KEGG   Homo sapiens (human): 23154
Entry
23154             CDS       T01001                                 
Symbol
NCDN, NEDIES
Name
(RefSeq) neurochondrin
  KO
K27819  neurochondrin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04724  Glutamatergic synapse
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
Disease
H02892  Neurodevelopmental disorder with infantile epileptic spasms
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04724 Glutamatergic synapse
    23154 (NCDN)
SSDB
Motif
Pfam: Neurochondrin
Other DBs
NCBI-GeneID: 23154
NCBI-ProteinID: NP_001014839
OMIM: 608458
HGNC: 17597
Ensembl: ENSG00000020129
UniProt: Q9UBB6
LinkDB
Position
1:35557799..35566779
AA seq 729 aa
MSCCDLAAAGQLGKASIMASDCEPALNQAEGRNPTLERYLGALREAKNDSEQFAALLLVT
KAVKAGDIDAKTRRRIFDAVGFTFPNRLLTTKEAPDGCPDHVLRALGVALLACFCSDPEL
AAHPQVLNKIPILSTFLTARGDPDDAARRSMIDDTYQCLTAVAGTPRGPRHLIAGGTVSA
LCQAYLGHGYGFDQALALLVGLLAAAETQCWKEAEPDLLAVLRGLSEDFQKAEDASKFEL
CQLLPLFLPPTTVPPECYRDLQAGLARILGSKLSSWQRNPALKLAARLAHACGSDWIPAG
SSGSKFLALLVNLACVEVRLALEETGTEVKEDVVTACYALMELGIQECTRCEQSLLKEPQ
KVQLVSVMKEAIGAVIHYLLQVGSEKQKEPFVFASVRILGAWLAEETSSLRKEVCQLLPF
LVRYAKTLYEEAEEANDLSQQVANLAISPTTPGPTWPGDALRLLLPGWCHLTVEDGPREI
LIKEGAPSLLCKYFLQQWELTSPGHDTSVLPDSVEIGLQTCCHIFLNLVVTAPGLIKRDA
CFTSLMNTLMTSLPALVQQQGRLLLAANVATLGLLMARLLSTSPALQGTPASRGFFAAAI
LFLSQSHVARATPGSDQAVLALSPEYEGIWADLQELWFLGMQAFTGCVPLLPWLAPAALR
SRWPQELLQLLGSVSPNSVKPEMVAAYQGVLVELARANRLCREAMRLQAGEETASHYRMA
ALEQCLSEP
NT seq 2190 nt   +upstreamnt  +downstreamnt
atgtcgtgttgtgacctggctgcggcgggacagttgggcaaggcgagcatcatggcctcg
gattgcgagccagctctgaaccaggcagagggccgaaaccccaccctggagcgctacctg
ggagccctccgtgaggccaagaatgacagcgagcagtttgcagccctgctgctagtgacc
aaggcagtcaaagcaggtgacatagatgccaaaactcggcggcggatcttcgatgctgtc
ggcttcaccttccccaatcgtctcctgaccaccaaggaggcgccggatggctgccctgac
catgttctgcgggctttgggtgtggccctgctggcctgcttctgcagtgaccctgaactg
gccgcccatccccaagtcctgaacaagattcccattcttagcaccttcctcacagcccgg
ggggacccggacgatgctgcccgccgctccatgattgatgacacctaccagtgcctgacg
gctgtagcaggcacacccagagggcctcggcacctcattgctggtggcaccgtgtctgcc
ctatgccaggcatacctggggcacggctatggctttgaccaggccctggcactcctggtg
gggctgctggctgctgccgagacacagtgctggaaggaggcggagcccgacctgctggcc
gtgttgcggggcctcagtgaggatttccagaaagctgaggatgccagcaagtttgagctc
tgccagctgctgcccctctttttgcccccgacaaccgtgccccctgaatgctaccgggat
ctgcaggccgggctggcacgcatcctgggaagcaagctgagctcctggcagcgcaaccct
gcactgaagctggcagcccgcctggcacacgcctgcggctccgactggatcccggcgggc
agctccgggagcaagttcctggccctgctggtgaatctggcgtgcgtggaagtgcggctg
gcactggaggagacgggcacggaggtgaaagaggatgtggtgaccgcctgctatgccctc
