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

Gene ID: 6469, updated on 28-Nov-2021

Summary

Go to the top of the page Help

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help

See SHH in Genome Data Viewer

Location:: 7q36.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109.20211119	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (155799980..155812463, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (155592674..155605157, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of the Hedgehog Pathway in Chemoresistance of Gastrointestinal Cancers.
Title: The Role of the Hedgehog Pathway in Chemoresistance of Gastrointestinal Cancers.
SHH-N non-canonically sustains androgen receptor activity in androgen-independent prostate cancer cells.
Title: SHH-N non-canonically sustains androgen receptor activity in androgen-independent prostate cancer cells.
SHH Expression Is Significantly Associated With Cancer Stem Cell Markers in Oral Squamous Cell Carcinoma.
Title: SHH Expression Is Significantly Associated With Cancer Stem Cell Markers in Oral Squamous Cell Carcinoma.
Signaling in the primary cilium through the lens of the Hedgehog pathway.
Title: Signaling in the primary cilium through the lens of the Hedgehog pathway.
Analysis of the occurrence and distribution of primary and recurrent basal cell carcinoma of head and neck coupled to the assessment of tumor microenvironment and Sonic hedgehog signaling.
Title: Analysis of the occurrence and distribution of primary and recurrent basal cell carcinoma of head and neck coupled to the assessment of tumor microenvironment and Sonic hedgehog signaling.
The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.
Title: The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.
PHF19 activates hedgehog signaling and promotes tumorigenesis in hepatocellular carcinoma.
Title: PHF19 activates hedgehog signaling and promotes tumorigenesis in hepatocellular carcinoma.
Integrated molecular analysis of adult sonic hedgehog (SHH)-activated medulloblastomas reveals two clinically relevant tumor subsets with VEGFA as potent prognostic indicator.
Title: Integrated molecular analysis of adult sonic hedgehog (SHH)-activated medulloblastomas reveals two clinically relevant tumor subsets with VEGFA as potent prognostic indicator.
NKX6-1 mediates cancer stem-like properties and regulates sonic hedgehog signaling in leiomyosarcoma.
Title: NKX6-1 mediates cancer stem-like properties and regulates sonic hedgehog signaling in leiomyosarcoma.
Perillyl alcohol for pediatric TP53- and RAS-mutated SHH-medulloblastoma: an in vitro and in vivo translational pre-clinical study.
Title: Perillyl alcohol for pediatric TP53- and RAS-mutated SHH-medulloblastoma: an in vitro and in vivo translational pre-clinical study.

Submit: New GeneRIF Correction See all GeneRIFs (507)

Phenotypes

Go to the top of the page Help

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: Holoprosencephaly Overview	Compare labs
Identification of a candidate gene for astigmatism. GeneReviews: Not available
Microphthalmia, isolated, with coloboma 5 MedGen: C1968843 OMIM: 611638 GeneReviews: Not available	Compare labs
Schizencephaly MedGen: C0266484 OMIM: 269160 GeneReviews: Not available	Compare labs
Solitary median maxillary central incisor 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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 399 organisms have orthologs with human gene SHH
Orthologs

Gene Ontology Provided by GOA

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

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

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

General protein information

Go to the top of the page Help

Preferred Names: sonic hedgehog protein

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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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 109.20211119

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