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Protein

Deleted in autism-related protein 1

Gene

CXorf36

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000147113.16
HGNCiHGNC:25866 CXorf36
MIMi300959 gene
neXtProtiNX_Q9H7Y0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Genetic variations in CXorf36 may be associated with susceptibility to autism.1 Publication

Keywords - Diseasei

Autism, Autism spectrum disorder

Organism-specific databases

DisGeNETi79742
OpenTargetsiENSG00000147113
PharmGKBiPA134972038

Polymorphism and mutation databases

BioMutaiCXorf36
DMDMi212276509

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 31Sequence analysisAdd BLAST31
ChainiPRO_000001956832 – 433Deleted in autism-related protein 1Add BLAST402

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9H7Y0
PaxDbiQ9H7Y0
PeptideAtlasiQ9H7Y0
PRIDEiQ9H7Y0
ProteomicsDBi81157
81158 [Q9H7Y0-2]
TopDownProteomicsiQ9H7Y0-1 [Q9H7Y0-1]

PTM databases

iPTMnetiQ9H7Y0

Expressioni

Gene expression databases

BgeeiENSG00000147113 Expressed in 154 organ(s), highest expression level in adrenal gland
CleanExiHS_CXorf36
GenevisibleiQ9H7Y0 HS

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

eggNOGiENOG410IFGZ Eukaryota
ENOG4111BKG LUCA
GeneTreeiENSGT00520000055625
HOGENOMiHOG000112102
HOVERGENiHBG104916
InParanoidiQ9H7Y0
OMAiCGRFLIS
OrthoDBiEOG091G0AUP
PhylomeDBiQ9H7Y0
TreeFamiTF353643

Family and domain databases

InterProiView protein in InterPro
IPR020519 DIA1-like
IPR022049 FAM69_kinase_dom
PANTHERiPTHR32073 PTHR32073, 1 hit
PfamiView protein in Pfam
PF12260 PIP49_C, 1 hit

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. AlignAdd to basket
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
        10         20         30         40         50
MEPQLGPEAA ALRPGWLALL LWVSALSCSF SLPASSLSSL VPQVRTSYNF
60 70 80 90 100
GRTFLGLDKC NACIGTSICK KFFKEEIRSD NWLASHLGLP PDSLLSYPAN
110 120 130 140 150
YSDDSKIWRP VEIFRLVSKY QNEISDRRIC ASASAPKTCS IERVLRKTER
160 170 180 190 200
FQKWLQAKRL TPDLVQGLAS PLLRCPSQRL LDRVVRRYAE VADAGSIFMD
210 220 230 240 250
HFTDRDKLRL LYTLAVNSHP ILLQIFPGAE GWPLPKYLGS CGRFLVSTST
260 270 280 290 300
RPLQEFYDAP PDQAADLAYQ LLGVLESLRS NDLNYFFYFT HIDAGMFGVF
310 320 330 340 350
NNGHLFIRDA SAVGVIDKQE GSQEANRAGE NKDIFSCLVS GCQAQLPSCE
360 370 380 390 400
SISEKQSLVL VCQKLLPRLL QGRFPSPVQD DIDSILVQCG DSIRPDPEVL
410 420 430
GAASQLKDIL RPLRTCDSRF AYRYPDCKYN DKF
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_047103128R → K2 PublicationsCorresponds to variant dbSNP:rs1132201Ensembl.1
Natural variantiVAR_047104146R → Q. Corresponds to variant dbSNP:rs9969Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035633167 – 182GLASP…QRLLD → DCHQGQRELKFLCMLR in isoform 2. 3 PublicationsAdd BLAST16
Alternative sequenceiVSP_035634183 – 433Missing in isoform 2. 3 PublicationsAdd BLAST251

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.3 human [Q9H7Y0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

ProteinModelPortaliQ9H7Y0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000381086

PTM databases

iPTMnetiQ9H7Y0

Polymorphism and mutation databases

BioMutaiCXorf36
DMDMi212276509

Proteomic databases

EPDiQ9H7Y0
PaxDbiQ9H7Y0
PeptideAtlasiQ9H7Y0
PRIDEiQ9H7Y0
ProteomicsDBi81157
81158 [Q9H7Y0-2]
TopDownProteomicsiQ9H7Y0-1 [Q9H7Y0-1]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79742
DisGeNETi79742
EuPathDBiHostDB:ENSG00000147113.16
GeneCardsiCXorf36
H-InvDBiHIX0022094
HGNCiHGNC:25866 CXorf36
HPAiHPA002806
MIMi300959 gene
neXtProtiNX_Q9H7Y0
OpenTargetsiENSG00000147113
PharmGKBiPA134972038
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFGZ Eukaryota
ENOG4111BKG LUCA
GeneTreeiENSGT00520000055625
HOGENOMiHOG000112102
HOVERGENiHBG104916
InParanoidiQ9H7Y0
OMAiCGRFLIS
OrthoDBiEOG091G0AUP
PhylomeDBiQ9H7Y0
TreeFamiTF353643

Miscellaneous databases

ChiTaRSiCXorf36 human
GeneWikiiCXorf36
GenomeRNAii79742
PROiPR:Q9H7Y0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147113 Expressed in 154 organ(s), highest expression level in adrenal gland
CleanExiHS_CXorf36
GenevisibleiQ9H7Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR020519 DIA1-like
IPR022049 FAM69_kinase_dom
PANTHERiPTHR32073 PTHR32073, 1 hit
PfamiView protein in Pfam
PF12260 PIP49_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDIA1R_HUMAN
AccessioniPrimary (citable) accession number: Q9H7Y0
Secondary accession number(s): A8MUU5, B2RPN7, Q6UWJ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: November 4, 2008
Last modified: November 7, 2018
This is version 117 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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