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HHIP hedgehog interacting protein [ Homo sapiens (human) ]

Gene ID: 64399, updated on 20-Jan-2019

Summary

Official Symbol
HHIPprovided by HGNC
Official Full Name
hedgehog interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:14866
See related
Ensembl:ENSG00000164161 MIM:606178
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
HIP
Summary
This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
Expression
Biased expression in lung (RPKM 8.1), brain (RPKM 4.1) and 12 other tissues See more
Orthologs

Genomic context

See HHIP in Genome Data Viewer
Location:
4q31.21
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (144645996..144740705)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (145567148..145662542)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377462 Neighboring gene VISTA enhancer hs906 Neighboring gene keratin 18 pseudogene 51 Neighboring gene HHIP antisense RNA 1 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 5 Neighboring gene anaphase promoting complex subunit 10 Neighboring gene RNA, 7SK small nuclear pseudogene 235

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
NHGRI GWA Catalog
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
NHGRI GWA Catalog
A genome-wide association study of pulmonary function measures in the Framingham Heart Study.
NHGRI GWA Catalog
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
NHGRI GWA Catalog
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association study identifies five loci associated with lung function.
NHGRI GWA Catalog
Genome-wide association study of height and body mass index in Australian twin families.
NHGRI GWA Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
NHGRI GWA Catalog
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with HHIP; predicted interaction to be relevant to viral egress at plasma membrane/extracellular matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • 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 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...
  • 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...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • 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 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
  • cAMP signaling pathway, organism-specific biosystem (from KEGG)
    cAMP signaling pathway, organism-specific biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...
  • cAMP signaling pathway, conserved biosystem (from KEGG)
    cAMP signaling pathway, conserved biosystemcAMP is one of the most common and universal second messengers, and its formation is promoted by adenylyl cyclase (AC) activation after ligation of G protein-coupled receptors (GPCRs) by ligands incl...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20992, FLJ90230

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
hedgehog family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hedgehog family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smoothened signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of fibroblast growth factor receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
skeletal system morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell surface IEA
Inferred from Electronic Annotation
more info
 
ciliary membrane TAS
Traceable Author Statement
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
hedgehog-interacting protein

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_011496.1 RefSeqGene

    Range
    4976..97709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022475.3NP_071920.1  hedgehog-interacting protein precursor

    See identical proteins and their annotated locations for NP_071920.1

    Status: REVIEWED

    Source sequence(s)
    AC098588, AY009951, BC025311
    Consensus CDS
    CCDS3762.1
    UniProtKB/Swiss-Prot
    Q96QV1
    Related
    ENSP00000296575.3, ENST00000296575.7
    Conserved Domains (2) summary
    pfam03024
    Location:38220
    Folate_rec; Folate receptor family
    pfam07995
    Location:226428
    GSDH; Glucose / Sorbosone dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    144645996..144740705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263178.5XP_005263235.1  hedgehog-interacting protein isoform X1

    Conserved Domains (2) summary
    pfam03024
    Location:38220
    Folate_rec; Folate receptor family
    pfam07995
    Location:226428
    GSDH; Glucose / Sorbosone dehydrogenase
  2. XM_006714288.4XP_006714351.1  hedgehog-interacting protein isoform X2

    Conserved Domains (2) summary
    pfam03024
    Location:38220
    Folate_rec; Folate receptor family
    pfam07995
    Location:226428
    GSDH; Glucose / Sorbosone dehydrogenase
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