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Q6ZW05

- PTHD4_HUMAN

UniProt

Q6ZW05 - PTHD4_HUMAN

Protein

Patched domain-containing protein 4

Gene

PTCHD4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 3 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. hedgehog receptor activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Patched domain-containing protein 4
    Gene namesi
    Name:PTCHD4
    Synonyms:C6orf138
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21345. PTCHD4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134982541.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 846846Patched domain-containing protein 4PRO_0000320640Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi762 – 7621N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ6ZW05.
    PRIDEiQ6ZW05.

    PTM databases

    PhosphoSiteiQ6ZW05.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6ZW05.
    BgeeiQ6ZW05.
    CleanExiHS_C6orf138.
    GenevestigatoriQ6ZW05.

    Organism-specific databases

    HPAiHPA041276.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZW05.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei41 – 6121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei230 – 25021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei265 – 28521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei293 – 31321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei336 – 35621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei373 – 39321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei465 – 48521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei660 – 68021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei686 – 70621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei718 – 73821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei765 – 78521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei787 – 80721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini233 – 392160SSDPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the patched family.Curated
    Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG242733.
    HOGENOMiHOG000049274.
    HOVERGENiHBG080559.
    InParanoidiQ6ZW05.
    OMAiWIWWRML.
    OrthoDBiEOG718KCB.
    PhylomeDBiQ6ZW05.
    TreeFamiTF331806.

    Family and domain databases

    InterProiIPR003392. Patched.
    IPR000731. SSD.
    [Graphical view]
    PfamiPF02460. Patched. 1 hit.
    [Graphical view]
    PROSITEiPS50156. SSD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZW05-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MCFLRRPGAP ASWIWWRMLR QVLRRGLQSF CHRLGLCVSR HPVFFLTVPA    50
    VLTITFGLSA LNRFQPEGDL ERLVAPSHSL AKIERSLASS LFPLDQSKSQ 100
    LYSDLHTPGR YGRVILLSPT GDNILLQAEG ILQTHRAVLE MKDGRNSFIG 150
    HQLGGVVEVP NSKDQRVKSA RAIQITYYLQ TYGSATQDLI GEKWENEFCK 200
    LIRKLQEEHQ ELQLYSLASF SLWRDFHKTS ILARSKVLVS LVLILTTATL 250
    SSSMKDCLRS KPFLGLLGVL TVCISIITAA GIFFITDGKY NSTLLGIPFF 300
    AMGHGTKGVF ELLSGWRRTK ENLPFKDRIA DAYSDVMVTY TMTSSLYFIT 350
    FGMGASPFTN IEAVKVFCQN MCVSILLNYF YIFSFFGSCL VFAGQLEQNR 400
    YHSIFCCKIP SAEYLDRKPV WFQTVMSDGH QQTSHHETNP YQHHFIQHFL 450
    REHYNEWITN IYVKPFVVIL YLIYASFSFM GCLQISDGAN IINLLASDSP 500
    SVSYAMVQQK YFSNYSPVIG FYVYEPLEYW NSSVQDDLRR LCSGFTAVSW 550
    VEQYYQFLKV SNVSANNKSD FISVLQSSFL KKPEFQHFRN DIIFSKAGDE 600
    SNIIASRLYL VARTSRDKQK EITEVLEKLR PLSLSKSIRF IVFNPSFVFM 650
    DHYSLSVTVP VLIAGFGVLL VLILTFFLVI HPLGNFWLIL SVTSIELGVL 700
    GLMTLWNVDM DCISILCLIY TLNFAIDHCA PLLFTFVLAT EHTRTQCIKS 750
    SLQDHGTAIL QNVTSFLIGL VPLLFVPSNL TFTLFKCLLL TGGCTLLHCF 800
    VILPVFLTFF PPSKKHHKKK KRAKRKEREE IECIEIQENP DHVTTV 846
    Length:846
    Mass (Da):96,371
    Last modified:November 24, 2009 - v3
    Checksum:i2B82D1EB3519F0C6
    GO
    Isoform 2 (identifier: Q6ZW05-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-17: Missing.
         304-311: HGTKGVFE → ISTEFTSS
         312-846: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:294
    Mass (Da):32,736
    Checksum:i1437DC62AEB1F7FD
    GO

