KEGG   Homo sapiens (human): 348938
Entry
348938            CDS       T01001                                 

Symbol
NIPAL4, ARCI6, ICHTHYIN, ICHYN, 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)
SSDB
Motif
Pfam: Mg_trans_NIPA EamA DUF5392 CRPA
Other DBs
NCBI-GeneID: 348938
NCBI-ProteinID: NP_001165763
OMIM: 609383
HGNC: 28018
Ensembl: ENSG00000172548
Vega: OTTHUMG00000163497
Pharos: Q0D2K0(Tbio)
UniProt: Q0D2K0
Position
5q33.3
AA seq 447 aa
MPGDSSPGTLPLWDASLSPPLGPDPGGFSRASHAGDKSRPPAPELGSPGAVRPRVGSCAP
GPMELRVSNTSCENGSLLHLYCSSQEVLCQIVNDLSPEVPSNATFHSWQERIRQNYGFYI
GLGLAFLSSFLIGSSVILKKKGLLRLVATGATRAVAAGEVANFGAYAFAPATVVTPLGAL
SVLISAILSSYFLRESLNLLGKLGCVICVAGSTVMVIHAPEEEKVTTIMEMASKMKDTGF
IVFAVLLLVSCLILIFVIAPRYGQRNILIYIIICSVIGAFSVAAVKGLGITIKNFFQGLP
VVRHPLPYILSLILALSLSTQVNFLNRALDIFNTSLVFPIYYVFFTTVVVTSSIILFKEW
YSMSAVDIAGTLSGFVTIILGVFMLHAFKDLDISCASLPHMHKNPPPSPAPEPTVIRLED
KNVLVDNIELASTSSPEEKPKVFIIHS
NT seq 1344 nt   +upstreamnt  +downstreamnt
atgccgggtgactcctccccggggactctcccactctgggacgcgtcactctccccaccc
ctgggtccggaccccggcggcttctcgcgcgcgagccacgcgggggacaagtcgcggcca
cctgctccggagctggggagcccgggcgccgtccgcccgcgcgtcggttcgtgtgccccg
ggccccatggagctgcgggtcagcaacaccagctgcgagaacggttccctgctccacctc
tactgctcctcccaagaagtcctgtgccagattgtcaatgacctcagccctgaggtgccc
agcaatgccacctttcacagctggcaggaaagaatcaggcagaactatggcttctacatc
ggcctgggcctggcattcctgtctagcttcctcatcggcagcagcgtcatcctcaagaag
aaaggcctcttgcgactcgtggccacgggagccactcgagctgtggctgctggagaagtt
gccaactttggagcctacgcatttgcacctgcaacagtcgtcacgcctctgggagcgctg
agtgtcctcataagtgccatcctctcctcatatttcctgagggagagtctgaacctgctg
gggaagctgggctgtgtgatctgtgtggccggaagcacagtgatggtgatacatgctcct
gaggaagagaaggtcactaccatcatggagatggcttccaagatgaaagacacagggttc
atcgtgtttgctgtgcttctgctggtgtcatgcctcatcctcatctttgtcattgcccca
cgttacgggcaaaggaatatcctcatctacatcatcatctgctctgtgatcggggccttc
tctgtggctgctgtcaaggggctgggcatcaccatcaagaacttcttccaggggctgcca
gttgtccggcacccgctcccctacatcctgtccctcatcctggcactgtccctcagcact
caggtcaacttcctcaacagagcactggacattttcaacacttccctggtgttccccatc
tactacgtgttcttcaccacggtggtcgttacctcgtccatcatcctcttcaaggagtgg
tacagcatgtctgctgtggacattgcaggcaccctctcgggctttgtcaccatcatcttg
ggcgtgttcatgctgcatgctttcaaagacctggacatcagctgcgccagcttgccccac
atgcacaaaaacccacccccttctcccgccccggaacccactgttattagactggaagac
aagaacgtccttgtggacaatatagaacttgccagcacctcatcaccagaagagaaaccc
aaagtatttataatccattcctga

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