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Q14623

- IHH_HUMAN

UniProt

Q14623 - IHH_HUMAN

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Protein

Indian hedgehog protein

Gene

IHH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity).By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi94 – 941Calcium 1
Metal bindingi95 – 951Calcium 1
Metal bindingi95 – 951Calcium 2
Metal bindingi100 – 1001Calcium 1
Metal bindingi130 – 1301Calcium 1; via carbonyl oxygen
Metal bindingi131 – 1311Calcium 1
Metal bindingi131 – 1311Calcium 2
Metal bindingi134 – 1341Calcium 2
Metal bindingi136 – 1361Calcium 2
Metal bindingi145 – 1451Zinc
Metal bindingi152 – 1521Zinc
Metal bindingi187 – 1871Zinc
Sitei202 – 2032Cleavage; by autolysisBy similarity
Sitei248 – 2481Involved in cholesterol transferBy similarity
Sitei272 – 2721Involved in auto-cleavageBy similarity
Sitei275 – 2751Essential for auto-cleavageBy similarity

GO - Molecular functioni

  1. calcium ion binding Source: UniProtKB
  2. patched binding Source: UniProtKB
  3. peptidase activity Source: UniProtKB-KW

GO - Biological processi

  1. bone resorption Source: Ensembl
  2. camera-type eye photoreceptor cell fate commitment Source: Ensembl
  3. cartilage development Source: Ensembl
  4. cell-cell signaling Source: InterPro
  5. cell fate specification Source: Ensembl
  6. cell maturation Source: Ensembl
  7. chondrocyte proliferation Source: Ensembl
  8. embryonic camera-type eye morphogenesis Source: Ensembl
  9. embryonic digestive tract morphogenesis Source: Ensembl
  10. embryonic pattern specification Source: Ensembl
  11. embryonic skeletal joint development Source: Ensembl
  12. epithelial cell-cell adhesion Source: Ensembl
  13. epithelial cell morphogenesis Source: Ensembl
  14. head morphogenesis Source: Ensembl
  15. heart looping Source: BHF-UCL
  16. intein-mediated protein splicing Source: InterPro
  17. in utero embryonic development Source: Ensembl
  18. maternal process involved in female pregnancy Source: Ensembl
  19. multicellular organism growth Source: Ensembl
  20. negative regulation of alpha-beta T cell differentiation Source: BHF-UCL
  21. negative regulation of apoptotic process Source: Ensembl
  22. negative regulation of eye pigmentation Source: Ensembl
  23. negative regulation of immature T cell proliferation in thymus Source: BHF-UCL
  24. negative regulation of signal transduction Source: Ensembl
  25. negative regulation of T cell differentiation in thymus Source: BHF-UCL
  26. neuron development Source: Ensembl
  27. osteoblast differentiation Source: Ensembl
  28. pancreas development Source: Ensembl
  29. patterning of blood vessels Source: Ensembl
  30. positive regulation of alpha-beta T cell differentiation Source: BHF-UCL
  31. positive regulation of chondrocyte differentiation Source: Ensembl
  32. positive regulation of collagen biosynthetic process Source: Ensembl
  33. positive regulation of epithelial cell proliferation Source: Ensembl
  34. positive regulation of mesenchymal cell proliferation Source: Ensembl
  35. positive regulation of smoothened signaling pathway Source: BHF-UCL
  36. positive regulation of T cell differentiation in thymus Source: BHF-UCL
  37. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  38. proteoglycan metabolic process Source: Ensembl
  39. regulation of growth Source: Ensembl
  40. response to estradiol Source: Ensembl
  41. retinal pigment epithelium development Source: Ensembl
  42. skeletal system development Source: UniProtKB
  43. smoothened signaling pathway Source: UniProtKB
  44. smooth muscle tissue development Source: Ensembl
  45. somite development Source: BHF-UCL
  46. vitelline membrane formation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Hydrolase, Protease

Keywords - Ligandi

Calcium, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_18372. Class B/2 (Secretin family receptors).
SignaLinkiQ14623.

