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Protein

Deleted in autism-related protein 1

Gene

CXorf36

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

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

HGNCiHGNC:25866. CXorf36.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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

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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9H7Y0.
PeptideAtlasiQ9H7Y0.
PRIDEiQ9H7Y0.
TopDownProteomicsiQ9H7Y0-1. [Q9H7Y0-1]

Expressioni

Gene expression databases

BgeeiENSG00000147113.
CleanExiHS_CXorf36.
GenevisibleiQ9H7Y0. HS.

Organism-specific databases

HPAiHPA002806.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000381086.

Structurei

3D structure databases

ProteinModelPortaliQ9H7Y0.
SMRiQ9H7Y0.
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.
OMAiTHIDAGM.
OrthoDBiEOG091G0AUP.
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. 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 → K.2 PublicationsCorresponds to variant rs1132201dbSNPEnsembl.1
Natural variantiVAR_047104146R → Q.Corresponds to variant rs9969dbSNPEnsembl.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

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.
SMRiQ9H7Y0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000381086.

Polymorphism and mutation databases

BioMutaiCXorf36.
DMDMi212276509.

Proteomic databases

PaxDbiQ9H7Y0.
PeptideAtlasiQ9H7Y0.
PRIDEiQ9H7Y0.
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.
GeneCardsiCXorf36.
H-InvDBHIX0022094.
HGNCiHGNC:25866. CXorf36.
HPAiHPA002806.
MIMi300959. gene.
neXtProtiNX_Q9H7Y0.
OpenTargetsiENSG00000147113.
PharmGKBiPA134972038.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFGZ. Eukaryota.
ENOG4111BKG. LUCA.
GeneTreeiENSGT00520000055625.
HOGENOMiHOG000112102.
HOVERGENiHBG104916.
InParanoidiQ9H7Y0.
OMAiTHIDAGM.
OrthoDBiEOG091G0AUP.
PhylomeDBiQ9H7Y0.
TreeFamiTF353643.

Miscellaneous databases

ChiTaRSiCXorf36. human.
GeneWikiiCXorf36.
GenomeRNAii79742.
PROiQ9H7Y0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147113.
CleanExiHS_CXorf36.
GenevisibleiQ9H7Y0. HS.

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]
ProtoNetiSearch...

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: November 30, 2016
This is version 104 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.