Homo sapiens (human): 10243
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Entry
10243 CDS
T01001
Symbol
GPHN, GEPH, GPH, GPHRYN, HKPX1, MOCODC
Name
(RefSeq) gephyrin
KO
K15376
gephyrin [EC:
2.10.1.1
2.7.7.75
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00790
Folate biosynthesis
hsa01100
Metabolic pathways
hsa01240
Biosynthesis of cofactors
hsa04727
GABAergic synapse
Module
hsa_M00880
Molybdenum cofactor biosynthesis, GTP => molybdenum cofactor
Network
nt06025
Molybdenum cofactor biosynthesis
Element
N00890
Molybdenum cofactor biosynthesis
Disease
H02311
Molybdenum cofactor deficiency
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09108 Metabolism of cofactors and vitamins
00790 Folate biosynthesis
10243 (GPHN)
09150 Organismal Systems
09156 Nervous system
04727 GABAergic synapse
10243 (GPHN)
Enzymes [BR:
hsa01000
]
2. Transferases
2.7 Transferring phosphorus-containing groups
2.7.7 Nucleotidyltransferases
2.7.7.75 molybdopterin adenylyltransferase
10243 (GPHN)
2.10 Transferring molybdenum- or tungsten-containing groups
2.10.1 Molybdenumtransferases or tungstentransferases with sulfide groups as acceptors
2.10.1.1 molybdopterin molybdotransferase
10243 (GPHN)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
MoCF_biosynth
MoeA_N
MoeA_C
Motif
Other DBs
NCBI-GeneID:
10243
NCBI-ProteinID:
NP_001019389
OMIM:
603930
HGNC:
15465
Ensembl:
ENSG00000171723
Pharos:
Q9NQX3
(Tbio)
UniProt:
Q9NQX3
Structure
PDB
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All DBs
Position
14:66508147..67735355
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AA seq
736 aa
AA seq
DB search
MATEGMILTNHDHQIRVGVLTVSDSCFRNLAEDRSGINLKDLVQDPSLLGGTISAYKIVP
DEIEEIKETLIDWCDEKELNLILTTGGTGFAPRDVTPEATKEVIEREAPGMALAMLMGSL
NVTPLGMLSRPVCGIRGKTLIINLPGSKKGSQECFQFILPALPHAIDLLRDAIVKVKEVH
DELEDLPSPPPPLSPPPTTSPHKQTEDKGVQCEEEEEEKKDSGVASTEDSSSSHITAAAI
AAKIPDSIISRGVQVLPRDTASLSTTPSESPRAQATSRLSTASCPTPKVQSRCSSKENIL
RASHSAVDITKVARRHRMSPFPLTSMDKAFITVLEMTPVLGTEIINYRDGMGRVLAQDVY
AKDNLPPFPASVKDGYAVRAADGPGDRFIIGESQAGEQPTQTVMPGQVMRVTTGAPIPCG
ADAVVQVEDTELIRESDDGTEELEVRILVQARPGQDIRPIGHDIKRGECVLAKGTHMGPS
EIGLLATVGVTEVEVNKFPVVAVMSTGNELLNPEDDLLPGKIRDSNRSTLLATIQEHGYP
TINLGIVGDNPDDLLNALNEGISRADVIITSGGVSMGEKDYLKQVLDIDLHAQIHFGRVF
MKPGLPTTFATLDIDGVRKIIFALPGNPVSAVVTCNLFVVPALRKMQGILDPRPTIIKAR
LSCDVKLDPRPEYHRCILTWHHQEPLPWAQSTGNQMSSRLMSMRSANGLLMLPPKTEQYV
ELHKGEVVDVMVIGRL
NT seq
2211 nt
NT seq
+upstream
nt +downstream
nt
atggcgaccgagggaatgatccttactaaccacgaccatcaaatccgtgtcggagtcctt
acagtgagtgatagttgcttcaggaatcttgcagaagaccgcagtgggataaatctcaaa
gatctcgtacaagatccttctttgttgggtgggactatatcagcatacaagatagtacca
gatgaaatagaagaaatcaaggaaaccctgatagattggtgtgatgaaaaggaacttaat
ttgatattaacaactggaggaacaggatttgcaccacgagatgtcactccagaggccaca
aaagaagtaatagaacgggaagcaccagggatggccctggcaatgctgatgggatcactt
aatgttacacctctgggcatgctctctaggcctgtatgtggaatcagagggaaaacgctc
ataattaacctgccaggtagcaagaaaggatctcaggaatgctttcaattcatactgcca
gctctacctcatgccattgaccttttacgtgatgccattgtaaaagtaaaggaggtgcat
gatgaacttgaagatttgccttccccacctccccctctttcccctcctcctactaccagc
ccccataaacagacagaagacaaaggagttcaatgtgaggaagaggaagaagagaagaaa
gacagtggtgttgcttcaacagaagatagttcctcatcacatataactgcagcagccatt
gctgccaagattccagactccatcatttctcgtggtgttcaggtgctcccacgagacaca
gcctccctcagcactactccttcagaatcgcctcgtgctcaggctacatctcgcctctct
acagcttcctgcccaacaccaaaagtccagtccaggtgcagcagcaaggagaacattctc
agagccagtcacagtgctgtcgatatcaccaaggtggctagaagacatcgcatgtctcct
tttcctctgacatctatggacaaagcctttatcacagtcctggagatgactccggtgctt
gggacagaaatcatcaattaccgagatggaatggggcgagtccttgctcaagatgtatat
gcaaaagacaatttaccccccttcccagcatcagtaaaagatggctatgctgtccgagct
gctgatggcccaggagatcgtttcatcattggggaatcccaagctggtgaacagccaact
cagacagtaatgccaggacaagtcatgcgggttacaacaggtgctccaataccctgcggt
gctgatgcagtagtacaagtggaagataccgaacttatcagggaatcagatgatggcact
gaagaacttgaagtgcgaattctggtgcaagctcggccaggccaagatatcagacccatc
ggccatgacattaaaagaggggaatgtgttttggccaaaggaacccacatgggcccctca
gagattggtcttctggcaactgtaggtgtcacagaggttgaagttaataagtttccagtg
gttgcagtcatgtcaacagggaatgagctgctaaatcctgaagatgacctcttaccaggg
aagattcgagacagcaatcgttcaactcttctagcaacaattcaggaacatggttacccc
acgatcaacttgggtattgtaggagacaacccagatgacttactcaatgccttgaatgag
ggtatcagtcgtgctgatgtcatcatcacatcagggggtgtatccatgggggaaaaggac
tatctcaagcaggtgctggacattgatcttcatgctcagatccattttggcagggttttt
atgaaaccaggcttgccaacaacatttgcaactttggatattgatggtgtaagaaaaata
atctttgcactacctgggaatcctgtatcggctgtggtcacctgcaatctctttgttgtg
cctgcactgaggaaaatgcagggcatcttggatcctcggccaaccatcatcaaagcaagg
ttatcatgtgatgtaaaacttgatcctcgtccagaataccatcggtgtatactaacttgg
catcaccaagaaccactaccttgggcacagagtacaggtaatcaaatgagcagccgtctg
atgagcatgcgcagtgccaatggattgttgatgctacctccaaagacagaacagtacgtg
gagctccacaaaggcgaggtggtggatgtcatggtcattggacggctatga
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