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DHH desert hedgehog signaling molecule [ Homo sapiens (human) ]

Gene ID: 50846, updated on 14-Oct-2019

Summary

Official Symbol
DHHprovided by HGNC
Official Full Name
desert hedgehog signaling moleculeprovided by HGNC
Primary source
HGNC:HGNC:2865
See related
Ensembl:ENSG00000139549 MIM:605423
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
GDXYM; HHG-3; SRXY7
Summary
This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be 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 organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
Expression
Biased expression in testis (RPKM 5.9) and appendix (RPKM 0.3) See more
Orthologs

Genomic context

See DHH in Genome Data Viewer
Location:
12q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (49086656..49094801, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49483204..49488602, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DDN and PRKAG1 antisense RNA 1 Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene lysine methyltransferase 2D Neighboring gene RHEB like 1 Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene limb development membrane protein 1 like Neighboring gene Sharpr-MPRA regulatory region 3992 Neighboring gene tubulin alpha 1b

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Activation of SMO, organism-specific biosystem (from REACTOME)
    Activation of SMO, organism-specific biosystemActivation of the transmembrane protein SMO in response to Hh stimulation is a major control point in the Hh signaling pathway (reviewed in Ayers and Therond, 2010; Jiang and Hui, 2008). In the absen...
  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • HHAT G278V abrogates palmitoylation of Hh-Np, organism-specific biosystem (from REACTOME)
    HHAT G278V abrogates palmitoylation of Hh-Np, organism-specific biosystemA loss-of-function mutation in HHAT that abrogates palmitoylation of Hh ligand is associated with Syndromic 46, XY Disorder of Sex Development, which results in testis dysgenesis (Callier et al, 2014...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
  • Hedgehog ligand biogenesis, organism-specific biosystem (from REACTOME)
    Hedgehog ligand biogenesis, organism-specific biosystemMammalian genomes encode three Hedgehog ligands, Sonic Hedgehog (SHH), Indian Hedgehog (IHH) and Desert Hedgehog (DHH). These secreted morphogens can remain associated with lipid rafts on the surfac...
  • Hedgehog signaling, organism-specific biosystem (from KEGG)
    Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling, conserved biosystem (from KEGG)
    Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hh mutants abrogate ligand secretion, organism-specific biosystem (from REACTOME)
    Hh mutants abrogate ligand secretion, organism-specific biosystemHh signaling is required for a number of developmental processes, and mutations that disrupt the normal processing and biogenesis of Hh ligand can result in neonatal abnormalities. SHH is one of a n...
  • Ligand-receptor interactions, organism-specific biosystem (from REACTOME)
    Ligand-receptor interactions, organism-specific biosystemRepression of Hh signaling in the absence of ligand depends on the transmembrane receptor protein Patched (PTCH), which inhibits Smoothened (SMO) activity by an unknown mechanism. This promotes the p...
  • Release of Hh-Np from the secreting cell, organism-specific biosystem (from REACTOME)
    Release of Hh-Np from the secreting cell, organism-specific biosystemCholesterol and palmitoyl-modification of Hh-Np render the ligand highly hydrophobic and results in its close association with the plasma membrane of the producing cell after secretion. Hh-Np tether...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • Signaling events mediated by the Hedgehog family, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by the Hedgehog family, organism-specific biosystem
    Signaling events mediated by the Hedgehog family

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35145

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 
patched binding IBA
Inferred from Biological aspect of Ancestor
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
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling IEA
Inferred from Electronic Annotation
more info
 
male sex determination IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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

  1. NG_008973.2 RefSeqGene

    Range
    5019..13164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021044.4NP_066382.1  desert hedgehog protein preproprotein

    See identical proteins and their annotated locations for NP_066382.1

    Status: REVIEWED

    Source sequence(s)
    AC011603, AW182088, BC033507
    Consensus CDS
    CCDS8779.1
    UniProtKB/Swiss-Prot
    O43323
    Related
    ENSP00000497483.1, ENST00000649637.2
    Conserved Domains (2) summary
    pfam01079
    Location:188395
    Hint; Hint module
    pfam01085
    Location:40185
    HH_signal; Hedgehog amino-terminal signalling domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    49086656..49094801 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019380.1XP_016874869.1  desert hedgehog protein isoform X1

  2. XM_017019381.1XP_016874870.1  desert hedgehog protein isoform X2

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