Protein family/group databases

MEROPSiC46.003.

Names & Taxonomyi

Protein namesi
Recommended name:
Indian hedgehog protein
Short name:
IHH
Alternative name(s):
HHG-2
Cleaved into the following 2 chains:
Gene namesi
Name:IHH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:5956. IHH.

Subcellular locationi

Chain Indian hedgehog protein N-product : Cell membrane By similarity; Lipid-anchor By similarity; Extracellular side By similarity
Note: The N-terminal peptide remains associated with the cell surface.By similarity
Chain Indian hedgehog protein C-product : Secretedextracellular space By similarity
Note: The C-terminal peptide diffuses from the cell.By similarity
Cell membrane 1 Publication

GO - Cellular componenti

  1. extracellular matrix Source: Ensembl
  2. extracellular region Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Brachydactyly A1 (BDA1) [MIM:112500]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti95 – 951E → K in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015982
Natural varianti100 – 1001D → E in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015983
Natural varianti100 – 1001D → N in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
Corresponds to variant rs28936377 [ dbSNP | Ensembl ].
VAR_015984
Natural varianti131 – 1311E → K in BDA1; no effect on the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015985
Acrocapitofemoral dysplasia (ACFD) [MIM:607778]: A disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461P → L in ACFD. 1 Publication
VAR_015981
Natural varianti190 – 1901V → A in ACFD. 1 Publication
VAR_015986

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi95 – 951E → G: Increases the lysosomal degradation of the indian hedgehog protein N-product. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi112500. phenotype.
607778. phenotype.
Orphaneti63446. Acrocapitofemoral dysplasia.
93388. Brachydactyly type A1.
PharmGKBiPA29769.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727CuratedAdd
BLAST
Chaini28 – 411384Indian hedgehog proteinPRO_0000013229Add
BLAST
Chaini28 – 202175Indian hedgehog protein N-productPRO_0000013230Add
BLAST
Chaini203 – 411209Indian hedgehog protein C-productPRO_0000013231Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi28 – 281N-palmitoyl cysteine1 Publication
Lipidationi202 – 2021Cholesterol glycine esterBy similarity
Glycosylationi282 – 2821N-linked (GlcNAc...)1 Publication

Post-translational modificationi

The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity).By similarity
Cholesterylation is required for N-product targeting to lipid rafts and multimerization.1 Publication
Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity.2 Publications

Keywords - PTMi

Autocatalytic cleavage, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

MaxQBiQ14623.
PaxDbiQ14623.
PeptideAtlasiQ14623.
PRIDEiQ14623.

Expressioni

Tissue specificityi

Expressed in embryonic lung, and in adult kidney and liver.

Gene expression databases

BgeeiQ14623.
CleanExiHS_IHH.
ExpressionAtlasiQ14623. baseline and differential.
GenevestigatoriQ14623.

Organism-specific databases

HPAiCAB009211.

Interactioni

Subunit structurei

Homooligomer (indian hedgehog protein N-product). Interacts with BOC and CDON. Interacts with PTCH1.2 Publications

Protein-protein interaction databases

BioGridi109765. 3 interactions.
IntActiQ14623. 1 interaction.
STRINGi9606.ENSP00000295731.

Structurei

Secondary structure

1
411
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi52 – 565
Turni61 – 644
Beta strandi73 – 753
Helixi76 – 805
Beta strandi89 – 913
Beta strandi96 – 983
Helixi99 – 1013
Helixi105 – 12117
Beta strandi127 – 1315
Helixi144 – 1474
Beta strandi150 – 1556
Helixi160 – 1623
Helixi163 – 17210
Beta strandi176 – 1827
Beta strandi185 – 1895
Beta strandi193 – 1953

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3K7GX-ray1.50B28-202[»]
3K7HX-ray1.50B28-202[»]
3K7IX-ray1.44B28-202[»]
3K7JX-ray1.90B28-202[»]
3N1FX-ray1.60A/B29-193[»]
3N1MX-ray1.69B29-193[»]
3N1OX-ray2.55A/B/C29-193[»]
3N1PX-ray2.70B29-193[»]
ProteinModelPortaliQ14623.
SMRiQ14623. Positions 41-197, 203-349.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14623.

