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HNRNPH1 Gene

protein-coding   GIFtS: 54
GCID: GC05M179043

Heterogeneous Nuclear Ribonucleoprotein H1 (H)


(Previous symbol: HNRPH1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Heterogeneous Nuclear Ribonucleoprotein H1 (H)1 2
HNRPH11 2 3 5
HNRPH2 3
Heterogeneous Nuclear Ribonucleoprotein H2
hnRNPH2
HnRNP H3

External Ids:    HGNC: 50411   Entrez Gene: 31872   Ensembl: ENSG000001690457   OMIM: 6010355   UniProtKB: P319433   

Export aliases for HNRNPH1 gene to outside databases

Previous GC identifers: GC05M178974 GC05M173768


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HNRNPH1 Gene:
This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins
(hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are
associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA
metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the
nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded
by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member
HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants
have been described (provided by RefSeq, Mar 2012)

GeneCards Summary for HNRNPH1 Gene:
HNRNPH1 (heterogeneous nuclear ribonucleoprotein H1 (H)) is a protein-coding gene. Diseases associated with HNRNPH1 include hereditary lymphedema, and lymphedema. GO annotations related to this gene include poly(U) RNA binding and RNA binding. An important paralog of this gene is RBM12B.

UniProtKB/Swiss-Prot: HNRH1_HUMAN, P31943
Function: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which
provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable
mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1,
insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG)

Gene Wiki entry for HNRNPH1 (HNRPH1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HNRNPH1 gene promoter:
         TBP   STAT1   Sox5   STAT1beta   IRF-1   Nkx2-5   STAT1alpha   FOXO4   TFIID   STAT2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHNRNPH1 promoter sequence
   Search Chromatin IP Primers for HNRNPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HNRNPH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

HNRNPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HNRNPH1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M179043:  view genomic region     (about GC identifiers)

Start:
179,041,179 bp from pter      End:
179,061,785 bp from pter
Size:
20,607 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: HNRH1_HUMAN, P31943 (See protein sequence)
Recommended Name: Heterogeneous nuclear ribonucleoprotein H  
Size: 449 amino acids; 49229 Da
Subunit: Part of a ternary complex containing FUBP2, PTBP1, PTBP2 and HNRNPH1. Identified in the spliceosome C
complex. Interacts with IGF2BP1. Interacts with CUGBP1; the interaction is RNA-dependent. Interacts with MBNL1;
the interaction in RNA-independent
1 PDB 3D structure from and Proteopedia for HNRNPH1:
2LXU (3D)    
Secondary accessions: B3KW86 D3DWQ2 Q6IBM4

Explore the universe of human proteins at neXtProt for HNRNPH1: NX_P31943

Explore proteomics data for HNRNPH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys14, Lys35, Lys87, Lys98, Lys167, Lys185, Lys200
  • Modification sites at PhosphoSitePlus

  • See HNRNPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001244222.1  NP_005511.1  

    ENSEMBL proteins: 
     ENSP00000377082   ENSP00000397797   ENSP00000349168   ENSP00000327539   ENSP00000425851  
     ENSP00000426275   ENSP00000429673   ENSP00000429481   ENSP00000427845   ENSP00000430445  
     ENSP00000428620   ENSP00000429270   ENSP00000427408   ENSP00000422955   ENSP00000425732  
     ENSP00000420850   ENSP00000427986   ENSP00000424087   ENSP00000423140   ENSP00000430970  
     ENSP00000430156   ENSP00000427388   ENSP00000426518   ENSP00000421695   ENSP00000429661  
     ENSP00000425343   ENSP00000427351   ENSP00000426726   ENSP00000429179   ENSP00000444220  
    Reactome Protein details: P31943

    HNRNPH1 Human Recombinant Protein Products:

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    Novus Biologicals HNRNPH1 Lysate
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    HNRNPH1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012996 Znf_CHHC
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry P31943

    ProtoNet protein and cluster: P31943

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB012996 Zinc finger


    UniProtKB/Swiss-Prot: HNRH1_HUMAN, P31943
    Domain: Each quasi-RRM repeat bound poly(RG), while only the N-terminal QRRM bound poly(RC) and poly(RU). None of
    the repeats bound detectable amounts of poly(RA)
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    HNRNPH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HNRH1_HUMAN, P31943
    Function: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which
    provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable
    mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1,
    insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG)
    Induction: Up-regulated in myotonic dystrophy pathophysiology (DM)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IDA16946708
    GO:0005515protein binding IPI16946708
    GO:0008266poly(U) RNA binding TAS7499401
         
    HNRNPH1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for HNRNPH1:
     Cell division defect  Decreased cell number, increas  Decreased homologous recombina  Decreased viability of wild-ty 
     Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HNRNPH1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HNRNPH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HNRNPH1:
    hsa-mir-222-3p (MIRT046766), hsa-mir-877-3p (MIRT036968), hsa-mir-30d-5p (MIRT047811), hsa-mir-149-5p (MIRT045394), hsa-mir-193b-3p (MIRT041384), hsa-mir-1 (MIRT023563), hsa-mir-331-3p (MIRT043417), hsa-mir-21-5p (MIRT030723), hsa-mir-197-3p (MIRT048075)