atggagttggggatccaggaatgcactcgctgtgagcagtcactgcttaaggagccacag
aaggtgcagctcgtgagcgtcatgaaggaggccataggggctgttatccactacctgctg
caggtggggtcagagaagcagaaggagccctttgtgtttgcctcggtgcggatcctgggt
gcctggctggccgaggagacctcatccttgcgtaaggaggtgtgccagctgctgcccttc
ctcgtccgctatgccaagaccctctacgaggaggccgaggaggccaatgacctttcccag
caggtggccaacctggccatctcccccaccaccccagggcccacctggccaggagacgct
ctccggctcctcctgcctggctggtgccacctgaccgttgaagatgggccccgggagatc
ctgatcaaggaaggggccccctcgcttctgtgcaagtatttcctgcagcagtgggaactc
acatcccctggccacgacacctcggtgctgcctgacagcgtggagattggcctgcagacc
tgctgccacatcttcctcaacctcgtggtcaccgcaccggggctgatcaagcgtgacgcc
tgcttcacatctctaatgaacaccctcatgacgtcgctaccagcactagtgcagcaacag
ggaaggctgcttctggctgctaatgtggccaccctggggctcctcatggcccggctcctt
agcacctctccagctcttcagggaacaccagcatcccgagggttcttcgcagctgccatc
ctcttcctatcacagtcccacgtggcgcgggccaccccgggctcagaccaggcagtgcta
gccctgtcccctgagtatgagggcatctgggccgacctgcaggagctctggttcctgggc
atgcaggccttcaccggctgtgtgcctctgctgccctggctggcccccgctgccctgcgc
tcccgctggccgcaggagctgctccagctgctaggcagtgtcagccccaactctgtcaag
cccgagatggtggccgcctatcagggtgtcctggtggagctggcgcgggccaaccggctg
tgccgggaggccatgaggctgcaggcgggcgaggagacggccagccactaccgcatggct
gccttggagcagtgcctgtcagagccctga

KEGG   Homo sapiens (human): 160622
Entry
160622            CDS       T01001                                 
Symbol
TAMALIN, GRASP
Name
(RefSeq) trafficking regulator and scaffold protein tamalin
  KO
K24053  general receptor for phosphoinositides 1-associated scaffold protein
Organism
hsa  Homo sapiens (human)
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
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]
    160622 (TAMALIN)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 PDZ domain-containing proteins
  Other PDZ domain-containing proteins
   160622 (TAMALIN)
SSDB
Motif
Pfam: PDZ PDZ_6 PDZ_2
Other DBs
NCBI-GeneID: 160622
NCBI-ProteinID: NP_859062
OMIM: 612027
HGNC: 18707
Ensembl: ENSG00000161835
UniProt: Q7Z6J2
Structure
LinkDB
Position
12:52006946..52015889
AA seq 395 aa
MTLRRLRKLQQKEEAAATPDPAARTPDSEVAPAAPVPTPGPPAAAATPGPPADELYAALE
DYHPAELYRALAVSGGTLPRRKGSGFRWKNLSQSPEQQRKVLTLEKEDNQTFGFEIQTYG
LHHREEQRVEMVTFVCRVHESSPAQLAGLTPGDTIASVNGLNVEGIRHREIVDIIKASGN
VLRLETLYGTSIRKAELEARLQYLKQTLYEKWGEYRSLMVQEQRLVHGLVVKDPSIYDTL
ESVRSCLYGAGLLPGSLPFGPLLAVPGRPRGGARRARGDADDAVYHTCFFGDSEPPALPP
PPPPARAFGPGPAETPAVGPGPGPRAALSRSASVRCAGPGGGGGGGAPGALWTEAREQAL
CGPGLRKTKYRSFRRRLLKFIPGLNRSLEEEESQL
NT seq 1188 nt   +upstreamnt  +downstreamnt
atgaccctccgccgactcaggaagctgcagcagaaggaggaggcggcggccaccccggac
