SHH sonic hedgehog signaling molecule [ Homo sapiens (human) ]

Gene ID: 6469, updated on 24-Nov-2020

Summary

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Official Symbol: SHHprovided by HGNC
Official Full Name: sonic hedgehog signaling moleculeprovided by HGNC
Primary source: HGNC:HGNC:10848
See related: Ensembl:ENSG00000164690 MIM:600725
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. 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. Of three human proteins showing sequence and functional similarity to the sonic hedgehog protein of Drosophila, this protein is the most similar. 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. 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. 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. HPE is manifested by facial deformities. 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. Additionally, mutations in a long range enhancer located approximately 1 megabase upstream of this gene disrupt limb patterning and can result in preaxial polydactyly. [provided by RefSeq, Jul 2008]
Expression: Biased expression in stomach (RPKM 3.1), urinary bladder (RPKM 2.9) and 10 other tissues See more
Orthologs: mouse all

Genomic context

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See SHH in Genome Data Viewer

Location:: 7q36.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (155799980..155812463, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (155595558..155604967, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Title: [Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios].
Sonic hedgehog connects podocyte injury to mesangial activation and glomerulosclerosis.
Title: Sonic hedgehog connects podocyte injury to mesangial activation and glomerulosclerosis.
SHH expression in placental tissues and trophoblast cell oxidative stress injury during preeclampsia.
Title: SHH expression in placental tissues and trophoblast cell oxidative stress injury during preeclampsia.
Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.
Title: Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.
High SHH expression is associated with Myelodysplastic Syndrome.
Title: Sonic hedgehog signaling pathway in Myelodysplastic Syndrome: Abnormal activation and jervine intervention.
IL-4/IL-13 upregulate SHH expression to induce allergic airway epithelial remodeling.
Title: IL-4/IL-13 upregulates Sonic hedgehog expression to induce allergic airway epithelial remodeling.
The results revealed that EIF5A regulated the proliferation of pancreatic cancer through the SHH signaling pathway while decreasing the gemcitabine sensitivity.
Title: EIF5A regulates proliferation and chemoresistance in pancreatic cancer through the sHH signalling pathway.
RAB family small GTP binding protein RAB 23 (Rab23) and ADP-ribosylation factor-like 13B (Arl13b) have been implicated in ciliopathy-associated human diseases and could regulate hedgehog proteins (Hh) signalling cascade in multifaceted manners [Review].
Title: Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.
SOX2-induced upregulation of lncRNA LINC01510 promotes papillary thyroid carcinoma progression by modulating miR-335/SHH and activating Hedgehog pathway
Title: SOX2-induced upregulation of lncRNA LINC01510 promotes papillary thyroid carcinoma progression by modulating miR-335/SHH and activating Hedgehog pathway.
tumor-derived SHH has a role in promoting tumor-associated macrophage M2 polarization, and in a mechanism for tumor-associated macrophage-mediated immunosuppression
Title: Hedgehog signaling promotes tumor-associated macrophage polarization to suppress intratumoral CD8+ T cell recruitment.

Submit: New GeneRIF Correction See all GeneRIFs (468)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. GeneReviews: Not available
Holoprosencephaly 3 MedGen: C1840529 OMIM: 142945 GeneReviews: Microphthalmia/Anophthalmia/Coloboma Spectrum, Holoprosencephaly Overview	Compare labs
Identification of a candidate gene for astigmatism. GeneReviews: Not available
Microphthalmia, isolated, with coloboma 5 MedGen: C1968843 OMIM: 611638 GeneReviews: Microphthalmia/Anophthalmia/Coloboma Spectrum	Compare labs
SCHIZENCEPHALY MedGen: C0266484 OMIM: 269160 GeneReviews: Not available	Compare labs
Solitary median maxillary central incisor syndrome MedGen: C1840235 OMIM: 147250 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated (2020-06-24) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated (2020-06-24) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH71367 (e-PCR)
- UniSTS:49423

