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Q9H7Y0

- DIA1R_HUMAN

UniProt

Q9H7Y0 - DIA1R_HUMAN

Protein

Deleted in autism-related protein 1

Gene

CXorf36

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 3 (04 Nov 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Deleted in autism-related protein 1
    Gene namesi
    Name:CXorf36
    Synonyms:DIA1R
    ORF Names:UNQ1862/PRO3743
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:25866. CXorf36.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Genetic variations in CXorf36 may be associated with susceptibility to autism.

    Organism-specific databases

    PharmGKBiPA134972038.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 3131Sequence AnalysisAdd
    BLAST
    Chaini32 – 433402Deleted in autism-related protein 1PRO_0000019568Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi100 – 1001N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9H7Y0.
    PRIDEiQ9H7Y0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H7Y0.
    BgeeiQ9H7Y0.
    CleanExiHS_CXorf36.
    GenevestigatoriQ9H7Y0.

    Organism-specific databases

    HPAiHPA002806.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000381086.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H7Y0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the DIA1 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG119995.
    HOGENOMiHOG000112102.
    HOVERGENiHBG104916.
    InParanoidiQ9H7Y0.
    OMAiMLRCPSQ.
    OrthoDBiEOG7DRJ40.
    PhylomeDBiQ9H7Y0.
    TreeFamiTF353643.

    Family and domain databases

    InterProiIPR022049. FAM69_kinase_dom.
    IPR020519. UPF0672.
    [Graphical view]
    PfamiPF12260. PIP49_C. 1 hit.
    [Graphical view]
    ProDomiPD307452. UPF0672. 1 hit.
    [Graphical view] [Entries sharing at least one domain]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H7Y0-1) [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

    MEPQLGPEAA ALRPGWLALL LWVSALSCSF SLPASSLSSL VPQVRTSYNF    50
    GRTFLGLDKC NACIGTSICK KFFKEEIRSD NWLASHLGLP PDSLLSYPAN 100
    YSDDSKIWRP VEIFRLVSKY QNEISDRRIC ASASAPKTCS IERVLRKTER 150
    FQKWLQAKRL TPDLVQGLAS PLLRCPSQRL LDRVVRRYAE VADAGSIFMD 200
    HFTDRDKLRL LYTLAVNSHP ILLQIFPGAE GWPLPKYLGS CGRFLVSTST 250
    RPLQEFYDAP PDQAADLAYQ LLGVLESLRS NDLNYFFYFT HIDAGMFGVF 300
    NNGHLFIRDA SAVGVIDKQE GSQEANRAGE NKDIFSCLVS GCQAQLPSCE 350
    SISEKQSLVL VCQKLLPRLL QGRFPSPVQD DIDSILVQCG DSIRPDPEVL 400
    GAASQLKDIL RPLRTCDSRF AYRYPDCKYN DKF 433
    Length:433
    Mass (Da):48,555
    Last modified:November 4, 2008 - v3
    Checksum:i547218A719CF7135
    GO
    Isoform 2 (identifier: Q9H7Y0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         167-182: GLASPLLRCPSQRLLD → DCHQGQRELKFLCMLR
         183-433: Missing.

    Show »
    Length:182
    Mass (Da):20,671
    Checksum:i3A3BA256073287BA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti128 – 1281R → K.2 Publications
    Corresponds to variant rs1132201 [ dbSNP | Ensembl ].
    VAR_047103
    Natural varianti146 – 1461R → Q.
    Corresponds to variant rs9969 [ dbSNP | Ensembl ].
    VAR_047104

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei167 – 18216GLASP…QRLLD → DCHQGQRELKFLCMLR in isoform 2. 3 PublicationsVSP_035633Add
    BLAST
    Alternative sequencei183 – 433251Missing in isoform 2. 3 PublicationsVSP_035634Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358764 mRNA. Translation: AAQ89124.1.
    AK024165 mRNA. Translation: BAB14843.1.
    AC136488 Genomic DNA. No translation available.
    BC137528 mRNA. Translation: AAI37529.1.
    BC137529 mRNA. Translation: AAI37530.1.
    CCDSiCCDS14266.1. [Q9H7Y0-2]
    CCDS48096.1. [Q9H7Y0-1]
    RefSeqiNP_078965.2. NM_024689.2. [Q9H7Y0-2]
    NP_789789.2. NM_176819.3. [Q9H7Y0-1]
    UniGeneiHs.98321.