cccgccgcccggactcccgactcggaagtcgcgcccgccgctccggtcccgaccccggga
ccccctgccgcagccgccacccctgggcccccagcggacgagctgtacgcggcgctggag
gactatcaccctgccgagctgtaccgcgcgctcgccgtgtccgggggcaccctgccccgc
cgaaagggctcaggattccgctggaagaatctcagccagagtcctgaacagcagcggaaa
gtgctgacgttggagaaggaggataaccagaccttcggctttgagatccagacttatggc
cttcaccaccgggaggagcagcgtgtggaaatggtgacctttgtctgccgagttcatgag
tctagccctgcccagctggctgggctcacaccaggggacaccatcgccagcgtcaatggc
ctgaatgtggaaggcatccggcatcgagagattgtggacatcattaaggcgtcaggcaat
gttctcagactggaaactctatatgggacatcaattcggaaggcagaactggaggctcgt
ctgcagtacctgaagcaaaccctgtatgagaagtggggagagtacaggtccctaatggtg
caggagcagcggctggtgcatggcctggtggtgaaggaccccagcatctacgacacgctg
gagtcggtgcgctcctgcctctacggcgcgggcctgctcccgggctcgctgcccttcggg
cctctgctcgccgtgcccgggcgtccccgcggaggcgcccgacgggccaggggcgacgcc
gacgacgccgtctaccacacgtgcttcttcggggactccgagccgccggcgctgccgccc
ccgccgcccccggcccgcgccttcggcccgggccccgccgagacccctgccgtggggccg
ggccctgggccgcgggccgcgctgagccgcagcgccagtgtgcggtgcgcgggccctggc
gggggcggaggcgggggcgcgccgggcgcgctctggactgaggctcgcgagcaggcccta
tgcggccccggcctgcgcaaaaccaagtaccgcagcttccgccggcggctgctcaagttc
atccccggactcaaccgctccctggaggaggaggagagccagctgtag

KEGG   Homo sapiens (human): 9758
Entry
9758              CDS       T01001                                 
Symbol
FRMPD4, MRX104, PDZD10, PDZK10, XLID104
Name
(RefSeq) FERM and PDZ domain containing 4
  KO
K23956  FERM and PDZ domain-containing protein 4
Organism
hsa  Homo sapiens (human)
Network
nt06544  Neuroactive ligand signaling
  Element
N01881  GRM1/5-interacting partners
Disease
H00480  X-linked intellectual developmental disorder
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]
    9758 (FRMPD4)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  FERM domain-containing proteins
   9758 (FRMPD4)
SSDB
Motif
Pfam: FERM_M PDZ FERM_C_FAK1 PDZ_6 RA_2 PDZ_2 FERM_f0 WW
Other DBs
NCBI-GeneID: 9758
NCBI-ProteinID: NP_055543
OMIM: 300838
HGNC: 29007
Ensembl: ENSG00000169933
UniProt: Q14CM0
Structure
LinkDB
Position
X:11822439..12724523
AA seq 1322 aa
MDVFSFVKIAKLSSHRTKSSGWPPPSGTWGLSQVPPYGWEMTANRDGRDYFINHMTQAIP
FDDPRLESCQIIPPAPRKVEMRRDPVLGFGFVAGSEKPVVVRSVTPGGPSEGKLIPGDQI
VMINDEPVSAAPRERVIDLVRSCKESILLTVIQPYPSPKSAFISAAKKARLKSNPVKVRF
SEEVIINGQVSETVKDNSLLFMPNVLKVYLENGQTKSFRFDCSTSIKDVILTLQEKLSIK
GIEHFSLMLEQRTEGAGTKLLLLHEQETLTQVTQRPSSHKMRCLFRISFVPKDPIDLLRR
DPVAFEYLYVQSCNDVVQERFGPELKYDIALRLAALQMYIATVTTKQTQKISLKYIEKEW
GLETFLPSAVLQSMKEKNIKKALSHLVKANQNLVPPGKKLSALQAKVHYLKFLSDLRLYG
GRVFKATLVQAEKRSEVTLLVGPRYGISHVINTKTNLVALLADFSHVNRIEMFSEEESLV
