Homo sapiens (human): 348938
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Entry
348938 CDS
T01001
Symbol
NIPAL4, ARCI6, ICHTHYIN, ICHYN, NIPA4, SLC57A6
Name
(RefSeq) NIPA like domain containing 4
KO
K22733
magnesium transporter
Organism
hsa
Homo sapiens (human)
Disease
H00734
Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
02000 Transporters [BR:
hsa02000
]
348938 (NIPAL4)
Transporters [BR:
hsa02000
]
Solute carrier family (SLC)
SLC57: NiPA-like magnesium transporter
348938 (NIPAL4)
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
Mg_trans_NIPA
EamA
DUF5392
CRPA
PycTM
Motif
Other DBs
NCBI-GeneID:
348938
NCBI-ProteinID:
NP_001092757
OMIM:
609383
HGNC:
28018
Ensembl:
ENSG00000172548
UniProt:
Q0D2K0
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Position
5:157460213..157474722
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AA seq
404 aa
AA seq
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MELRVSNTSCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYIGL
GLAFLSSFLIGSSVILKKKGLLRLVATGATRAVDGGFGYLKDAMWWAGFLTMAAGEVANF
GAYAFAPATVVTPLGALSVLISAILSSYFLRESLNLLGKLGCVICVAGSTVMVIHAPEEE
KVTTIMEMASKMKDTGFIVFAVLLLVSCLILIFVIAPRYGQRNILIYIIICSVIGAFSVA
AVKGLGITIKNFFQGLPVVRHPLPYILSLILALSLSTQVNFLNRALDIFNTSLVFPIYYV
FFTTVVVTSSIILFKEWYSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHMHK
NPPPSPAPEPTVIRLEDKNVLVDNIELASTSSPEEKPKVFIIHS
NT seq
1215 nt
NT seq
+upstream
nt +downstream
nt
atggagctgcgggtcagcaacaccagctgcgagaacggttccctgctccacctctactgc
tcctcccaagaagtcctgtgccagattgtcaatgacctcagccctgaggtgcccagcaat
gccacctttcacagctggcaggaaagaatcaggcagaactatggcttctacatcggcctg
ggcctggcattcctgtctagcttcctcatcggcagcagcgtcatcctcaagaagaaaggc
ctcttgcgactcgtggccacgggagccactcgagctgtggatggaggcttcggctacctg
aaagatgcaatgtggtgggctggatttctcaccatggctgctggagaagttgccaacttt
ggagcctacgcatttgcacctgcaacagtcgtcacgcctctgggagcgctgagtgtcctc
ataagtgccatcctctcctcatatttcctgagggagagtctgaacctgctggggaagctg
ggctgtgtgatctgtgtggccggaagcacagtgatggtgatacatgctcctgaggaagag
aaggtcactaccatcatggagatggcttccaagatgaaagacacagggttcatcgtgttt
gctgtgcttctgctggtgtcatgcctcatcctcatctttgtcattgccccacgttacggg
caaaggaatatcctcatctacatcatcatctgctctgtgatcggggccttctctgtggct
gctgtcaaggggctgggcatcaccatcaagaacttcttccaggggctgccagttgtccgg
cacccgctcccctacatcctgtccctcatcctggcactgtccctcagcactcaggtcaac
ttcctcaacagagcactggacattttcaacacttccctggtgttccccatctactacgtg
ttcttcaccacggtggtcgttacctcgtccatcatcctcttcaaggagtggtacagcatg
tctgctgtggacattgcaggcaccctctcgggctttgtcaccatcatcttgggcgtgttc
atgctgcatgctttcaaagacctggacatcagctgcgccagcttgccccacatgcacaaa
aacccacccccttctcccgccccggaacccactgttattagactggaagacaagaacgtc
cttgtggacaatatagaacttgccagcacctcatcaccagaagagaaacccaaagtattt
ataatccattcctga
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