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Q3KNS1

- PTHD3_HUMAN

UniProt

Q3KNS1 - PTHD3_HUMAN

Protein

Patched domain-containing protein 3

Gene

PTCHD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 3 (28 Nov 2012)
      Previous versions | rss
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    Functioni

    May play a role in sperm development or sperm function.1 Publication

    GO - Molecular functioni

    1. hedgehog receptor activity Source: InterPro

    GO - Biological processi

    1. spermatid development Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Patched domain-containing protein 3
    Alternative name(s):
    Patched-related protein
    Gene namesi
    Name:PTCHD3
    Synonyms:PTR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:24776. PTCHD3.

    Subcellular locationi

    Membrane Curated; Multi-pass membrane protein Curated
    Note: Localizes to the midpiece of the sperm tail.1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671117.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 767767Patched domain-containing protein 3PRO_0000309262Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi275 – 2751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi279 – 2791N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi678 – 6781N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ3KNS1.
    PRIDEiQ3KNS1.

    PTM databases

    PhosphoSiteiQ3KNS1.

    Expressioni

    Tissue specificityi

    Expressed in germ cells of the testis (at protein level).1 Publication

    Gene expression databases

    BgeeiQ3KNS1.
    CleanExiHS_PTCHD3.
    GenevestigatoriQ3KNS1.

    Organism-specific databases

    HPAiHPA044613.

    Interactioni

    Protein-protein interaction databases

    BioGridi131890. 1 interaction.
    IntActiQ3KNS1. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3KNS1.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei139 – 15921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei297 – 31721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei383 – 40321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei423 – 44321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei447 – 46721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei486 – 50621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei520 – 54021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei603 – 62321HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini383 – 540158SSDPROSITE-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

    eggNOGiNOG149152.
    HOGENOMiHOG000115764.
    HOVERGENiHBG082604.
    InParanoidiQ3KNS1.
    OMAiTFIMISA.
    OrthoDBiEOG7QK0B6.
    PhylomeDBiQ3KNS1.
    TreeFamiTF331806.

    Family and domain databases

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

    Sequencei

    Sequence statusi: Complete.

    Q3KNS1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPWVEPKPRP GPEQKPKLTK PDSATGPQWY QESQESESEG KQPPPGPLAP    50
    PKSPEPSGPL ASEQDAPLPE GDDAPPRPSM LDDAPRLPLE LDDAPLPEEE 100
    TPEPTAICRH RHRCHTDCLE GLLSRTFQWL GWQVGAHPWI FLLAPLMLTA 150
    ALGTGFLYLP KDEEEDLEEH YTPVGSPAKA ERRFVQGHFT TNDSYRFSAS 200
    RRSTEANFVS LLVVSYSDSL LDPATFAEVS KLDGAVQDLR VAREKGSQIQ 250
    YQQVCARYRA LCVPPNPILY AWQVNKTLNL SSISFPAYNH GRHPLYLTGF 300
    FGGYILGGSL GMGQLLLRAK AMRLLYYLKT EDPEYDVQSK QWLTHLLDQF 350
    TNIKNILALK KIEVVHFTSL SRQLEFEATS VTVIPVFHLA YILIILFAVT 400
    SCFRFDCIRN KMCVAAFGVI SAFLAVVSGF GLLLHIGVPF VIIVANSPFL 450
    ILGVGVDDMF IMISAWHKTN LADDIRERMS NVYSKAAVSI TITTITNILA 500
    LYTGIMSSFR SVQCFCIYTG MTLLFCYFYN ITCFGAFMAL DGKREVVCLC 550
    WLKKADPKWP SFKKFCCFPF GSVPDEHGTD IHPISLFFRD YFGPFLTRSE 600
    SKYFVVFIYV LYIISSIYGC FHVQEGLDLR NLASDDSYIT PYFNVEENYF 650
    SDYGPRVMVI VTKKVDYWDK DVRQKLENCT KIFEKNVYVD KNLTEFWLDA 700
    YVQYLKGNSQ DPNEKNTFMN NIPDFLSNFP NFQHDINISS SNEIISSRGF 750
    IQTTDVSSSA KKKILLF 767
    Length:767
    Mass (Da):86,872
    Last modified:November 28, 2012 - v3
    Checksum:iB9D6612E1A6B8623
    GO

