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Q9H7Y0

- DIA1R_HUMAN

UniProt

Q9H7Y0 - DIA1R_HUMAN

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Protein

Deleted in autism-related protein 1

Gene
CXorf36, DIA1R, UNQ1862/PRO3743
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

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 Reviewed prediction

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

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 – 3131 Reviewed predictionAdd
BLAST
Chaini32 – 433402Deleted in autism-related protein 1PRO_0000019568Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the DIA1 family.

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. VSP_035633Add
BLAST
Alternative sequencei183 – 433251Missing in isoform 2. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 85 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

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