Family & Domainsi

Domaini

The indian hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is essential for protein-protein interactions mediated by this domain.2 Publications

Sequence similaritiesi

Belongs to the hedgehog family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG250647.
GeneTreeiENSGT00390000001117.
HOGENOMiHOG000233428.
HOVERGENiHBG005480.
InParanoidiQ14623.
KOiK11989.
OMAiPGEGVHW.
OrthoDBiEOG779NZ5.
PhylomeDBiQ14623.
TreeFamiTF106458.

Family and domain databases

Gene3Di2.170.16.10. 1 hit.
3.30.1380.10. 1 hit.
InterProiIPR001657. Hedgehog.
IPR028992. Hedgehog/Intein_dom.
IPR009045. Hedgehog_sig/DD-Pept_Zn-bd_dom.
IPR000320. Hedgehog_signalling_dom.
IPR001767. Hint_dom.
IPR003586. Hint_dom_C.
IPR003587. Hint_dom_N.
IPR006141. Intein_splice_site.
[Graphical view]
PfamiPF01085. HH_signal. 1 hit.
PF01079. Hint. 1 hit.
[Graphical view]
PIRSFiPIRSF009400. Peptidase_C46. 1 hit.
PRINTSiPR00632. SONICHHOG.
SMARTiSM00305. HintC. 1 hit.
SM00306. HintN. 1 hit.
[Graphical view]
SUPFAMiSSF51294. SSF51294. 1 hit.
SSF55166. SSF55166. 1 hit.
PROSITEiPS50817. INTEIN_N_TER. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q14623-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSPARLRPRL HFCLVLLLLL VVPAAWGCGP GRVVGSRRRP PRKLVPLAYK
60 70 80 90 100
QFSPNVPEKT LGASGRYEGK IARSSERFKE LTPNYNPDII FKDEENTGAD
110 120 130 140 150
RLMTQRCKDR LNSLAISVMN QWPGVKLRVT EGWDEDGHHS EESLHYEGRA
160 170 180 190 200
VDITTSDRDR NKYGLLARLA VEAGFDWVYY ESKAHVHCSV KSEHSAAAKT
210 220 230 240 250
GGCFPAGAQV RLESGARVAL SAVRPGDRVL AMGEDGSPTF SDVLIFLDRE
260 270 280 290 300
PHRLRAFQVI ETQDPPRRLA LTPAHLLFTA DNHTEPAARF RATFASHVQP
310 320 330 340 350
GQYVLVAGVP GLQPARVAAV STHVALGAYA PLTKHGTLVV EDVVASCFAA
360 370 380 390 400
VADHHLAQLA FWPLRLFHSL AWGSWTPGEG VHWYPQLLYR LGRLLLEEGS
410
FHPLGMSGAG S
Length:411
Mass (Da):45,251
Last modified:July 19, 2003 - v4
Checksum:i4DA90C83F5ABF758
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti100 – 1001D → R in AAA62178. (PubMed:7590746)Curated
Sequence conflicti246 – 2461F → L in BAA33523. 1 PublicationCurated
Sequence conflicti309 – 3091V → A in BAA33523. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461P → L in ACFD. 1 Publication
VAR_015981
Natural varianti95 – 951E → K in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015982
Natural varianti100 – 1001D → E in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015983
Natural varianti100 – 1001D → N in BDA1; decreases the stability of the indian hedgehog protein N-product. 1 Publication
Corresponds to variant rs28936377 [ dbSNP | Ensembl ].
VAR_015984
Natural varianti131 – 1311E → K in BDA1; no effect on the stability of the indian hedgehog protein N-product. 1 Publication
VAR_015985
Natural varianti190 – 1901V → A in ACFD. 1 Publication
VAR_015986

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB018076 Genomic DNA. Translation: BAA33523.2.
CH471063 Genomic DNA. Translation: EAW70675.1.
BC034757 mRNA. Translation: AAH34757.2.
BC136587 mRNA. Translation: AAI36588.1.
BC136588 mRNA. Translation: AAI36589.1.
L38517 mRNA. Translation: AAA62178.1.
CCDSiCCDS33380.1.
RefSeqiNP_002172.2. NM_002181.3.
UniGeneiHs.654504.

