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

    Gene ID: 50846, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:2865
    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
    GDMN; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DHH in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49086656..49094801, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49048829..49056982, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49480439..49488584, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DDN and PRKAG1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6302 Neighboring gene lysine methyltransferase 2D Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:49442744-49443943 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49443977-49444477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4422 Neighboring gene Sharpr-MPRA regulatory region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6305 Neighboring gene RHEB like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6307 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49485416-49485598 Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene limb development membrane protein 1 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49503799-49504338 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49505196-49505376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521461-49521962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521963-49522462 Neighboring gene Sharpr-MPRA regulatory region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4425 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC35145

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables patched binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables patched binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 Leydig cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male sex determination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation 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 protein autoprocessing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in self proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    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

    1. NG_008973.2 RefSeqGene

      Range
      5019..13164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1273

    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, Q15794
      UniProtKB/TrEMBL
      B2R8G3, F6KSZ4
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017019380.2XP_016874869.1  desert hedgehog protein isoform X1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49048829..49056982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372156.1XP_054228131.1  desert hedgehog protein isoform X1

    2. XM_054372157.1XP_054228132.1  desert hedgehog protein isoform X2