• Gene id: 139411

Gene Summary

• Gene Symbol: PTCHD1   Gene   UCSC   Ensembl
• Aliases: AUTSX4
• Gene name: patched domain containing 1
• Alternate names: patched domain-containing protein 1, PTCHD1 isoform,
• Gene location: Xp22.11 (23334368: 23404373)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with in
• OMIM: 300828

Protein Summary

• Protein general information: Q96NR3  
  • Name: Patched domain containing protein 1
  • Length: 888  
  • Mass: 101341
  • Tissue specificity: Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland. {ECO
• Sequence:

  MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQHSLAKIERNLVNSLFP
  VNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHAAVTKIQVPRPGFNYTFAHICILNNDKTCIV
  DDIVHVLEELKNARATNRTNFAITYPITHLKDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMV
  AERWESSFCDTVRLFQKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLG
  LLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHVKERTAAVYADSMLSF
  SLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSFYGSSLVFTGYIENNYQHSIFCRKVPKPEAL
  QEKPAWYRFLLTARFSEDTAEGEEANTYESHLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEG
  SDLSNIVATATQTIEYTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNV
  STGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREELYDLLETLRRLSVTS
  KVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVADSLINVWITLTVVSVEFGVIGFMTLWKVELD
  CISVLCLIYGINYTIDNCAPMLSTFVLGKDFTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFR
  CLFLIAFVTFFHCFAILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV

• Structural information:
  • Protein Domains: (268..42-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR003392  IPR000731  
  • Prosite: PS50156
  • STRING: ENSP00000368666
• Other Databases: GeneCards:  PTCHD1  Malacards:  PTCHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0050890	cognition	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0035176	social behavior	ISS	biological process
GO:0021794	thalamus development	ISS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098977	inhibitory chemical synaptic transmission	IEA	biological process
GO:0050890	cognition	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0098976	excitatory chemical synaptic transmission	IEA	biological process
GO:0035176	social behavior	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0007616	long-term memory	IEA	biological process
GO:0007614	short-term memory	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007224	smoothened signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0050890	cognition	IMP	biological process

Diseases

Associated diseases	References
Autism	KEGG:H02111
Autism	KEGG:H02111
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)