    Block miRNA regulation of human, mouse, rat HNRNPH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HNRNPH1 (see all 20):
    hsa-miR-21* hsa-miR-320a hsa-miR-495 hsa-miR-4328 hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-20b* hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidHNRNPH1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HNRNPH1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for HNRNPH1
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    GenScript: all cDNA clones in your preferred vector: HNRNPH1 (NM_005520)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HNRNPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HNRNPH1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HNRNPH1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HNRH1_HUMAN, P31943: Nucleus, nucleoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    cytosol4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS7499401
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm ----
    GO:0015629actin cytoskeleton ----
    GO:0071013catalytic step 2 spliceosome IDA11991638

    HNRNPH1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HNRNPH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    2Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for HNRNPH1
        mRNA processing

    2 Reactome Pathways for HNRNPH1
        mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA



    HNRNPH1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HNRNPH1
    Interactions:

        Search GeneGlobe Interaction Network for HNRNPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HNRNPH1 (P319432, 3 ENSP000003491684) via UniProtKB, MINT, STRING, and/or I2D (see all 896)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370119
    DDX5P178442, 3, ENSP000002257924MINT-7945693 MINT-7947479 MINT-8338487 I2D: score=1 STRING: ENSP00000225792
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000349960
    CCT4P509912, 3, ENSP000003779584MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000377958
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006396RNA processing TAS7499401
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--
    GO:0043484regulation of RNA splicing IDA16946708

    HNRNPH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HNRNPH1 (HNRH1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HNRNPH1 gene (2 alternative transcripts): 
    NM_001257293.1  NM_005520.2  

    Unigene Cluster for HNRNPH1:

    Heterogeneous nuclear ribonucleoprotein H1 (H)
    Hs.604001  [show with all ESTs]
    Unigene Representative Sequence: BX647205
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 50):
    ENST00000393432(uc021yjd.1 uc003mkf.4) ENST00000502904(uc011dgn.2)
    ENST00000442819(uc003mke.4) ENST00000356731(uc003mkh.4) ENST00000515481
    ENST00000514332(uc003mkg.4) ENST00000329433 ENST00000510678 ENST00000510411
    ENST00000523449 ENST00000524179 ENST00000519033 ENST00000521720 ENST00000502632
    ENST00000519958 ENST00000523136 ENST00000504549 ENST00000514731
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate HNRNPH1 (see all 20):
    hsa-miR-21* hsa-miR-320a hsa-miR-495 hsa-miR-4328 hsa-miR-520d-5p hsa-miR-485-3p hsa-miR-20b* hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidHNRNPH1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: HNRNPH1 (NM_005520)
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat HNRNPH1
      QuantiFast Probe-based Assays in human, mouse, rat HNRNPH1

    Additional mRNA sequence: 

    AK092273.1 AK124530.1 AK298193.1 AK307693.1 AK311021.1 BC001348.2 BX647205.1 CR456778.1 
    CR749414.1 L22009.1 

    Selected DOTS entries (see all 61):

    DT.91697189  DT.100881107  DT.100881105  DT.97805805  DT.92019775  DT.97788560  DT.120820453  DT.120820494 
    DT.120820460  DT.100649872  DT.97860617  DT.91762692  DT.95276837  DT.40133283  DT.100881111  DT.95291383 
    DT.99960760  DT.91762691  DT.449894  DT.87006909  DT.100881112  DT.120820510  DT.91712573  DT.91762690 

    Selected AceView cDNA sequences (see all 775):

    AA811583 BM973873 BG682422 BI089724 Z45944 BE294876 BQ028714 BU600976 
    AA972385 BQ771671 BQ951600 CB129051 BP376795 BQ064333 BG481177 CB851161 
    BI089715 AA908685 BM684056 CB110987 BQ653068 BM985428 AA811224 BX117576 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPH1 (see all 28)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a ·
    SP1:                                                                                                        -     -                             -     -     -   
    SP2:                                                                                -     -           -     -     -                             -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                -     -           -     -     -                             -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 9b · 9c · 9d · 9e ^ 10a · 10b · 10c · 10d · 10e · 10f ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18a ·
    SP1:                          -     -     -                                         -                             -                 -     -                     
    SP2:                          -     -     -                                                                                                                     
    SP3:                                                                                -                             -                 -     -                     
    SP4:  -     -     -     -     -     -     -                                                                                                                     
    SP5:                                                                                                                    -     -     -     -                     


    ECgene alternative splicing isoforms for HNRNPH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HNRNPH1 expression in normal human tissues (normalized intensities)      HNRNPH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HNRNPH1 Expression
    About this image


    HNRNPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    HNRNPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HNRNPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.604001

    UniProtKB/Swiss-Prot: HNRH1_HUMAN, P31943
    Tissue specificity: Expressed ubiquitously

