Description: Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), transcript variant 2, mRNA. RefSeq Summary (NM_005520): 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]. Transcript (Including UTRs) Position: hg19 chr5:179,041,179-179,050,722 Size: 9,544 Total Exon Count: 14 Strand: - Coding Region Position: hg19 chr5:179,042,547-179,050,134 Size: 7,588 Coding Exon Count: 12
ID:HNRH1_HUMAN DESCRIPTION: RecName: Full=Heterogeneous nuclear ribonucleoprotein H; Short=hnRNP H; Contains: RecName: Full=Heterogeneous nuclear ribonucleoprotein H, N-terminally processed; 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). 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. SUBCELLULAR LOCATION: Nucleus, nucleoplasm. TISSUE SPECIFICITY: Expressed ubiquitously. INDUCTION: Up-regulated in myotonic dystrophy pathophysiology (DM). 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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P31943
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC001348 - Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H), mRNA (cDNA clone MGC:8619 IMAGE:2961378), complete cds. GQ901012 - Homo sapiens clone HEL-T-124 epididymis secretory sperm binding protein mRNA, complete cds. CR749414 - Homo sapiens mRNA; cDNA DKFZp686A15170 (from clone DKFZp686A15170). L22009 - Human hnRNP H mRNA, complete cds. AK124530 - Homo sapiens cDNA FLJ42539 fis, clone BRACE3004150, highly similar to Heterogeneous nuclear ribonucleoprotein H. BX647205 - Homo sapiens mRNA; cDNA DKFZp686D2162 (from clone DKFZp686D2162). AK092273 - Homo sapiens cDNA FLJ34954 fis, clone NTONG2002582, highly similar to HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H. AK298193 - Homo sapiens cDNA FLJ54533 complete cds, highly similar to Heterogeneous nuclear ribonucleoprotein H. AB527868 - Synthetic construct DNA, clone: pF1KB0419, Homo sapiens HNRNPH1 gene for heterogeneous nuclear ribonucleoprotein H1, without stop codon, in Flexi system. AK311021 - Homo sapiens cDNA, FLJ18063. KJ891373 - Synthetic construct Homo sapiens clone ccsbBroadEn_00767 HNRNPH1 gene, encodes complete protein. CR456778 - Homo sapiens full open reading frame cDNA clone RZPDo834F084D for gene HNRPH1, heterogeneous nuclear ribonucleoprotein H1 (H); complete cds, incl. stopcodon. AK307693 - Homo sapiens cDNA, FLJ97641. JD518314 - Sequence 499338 from Patent EP1572962. JD494910 - Sequence 475934 from Patent EP1572962. JD349421 - Sequence 330445 from Patent EP1572962. DJ418574 - Methods and Compositions for the Specific Inhibition of Gene Expression by Double-Stranded RNA. HI503955 - Sequence 88 from Patent EP2155772. HV578814 - JP 2010525813-A/88: Methods and Compositions for the Specific Inhibition of Gene Expression by Double-Stranded RNA. JB155089 - Sequence 88 from Patent EP2514758. JD019286 - Sequence 310 from Patent EP1572962. JD028022 - Sequence 9046 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P31943 (Reactome details) participates in the following event(s):
R-HSA-72103 Formation of pre-mRNPs R-HSA-72107 Formation of the Spliceosomal E complex R-HSA-72124 Formation of the Spliceosomal A Complex R-HSA-72127 Formation of the Spliceosomal B Complex R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-6803527 ESRP1 and 2 bind FGFR2 pre-mRNA to promote FGFR2b maturation and expression R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-156661 Formation of Exon Junction Complex R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-6803529 FGFR2 alternative splicing R-HSA-8953854 Metabolism of RNA R-HSA-72172 mRNA Splicing R-HSA-5654738 Signaling by FGFR2 R-HSA-190236 Signaling by FGFR R-HSA-9006934 Signaling by Receptor Tyrosine Kinases R-HSA-162582 Signal Transduction
US Server