RVELHVLDVKPITLLMESSDAMNLACLTAGYYRLLVDSRRSIFNMANKKNTATQETGPEN
KGKHNLLGPDWNCIPQMTTFIGEGEQEAQITYIDSKQKTVEITDSTMCPKEHRHLYIDNA
YSSDGLNQQLSQPGEAPCEADYRSLAQRSLLTLSGPETLKKAQESPRGAKVSFIFGDFAL
DDGISPPTLGYETLLDEGPEMLEKQRNLYIGSANDMKGLDLTPEAEGIQFVENSVYANIG
DVKSFQAAEGIEEPLLHDICYAENTDDAEDEDEVSCEEDLVVGEMNQPAILNLSGSSDDI
IDLTSLPPPEGDDNEDDFLLRSLNMAIAAPPPGFRDSSDEEDSQSQAASFPEDKEKGSSL
QNDEIPVSLIDAVPTSAEGKCEKGLDNAVVSTLGALEALSVSEEQQTSDNSGVAILRAYS
PESSSDSGNETNSSEMTESSELATAQKQSENLSRMFLATHEGYHPLAEEQTEFPASKTPA
GGLPPKSSHALAARPATDLPPKVVPSKQLLHSDHMEMEPETMETKSVTDYFSKLHMGSVA
YSCTSKRKSKLADGEGKAPPNGNTTGKKQQGTKTAEMEEEASGKFGTVSSRDSQHLSTFN
LERTAFRKDSQRWYVATEGGMAEKSGLEAATGKTFPRASGLGAREAEGKEEGAPDGETSD
GSGLGQGDRFLTDVTCASSAKDLDNPEDADSSTCDHPSKLPEADESVARLCDYHLAKRMS
SLQSEGHFSLQSSQGSSVDAGCGTGSSGSACATPVESPLCPSLGKHLIPDASGKGVNYIP
SEERAPGLPNHGATFKELHPQTEGMCPRMTVPALHTAINTEPLFGTLRDGCHRLPKIKET
TV
NT seq 3969 nt   +upstreamnt  +downstreamnt
atggatgtcttcagctttgtgaagattgcaaagctttcgagccacaggacgaagtcttca
ggctggccgcctccctcgggaacctggggcttgagccaggtgccgccctatggatgggag
atgacggcaaaccgagatgggcgagactacttcatcaatcacatgacacaggcaatccct
tttgacgaccctcggttagagagctgccaaatcatccctccggctcctcggaaggtggag
atgagaagggaccccgtgctgggatttggttttgtggcaggcagtgaaaagccagtggtc
gttcgctcagtaacaccaggtggcccctctgaaggcaagctgatcccgggagatcagatt
gtaatgattaatgatgaaccggtcagcgctgcacccagagagcgggtcatcgatctggtc
agaagctgcaaagaatcgatactcctcactgtcattcagccttacccttctcccaaatca
gcatttattagtgctgcaaaaaaggcaagattaaagtccaatcctgtcaaagtacgcttc
tctgaggaggtcatcatcaacggccaagtgtcggaaactgttaaggacaactcacttctt
tttatgccaaatgttttgaaagtctatctggaaaatgggcagaccaaatcatttcgtttt
gactgcagcacttccattaaggatgtcatcttaacccttcaagagaagctctccatcaaa
ggcattgaacacttctctctcatgctggagcagaggacagaaggggctggaacgaagctg
ctcttgcttcatgaacaggagactctaactcaggtgacacagaggcccagctcccataag
atgagatgtcttttccgaattagcttcgtcccaaaagatccaattgaccttttaaggaga
gatccagttgctttcgagtatctctatgttcagagttgtaacgatgtggttcaggagcga
tttgggccggagctgaaatatgacatagccctgcggctggccgcattacaaatgtacatt
gcaaccgttaccaccaagcaaacgcagaaaatctccctcaaatacatcgaaaaagaatgg
ggattagagacttttcttccctctgctgtgctgcaaagcatgaaagagaagaacataaag
aaagcactttcacaccttgtcaaagcaaatcaaaacttggtaccaccgggtaaaaagctc
tctgcactacaagccaaggtccattatctcaagttcctcagtgacctacgattgtatggg
ggccgtgtgttcaaggcaacattagtgcaggcagaaaagcgctcggaagtgactctcctg
gttgggccccggtatggcataagccatgtcatcaacaccaaaaccaatctggtggctctt
ttagccgactttagccacgtcaacaggatcgaaatgttttccgaggaggagagcttggtg
cgggtagaactccacgtgctagatgtgaagcctatcacgcttctgatggaatcctcagat
gccatgaacctggcctgcttgacggctggatactaccggctgcttgttgattccaggagg