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for HNRNPH1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hnrnph11 , 5 heterogeneous nuclear ribonucleoprotein H11, 5 96.44(n)1
    99.78(a)1
      11 (30.56 cM)5
    590131  NM_021510.21  NP_067485.11 
     503769905 
    chicken
    (Gallus gallus)
    Aves HNRNPH11 heterogeneous nuclear ribonucleoprotein H1 (H) 81.1(n)
    87.35(a)
      395157  NM_204496.1  NP_989827.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    84(a)
    1 → many
    2(140417161-140425189)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.226682 Xenopus laevis transcribed sequence with moderate similarity more 79.94(n)    BU913288.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.7822 Danio rerio mRNA similar to heterogeneous nuclear ribonucleoprotein more 80.02(n)    BC044161.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hrpf-21 hrpf-2 48.99(n)
    38.34(a)
      177398  NM_171360.3  NP_741422.1 


    ENSEMBL Gene Tree for HNRNPH1 (if available)
    TreeFam Gene Tree for HNRNPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HNRNPH1 gene
    RBM12B2  HNRNPH32  ESRP12  HNRNPH22  GRSF12  ESRP22  HNRNPF2  RBM122  
    8 SIMAP similar genes for HNRNPH1 using alignment to 27 protein entries:     HNRH1_HUMAN (see all proteins):
    DKFZp686A15170    HNRNPH2    HNRNPF    OK/SW-cl.23    HNRNPH3    GRSF1
    ESRP1    RBM12B

    HNRNPH1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for HNRNPH1
    PGOHUM00000244689 PGOHUM00000235226 PGOHUM00000257147 PGOHUM00000250191 PGOHUM00000241585


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HNRNPH1 (see all 325)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs720617821,2
    C--179040705(+) AGGCA-/AGGGAAGC 2 -- cds10--------
    rs710010141,2
    C--179040706(+) GGCAGGAG/-AAGCC 2 -- cds11Minor allele frequency- -:0.00NA 2
    rs68780591,2
    C,F--179040725(+) ggaggT/Ctgcag 2 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1493281681,2
    --179040727(+) AGGTTC/GCAGGT 2 -- ds50010--------
    rs754405191,2
    C,F--179040796(+) AAAAAA/CAAAAC 2 -- ds50011Minor allele frequency- C:0.09WA 118
    rs1446428921,2
    --179040802(+) AAAACA/CAACCT 2 -- ds50010--------
    rs1821098341,2
    --179040848(+) TCACAC/TCTCCC 2 -- ds50010--------
    rs1877669781,2
    --179040924(+) ACTGGC/TGCCTC 2 -- ds50010--------
    rs1918235871,2
    --179040954(+) TGCTTA/TATGAG 2 -- ds50010--------
    rs1484758341,2
    C--179040959(+) AATGAA/C/GTTACA 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for HNRNPH1 (179041179 - 179061785 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HNRNPH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv883270CNV Loss21882294
    nsv830560CNV Loss17160897
    nsv883273CNV Loss21882294
    nsv823357CNV Gain20364138
    nsv281OTHER Inversion15895083
    nsv7375OTHER Inversion18451855

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601035    OMIM disorders: --

    Selected diseases for HNRNPH1 (see all 24):    About MalaCards
    hereditary lymphedema    lymphedema    precursor t-cell acute lymphoblastic leukemia    endocarditis
    myotonic dystrophy    hepatitis c virus    hepatitis c    lymphoblastic leukemia
    tonsillitis    hiv-1    thyroiditis    colorectal cancer
    hepatocellular carcinoma    multiple myeloma    neuroblastoma    myeloma
    prostatitis    hepatitis    prostate cancer    leukemia


    HNRNPH1 for disorders           About GeneDecksing


    Export disorders for HNRNPH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HNRNPH1 gene, integrated from 10 sources (see all 135):
    (articles sorted by number of sources associating them with HNRNPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes. (PubMed id 7499401)1, 2, 3, 9 Honore B.... Celis J.E. (J. Biol. Chem. 1995)
    2. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (Mol. Cell. Proteomics 2007)
    3. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1- associated aberrant IR splicing. (PubMed id 16946708)1, 2 Paul S....Reddy S. (EMBO J. 2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    9. Cooperative assembly of an hnRNP complex induced by a tissue-specific homolog of polypyrimidine tract binding protein. (PubMed id 11003644)1, 2 Markovtsov V....Black D.L. (Mol. Cell. Biol. 2000)
    10. The hnRNP F protein: unique primary structure, nucleic acid-binding properties, and subcellular localization. (PubMed id 7512260)1, 2 Matunis M.J.... Dreyfuss G. (Nucleic Acids Res. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3187 HGNC: 5041 AceView: HNRPH1 Ensembl:ENSG00000169045 euGenes: HUgn3187
    ECgene: HNRNPH1 H-InvDB: HNRNPH1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HNRNPH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HNRNPH1 gene:
    Search GeneIP for patents involving HNRNPH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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