GDB:456307 (e-PCR)
- UniSTS:157484

D7S550 (e-PCR)
- UniSTS:67923

Shh (e-PCR), detects polymorphism
- UniSTS:465494

Shh (e-PCR), detects polymorphism
- UniSTS:238169

D7S559 (e-PCR), detects polymorphism
- UniSTS:148075

RH69762 (e-PCR)
- UniSTS:9070

NoName (e-PCR)
- UniSTS:481236

Shh (e-PCR), detects polymorphism
- UniSTS:547824

Homology

Homologs of the SHH gene: The SHH gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 313 organisms have orthologs with human gene SHH
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
glycosaminoglycan binding	IEA Inferred from Electronic Annotation more info
laminin-1 binding	ISS Inferred from Sequence or Structural Similarity more info
morphogen activity	NAS Non-traceable Author Statement more info	PubMed
morphogen activity	TAS Traceable Author Statement more info	PubMed
patched binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
patched binding	IDA Inferred from Direct Assay more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
Bergmann glial cell differentiation	IEA Inferred from Electronic Annotation more info
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA Inferred from Direct Assay more info	PubMed
T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
androgen metabolic process	ISS Inferred from Sequence or Structural Similarity more info
animal organ formation	IEA Inferred from Electronic Annotation more info
apoptotic signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
artery development	IEA Inferred from Electronic Annotation more info
axon guidance	ISS Inferred from Sequence or Structural Similarity more info
blood coagulation	IEA Inferred from Electronic Annotation more info
branching involved in blood vessel morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
branching involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
branching morphogenesis of an epithelial tube	ISS Inferred from Sequence or Structural Similarity more info
bud outgrowth involved in lung branching	IEA Inferred from Electronic Annotation more info
camera-type eye development	IEA Inferred from Electronic Annotation more info
canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
cell development	ISS Inferred from Sequence or Structural Similarity more info
cell fate specification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
cellular response to lithium ion	IEA Inferred from Electronic Annotation more info
central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
cerebellar granule cell precursor proliferation	ISS Inferred from Sequence or Structural Similarity more info
determination of left/right asymmetry in lateral mesoderm	ISS Inferred from Sequence or Structural Similarity more info
dopaminergic neuron differentiation	TAS Traceable Author Statement more info	PubMed
dorsal/ventral neural tube patterning	IEA Inferred from Electronic Annotation more info
dorsal/ventral pattern formation	ISS Inferred from Sequence or Structural Similarity more info
ectoderm development	IEA Inferred from Electronic Annotation more info
embryonic digestive tract morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic digit morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic foregut morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
embryonic pattern specification	TAS Traceable Author Statement more info	PubMed
embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
endocytosis	IEA Inferred from Electronic Annotation more info
epithelial cell proliferation involved in salivary gland morphogenesis	IEA Inferred from Electronic Annotation more info
epithelial-mesenchymal signaling involved in prostate gland development	IDA Inferred from Direct Assay more info	PubMed
establishment of cell polarity	IEA Inferred from Electronic Annotation more info
forebrain development	ISS Inferred from Sequence or Structural Similarity more info
formation of anatomical boundary	IEA Inferred from Electronic Annotation more info
hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
heart development	ISS Inferred from Sequence or Structural Similarity more info
heart looping	ISS Inferred from Sequence or Structural Similarity more info
hindbrain development	ISS Inferred from Sequence or Structural Similarity more info
hindgut morphogenesis	IEA Inferred from Electronic Annotation more info
inner ear development	IEA Inferred from Electronic Annotation more info
intein-mediated protein splicing	IEA Inferred from Electronic Annotation more info
intermediate filament organization	IEA Inferred from Electronic Annotation more info
left lung development	IEA Inferred from Electronic Annotation more info
limb bud formation	IEA Inferred from Electronic Annotation more info
lung development	ISS Inferred from Sequence or Structural Similarity more info
lung epithelium development	IEA Inferred from Electronic Annotation more info
lung lobe morphogenesis	IEA Inferred from Electronic Annotation more info
lung-associated mesenchyme development	IEA Inferred from Electronic Annotation more info
lymphoid progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
male genitalia development	ISS Inferred from Sequence or Structural Similarity more info
mesenchymal cell proliferation involved in lung development	IEA Inferred from Electronic Annotation more info
mesenchymal smoothened signaling pathway involved in prostate gland development	IEA Inferred from Electronic Annotation more info
metanephric collecting duct development	IEP Inferred from Expression Pattern more info	PubMed
metanephric mesenchymal cell proliferation involved in metanephros development	ISS Inferred from Sequence or Structural Similarity more info
metanephros development	ISS Inferred from Sequence or Structural Similarity more info
midbrain development	ISS Inferred from Sequence or Structural Similarity more info
myoblast differentiation	IEA Inferred from Electronic Annotation more info
myotube differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
negative regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of dopaminergic neuron differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of kidney smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription elongation from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
negative regulation of ureter smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
negative thymic T cell selection	ISS Inferred from Sequence or Structural Similarity more info
neural crest cell migration	ISS Inferred from Sequence or Structural Similarity more info
neuroblast proliferation	ISS Inferred from Sequence or Structural Similarity more info
neuron fate commitment	ISS Inferred from Sequence or Structural Similarity more info
odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
oligodendrocyte development	IEA Inferred from Electronic Annotation more info
oligodendrocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
osteoblast development	IEA Inferred from Electronic Annotation more info
pancreas development	IEA Inferred from Electronic Annotation more info
pattern specification process	ISS Inferred from Sequence or Structural Similarity more info
polarity specification of anterior/posterior axis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of T cell differentiation in thymus	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of alpha-beta T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell division	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of epithelial cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
positive regulation of hh target transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of immature T cell proliferation in thymus	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of kidney smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of mesenchymal cell proliferation involved in ureter development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of neuroblast proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
positive regulation of sclerotome development	IDA Inferred from Direct Assay more info	PubMed
positive regulation of skeletal muscle cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
positive regulation of smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of striated muscle cell differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ureter smooth muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive thymic T cell selection	ISS Inferred from Sequence or Structural Similarity more info
primary prostatic bud elongation	IEA Inferred from Electronic Annotation more info
prostate epithelial cord elongation	IEA Inferred from Electronic Annotation more info
prostate gland development	ISS Inferred from Sequence or Structural Similarity more info
protein autoprocessing	IEA Inferred from Electronic Annotation more info
protein localization to nucleus	IEA Inferred from Electronic Annotation more info
regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of mesenchymal cell proliferation involved in prostate gland development	IEA Inferred from Electronic Annotation more info
regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS Non-traceable Author Statement more info	PubMed
regulation of odontogenesis	ISS Inferred from Sequence or Structural Similarity more info
regulation of prostatic bud formation	IEA Inferred from Electronic Annotation more info
regulation of protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
regulation of proteolysis	ISS Inferred from Sequence or Structural Similarity more info
right lung development	IEA Inferred from Electronic Annotation more info
roof of mouth development	IEA Inferred from Electronic Annotation more info
salivary gland cavitation	IEA Inferred from Electronic Annotation more info
smooth muscle tissue development	IEP Inferred from Expression Pattern more info	PubMed
smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
smoothened signaling pathway	IEP Inferred from Expression Pattern more info	PubMed
smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA Inferred from Electronic Annotation more info
somite development	ISS Inferred from Sequence or Structural Similarity more info
spinal cord dorsal/ventral patterning	IEA Inferred from Electronic Annotation more info
spinal cord motor neuron differentiation	IEA Inferred from Electronic Annotation more info
stem cell development	ISS Inferred from Sequence or Structural Similarity more info
striated muscle tissue development	IEA Inferred from Electronic Annotation more info
telencephalon regionalization	IEA Inferred from Electronic Annotation more info
thalamus development	IEA Inferred from Electronic Annotation more info
thymus development	ISS Inferred from Sequence or Structural Similarity more info
thyroid gland development	IEA Inferred from Electronic Annotation more info
trachea morphogenesis	IEA Inferred from Electronic Annotation more info
tracheoesophageal septum formation	IEA Inferred from Electronic Annotation more info
vasculogenesis	ISS Inferred from Sequence or Structural Similarity more info
ventral midline development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cell surface	ISS Inferred from Sequence or Structural Similarity more info
collagen-containing extracellular matrix	HDA more info	PubMed
cytosol	TAS Traceable Author Statement more info
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular space	IDA Inferred from Direct Assay more info	PubMed
extracellular space	ISS Inferred from Sequence or Structural Similarity more info
membrane raft	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sonic hedgehog protein