tcgatatttaacatggccaacaagaaaaacacagcgacccaggaaacaggacctgaaaac
aaggggaagcataacctccttggcccagattggaactgtataccccaaatgaccaccttt
attggcgaaggggaacaagaagcccagataacatacatagattcaaagcagaagacggtg
gagatcacagacagcaccatgtgtccaaaagagcaccggcacttgtacatagacaatgcc
tatagttcagatggacttaaccagcagctgagccagcccggggaggccccctgtgaggca
gactacagaagtctagctcagcggtccctattgaccctctcaggaccagaaactctgaag
aaagcacaggaatctccgagaggagctaaagtgtcctttatttttggagacttcgccttg
gatgatggtattagtcccccaacccttggctatgaaacgctactagatgagggtcctgaa
atgctggagaagcagagaaatctctacattggcagtgccaatgacatgaagggcctggat
ctcactccagaggcagagggcatccagtttgtggaaaattctgtttatgcaaacataggc
gatgtgaagagcttccaggccgcggaggggatcgaggaacccctcttgcatgacatctgt
tatgcagaaaacactgatgacgcggaggacgaggacgaggtgagctgcgaggaggacctc
gtggtgggggagatgaaccagccggccatcctcaacctgtctgggtcaagcgatgacatc
attgacctcacatccctgccccctccagaaggtgatgacaatgaggatgacttcctgttg
cgttccttgaacatggccattgccgcacccccacctggctttagagacagttcagatgaa
gaggactctcagagccaggcagcttccttccccgaggacaaggagaaaggcagcagcctg
caaaatgatgagatccccgtgtccctcattgacgctgtgcccaccagcgccgaaggcaag
tgtgagaagggactggataatgccgtcgtctccacgctgggagctctagaggctctatcc
gtgtcagaagaacagcagaccagtgacaattcaggtgtagccatcttgcgggcttatagt
cctgagtcttcgtcagactcgggcaatgaaactaactcttctgaaatgactgagagttct
gaactggccacagcacaaaaacagtcagaaaacctctcccgcatgttcttggccactcac
gaaggctaccacccccttgcagaagagcagaccgagttcccggcctccaagacccccgct
gggggcttgcctccaaagtcctcgcacgccctggctgctaggccagcaaccgacctcccg
cccaaagttgtgccttccaagcagttacttcactcagaccacatggagatggagcctgaa
actatggagactaagtcggtcactgactattttagcaaactgcacatggggtcggtggca
tactcctgcactagcaaaaggaaaagcaagctggccgatggtgaggggaaggcaccccct
aatgggaacacaacaggaaaaaaacagcaggggaccaaaacggcagagatggaggaggag
gccagtggtaaatttggtactgtgtcttcacgagacagtcaacacctgagcacttttaat
ctggagagaactgcctttcgcaaggacagtcaaagatggtatgtggccactgaaggtggg
atggctgaaaaaagtggattagaagcagcaacagggaaaacctttccaagagcttctggt
cttggggcaagggaggccgaagggaaggaagaaggagctcctgatggagaaaccagtgat
ggctcaggacttggtcaaggggaccgcttcttaactgacgtgacctgtgcatcttcagcc
aaagacttagataacccagaggacgctgactcgtccacctgcgaccatccttccaagctt
cctgaggctgatgagagtgtggcccgcctttgtgactaccacttggccaagcggatgtca
tcactgcaaagcgagggccatttttctctgcagagctcccaaggctcttcagtggatgca
ggctgtggcacaggcagcagtggcagtgcctgtgccacacccgtggagtcgccgctctgc
ccctccctggggaagcacttgattcctgacgcttctgggaaaggcgtgaattacattcct
tcagaggagagagcccctgggcttcccaaccacggagccacctttaaggaactgcaccca
cagacagaagggatgtgtccacggatgacagtgcctgctctgcacacagccattaacacc
gaacccctgtttggcacattgagagatggatgccatcggctccccaagattaaggaaacc
acagtgtag

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