre-mRNA-processing factor 40 homolog B isoform X10

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
    3. XM_011538139.4XP_011536441.1  pre-mRNA-processing factor 40 homolog B isoform X4

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (6) summary
      smart00441
      Location:655703
      FF; Contains two conserved F residues
      COG5104
      Location:111603
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:159188
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:120145
      WW; WW domain
      pfam01846
      Location:300349
      FF; FF domain
      cl21455
      Location:422480
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    4. XM_011538140.4XP_011536442.1  pre-mRNA-processing factor 40 homolog B isoform X5

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (6) summary
      smart00441
      Location:655703
      FF; Contains two conserved F residues
      COG5104
      Location:111603
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:159188
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:120145
      WW; WW domain
      pfam01846
      Location:300349
      FF; FF domain
      cl21455
      Location:422480
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    5. XM_011538143.4XP_011536445.1  pre-mRNA-processing factor 40 homolog B isoform X8

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (6) summary
      smart00441
      Location:628676
      FF; Contains two conserved F residues
      COG5104
      Location:84576
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:132161
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:93118
      WW; WW domain
      pfam01846
      Location:273322
      FF; FF domain
      cl21455
      Location:395453
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    6. XM_047428677.1XP_047284633.1  pre-mRNA-processing factor 40 homolog B isoform X9

    7. XM_047428674.1XP_047284630.1  pre-mRNA-processing factor 40 homolog B isoform X3

    8. XM_047428676.1XP_047284632.1  pre-mRNA-processing factor 40 homolog B isoform X7

    9. XM_047428675.1XP_047284631.1  pre-mRNA-processing factor 40 homolog B isoform X6

    10. XM_047428679.1XP_047284635.1  pre-mRNA-processing factor 40 homolog B isoform X13

    11. XM_017019138.2XP_016874627.1  pre-mRNA-processing factor 40 homolog B isoform X12

    12. XM_006719324.5XP_006719387.1  pre-mRNA-processing factor 40 homolog B isoform X1

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (6) summary
      smart00441
      Location:717765
      FF; Contains two conserved F residues
      COG5104
      Location:173665
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:221250
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:182207
      WW; WW domain
      pfam01846
      Location:362411
      FF; FF domain
      cl21455
      Location:484542
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    13. XM_006719325.5XP_006719388.1  pre-mRNA-processing factor 40 homolog B isoform X2

      UniProtKB/Swiss-Prot
      O75401, Q6NWY9, Q6PI09, Q6ZWB3, Q8NCZ1, Q9H5G4, Q9NT95
      Conserved Domains (6) summary
      smart00441
      Location:717765
      FF; Contains two conserved F residues
      COG5104
      Location:173665
      PRP40; Splicing factor [RNA processing and modification]
      cd00201
      Location:221250
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:182207
      WW; WW domain
      pfam01846
      Location:362411
      FF; FF domain
      cl21455
      Location:484542
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49585655..49607675
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371695.1XP_054227670.1  pre-mRNA-processing factor 40 homolog B isoform X11

    2. XM_054371694.1XP_054227669.1  pre-mRNA-processing factor 40 homolog B isoform X10

    3. XM_054371688.1XP_054227663.1  pre-mRNA-processing factor 40 homolog B isoform X4

    4. XM_054371689.1XP_054227664.1  pre-mRNA-processing factor 40 homolog B isoform X5

    5. XM_054371692.1XP_054227667.1  pre-mRNA-processing factor 40 homolog B isoform X8

    6. XM_054371693.1XP_054227668.1  pre-mRNA-processing factor 40 homolog B isoform X9

    7. XM_054371687.1XP_054227662.1  pre-mRNA-processing factor 40 homolog B isoform X3

    8. XM_054371691.1XP_054227666.1  pre-mRNA-processing factor 40 homolog B isoform X7

    9. XM_054371690.1XP_054227665.1  pre-mRNA-processing factor 40 homolog B isoform X6

    10. XM_054371697.1XP_054227672.1  pre-mRNA-processing factor 40 homolog B isoform X13

    11. XM_054371696.1XP_054227671.1  pre-mRNA-processing factor 40 homolog B isoform X12

    12. XM_054371685.1XP_054227660.1  pre-mRNA-processing factor 40 homolog B isoform X1

    13. XM_054371686.1XP_054227661.1  pre-mRNA-processing factor 40 homolog B isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_052006.1: Suppressed sequence

      Description
      NR_052006.1: This RefSeq was permanently suppressed because it is now thought that this transcript does encode a protein.