KEGG   Homo sapiens (human): 389692
Entry
389692            CDS       T01001                                 
Symbol
MAFA, INSDM, RIPE3b1, hMafA
Name
(RefSeq) MAF bZIP transcription factor A
  KO
K07595  transcription factor MAFA
Organism
hsa  Homo sapiens (human)
Pathway
hsa04930  Type II diabetes mellitus
hsa04950  Maturity onset diabetes of the young
Disease
H02806  Insulinomatosis and diabetes mellitus syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    389692 (MAFA)
   04950 Maturity onset diabetes of the young
    389692 (MAFA)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    389692 (MAFA)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic leucine zipper (bZIP)
   AP-1(-like) components, Maf
    389692 (MAFA)
SSDB
Motif
Pfam: bZIP_Maf Maf_N bZIP_1 KASH_CCD
Other DBs
NCBI-GeneID: 389692
NCBI-ProteinID: NP_963883
OMIM: 610303
HGNC: 23145
Ensembl: ENSG00000182759
UniProt: Q8NHW3
Structure
LinkDB
Position
8:complement(143428064..143430732)
AA seq 353 aa
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCS
SVPSSPSFCAPSPGTGGGGGAGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMS
GYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAAAAYEAFRGPGFAGGGGADDM
GAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL
NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEV
GRLAKERDLYKEKYEKLAGRGGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL
NT seq 1062 nt   +upstreamnt  +downstreamnt
atggccgcggagctggcgatgggcgccgagctgcccagcagcccgctggccatcgagtac
gtcaacgacttcgacctgatgaagttcgaggtgaagaaggagcctcccgaggccgagcgc
ttctgccaccgcctgccgccaggctcgctgtcctcgacgccgctcagcacgccctgctcc
tccgtgccctcctcgcccagcttctgcgcgcccagcccgggcaccggcggcggcggcggc
gcggggggcggcggcggctcgtctcaggccgggggcgcccccgggccgccgagcgggggc
cccggcgccgtcgggggcacctcggggaagccggcgctggaggatctgtactggatgagc
ggctaccagcatcacctcaaccccgaggcgctcaacctgacgcccgaggacgcggtggag
gcgctcatcggcagcggccaccacggcgcgcaccacggcgcgcaccacccggcggccgcc
gcagcctacgaggctttccgcggcccgggcttcgcgggcggcggcggagcggacgacatg
ggcgccggccaccaccacggcgcgcaccacgccgcccaccatcaccacgccgcccaccac
caccaccaccaccaccaccaccatggcggcgcgggacacggcggtggcgcgggccaccac
gtgcgcctggaggagcgcttctccgacgaccagctggtgtccatgtcggtgcgcgagctg
aaccggcagctccgcggcttcagcaaggaggaggtcatccggctcaagcagaagcggcgc
acgctcaagaaccgcggctacgcgcagtcctgccgcttcaagcgggtgcagcagcggcac
attctggagagcgagaagtgccaactccagagccaggtggagcagctgaagctggaggtg
gggcgcctggccaaagagcgggacctgtacaaggagaaatacgagaagctggcgggccgg
ggcggccccgggagcgcgggcggggccggtttcccgcgggagccttcgccgccgcaggcc
ggtcccggcggggccaagggcacggccgacttcttcctgtag

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