KEGG   Homo sapiens (human): 139411
Entry
139411            CDS       T01001                                 
Symbol
PTCHD1, AUTSX4, CXDELp22.11, DELXP22.11
Name
(RefSeq) patched domain containing 1
  KO
K24682  patched domain-containing protein
Organism
hsa  Homo sapiens (human)
Disease
H02111  Autism
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    139411 (PTCHD1)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Patched domain-containing proteins
   139411 (PTCHD1)
SSDB
Motif
Pfam: Patched Sterol-sensing
Other DBs
NCBI-GeneID: 139411
NCBI-ProteinID: NP_775766
OMIM: 300828
HGNC: 26392
Ensembl: ENSG00000165186
UniProt: Q96NR3 X5DNX9
Position
X:23334396..23404374
AA seq 888 aa
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQH
SLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHA
AVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHL
KDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLF
QKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLG
LLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHV
KERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYES
HLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIE
YTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNV
STGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREE
LYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVAD
SLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKD
FTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFA
ILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV
NT seq 2667 nt   +upstreamnt  +downstreamnt
atgctgcggcaggttctgcacaggggcttgaggacgtgtttctcccggctcggccacttc
attgccagtcaccctgtcttcttcgcctcggcgccggtgctcatctccatcctgctcggc
gccagcttcagccgctaccaggtcgaggagagcgtggagcacctgctggcgccccagcac
agcctggccaagatcgagcgcaacctcgttaacagcctcttcccggtcaaccgctccaag
caccgtctctactcggacctgcagacccccgggcgctacggccgggtcatcgtcacctcc
ttccagaaagccaacatgctggaccagcatcacaccgacctgatcttaaagttgcatgct
gctgtcaccaagatccaggttccaaggcctggttttaattacacgtttgcccatatatgt
atcctgaataatgataagacttgcatcgtggatgacatagtgcacgtcctggaagagcta
aagaatgctcgggccaccaatcggaccaattttgctatcacatacccaatcactcactta
aaggacgggagggctgtgtacaatgggcaccagcttgggggcgtcactgtgcacagcaaa
gaccgggtgaaatctgcagaggccatccagctcacctactacctgcagtcaatcaacagt
ctcaatgacatggtggctgagaggtgggagtccagcttctgcgacactgtcagactgttt
cagaaatccaacagcaaagtcaaaatgtacccttacacgtcctcctcactgagggaagat
ttccagaagaccagccgcgtatcagaacgttacctggtcaccagcctgattctggtggtt
accatggccatcctgtgttgctctatgcaggactgcgtccgcagcaaaccctggctaggc
ctgctcggattggtgaccataagcctggccactctcactgcagccgggatcatcaatctt
actggtgggaaatataattccaccttcctgggagtccctttcgtcatgctaggtcatgga
ttatatgggacttttgaaatgttatcctcctggaggaaaactagagaagaccaacatgtt
aaagagagaactgcagcagtctatgcagactccatgctctccttttctctcaccactgcc
atgtacctggtcacctttggcataggggccagccctttcacgaacattgaggcagccagg
attttctgctgcaattcctgtattgcaatcttcttcaactacctctatgtactctcgttt
tatggttccagcctagtgttcactggctacatagaaaacaattaccagcatagtatcttc
tgtagaaaagtcccaaagcctgaggcattgcaggagaagccggcatggtacaggtttctc
ctgacggccagattcagtgaggacacagctgaaggcgaggaagcgaacacttacgagagt
cacctattggtatgtttcctcaaacgctattactgtgactggataaccaacacctatgtc
aagccttttgtagttctcttttaccttatttatatttcctttgccttaatgggctatctg
caggtcagtgaagggtcagaccttagtaacattgtagcaaccgcgacacaaaccattgag
tacactactgcccagcaaaagtacttcagcaactacagtcctgtgattgggttttacata
tatgagtctatagaatactggaacactagtgtccaagaagatgttctagaatacaccaag
gggtttgtgcggatatcctggtttgagagctatttaaattaccttcggaaactcaatgta
tccactggcttgcctaagaaaaatttcacagacatgttgaggaattcctttctgaaagcc
cctcaattttcacattttcaagaggacatcatcttctctaaaaaatacaatgatgaggtc
gatgtagtggcctccagaatgtttttggtggccaagaccatggaaacaaacagagaagaa
ctctatgatctcttggaaaccctgaggagactttctgtcacctccaaggtgaagttcatc
gtcttcaatccgtcctttgtatacatggatcgatatgcctcctctctgggagcccccctg
cacaactcctgcatcagtgctttgttcctgctcttcttctcggcattcctggtggcagat
tcactgattaacgtctggatcactctcacagttgtgtccgtggagtttggagtgataggt
ttcatgacattatggaaagtagaactggactgcatttctgtgctatgcttaatttatgga
attaattacacaattgacaattgtgctccaatgttatccacatttgttctgggcaaggat
ttcacaagaactaaatgggtaaaaaatgccctggaagtgcatggggtagctattttacag
agttacctctgctatattgttggtctgattcctcttgcagctgtgccttcaaatctgacc
tgtacactgttcaggtgcttgtttttaatagcatttgtcaccttctttcactgctttgcc
attttacctgtgatactgactttcctgccaccctctaagaaaaaaaggaaagagaagaaa
aatcctgagaaccgggaggaaattgagtgtgtagaaatggtagatatcgatagtacccgt
gtggttgaccaaattacaacagtgtga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (31)   
   RefSeq(nuc) (3)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (66)   

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