    Sequence cautioni

    The sequence BAC86399.1 differs from that shown. Reason: Erroneous termination at position 768. Translated as stop.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti404 – 4041R → G in BAC86399. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti126 – 1261T → A.
    Corresponds to variant rs12098477 [ dbSNP | Ensembl ].
    VAR_036918
    Natural varianti152 – 1521L → P.1 Publication
    Corresponds to variant rs6482626 [ dbSNP | Ensembl ].
    VAR_036919
    Natural varianti224 – 2241A → G.
    Corresponds to variant rs12098562 [ dbSNP | Ensembl ].
    VAR_036920
    Natural varianti372 – 3721R → K.
    Corresponds to variant rs2152099 [ dbSNP | Ensembl ].
    VAR_036921
    Natural varianti407 – 4071C → G.
    Corresponds to variant rs2484180 [ dbSNP | Ensembl ].
    VAR_036922
    Natural varianti473 – 4731D → G.1 Publication
    Corresponds to variant rs2429485 [ dbSNP | Ensembl ].
    VAR_036923
    Natural varianti521 – 5211M → T.1 Publication
    Corresponds to variant rs2505327 [ dbSNP | Ensembl ].
    VAR_036924
    Natural varianti584 – 5841I → M.2 Publications
    Corresponds to variant rs1638630 [ dbSNP | Ensembl ].
    VAR_036925

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK126025 mRNA. Translation: BAC86399.1. Sequence problems.
    AL355493 Genomic DNA. No translation available.
    BC107139 mRNA. Translation: AAI07140.1.
    CCDSiCCDS31173.1.
    RefSeqiNP_001030014.2. NM_001034842.3.
    UniGeneiHs.631832.

    Genome annotation databases

    EnsembliENST00000438700; ENSP00000417658; ENSG00000182077.
    GeneIDi374308.
    KEGGihsa:374308.
    UCSCiuc001itu.2. human.

    Polymorphism databases

    DMDMi425906063.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK126025 mRNA. Translation: BAC86399.1 . Sequence problems.
    AL355493 Genomic DNA. No translation available.
    BC107139 mRNA. Translation: AAI07140.1 .
    CCDSi CCDS31173.1.
    RefSeqi NP_001030014.2. NM_001034842.3.
    UniGenei Hs.631832.

    3D structure databases

    ProteinModelPortali Q3KNS1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131890. 1 interaction.
    IntActi Q3KNS1. 1 interaction.

    PTM databases

    PhosphoSitei Q3KNS1.

    Polymorphism databases

    DMDMi 425906063.

    Proteomic databases

    PaxDbi Q3KNS1.
    PRIDEi Q3KNS1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000438700 ; ENSP00000417658 ; ENSG00000182077 .
    GeneIDi 374308.
    KEGGi hsa:374308.
    UCSCi uc001itu.2. human.

    Organism-specific databases

    CTDi 374308.
    GeneCardsi GC10M027728.
    H-InvDB HIX0008737.
    HIX0026004.
    HGNCi HGNC:24776. PTCHD3.
    HPAi HPA044613.
    MIMi 611791. gene.
    neXtProti NX_Q3KNS1.
    PharmGKBi PA142671117.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149152.
    HOGENOMi HOG000115764.
    HOVERGENi HBG082604.
    InParanoidi Q3KNS1.
    OMAi TFIMISA.
    OrthoDBi EOG7QK0B6.
    PhylomeDBi Q3KNS1.
    TreeFami TF331806.

    Miscellaneous databases

    GenomeRNAii 374308.
    NextBioi 100150.
    PROi Q3KNS1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q3KNS1.
    CleanExi HS_PTCHD3.
    Genevestigatori Q3KNS1.

    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], VARIANTS GLY-473; THR-521 AND MET-584.
      Tissue: Testis.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      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], VARIANTS PRO-152 AND MET-584.
    4. "Male germ cell-specific expression of a novel patched-domain containing gene Ptchd3."
      Fan J., Akabane H., Zheng X., Zhou X., Zhang L., Liu Q., Zhang Y.-L., Yang J., Zhu G.-Z.
      Biochem. Biophys. Res. Commun. 363:757-761(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiPTHD3_HUMAN
    AccessioniPrimary (citable) accession number: Q3KNS1
    Secondary accession number(s): I3L499, Q6ZU28
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: November 28, 2012
    Last modified: October 1, 2014
    This is version 68 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 10
      Human chromosome 10: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3