Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3187
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein H1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPH1
Synonyms (NCBI Gene) Gene synonyms aliases
HNRPH, HNRPH1, NEDCDS, hnRNPH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDCDS
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez 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 nuc
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023563 hsa-miR-1-3p Proteomics 18668040
MIRT030723 hsa-miR-21-5p Microarray 18591254
MIRT048075 hsa-miR-197-3p CLASH 23622248
MIRT048075 hsa-miR-197-3p CLASH 23622248
MIRT047811 hsa-miR-30d-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0003723 Function RNA binding IDA 16946708
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601035 5041 ENSG00000169045
Protein
UniProt ID P31943
Protein name Heterogeneous nuclear ribonucleoprotein H (hnRNP H) [Cleaved into: Heterogeneous nuclear ribonucleoprotein H, N-terminally processed]
Protein 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 p
PDB 2LXU , 6DHS , 7ZUG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 13 84 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 113 182 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF08080 zf-RNPHF 255 290 RNPHF zinc finger Domain
PF00076 RRM_1 291 358 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously.
Sequence
MMLGTEGGEGFVVKVRGLPWSCSADEVQRFFSDCKIQNGAQGIRFIYTREGRPSGEAFVE
LESEDEVKLALKKDRETMGHRYVE
VFKSNNVEMDWVLKHTGPNSPDTANDGFVRLRGLPF
GCSKEEIVQFFSGLEIVPNGITLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRY
IE
IFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGY
GGYDDYNGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRA
TENDIYNFFSPLNPVRVHIEIGPDGRVTGEADVEFATHEDAVAAMSKDKANMQHRYVE
LF
LNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGY
GGGYGGQSSMSGYDQVLQENSSDFQSNIA
Sequence length 449
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    FGFR2 alternative splicing
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lymphoblastic leukemia Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
23673860
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17566973
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Altitude Sickness Inhibit 33393628
Alzheimer Disease Associate 22303960
Amyotrophic Lateral Sclerosis Associate 24866055, 33055097
Amyotrophic lateral sclerosis 1 Associate 26192745
Breast Neoplasms Associate 25264628, 26367347, 30468106
Carcinoma Hepatocellular Associate 27088854, 29252188, 36499164
Colorectal Neoplasms Associate 32630435
Esophageal Squamous Cell Carcinoma Associate 27621578
Frontotemporal Dementia Associate 33055097
HAIR AN syndrome Associate 36499164