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Q96NR3

- PTHD1_HUMAN

UniProt

Q96NR3 - PTHD1_HUMAN

Protein

Patched domain-containing protein 1

Gene

PTCHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (06 Mar 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. hedgehog receptor activity Source: InterPro

    GO - Biological processi

    1. cognition Source: UniProtKB
    2. smoothened signaling pathway Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Patched domain-containing protein 1
    Gene namesi
    Name:PTCHD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:26392. PTCHD1.

    Subcellular locationi

    Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134942420.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 888888Patched domain-containing protein 1PRO_0000280040Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi77 – 771N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi133 – 1331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi319 – 3191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi568 – 5681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi599 – 5991N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi608 – 6081N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi762 – 7621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi818 – 8181N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ96NR3.
    PRIDEiQ96NR3.

    PTM databases

    PhosphoSiteiQ96NR3.

    Expressioni

    Tissue specificityi

    Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.1 Publication

    Gene expression databases

    BgeeiQ96NR3.
    CleanExiHS_PTCHD1.
    GenevestigatoriQ96NR3.

    Organism-specific databases

    HPAiHPA046110.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000368666.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96NR3.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei20 – 4021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei273 – 29321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei298 – 31821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei328 – 34821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei373 – 39321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei407 – 42721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei502 – 52221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei707 – 72721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei738 – 75821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei795 – 81521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei826 – 84621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini268 – 427160SSDPROSITE-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.
    HOGENOMiHOG000049274.
    HOVERGENiHBG080559.
    InParanoidiQ96NR3.
    OMAiFSEDTTE.
    OrthoDBiEOG718KCB.
    PhylomeDBiQ96NR3.
    TreeFamiTF331806.

    Family and domain databases

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

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96NR3-1) [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

    MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE    50
    SVEHLLAPQH SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS 100
    FQKANMLDQH HTDLILKLHA AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV 150
    DDIVHVLEEL KNARATNRTN FAITYPITHL KDGRAVYNGH QLGGVTVHSK 200
    DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF QKSNSKVKMY 250
    PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG 300
    LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS 350
    WRKTREDQHV KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR 400
    IFCCNSCIAI FFNYLYVLSF YGSSLVFTGY IENNYQHSIF CRKVPKPEAL 450
    QEKPAWYRFL LTARFSEDTA EGEEANTYES HLLVCFLKRY YCDWITNTYV 500
    KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE YTTAQQKYFS 550
    NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV 600
    STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV 650
    AKTMETNREE LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL 700
    HNSCISALFL LFFSAFLVAD SLINVWITLT VVSVEFGVIG FMTLWKVELD 750
    CISVLCLIYG INYTIDNCAP MLSTFVLGKD FTRTKWVKNA LEVHGVAILQ 800
    SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA ILPVILTFLP 850
    PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV 888
    Length:888
    Mass (Da):101,341
    Last modified:March 6, 2007 - v2
    Checksum:i189E1C453CBF548F
    GO
    Isoform 2 (identifier: Q96NR3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-105: Missing.

    Show »
    Length:783
    Mass (Da):89,431
    Checksum:i8EF444616F4B95E4
    GO
    Isoform 3 (identifier: Q96NR3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-105: Missing.
         339-361: HGLYGTFEMLSSWRKTREDQHVK → NYYSSFFCFRLLVVLTRFLKGQE
         362-888: Missing.

    Show »
    Length:256
    Mass (Da):28,889
    Checksum:i9D6EE33CA399D976
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti5 – 51V → A in BAG60932. (PubMed:14702039)Curated
    Sequence conflicti587 – 5871W → R in BAB70816. (PubMed:14702039)Curated
    Sequence conflicti774 – 7741T → A in BAB70816. (PubMed:14702039)Curated
    Sequence conflicti883 – 8831D → V in BAG60932. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731L → F.1 Publication
    VAR_064872
    Natural varianti173 – 1731I → V.1 Publication
    VAR_064873
    Natural varianti195 – 1951V → I.1 Publication
    VAR_064874
    Natural varianti251 – 2511P → L.1 Publication
    VAR_064875
    Natural varianti336 – 3372ML → II.
    VAR_064876
    Natural varianti359 – 3591H → R.1 Publication
    VAR_064877
    Natural varianti470 – 4701A → D.1 Publication
    VAR_064878
    Natural varianti479 – 4791E → G.1 Publication
    VAR_064879
    Natural varianti497 – 4971N → K.1 Publication
    Corresponds to variant rs35880456 [ dbSNP | Ensembl ].
    VAR_064880