Genome annotation databases

EnsembliENST00000295731; ENSP00000295731; ENSG00000163501.
GeneIDi3549.
KEGGihsa:3549.
UCSCiuc002vjo.2. human.

Polymorphism databases

DMDMi33112634.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB018076 Genomic DNA. Translation: BAA33523.2 .
CH471063 Genomic DNA. Translation: EAW70675.1 .
BC034757 mRNA. Translation: AAH34757.2 .
BC136587 mRNA. Translation: AAI36588.1 .
BC136588 mRNA. Translation: AAI36589.1 .
L38517 mRNA. Translation: AAA62178.1 .
CCDSi CCDS33380.1.
RefSeqi NP_002172.2. NM_002181.3.
UniGenei Hs.654504.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3K7G X-ray 1.50 B 28-202 [» ]
3K7H X-ray 1.50 B 28-202 [» ]
3K7I X-ray 1.44 B 28-202 [» ]
3K7J X-ray 1.90 B 28-202 [» ]
3N1F X-ray 1.60 A/B 29-193 [» ]
3N1M X-ray 1.69 B 29-193 [» ]
3N1O X-ray 2.55 A/B/C 29-193 [» ]
3N1P X-ray 2.70 B 29-193 [» ]
ProteinModelPortali Q14623.
SMRi Q14623. Positions 41-197, 203-349.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109765. 3 interactions.
IntActi Q14623. 1 interaction.
STRINGi 9606.ENSP00000295731.

Protein family/group databases

MEROPSi C46.003.

Polymorphism databases

DMDMi 33112634.

Proteomic databases

MaxQBi Q14623.
PaxDbi Q14623.
PeptideAtlasi Q14623.
PRIDEi Q14623.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295731 ; ENSP00000295731 ; ENSG00000163501 .
GeneIDi 3549.
KEGGi hsa:3549.
UCSCi uc002vjo.2. human.

Organism-specific databases

CTDi 3549.
GeneCardsi GC02M219919.
H-InvDB HIX0023995.
HGNCi HGNC:5956. IHH.
HPAi CAB009211.
MIMi 112500. phenotype.
600726. gene.
607778. phenotype.
neXtProti NX_Q14623.
Orphaneti 63446. Acrocapitofemoral dysplasia.
93388. Brachydactyly type A1.
PharmGKBi PA29769.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG250647.
GeneTreei ENSGT00390000001117.
HOGENOMi HOG000233428.
HOVERGENi HBG005480.
InParanoidi Q14623.
KOi K11989.
OMAi PGEGVHW.
OrthoDBi EOG779NZ5.
PhylomeDBi Q14623.
TreeFami TF106458.

Enzyme and pathway databases

Reactomei REACT_18372. Class B/2 (Secretin family receptors).
SignaLinki Q14623.

Miscellaneous databases

EvolutionaryTracei Q14623.
GeneWikii IHH_(protein).
GenomeRNAii 3549.
NextBioi 13856.
PROi Q14623.
SOURCEi Search...

Gene expression databases

Bgeei Q14623.
CleanExi HS_IHH.
ExpressionAtlasi Q14623. baseline and differential.
Genevestigatori Q14623.

