NC_000011.10 Reference GRCh38.p14 Primary Assembly Range 17493900.17544416 complement Download GenBank, FASTA, Sequence Viewer (Graphics) Reference GRCh38.p14 Primary Assembly Genomic Model RNAs and proteins are also reported here. RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternateĪssemblies. Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as The following sections contain reference sequences that belong to a This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). Status: REVIEWED Description Transcript Variant: This variant (4) has multiple differences compared to variant b3. Status: REVIEWED Description Transcript Variant: This variant (b3) encodes the longest isoform (b3). See identical proteins and their annotated locations for NP_710142.1 Location: 302 → 383 tolA_full TolA protein pfam03879 The resulting protein (isoform a) has a distinct C-terminus and is shorter than isoform b3. Status: REVIEWED Description Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. See identical proteins and their annotated locations for NP_005700.2 Location: 283 → 364 tolA_full TolA protein pfam03879 Location: 2 → 80 harmonin_N N-terminal protein-binding module of harmonin TIGR02794 May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal). Location: 85 → 165 PDZ_signaling PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. The resulting protein (isoform c) has a distinct C-terminus and is shorter than isoform b3. Status: REVIEWED Description Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant b3, one of which results in a translational frameshift. See identical proteins and their annotated locations for NP_001284693.1 NG_011883.2 RefSeqGene Range 5001.55517 Download GenBank, FASTA, Sequence Viewer (Graphics) This section to the one reported in Genomic regions, Identify version mismatches by comparing the version of the RefSeq in These reference sequences are curated independently of the genomeĪnnotation cycle, so their versions may not match the RefSeq versions in the current These reference sequences exist independently of genome builds. Expression Biased expression in small intestine (RPKM 13.7), duodenum (RPKM 13.0) and 6 other tissues See more Orthologs mouse all NEW Try the new Gene table Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Full Name USH1 protein network component harmonin provided by HGNC Primary source HGNC:HGNC:12597 See related Ensembl:ENSG00000006611 MIM:605242 AllianceGenome:HGNC:12597 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Haplorrhini Catarrhini Hominidae Homo Also known as PDZ73 AIE-75 DFNB18 PDZ-45 PDZ-73 PDZD7C DFNB18A NY-CO-37 NY-CO-38 ush1cpst PDZ-73/NY-CO-38 Summary This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes.
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