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Aliases for HNRNPH1 Gene

Aliases for HNRNPH1 Gene

  • Heterogeneous Nuclear Ribonucleoprotein H1 2 3 5
  • Heterogeneous Nuclear Ribonucleoprotein H1 (H) 2 3
  • HNRPH1 3 4
  • HNRPH 3 4
  • Heterogeneous Nuclear Ribonucleoprotein H 3
  • HnRNP H 4
  • HnRNPH 3

External Ids for HNRNPH1 Gene

Previous HGNC Symbols for HNRNPH1 Gene

  • HNRPH1

Previous GeneCards Identifiers for HNRNPH1 Gene

  • GC05M178974
  • GC05M179043
  • GC05M173768

Summaries for HNRNPH1 Gene

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) is a Protein Coding gene. Diseases associated with HNRNPH1 include Precursor T-Cell Acute Lymphoblastic Leukemia and Hereditary Lymphedema. Among its related pathways are mRNA Splicing - Major Pathway and Signaling by FGFR2. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPH2.

UniProtKB/Swiss-Prot for HNRNPH1 Gene

  • 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 Gene

Additional gene information for HNRNPH1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPH1 Gene

Genomics for HNRNPH1 Gene

GeneHancer (GH) Regulatory Elements for HNRNPH1 Gene

Promoters and enhancers for HNRNPH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I179619 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 638.5 +12.5 12511 6.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 HNRNPH1 MAML1 MRNIP ZNF879 RUFY1 ZFP2 GRM6 ZNF354C LOC100996419 ENSG00000254035
GH05I179633 Promoter/Enhancer 0.9 Ensembl dbSUPER 558.1 +0.6 583 1.2 ZNF335 GABPB1 PRDM10 HNRNPH1 ENSG00000253520 ENSG00000273549
GH05I179696 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 66.6 -64.2 -64161 4.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC CANX GC05M179696 MAML1 HNRNPH1 ZNF354B RUFY1 MRNIP ZNF879 LOC101928445 ADAMTS2
GH05I180069 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 38.5 -436.2 -436195 3.6 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 POLR2B RNF130 ZFP62 MRNIP HNRNPH1 MAML1 LOC100996419 RN7SKP150 CNOT6 RUFY1 TBC1D9B
GH05I179817 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37.8 -185.8 -185775 6.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SQSTM1 MRNIP HNRNPH1 MAML1 ZNF354C TBC1D9B RUFY1 RNF130 LOC105377763 ZNF879
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HNRNPH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HNRNPH1 gene promoter:

Genomic Locations for HNRNPH1 Gene

Genomic Locations for HNRNPH1 Gene
chr5:179,614,178-179,634,784
(GRCh38/hg38)
Size:
20,607 bases
Orientation:
Minus strand
chr5:179,041,179-179,061,785
(GRCh37/hg19)

Genomic View for HNRNPH1 Gene

Genes around HNRNPH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPH1 Gene

Proteins for HNRNPH1 Gene

  • Protein details for HNRNPH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31943-HNRH1_HUMAN
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein H
    Protein Accession:
    P31943
    Secondary Accessions:
    • B3KW86
    • D3DWQ2
    • Q6IBM4

    Protein attributes for HNRNPH1 Gene

    Size:
    449 amino acids
    Molecular mass:
    49229 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for HNRNPH1 Gene

neXtProt entry for HNRNPH1 Gene

Post-translational modifications for HNRNPH1 Gene

  • Ubiquitination at isoforms=14, isoforms=35, posLast=8787, and isoforms=98

No data available for DME Specific Peptides for HNRNPH1 Gene

Domains & Families for HNRNPH1 Gene

Gene Families for HNRNPH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HNRNPH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P31943

UniProtKB/Swiss-Prot:

HNRH1_HUMAN :
  • 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).
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).
genes like me logo Genes that share domains with HNRNPH1: view

Function for HNRNPH1 Gene

Molecular function for HNRNPH1 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Induction:
Up-regulated in myotonic dystrophy pathophysiology (DM).

Phenotypes From GWAS Catalog for HNRNPH1 Gene

Gene Ontology (GO) - Molecular Function for HNRNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 16946708
GO:0005515 protein binding IPI 9111328
GO:0008266 poly(U) RNA binding TAS 7499401
genes like me logo Genes that share ontologies with HNRNPH1: view
genes like me logo Genes that share phenotypes with HNRNPH1: view

Animal Models for HNRNPH1 Gene

MGI Knock Outs for HNRNPH1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HNRNPH1 Gene

Localization for HNRNPH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPH1 Gene

Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNRNPH1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HNRNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,TAS 24910439
GO:0005654 nucleoplasm IDA,TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA,IDA 19946888
genes like me logo Genes that share ontologies with HNRNPH1: view

Pathways & Interactions for HNRNPH1 Gene

genes like me logo Genes that share pathways with HNRNPH1: view

Pathways by source for HNRNPH1 Gene

Gene Ontology (GO) - Biological Process for HNRNPH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing TAS 7499401
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with HNRNPH1: view

