CXorf36

Functionⁱ

GO - Biological processⁱ

regulation of signal transduction Source: GO_Central

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Deleted in autism-related protein 1
Gene namesⁱ	Name:CXorf36 Synonyms:DIA1R ORF Names:UNQ1862/PRO3743
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000147113.16
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:25866 CXorf36
MIMⁱ	300959 gene
neXtProtⁱ	NX_Q9H7Y0

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

DisGeNET More...DisGeNETⁱ	79742
Open Targets More...OpenTargetsⁱ	ENSG00000147113
PharmGKBⁱ	PA134972038

Polymorphism and mutation databases

BioMutaⁱ	CXorf36
DMDMⁱ	212276509

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 31	Sequence analysisAdd BLAST		31
ChainⁱPRO_0000019568	32 – 433	Deleted in autism-related protein 1Add BLAST		402

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Glycosylationⁱ	100	N-linked (GlcNAc...) asparagineSequence analysis		1

Keywords - PTMⁱ

Glycoprotein

Proteomic databases

EPDⁱ	Q9H7Y0
PaxDbⁱ	Q9H7Y0
PeptideAtlas More...PeptideAtlasⁱ	Q9H7Y0
PRIDEⁱ	Q9H7Y0
ProteomicsDBⁱ	81157 81158 [Q9H7Y0-2]
TopDownProteomicsⁱ	Q9H7Y0-1 [Q9H7Y0-1]

PTM databases

iPTMnetⁱ	Q9H7Y0

iPTMnetⁱ

Q9H7Y0

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000147113
CleanExⁱ	HS_CXorf36
Genevisibleⁱ	Q9H7Y0 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA002806

HPAⁱ

HPA002806

Interactionⁱ

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000381086

STRINGⁱ

9606.ENSP00000381086

Structureⁱ

3D structure databases

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

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the DIA1 family.Curated

Keywords - Domainⁱ

Signal

Phylogenomic databases

eggNOGⁱ	ENOG410IFGZ Eukaryota ENOG4111BKG LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055625
HOGENOMⁱ	HOG000112102
HOVERGENⁱ	HBG104916
InParanoidⁱ	Q9H7Y0
OMAⁱ	THIDAGM
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AUP
PhylomeDBⁱ	Q9H7Y0
TreeFamⁱ	TF353643

Family and domain databases

InterProⁱ	View protein in InterPro IPR022049 FAM69_kinase_dom IPR020519 UPF0672
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF12260 PIP49_C, 1 hit
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD307452 UPF0672, 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. Align Add to basket Added to basket

Isoform 1 (identifier: Q9H7Y0-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« 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 
FQKWLQAKRL TPDLVQDCHQ GQRELKFLCM LR

Show »

Length:182

Mass (Da):20,671

Checksum:ⁱ3A3BA256073287BA

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_047103	128	R → K2 PublicationsCorresponds to variant dbSNP:rs1132201Ensembl.		1
Natural variantⁱVAR_047104	146	R → Q. Corresponds to variant dbSNP:rs9969Ensembl.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_035633	167 – 182	GLASP…QRLLD → DCHQGQRELKFLCMLR in isoform 2. 3 PublicationsAdd BLAST		16
Alternative sequenceⁱVSP_035634	183 – 433	Missing in isoform 2. 3 PublicationsAdd BLAST		251

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14266.1 [Q9H7Y0-2] CCDS48096.1 [Q9H7Y0-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_078965.2, NM_024689.2 [Q9H7Y0-2] NP_789789.2, NM_176819.3 [Q9H7Y0-1]
UniGeneⁱ	Hs.98321

Genome annotation databases

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

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
Q9H7Y0	cDNA FLJ55198		HUMAN		235
UPI0004D05FD3		GALVR		434
Chromosome X open reading frame 36		RHIRO		433
Chromosome X open reading frame 36		RHIBE		433
CXorf36 isoform 1		PONAB		433
+1
Q9H7Y0-2	CXorf36 isoform 3		PANTR		182
Chromosome X open reading frame 36		PANPA		182
Chromosome X open reading frame 36		SAIBB		182
Chromosome X open reading frame 36		CALJA		182
Chromosome X open reading frame 36		Cebus capucinus imitator		182
+12

Protein	Similar proteins		Species	Score	Length
Q9H7Y0	cDNA FLJ55198		HUMAN		235
UPI0004D05FD3		GALVR		434
Chromosome X open reading frame 36		RHIRO		433
Chromosome X open reading frame 36		RHIBE		433
CXorf36 isoform 1		PONAB		433
+15
Q9H7Y0-2	Chromosome X open reading frame 36		SAIBB		182
Chromosome X open reading frame 36		MANLE		182
Chromosome X open reading frame 36		CERAT		182
Chromosome X open reading frame 36		NOMLE		182
Chromosome X open reading frame 36		GORGO		182
+16

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14266.1 [Q9H7Y0-2] CCDS48096.1 [Q9H7Y0-1]
NCBI Reference Sequences More...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

STRINGⁱ

9606.ENSP00000381086

PTM databases

iPTMnetⁱ	Q9H7Y0

iPTMnetⁱ

Q9H7Y0

Polymorphism and mutation databases

BioMutaⁱ	CXorf36
DMDMⁱ	212276509

Proteomic databases

EPDⁱ	Q9H7Y0
PaxDbⁱ	Q9H7Y0
PeptideAtlas More...PeptideAtlasⁱ	Q9H7Y0
PRIDEⁱ	Q9H7Y0
ProteomicsDBⁱ	81157 81158 [Q9H7Y0-2]
TopDownProteomicsⁱ	Q9H7Y0-1 [Q9H7Y0-1]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

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

Organism-specific databases

CTDⁱ	79742
DisGeNET More...DisGeNETⁱ	79742
EuPathDBⁱ	HostDB:ENSG00000147113.16
GeneCardsⁱ	CXorf36
H-InvDBⁱ	HIX0022094
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:25866 CXorf36
Human Protein Atlas More...HPAⁱ	HPA002806
MIMⁱ	300959 gene
neXtProtⁱ	NX_Q9H7Y0
Open Targets More...OpenTargetsⁱ	ENSG00000147113
PharmGKBⁱ	PA134972038
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IFGZ Eukaryota ENOG4111BKG LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055625
HOGENOMⁱ	HOG000112102
HOVERGENⁱ	HBG104916
InParanoidⁱ	Q9H7Y0
OMAⁱ	THIDAGM
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0AUP
PhylomeDBⁱ	Q9H7Y0
TreeFamⁱ	TF353643

Miscellaneous databases

ChiTaRSⁱ	CXorf36 human
GeneWikiⁱ	CXorf36
GenomeRNAiⁱ	79742
Protein Ontology More...PROⁱ	PR:Q9H7Y0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000147113
CleanExⁱ	HS_CXorf36
Genevisibleⁱ	Q9H7Y0 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR022049 FAM69_kinase_dom IPR020519 UPF0672
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF12260 PIP49_C, 1 hit
ProDomⁱ	View protein in ProDom or Entries sharing at least one domain PD307452 UPF0672, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	DIA1R_HUMAN
Accessionⁱ	Q9H7Y0Primary (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:	June 20, 2018
	This is version 114 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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UniProtKB - Q9H7Y0 (DIA1R_HUMAN)

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Deleted in autism-related protein 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted

Extracellular region or secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