Property Summary

NCBI Gene PubMed Count 9
PubMed Score 20.43
PubTator Score 19.50

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 1.62361881622791E-12
pilocytic astrocytoma 3086 4.6664163590364E-9
psoriasis 6685 1.17926535240627E-7
medulloblastoma, large-cell 6234 6.96640313502518E-6
glioblastoma 5572 9.66930320458291E-6
sonic hedgehog group medulloblastoma 1482 2.88623120036249E-5
primitive neuroectodermal tumor 3031 2.95715127969568E-5
adult high grade glioma 2148 4.36636555459805E-5
ovarian cancer 8492 8.84375492135529E-4
ependymoma 2514 0.00189585021554578
astrocytic glioma 2241 0.0026819109051781
oligodendroglioma 2849 0.00444729594456906
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00640119135717001
non primary Sjogren syndrome sicca 840 0.0131685731252263
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0143852121708378
spina bifida 1064 0.0185287197593102
subependymal giant cell astrocytoma 2287 0.0379855514239005
Disease Target Count Z-score Confidence
Cone dystrophy 59 4.717 2.4

Expression

Synonym

Accession Q9BZ71 A1A5D0 F8WEW5 Q59GH9 Q9NPQ4
Symbols NIR1
ACKR6
CORD5
RDGBA3

Gene

  Ortholog (10)

Gene RIF (6)

PMID Text
24001613 Data indicate that PYK2 N-terminal domain interacting receptor 1 (Nir1) could induce epithelial-mesenchymal transition by stabilising Snail via the PI3K/Akt/GSK3beta/Snail signalling pathway through binding to CCL18.
22405330 Our observations of the PITPNM3 p.Q626H mutation carriers confirm that CORD5 is a disease not to mix with other retinal degenerations mapped to 17p13.
21481794 CCL18 derived from Tumor-associated macrophages (TAMs) lays a critical role in promoting breast cancer metastasis via its receptor, PITPNM3.
20590364 Thus, mutations in PITPNM3 do not appear to be a major cause of cone or cone-rod dystrophy.
18188949 Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
17377520 Our finding on the first mutation in the human homologue of Drosophila rdgB indicates novel pathways and a potential important role of the PITPNM3 in mammalian phototransduction.

AA Sequence

MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSNDLVEQIETMGK      1 - 70
LDEHQGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGCPQRSCKTHVLLLVLHGGNIL     71 - 140
DTGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKFVPCPAICSEAFSLVSHLNPYSHDEGCLSSS    141 - 210
QDHVPLAALPLLAISSPQYQDAVATVIERANQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSA    211 - 280
GPSGDSPASSSRKGSISSTQDTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDC    281 - 350
EAITQHHAFLSSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDG    351 - 420
FQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVPPVSVPRYQRFPLGDGQSLLLADALHTHSPLFLEG    421 - 490
SSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGASRITAKWWGSKRIDYALYCPD    491 - 560
VLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNIKESARLDPAALSPANPREKWLRKRTQVKLR    561 - 630
NVTANHRANDVIAAEDGPQVLVGRFMYGPLDMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYN    631 - 700
VPRPRRLGVGVYPVKMVVRGDQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRH    701 - 770
WQDLGYMILYITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYG    771 - 840
STKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSRMILRKGSFGL    841 - 910
HAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPALSWARGPPKFESVP          911 - 974
//

Text Mined References (14)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24001613 2013 Nir1 promotes invasion of breast cancer cells by binding to chemokine (C-C motif) ligand 18 through the PI3K/Akt/GSK3?/Snail signalling pathway.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22405330 2013 Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
21481794 2011 CCL18 from tumor-associated macrophages promotes breast cancer metastasis via PITPNM3.
20590364 2010 PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18188949 2008 Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
17377520 2007 Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
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