No data available for SIGNOR curated interactions for HNRNPH1 Gene

Drugs & Compounds for HNRNPH1 Gene

(1) Drugs for HNRNPH1 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
genes like me logo Genes that share compounds with HNRNPH1: view

Transcripts for HNRNPH1 Gene

Unigene Clusters for HNRNPH1 Gene

Heterogeneous nuclear ribonucleoprotein H1 (H):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPH1 Gene

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:
SP6: - - - - -
SP7: - - -
SP8: - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - -
SP14:
SP15:
SP16:
SP17:
SP18: - - - - - - -
SP19: - - -
SP20:
SP21: - - - - -
SP22:
SP23: - - - - - - - -
SP24: - - - - - - - -
SP25: - -
SP26:
SP27:
SP28:

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: - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8:
SP9:
SP10:
SP11: - - - - - - -
SP12:
SP13:
SP14: - - -
SP15: - -
SP16: - - - -
SP17:
SP18: - - -
SP19: - - - - - - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28: - - -

Relevant External Links for HNRNPH1 Gene

GeneLoc Exon Structure for
HNRNPH1
ECgene alternative splicing isoforms for
HNRNPH1

Expression for HNRNPH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HNRNPH1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HNRNPH1 Gene



Protein tissue co-expression partners for HNRNPH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HNRNPH1 Gene:

HNRNPH1

SOURCE GeneReport for Unigene cluster for HNRNPH1 Gene:

Hs.604001

mRNA Expression by UniProt/SwissProt for HNRNPH1 Gene:

P31943-HNRH1_HUMAN
Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for HNRNPH1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Skin(4.6)
  • Muscle(4.5)
  • Lung(4)
  • Intestine(3.6)
  • Kidney(3.5)
  • Bone marrow(2.7)
  • Lymph node(2.6)
  • Spleen(2.6)
  • Blood(2.5)
  • Eye(2.5)
  • Stomach(2.4)
  • Adrenal gland(2.3)
  • Gall bladder(2.3)
  • Thyroid gland(2.3)
  • Heart(2.1)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with HNRNPH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPH1 Gene

Orthologs for HNRNPH1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HNRNPH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HNRNPH1 33
  • 99.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HNRNPH1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HNRNPH1 33 34
  • 97.48 (n)
dog
(Canis familiaris)
Mammalia HNRNPH1 33 34
  • 97.48 (n)
mouse
(Mus musculus)
Mammalia Hnrnph1 33 16 34
  • 96.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves HNRNPH1 33 34
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hnrnph1 33
  • 75.89 (n)
Str.17058 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22668 33
zebrafish
(Danio rerio)
Actinopterygii hnrnph1 34
  • 78 (a)
ManyToMany
hnrnph1l 33 34
  • 76.56 (n)
Dr.782 33
worm
(Caenorhabditis elegans)
Secernentea hrpf-2 33
  • 48.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for HNRNPH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HNRNPH1 Gene

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

Paralogs for HNRNPH1 Gene

Variants for HNRNPH1 Gene

Sequence variations from dbSNP and Humsavar for HNRNPH1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000091706 -- 179,623,847(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000144967 -- 179,613,924(-) G/A downstream_transcript_variant
rs1000209177 -- 179,614,992(-) A/G intron_variant
rs1000241502 -- 179,624,112(-) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000260148 -- 179,619,676(-) C/T 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HNRNPH1 Gene

Variant ID Type Subtype PubMed ID
dgv214n111 CNV duplication 26073780
nsv281 OTHER inversion 15895083
nsv7375 OTHER inversion 18451855
nsv823357 CNV gain 20364138
nsv830560 CNV loss 17160897
nsv968286 CNV duplication 23825009

Variation tolerance for HNRNPH1 Gene

Residual Variation Intolerance Score: 31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPH1 Gene

Human Gene Mutation Database (HGMD)
HNRNPH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HNRNPH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPH1 Gene

Disorders for HNRNPH1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HNRNPH1 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
hereditary lymphedema
  • nonne-milroy lymphedema
lymphedema
  • lymphatic edema
congenital lymphedema
  • milroy disease
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HNRNPH1

genes like me logo Genes that share disorders with HNRNPH1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HNRNPH1 Gene

Publications for HNRNPH1 Gene

  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. (PMID: 7499401) Honoré B … Celis JE (The Journal of biological chemistry 1995) 2 3 4 22 58
  2. Heterogeneous nuclear ribonucleoprotein H blocks MST2-mediated apoptosis in cancer cells by regulating A-Raf transcription. (PMID: 20145135) Rauch J … Gires O (Cancer research 2010) 3 22 58
  3. Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs. (PMID: 19244236) Wang E … Cambi F (The Journal of biological chemistry 2009) 3 22 58
  4. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Jønson L … Nielsen FC (Molecular & cellular proteomics : MCP 2007) 3 4 58
  5. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing. (PMID: 16946708) Paul S … Reddy S (The EMBO journal 2006) 3 4 58

Products for HNRNPH1 Gene

Sources for HNRNPH1 Gene