KEGG   Homo sapiens (human): 139411Help
Entry
139411            CDS       T01001                                 

Gene name
PTCHD1, AUTSX4
Definition
(RefSeq) patched domain containing 1
Organism
hsa  Homo sapiens (human)
Disease
H02111  Autism
SSDB OrthologParalogGFIT
Motif
Pfam: Patched Sterol-sensing
Motif
Other DBs
NCBI-GeneID: 139411
NCBI-ProteinID: NP_775766
OMIM: 300828
HGNC: 26392
Ensembl: ENSG00000165186
Vega: OTTHUMG00000021251
Pharos: Q96NR3(Tdark)
UniProt: Q96NR3 X5DNX9
Position
Xp22.11
AA seq 888 aa AA seqDB search
MLRQVLHRGLRTCFSRLGHFIASHPVFFASAPVLISILLGASFSRYQVEESVEHLLAPQH
SLAKIERNLVNSLFPVNRSKHRLYSDLQTPGRYGRVIVTSFQKANMLDQHHTDLILKLHA
AVTKIQVPRPGFNYTFAHICILNNDKTCIVDDIVHVLEELKNARATNRTNFAITYPITHL
KDGRAVYNGHQLGGVTVHSKDRVKSAEAIQLTYYLQSINSLNDMVAERWESSFCDTVRLF
QKSNSKVKMYPYTSSSLREDFQKTSRVSERYLVTSLILVVTMAILCCSMQDCVRSKPWLG
LLGLVTISLATLTAAGIINLTGGKYNSTFLGVPFVMLGHGLYGTFEMLSSWRKTREDQHV
KERTAAVYADSMLSFSLTTAMYLVTFGIGASPFTNIEAARIFCCNSCIAIFFNYLYVLSF
YGSSLVFTGYIENNYQHSIFCRKVPKPEALQEKPAWYRFLLTARFSEDTAEGEEANTYES
HLLVCFLKRYYCDWITNTYVKPFVVLFYLIYISFALMGYLQVSEGSDLSNIVATATQTIE
YTTAQQKYFSNYSPVIGFYIYESIEYWNTSVQEDVLEYTKGFVRISWFESYLNYLRKLNV
STGLPKKNFTDMLRNSFLKAPQFSHFQEDIIFSKKYNDEVDVVASRMFLVAKTMETNREE
LYDLLETLRRLSVTSKVKFIVFNPSFVYMDRYASSLGAPLHNSCISALFLLFFSAFLVAD
SLINVWITLTVVSVEFGVIGFMTLWKVELDCISVLCLIYGINYTIDNCAPMLSTFVLGKD
FTRTKWVKNALEVHGVAILQSYLCYIVGLIPLAAVPSNLTCTLFRCLFLIAFVTFFHCFA
ILPVILTFLPPSKKKRKEKKNPENREEIECVEMVDIDSTRVVDQITTV
NT seq 2667 nt NT seq  +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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