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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 Gene Expression. 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

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

Genomics for HNRNPH1 Gene

Regulatory Elements for HNRNPH1 Gene

Enhancers for HNRNPH1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G179619 1.7 Ensembl ENCODE dbSUPER 7.9 +12.5 12512 6.1 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ZFP41 LOC101928445 ZNF879 CLK4 RUFY1 MAML1 ENSG00000248367 ENSG00000253520 HNRNPH1 ENSG00000273549 GC05M179481
GH05G179969 1.2 FANTOM5 Ensembl ENCODE 3.6 -336.6 -336570 2.8 ZNF707 POLR2A NBN RELB ZNF18 RNF130 MIR340 TBC1D9B MRNIP MAML1 SQSTM1 RUFY1 HNRNPH1 GC05M179952 PIR35962
GH05G180069 1.7 FANTOM5 ENCODE dbSUPER 2.4 -436.2 -436196 3.6 MLX CREB3L1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZFP62 RNF130 MAML1 CNOT6 LOC100996419 LOC105377763 SQSTM1 HNRNPH1 GC05M180018
GH05G179633 0.5 dbSUPER 8.1 +0.2 245 1.6 PHF8 PRDM10 NR3C1 ZFX HNRNPH1 ENSG00000253520 ENSG00000273549
GH05G179730 1.6 FANTOM5 ENCODE dbSUPER 2.2 -97.9 -97856 4.0 PKNOX1 MLX CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 MAML1 CANX ENSG00000250509 RNF130 SQSTM1 HNRNPH1 RUFY1 GC05M179730
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HNRNPH1 on UCSC Golden Path with GeneCards custom track

Promoters for HNRNPH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000191572 583 1200 SP3 PHF8 HCFC1 ZNF76 NR3C1 YY1 PRDM10 ZFX ZBTB17

Genomic Location for HNRNPH1 Gene

Chromosome:
5
Start:
179,614,178 bp from pter
End:
179,634,784 bp from pter
Size:
20,607 bases
Orientation:
Minus strand

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 posLast=1414, isoforms=35, isoforms=87, and posLast=9898
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HNRNPH1 Gene

Domains & Families for HNRNPH1 Gene

Gene Families for HNRNPH1 Gene

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).

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 IDA,IEA 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

CRISPR Products

Inhibitory RNA 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

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 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

No Compound Related Data Available

Transcripts for HNRNPH1 Gene

Unigene Clusters for HNRNPH1 Gene

Heterogeneous nuclear ribonucleoprotein H1 (H):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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(4.4)
  • 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

Primer Products

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 34
  • 99.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HNRNPH1 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HNRNPH1 34 35
  • 97.48 (n)
dog
(Canis familiaris)
Mammalia HNRNPH1 34 35
  • 97.48 (n)
mouse
(Mus musculus)
Mammalia Hnrnph1 34 16 35
  • 96.44 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 82 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves HNRNPH1 34 35
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hnrnph1 34
  • 75.89 (n)
Str.17058 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22668 34
zebrafish
(Danio rerio)
Actinopterygii hnrnph1 35
  • 78 (a)
ManyToMany
hnrnph1l 34 35
  • 76.56 (n)
Dr.782 34
worm
(Caenorhabditis elegans)
Secernentea hrpf-2 34
  • 48.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000091706 -- 179,623,847(+) CAGCA(C/G)CCCCA intron-variant, upstream-variant-2KB
rs1000144967 -- 179,613,924(+) CTGGC(A/G)CCTCC downstream-variant-500B
rs1000209177 -- 179,614,992(+) GGAGT(A/G)ATATC intron-variant
rs1000241502 -- 179,624,112(+) CTGGC(C/T)GACCT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000260148 -- 179,619,676(+) AAGAA(C/T)ACATA intron-variant, utr-variant-5-prime

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)

Relevant External Links 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: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
precursor t-cell acute lymphoblastic leukemia
  • t-all
hereditary lymphedema
  • milroy's disease
lymphedema
  • lymphatic edema
congenital lymphedema
  • milroy disease
congenital myasthenic syndrome
  • familial limb-girdle myasthenia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HNRNPH1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Honore B. … Celis J.E. (J. Biol. Chem. 1995) 2 3 4 22 64
  2. Heterogeneous nuclear ribonucleoprotein H blocks MST2-mediated apoptosis in cancer cells by regulating A-Raf transcription. (PMID: 20145135) Rauch J. … Gires O. (Cancer Res. 2010) 3 22 64
  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. (J. Biol. Chem. 2009) 3 22 64
  4. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Joeson L. … Nielsen F.C. (Mol. Cell. Proteomics 2007) 3 4 64
  5. Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1- associated aberrant IR splicing. (PMID: 16946708) Paul S. … Reddy S. (EMBO J. 2006) 3 4 64

Products for HNRNPH1 Gene

Sources for HNRNPH1 Gene

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