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Q14623

- IHH_HUMAN

UniProt

Q14623 - IHH_HUMAN

Protein

Indian hedgehog protein

Gene

IHH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 158 (01 Oct 2014)
      Sequence version 4 (19 Jul 2003)
      Previous versions | rss
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    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

    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 space Source: UniProtKB-SubCell
    3. plasma membrane Source: UniProtKB

    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 cysteine2 Publications
    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

    ArrayExpressiQ14623.
    BgeeiQ14623.
    CleanExiHS_IHH.
    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.
    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

    MSPARLRPRL HFCLVLLLLL VVPAAWGCGP GRVVGSRRRP PRKLVPLAYK    50
    QFSPNVPEKT LGASGRYEGK IARSSERFKE LTPNYNPDII FKDEENTGAD 100
    RLMTQRCKDR LNSLAISVMN QWPGVKLRVT EGWDEDGHHS EESLHYEGRA 150
    VDITTSDRDR NKYGLLARLA VEAGFDWVYY ESKAHVHCSV KSEHSAAAKT 200
    GGCFPAGAQV RLESGARVAL SAVRPGDRVL AMGEDGSPTF SDVLIFLDRE 250
    PHRLRAFQVI ETQDPPRRLA LTPAHLLFTA DNHTEPAARF RATFASHVQP 300
    GQYVLVAGVP GLQPARVAAV STHVALGAYA PLTKHGTLVV EDVVASCFAA 350
    VADHHLAQLA FWPLRLFHSL AWGSWTPGEG VHWYPQLLYR LGRLLLEEGS 400
    FHPLGMSGAG S 411
    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.
    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

    ArrayExpressi Q14623.
    Bgeei Q14623.
    CleanExi HS_IHH.
    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

    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 1, 2014
    This is version 158 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

    Dasty 3