    Genome annotation databases

    EnsembliENST00000377934; ENSP00000367168; ENSG00000147113. [Q9H7Y0-2]
    ENST00000398000; ENSP00000381086; ENSG00000147113. [Q9H7Y0-1]
    GeneIDi79742.
    KEGGihsa:79742.
    UCSCiuc004dgg.2. human. [Q9H7Y0-1]
    uc004dgi.3. human. [Q9H7Y0-2]

    Polymorphism databases

    DMDMi212276509.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358764 mRNA. Translation: AAQ89124.1 .
    AK024165 mRNA. Translation: BAB14843.1 .
    AC136488 Genomic DNA. No translation available.
    BC137528 mRNA. Translation: AAI37529.1 .
    BC137529 mRNA. Translation: AAI37530.1 .
    CCDSi CCDS14266.1. [Q9H7Y0-2 ]
    CCDS48096.1. [Q9H7Y0-1 ]
    RefSeqi NP_078965.2. NM_024689.2. [Q9H7Y0-2 ]
    NP_789789.2. NM_176819.3. [Q9H7Y0-1 ]
    UniGenei Hs.98321.

    3D structure databases

    ProteinModelPortali Q9H7Y0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000381086.

    Polymorphism databases

    DMDMi 212276509.

    Proteomic databases

    PaxDbi Q9H7Y0.
    PRIDEi Q9H7Y0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377934 ; ENSP00000367168 ; ENSG00000147113 . [Q9H7Y0-2 ]
    ENST00000398000 ; ENSP00000381086 ; ENSG00000147113 . [Q9H7Y0-1 ]
    GeneIDi 79742.
    KEGGi hsa:79742.
    UCSCi uc004dgg.2. human. [Q9H7Y0-1 ]
    uc004dgi.3. human. [Q9H7Y0-2 ]

    Organism-specific databases

    CTDi 79742.
    GeneCardsi GC0XM045007.
    H-InvDB HIX0022094.
    HGNCi HGNC:25866. CXorf36.
    HPAi HPA002806.
    neXtProti NX_Q9H7Y0.
    PharmGKBi PA134972038.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG119995.
    HOGENOMi HOG000112102.
    HOVERGENi HBG104916.
    InParanoidi Q9H7Y0.
    OMAi MLRCPSQ.
    OrthoDBi EOG7DRJ40.
    PhylomeDBi Q9H7Y0.
    TreeFami TF353643.

    Miscellaneous databases

    GeneWikii CXorf36.
    GenomeRNAii 79742.
    NextBioi 69149.

    Gene expression databases

    ArrayExpressi Q9H7Y0.
    Bgeei Q9H7Y0.
    CleanExi HS_CXorf36.
    Genevestigatori Q9H7Y0.

    Family and domain databases

    InterProi IPR022049. FAM69_kinase_dom.
    IPR020519. UPF0672.
    [Graphical view ]
    Pfami PF12260. PIP49_C. 1 hit.
    [Graphical view ]
    ProDomi PD307452. UPF0672. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    2. "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 2), VARIANT LYS-128.
      Tissue: Mammary gland.
    3. "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].
    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), VARIANT LYS-128.
    5. "DIA1R is an X-linked gene related to Deleted In Autism-1."
      Aziz A., Harrop S.P., Bishop N.E.
      PLoS ONE 6:E14534-E14534(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO AUTISM.

    Entry informationi

    Entry nameiDIA1R_HUMAN
    AccessioniPrimary (citable) accession number: Q9H7Y0
    Secondary accession number(s): A8MUU5, B2RPN7, Q6UWJ5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: November 4, 2008
    Last modified: October 1, 2014
    This is version 86 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 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3