Human Gene HHIP (ENST00000296575.8_4) from GENCODE V47lift37
  Description: hedgehog interacting protein (from RefSeq NM_022475.3)
Gencode Transcript: ENST00000296575.8_4
Gencode Gene: ENSG00000164161.10_7
Transcript (Including UTRs)
   Position: hg19 chr4:145,567,308-145,666,423 Size: 99,116 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr4:145,567,828-145,659,109 Size: 91,282 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:145,567,308-145,666,423)mRNA (may differ from genome)Protein (700 aa)
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-  Comments and Description Text from UniProtKB
  ID: HHIP_HUMAN
DESCRIPTION: RecName: Full=Hedgehog-interacting protein; Short=HHIP; Short=HIP; Flags: Precursor;
FUNCTION: Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.
SUBUNIT: Interacts with all three hedgehog family members, SHH, IHH and DHH.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein (By similarity). Secreted (By similarity). Note=The last 22 C- terminal amino acids may participate in cell membrane attachment.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm (Probable).
TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney.
DOMAIN: A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding.
POLYMORPHISM: Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIM:612226]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits.
SIMILARITY: Belongs to the HHIP family.
SIMILARITY: Contains 2 EGF-like domains.
SEQUENCE CAUTION: Sequence=BAB14945.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HHIP
Diseases sorted by gene-association score: chondrodysplasia, blomstrand type (12), basal cell carcinoma (7), metaphyseal chondrodysplasia, murk jansen type (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.72 RPKM in Brain - Hippocampus
Total median expression: 33.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -143.70520-0.276 Picture PostScript Text
3' UTR -1663.807314-0.227 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR018143 - Folate_rcpt-like
IPR012938 - Glc/Sorbosone_DH
IPR011041 - Quinoprot_gluc/sorb_DH

Pfam Domains:
PF03024 - Folate receptor family
PF07995 - Glucose / Sorbosone dehydrogenase

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
63829 - Calcium-dependent phosphotriesterase
101898 - NHL repeat
57196 - EGF/Laminin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2WFT - X-ray MuPIT 2WFX - X-ray MuPIT 2WG3 - X-ray MuPIT 2WG4 - X-ray MuPIT 3HO3 - X-ray MuPIT 3HO4 - X-ray MuPIT 3HO5 - X-ray


ModBase Predicted Comparative 3D Structure on Q96QV1
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0046872 metal ion binding
GO:0097108 hedgehog family protein binding

Biological Process:
GO:0007165 signal transduction
GO:0007224 smoothened signaling pathway
GO:0007405 neuroblast proliferation
GO:0009887 animal organ morphogenesis
GO:0009953 dorsal/ventral pattern formation
GO:0009968 negative regulation of signal transduction
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway
GO:0043066 negative regulation of apoptotic process
GO:0045879 negative regulation of smoothened signaling pathway
GO:0048705 skeletal system morphogenesis
GO:0060441 epithelial tube branching involved in lung morphogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  AY009951 - Homo sapiens hedgehog-interacting protein mRNA, complete cds.
AY358747 - Homo sapiens clone DNA139592 HIP (UNQ5825) mRNA, complete cds.
AY009317 - Homo sapiens hedgehog-interacting protein (HHIP) mRNA, complete cds.
BC025311 - Homo sapiens hedgehog interacting protein, mRNA (cDNA clone MGC:39295 IMAGE:4122618), complete cds.
AK291849 - Homo sapiens cDNA FLJ77575 complete cds, highly similar to Homo sapiens hedgehog interacting protein (HHIP), mRNA.
AB385039 - Synthetic construct DNA, clone: pF1KB5103, Homo sapiens HHIP gene for hedgehog-interacting protein precursor, complete cds, without stop codon, in Flexi system.
DQ893618 - Synthetic construct clone IMAGE:100006248; FLH183739.01X; RZPDo839G01142D hedgehog interacting protein (HHIP) gene, encodes complete protein.
JD065984 - Sequence 47008 from Patent EP1572962.
BC015636 - Homo sapiens hedgehog interacting protein, mRNA (cDNA clone IMAGE:4139148), partial cds.
BC009298 - Homo sapiens hedgehog interacting protein, mRNA (cDNA clone IMAGE:4123868), partial cds.
JD442877 - Sequence 423901 from Patent EP1572962.
JD140916 - Sequence 121940 from Patent EP1572962.
JD417054 - Sequence 398078 from Patent EP1572962.
JD494916 - Sequence 475940 from Patent EP1572962.
JD132766 - Sequence 113790 from Patent EP1572962.
JD418640 - Sequence 399664 from Patent EP1572962.
JD150436 - Sequence 131460 from Patent EP1572962.
AK074711 - Homo sapiens cDNA FLJ90230 fis, clone NT2RM2000410.
JD398076 - Sequence 379100 from Patent EP1572962.
JD548257 - Sequence 529281 from Patent EP1572962.
JD423128 - Sequence 404152 from Patent EP1572962.
JD111681 - Sequence 92705 from Patent EP1572962.
AX810691 - Sequence 15 from Patent EP1333092.
JD461470 - Sequence 442494 from Patent EP1572962.
JD456956 - Sequence 437980 from Patent EP1572962.
AX810716 - Sequence 40 from Patent EP1333092.
AK098525 - Homo sapiens cDNA FLJ25659 fis, clone TST00427, highly similar to Mus musculus hedgehog-interacting protein (Hip) mRNA.
AK024645 - Homo sapiens cDNA: FLJ20992 fis, clone CAE02114.
JD036539 - Sequence 17563 from Patent EP1572962.
JD229270 - Sequence 210294 from Patent EP1572962.
JD549639 - Sequence 530663 from Patent EP1572962.
JD333601 - Sequence 314625 from Patent EP1572962.
JD146072 - Sequence 127096 from Patent EP1572962.
JD232263 - Sequence 213287 from Patent EP1572962.
AK124396 - Homo sapiens cDNA FLJ42405 fis, clone ASTRO3000474.
BC022055 - Homo sapiens, clone IMAGE:4690669, mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96QV1 (Reactome details) participates in the following event(s):

R-HSA-445448 HHIP binds Hedgehog
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000296575.1, ENST00000296575.2, ENST00000296575.3, ENST00000296575.4, ENST00000296575.5, ENST00000296575.6, ENST00000296575.7, HHIP_HUMAN, HIP, NM_022475, Q6PK09, Q8NCI7, Q96QV1, Q9BXK3, Q9H1J4, Q9H7E7, uc317lvb.1, uc317lvb.2, UNQ5825/PRO19644
UCSC ID: ENST00000296575.8_4
RefSeq Accession: NM_022475.3
Protein: Q96QV1 (aka HHIP_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.