Names: shh unprocessed N-terminal signaling and C-terminal autoprocessing domains; sonic hedgehog homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007504.2 RefSeqGene

Range

4811..17294

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000193.4 → NP_000184.1 sonic hedgehog protein isoform 1 preproprotein

See identical proteins and their annotated locations for NP_000184.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC078834, BX109787, BX452210, BY797055, L38518

Consensus CDS

CCDS5942.1

UniProtKB/Swiss-Prot

Q15465

Related

ENSP00000297261.2, ENST00000297261.7

Conserved Domains (3) summary

cd00081
Location:198 → 363

Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...

pfam01079
Location:187 → 448

Hint; Hint module

pfam01085
Location:39 → 184

HH_signal; Hedgehog amino-terminal signalling domain
NM_001310462.2 → NP_001297391.1 sonic hedgehog protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. It encodes isoform 2 which has a shorter and distinct N-terminus and a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC078834, AI192528, AY927452, AY927455

Related

ENSP00000396621.1, ENST00000430104.5

Conserved Domains (1) summary

pfam01085
Location:12 → 97

HH_signal; Hedgehog amino-terminal signalling domain

RNA

NR_132318.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC078834, AI192528, AY927453, AY927454, L38518

Related

ENST00000441114.5
NR_132319.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC078834, AI192528, AY927453

Related

ENST00000435425.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p13 Primary Assembly

Range

155799980..155812463 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516479.2 → XP_011514781.1 sonic hedgehog protein isoform X1

See identical proteins and their annotated locations for XP_011514781.1

Conserved Domains (3) summary

cd00081
Location:111 → 276

Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...

pfam01079
Location:100 → 361

Hint; Hint module

pfam01085
Location:12 → 97

HH_signal; Hedgehog amino-terminal signalling domain
XM_011516480.2 → XP_011514782.1 sonic hedgehog protein isoform X1

See identical proteins and their annotated locations for XP_011514782.1

Conserved Domains (3) summary

cd00081
Location:111 → 276

Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...

pfam01079
Location:100 → 361

Hint; Hint module

pfam01085
Location:12 → 97

HH_signal; Hedgehog amino-terminal signalling domain