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 |
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 |
|
Sequence length |
449 |
Interactions |
View interactions
|
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, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 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 |
Leukemia Myeloid Acute |
Associate
|
37400142 |
Lymphatic Metastasis |
Associate
|
29252188 |
Lymphoma Mantle Cell |
Associate
|
32160292, 32584970 |
Malformations of Cortical Development Group I |
Associate
|
28381165 |
Neoplasms |
Associate
|
20145135, 21068389, 24045656, 27621578, 30120239, 32630435, 34563043 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
30171027, 34873036 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
23673860 |
Prostatic Neoplasms |
Associate
|
26553749, 37143720 |
Prostatitis |
Associate
|
26553749 |
Pulmonary Arterial Hypertension |
Associate
|
36514015 |
Sarcoma Ewing |
Associate
|
26776507 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
36593250 |
|