    Sequence cautioni

    The sequence BAC85703.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence BAC85703.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAI20456.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAX04325.1 differs from that shown. Reason: Erroneous gene model prediction.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1717Missing in isoform 2. 1 PublicationVSP_056623Add
    BLAST
    Alternative sequencei304 – 3118HGTKGVFE → ISTEFTSS in isoform 2. 1 PublicationVSP_056624
    Alternative sequencei312 – 846535Missing in isoform 2. 1 PublicationVSP_056625Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK123835 mRNA. Translation: BAC85703.1. Sequence problems.
    AK299301 mRNA. Translation: BAG61315.1.
    AL161622 Genomic DNA. Translation: CAI20456.1. Sequence problems.
    AL139336 Genomic DNA. No translation available.
    AL121973 Genomic DNA. No translation available.
    AL353138 Genomic DNA. No translation available.
    CH471081 Genomic DNA. Translation: EAX04325.1. Sequence problems.
    BC136779 mRNA. Translation: AAI36780.1.
    CCDSiCCDS34473.2.
    RefSeqiNP_001013754.3. NM_001013732.3.
    NP_997382.2. NM_207499.2.
    UniGeneiHs.659409.

    Genome annotation databases

    EnsembliENST00000339488; ENSP00000341914; ENSG00000244694.
    ENST00000543600; ENSP00000439864; ENSG00000244694.
    GeneIDi442213.
    KEGGihsa:442213.
    UCSCiuc011dwm.2. human.

    Polymorphism databases

    DMDMi269849699.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK123835 mRNA. Translation: BAC85703.1 . Sequence problems.
    AK299301 mRNA. Translation: BAG61315.1 .
    AL161622 Genomic DNA. Translation: CAI20456.1 . Sequence problems.
    AL139336 Genomic DNA. No translation available.
    AL121973 Genomic DNA. No translation available.
    AL353138 Genomic DNA. No translation available.
    CH471081 Genomic DNA. Translation: EAX04325.1 . Sequence problems.
    BC136779 mRNA. Translation: AAI36780.1 .
    CCDSi CCDS34473.2.
    RefSeqi NP_001013754.3. NM_001013732.3.
    NP_997382.2. NM_207499.2.
    UniGenei Hs.659409.

    3D structure databases

    ProteinModelPortali Q6ZW05.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q6ZW05.

    Polymorphism databases

    DMDMi 269849699.

    Proteomic databases

    PaxDbi Q6ZW05.
    PRIDEi Q6ZW05.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339488 ; ENSP00000341914 ; ENSG00000244694 .
    ENST00000543600 ; ENSP00000439864 ; ENSG00000244694 .
    GeneIDi 442213.
    KEGGi hsa:442213.
    UCSCi uc011dwm.2. human.

    Organism-specific databases

    CTDi 442213.
    GeneCardsi GC06M047845.
    HGNCi HGNC:21345. PTCHD4.
    HPAi HPA041276.
    neXtProti NX_Q6ZW05.
    PharmGKBi PA134982541.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242733.
    HOGENOMi HOG000049274.
    HOVERGENi HBG080559.
    InParanoidi Q6ZW05.
    OMAi WIWWRML.
    OrthoDBi EOG718KCB.
    PhylomeDBi Q6ZW05.
    TreeFami TF331806.

    Miscellaneous databases

    GenomeRNAii 442213.
    NextBioi 110853.
    PROi Q6ZW05.

    Gene expression databases

    ArrayExpressi Q6ZW05.
    Bgeei Q6ZW05.
    CleanExi HS_C6orf138.
    Genevestigatori Q6ZW05.

    Family and domain databases

    InterProi IPR003392. Patched.
    IPR000731. SSD.
    [Graphical view ]
    Pfami PF02460. Patched. 1 hit.
    [Graphical view ]
    PROSITEi PS50156. SSD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 2).
      Tissue: Brain.

    Entry informationi

    Entry nameiPTHD4_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZW05
    Secondary accession number(s): B0QZ29, B4DRK3, Q5T884
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 69 of the entry and version 3 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3