Mouse anti-Human/Mouse/Rat sapiens (Human) HNRNPH1 Monoclonal Antibody

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)

Subcellular Location

Nucleus, nucleoplasm

Disease Association

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) : An autosomal dominant disorder characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic dysmorphic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed ubiquitously

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

• Honore B. et al. 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. — J. Biol. Chem. (1995)
• Ebert L. et al. Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201). (JUN-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Bienvenut W.V. et al. PubMed: CI-EVL4UHE0J772E (DEC-)
• Lubec G. et al. PubMed: CI-5JLPE8IQ42OFK (DEC-)
• Matunis M.J. et al. The hnRNP F protein: unique primary structure, nucleic acid-binding properties, and subcellular localization. — Nucleic Acids Res. (1994)