Family and domain databases

Gene3Di 2.170.16.10. 1 hit.
3.30.1380.10. 1 hit.
InterProi IPR001657. Hedgehog.
IPR028992. Hedgehog/Intein_dom.
IPR009045. Hedgehog_sig/DD-Pept_Zn-bd_dom.
IPR000320. Hedgehog_signalling_dom.
IPR001767. Hint_dom.
IPR003586. Hint_dom_C.
IPR003587. Hint_dom_N.
IPR006141. Intein_splice_site.
[Graphical view ]
Pfami PF01085. HH_signal. 1 hit.
PF01079. Hint. 1 hit.
[Graphical view ]
PIRSFi PIRSF009400. Peptidase_C46. 1 hit.
PRINTSi PR00632. SONICHHOG.
SMARTi SM00305. HintC. 1 hit.
SM00306. HintN. 1 hit.
[Graphical view ]
SUPFAMi SSF51294. SSF51294. 1 hit.
SSF55166. SSF55166. 1 hit.
PROSITEi PS50817. INTEIN_N_TER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression of Sonic hedgehog and its receptor Patched/Smoothened in human cancer cell lines and embryonic organs."
    Tate G., Kishimoto K., Mitsuya T.
    J. Biochem. Mol. Biol. Biophys. 4:27-34(2000)
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. "Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog."
    Marigo V., Roberts D.J., Lee S.M.K., Tsukurov O., Levi T., Gastier J.M., Epstein D.J., Gilbert D.J., Copeland N.G., Seidman C.E., Jenkins N.A., Seidman J.G., McMahon A.P., Tabin C.
    Genomics 28:44-51(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 100-411.
    Tissue: Fetal lung.
  5. "Products, genetic linkage and limb patterning activity of a murine hedgehog gene."
    Chang D.T., Lopez A., von Kessler D.P., Chiang C., Simandl B.K., Zhao R., Seldin M.F., Fallon J.F., Beachy P.A.
    Development 120:3339-3353(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE OF 124-172.
  6. Cited for: PALMITOYLATION AT CYS-28.
  7. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-282.
    Tissue: Plasma.
  8. "All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner."
    Kavran J.M., Ward M.D., Oladosu O.O., Mulepati S., Leahy D.J.
    J. Biol. Chem. 285:24584-24590(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 29-193 IN COMPLEXES WITH CALCIUM IONS; ZINC IONS; BOC AND CDON, DOMAIN, INTERACTION WITH BOC AND CDON.
  9. "Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels."
    Ma G., Yu J., Xiao Y., Chan D., Gao B., Hu J., He Y., Guo S., Zhou J., Zhang L., Gao L., Zhang W., Kang Y., Cheah K.S., Feng G., Guo X., Wang Y., Zhou C.Z., He L.
    Cell Res. 21:1343-1357(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.44 ANGSTROMS) OF 28-202 OF WILD TYPE AND VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131 IN COMPLEX WITH ZINC IONS, FUNCTION, SUBUNIT, INTERACTION WITH PTCH1, SUBCELLULAR LOCATION, CHOLESTERYLATION, PALMITOYLATION, MUTAGENESIS OF GLU-95, DOMAIN, CHARACTERIZATION OF VARIANTS BDA1 LYS-95; ASN-100; GLU-100 AND LYS-131.
  10. "Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1."
    Gao B., Guo J., She C., Shu A., Yang M., Tan Z., Yang X., Guo S., Feng G., He L.
    Nat. Genet. 28:386-388(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131.
  11. "A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved."
    McCready M.E., Sweeney E., Fryer A.E., Donnai D., Baig A., Racacho L., Warman M.L., Hunter A.G.W., Bulman D.E.
    Hum. Genet. 111:368-375(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BDA1 ASN-100.
  12. "Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips."
    Hellemans J., Coucke P.J., Giedion A., De Paepe A., Kramer P., Beemer F., Mortier G.R.
    Am. J. Hum. Genet. 72:1040-1046(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ACFD LEU-46 AND ALA-190.

Entry informationi

Entry nameiIHH_HUMAN
AccessioniPrimary (citable) accession number: Q14623
Secondary accession number(s): B9EGM5, O43322, Q8N4B9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: July 19, 2003
Last modified: October 29, 2014
This is version 159 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

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