KEGG   Homo sapiens (human): 7369
Entry
7369              CDS       T01001                                 

Gene name
UMOD, ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
Definition
(RefSeq) uromodulin
  KO
K18274  uromodulin
Organism
hsa  Homo sapiens (human)
Disease
H00541  Autosomal dominant tubulointerstitial kidney disease
H02011  Familial juvenile hyperuricemic nephropathy
H02012  Medullary cystic kidney disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    7369 (UMOD)
   00537 Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
    7369 (UMOD)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   7369 (UMOD)
Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
 Others
  7369 (UMOD)
SSDB
Motif
Pfam: Zona_pellucida EGF_CA EGF_3 cEGF EGF hEGF FXa_inhibition EGF_MSP1_1
Other DBs
NCBI-GeneID: 7369
NCBI-ProteinID: NP_001008390
OMIM: 191845
HGNC: 12559
Ensembl: ENSG00000169344
Vega: OTTHUMG00000131488
Pharos: P07911(Tbio)
UniProt: P07911
LinkDB
Position
16p12.3
AA seq 640 aa
MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDG
LTCVDLDECAIPGAHNCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHC
HALATCVNVVGSYLCVCPAGYRGDGWHCECSPGSCGPGLDCVPEGDALVCADPCQAHRTL
DEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNTAAPMWLNGTHPSSDE
GIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC
SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMY
LSDSRCSGFNDRDNRDWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIK
INFACSYPLDMKVSLKTALQPMVSALNIRVGGTGMFTVRMALFQTPSYTQPYQGSSVTLS
TEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQDRCPHTRDSTIQVVEN
GESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLN
LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ
NT seq 1923 nt   +upstreamnt  +downstreamnt
atggggcagccatctctgacttggatgctgatggtggtggtggcctcttggttcatcaca
actgcagccactgacacctcagaagcaagatggtgctctgaatgtcacagcaatgccacc
tgcacggaggatgaggccgttacgacgtgcacctgtcaggagggcttcaccggcgatggc
ctgacctgcgtggacctggatgagtgcgccattcctggagctcacaactgctccgccaac
agcagctgcgtaaacacgccaggctccttctcctgcgtctgccccgaaggcttccgcctg
tcgcccggtctcggctgcacagacgtggatgagtgcgctgagcctgggcttagccactgc
cacgccctggccacatgtgtcaatgtggtgggcagctacttgtgcgtatgccccgcgggc
taccggggggatggatggcactgtgagtgctccccgggctcctgcgggccggggttggac
tgcgtgcccgagggcgacgcgctcgtgtgcgcggatccgtgccaggcgcaccgcaccctg
gacgagtactggcgcagcaccgagtacggggagggctacgcctgcgacacggacctgcgc
ggctggtaccgcttcgtgggccagggcggtgcgcgcatggccgagacctgcgtgccagtc
ctgcgctgcaacacggccgcccccatgtggctcaatggcacgcatccgtccagcgacgag
ggcatcgtgagccgcaaggcctgcgcgcactggagcggccactgctgcctgtgggatgcg
tccgtccaggtgaaggcctgtgccggcggctactacgtctacaacctgacagcgcccccc
gagtgtcacctggcgtactgcacagaccccagctccgtggaggggacgtgtgaggagtgc
agtatagacgaggactgcaaatcgaataatggcagatggcactgccagtgcaaacaggac
ttcaacatcactgatatctccctcctggagcacaggctggaatgtggggccaatgacatg
aaggtgtcgctgggcaagtgccagctgaagagtctgggcttcgacaaggtcttcatgtac
ctgagtgacagccggtgctcgggcttcaatgacagagacaaccgggactgggtgtctgta
gtgaccccagcccgggatggcccctgtgggacagtgttgacgaggaatgaaacccatgcc
acttacagcaacaccctctacctggcagatgagatcatcatccgtgacctcaacatcaaa
atcaactttgcatgctcctaccccctggacatgaaagtcagcctgaagaccgccctacag
ccaatggtcagtgctctaaacatcagagtgggcgggaccggcatgttcaccgtgcggatg
gcgctcttccagaccccttcctacacgcagccctaccaaggctcctccgtgacactgtcc
actgaggcttttctctacgtgggcaccatgttggatgggggcgacctgtcccgatttgca
ctgctcatgaccaactgctatgccacacccagtagcaatgccacggaccccctgaagtac
ttcatcatccaggacagatgcccacacactagagactcaactatccaagtggtggagaat
ggggagtcctcccagggccgattttccgtccagatgttccggtttgctggaaactatgac
ctagtctacctgcactgtgaagtctatctctgtgacaccatgaatgaaaagtgcaagcct
acctgctctgggaccagattccgaagtgggagtgtcatagatcaatcccgtgtcctgaac
ttgggtcccatcacacggaaaggtgtccaggccacagtctcaagggcttttagcagcttg
gggctcctgaaagtctggctgcctctgcttctctcggccaccttgaccctgacttttcag
tga

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