![]() Location: 39 → 184 HH_signal Hedgehog amino-terminal signalling domain Location: 187 → 448 Hint Hint module pfam01085 In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein. Location: 198 → 363 Hint Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. Status: REVIEWED Description Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). See identical proteins and their annotated locations for NP_000184.1 ![]() NM_000193.4 → NP_000184.1 sonic hedgehog protein isoform 1 preproprotein NG_007504.2 RefSeqGene Range 4811.17294 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 stomach (RPKM 3.1), urinary bladder (RPKM 2.9) and 10 other tissues See more Orthologs mouse all NEW Try the new Gene table Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. It is also thought that mutations in this gene or in its signalling pathway may be responsible for VACTERL syndrome, which is characterized by vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, cardiac anomalies, and limb abnormalities. Defects in this protein or in its signalling pathway are a cause of holoprosencephaly (HPE), a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the developing embryo. The protein is made as a precursor that is autocatalytically cleaved the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. ![]() Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. ![]() Full Name sonic hedgehog signaling molecule provided by HGNC Primary source HGNC:HGNC:10848 See related Ensembl:ENSG00000164690 MIM:600725 AllianceGenome:HGNC:10848 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 TPT HHG1 HLP3 HPE3 SMMCI ShhNC TPTPS MCOPCB5 Summary This gene encodes a protein that is instrumental in patterning the early embryo. ![]()
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