KEGG   Homo sapiens (human): 83394
Entry
83394             CDS       T01001                                 
Symbol
PITPNM3, ACKR6, CORD5, NIR1, RDGBA3
Name
(RefSeq) PITPNM family member 3
  KO
K24069  membrane-associated phosphatidylinositol transfer protein
Organism
hsa  Homo sapiens (human)
Disease
H00481  Cone-rod dystrophy and cone dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    83394 (PITPNM3)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    83394 (PITPNM3)
SSDB
Motif
Pfam: DDHD LNS2 Acid_phosphat_B
Other DBs
NCBI-GeneID: 83394
NCBI-ProteinID: NP_112497
OMIM: 608921
HGNC: 21043
Ensembl: ENSG00000091622
UniProt: Q9BZ71
Position
17:complement(6451263..6556555)
AA seq 974 aa
MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSND
LVEQIETMGKLDEHQGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGC
PQRSCKTHVLLLVLHGGNILDTGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKF
VPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAISSPQYQDAVATVIERA
NQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQ
DTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCEAITQHHAFL
SSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDG
FQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVPPVSVPRYQRFPLGDGQSLLLADAL
HTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGAS
RITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNI
KESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPL
DMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRG
DQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRHWQDLGYMILY
ITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYG
STKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSR
MILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPA
LSWARGPPKFESVP
NT seq 2925 nt   +upstreamnt  +downstreamnt
atggccaaggcgggccgtgcaggtggtcctcccccgggcggcggtgccccctggcacctt
cgaaatgtcctcagtgactctgtggagagctcagatgatgaattctttgatgccagagag
gagatggctgaagggaagaatgccatcctcattgggatgagccagtggaactccaatgac
ctcgtggagcagatcgagaccatggggaaactggacgagcatcaaggagaagggaccgcg
ccgtgcacatccagcatcctccaggagaagcagcgagaactgtaccgggtttccttgaga
agacagaggttcccagcccagggaagcatcgagatccacgaagacagcgaggaaggctgc
ccgcagcgctcctgcaagacacatgtcctcctgctggtcctgcatgggggaaacatcctg
gacacgggtgccggggacccgtcctgcaaggcagccgacatccacaccttcagctccgtg
ctggagaaggtcacacgagcccatttccctgctgccctgggccacatcctcatcaagttc
gtcccctgtcctgccatctgctctgaggctttctcgcttgtctctcacctgaacccctac
agccacgatgagggctgcctcagcagcagccaggaccacgtccctctggccgcccttccc
ctgttggccatctcctccccgcagtaccaggatgctgtcgccaccgtcatcgagcgagcc
aaccaggtctacagagagttcctgaagtcctctgatgggattggcttcagtgggcaggtg
tgtctcatcggggactgtgtggggggcctcctggccttcgatgccatctgctacagtgcg
gggccctcaggggacagccctgccagcagcagccggaaggggagcatcagcagcacccag
gacaccccagtcgcggtggaggaagattgcagcctggccagcagcaagcgtctcagcaaa
agcaacattgacatctccagtgggttggaggatgaggagcccaagaggccgttgccgcgg
aaacagagcgactcctccacctatgactgcgaggccatcacccagcaccatgccttcctc
tcaagcatccactccagcgtgctaaaggatgagtctgagaccccggcggctggggggccg
cagctccctgaggtcagcctgggccgctttgacttcgatgtgtccgacttcttcctcttc
ggctcgccactgggcctggtcctggccatgcggaggacggtgctgcctgggctggacggc
ttccaggtgcgtcctgcctgcagccaggtctacagcttcttccattgcgcagacccctct
gcctcacggctcgagccactgctggagcccaagttccacctggtgccgcctgtcagcgtg
cctcgctaccagaggttcccactgggcgatgggcagtccctcctcctcgctgatgcccta
cacacccacagccccctcttcctggagggcagctcccgggacagcccgccacttctggat
gcccctgcctcgccccctcaggcctcgaggttccagcgcccaggacggaggatgagcgag
gggagctcccacagcgagagctcggagtcctcggacagcatggcacccgtgggtgcctcc
cgcatcacagccaagtggtggggaagcaagaggatcgactatgccctgtactgccctgat
gtcctcacggccttccccaccgtggccctgccccacctcttccacgccagttactgggag
tccacagacgtggtggccttcatcctgagacaggtaatgcgctatgagagcgtgaacatc
aaggaaagcgcccgcctggaccctgcagcactgagtcctgccaacccccgggagaagtgg
cttcgtaagcggactcaggtcaagctgaggaatgtcacggctaatcaccgggccaatgat
gtgattgctgctgaagatggcccccaggtcctggtggggcggttcatgtacgggcccctc
gacatggtggctctgactggagagaaggtggacatcctagtaatggcagagccatcctca
ggccgctgggtacacctggacacagagatcaccaacagcagtggtcgcatcacatacaat
gtgccgcggccccggcgcctgggggttggtgtctatcctgtgaagatggtcgtcaggggc
gaccagacctgtgccatgagctacctcacggtgttgcccaggggcatggagtgtgtagtg
ttcagcattgatgggtccttcgcggccagcgtgtctatcatgggaagcgaccccaaggtc
cggccgggtgcagtggatgttgtccggcactggcaggacttgggctacatgatcctttac
atcacgggacggccggacatgcagaagcagcgggtggtgtcgtggctgtcccagcacaac
ttcccacagggcatgatcttcttctccgatgggctggtgcatgacccgctgcggcagaag
gccatcttcctgcgcaacctcatgcaggagtgcttcatcaaaatcagtgcggcctatggc
tccacgaaggacatctctgtctacagcgtgctgggcctgcctgcctcccagatcttcatt
gtgggccggcccaccaagaagtaccaaacccagtgccagttcctgagcgagggctacgcc
gcacacctggccgcgctggaggccagccaccgctcacgcccaaagaagaacaactcgcgc
atgatcctgcgcaagggcagcttcgggctgcacgcgcagccagagttcctgcggaagcgc
aaccacctgcgcagaaccatgtcagtgcagcagcccgacccgcccgccgccaaccccaag
cccgagcgggcccagagccagcccgagtcggacaaagaccacgagcggccgctgccggcg
ctcagctgggcgcgtgggccccccaagttcgagtcggtgccctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (26)   
   RefSeq(nuc) (8)   
   GenBank (9)   
   EMBL (9)   
Protein domain (3)   
   Pfam (3)   
All databases (55)   

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