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 105105Missing in isoform 2 and isoform 3. 2 PublicationsVSP_023511Add
    BLAST
    Alternative sequencei339 – 36123HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3. 1 PublicationVSP_023512Add
    BLAST
    Alternative sequencei362 – 888527Missing in isoform 3. 1 PublicationVSP_023513Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK054858 mRNA. Translation: BAB70816.1.
    AK298796 mRNA. Translation: BAG60932.1.
    AC073910 Genomic DNA. No translation available.
    BC062344 mRNA. Translation: AAH62344.1.
    BC121061 mRNA. Translation: AAI21062.1.
    CCDSiCCDS35215.2. [Q96NR3-1]
    RefSeqiNP_775766.2. NM_173495.2. [Q96NR3-1]
    UniGeneiHs.319503.

    Genome annotation databases

    EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
    GeneIDi139411.
    KEGGihsa:139411.
    UCSCiuc004dal.4. human. [Q96NR3-1]
    uc010nfu.2. human. [Q96NR3-3]

    Polymorphism databases

    DMDMi146331074.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK054858 mRNA. Translation: BAB70816.1 .
    AK298796 mRNA. Translation: BAG60932.1 .
    AC073910 Genomic DNA. No translation available.
    BC062344 mRNA. Translation: AAH62344.1 .
    BC121061 mRNA. Translation: AAI21062.1 .
    CCDSi CCDS35215.2. [Q96NR3-1 ]
    RefSeqi NP_775766.2. NM_173495.2. [Q96NR3-1 ]
    UniGenei Hs.319503.

    3D structure databases

    ProteinModelPortali Q96NR3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000368666.

    PTM databases

    PhosphoSitei Q96NR3.

    Polymorphism databases

    DMDMi 146331074.

    Proteomic databases

    PaxDbi Q96NR3.
    PRIDEi Q96NR3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379361 ; ENSP00000368666 ; ENSG00000165186 . [Q96NR3-1 ]
    GeneIDi 139411.
    KEGGi hsa:139411.
    UCSCi uc004dal.4. human. [Q96NR3-1 ]
    uc010nfu.2. human. [Q96NR3-3 ]

    Organism-specific databases

    CTDi 139411.
    GeneCardsi GC0XP023352.
    GeneReviewsi PTCHD1.
    H-InvDB HIX0016700.
    HGNCi HGNC:26392. PTCHD1.
    HPAi HPA046110.
    MIMi 300828. gene.
    neXtProti NX_Q96NR3.
    PharmGKBi PA134942420.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149152.
    HOGENOMi HOG000049274.
    HOVERGENi HBG080559.
    InParanoidi Q96NR3.
    OMAi FSEDTTE.
    OrthoDBi EOG718KCB.
    PhylomeDBi Q96NR3.
    TreeFami TF331806.

    Miscellaneous databases

    GenomeRNAii 139411.
    NextBioi 83956.
    PROi Q96NR3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96NR3.
    CleanExi HS_PTCHD1.
    Genevestigatori Q96NR3.

    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] (ISOFORMS 1 AND 2).
      Tissue: Cerebellum and Teratocarcinoma.
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [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] (ISOFORMS 2 AND 3).
      Tissue: Ovary.
    4. "Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability."
      Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T.
      , Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F., Roberts R., McPherson R., Guter S.J., Cook E.H. Jr., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A.P., Rouleau G.A., Hui C.C., Lucy Raymond F., Scherer S.W., Vincent J.B.
      Sci. Transl. Med. 2:49RA68-49RA68(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS PHE-73; VAL-173; ILE-195; LEU-251; 336-ILE-ILE-337; ARG-359; ASP-470; GLY-479 AND LYS-497.

    Entry informationi

    Entry nameiPTHD1_HUMAN
    AccessioniPrimary (citable) accession number: Q96NR3
    Secondary accession number(s): B4DQH0, Q0IJ60, Q6P6B8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 6, 2007
    Last sequence update: March 6, 2007
    Last modified: October 1, 2014
    This is version 88 of the entry and version 2 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 X
      Human chromosome X: 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