KEGG   Homo sapiens (human): 6720
Entry
6720              CDS       T01001                                 
Symbol
SREBF1, HMD, IFAP2, SREBP1, bHLHd1
Name
(RefSeq) sterol regulatory element binding transcription factor 1
  KO
K07197  sterol regulatory element-binding transcription factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04152  AMPK signaling pathway
hsa04910  Insulin signaling pathway
hsa04931  Insulin resistance
hsa04932  Non-alcoholic fatty liver disease
hsa04936  Alcoholic liver disease
Disease
H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04152 AMPK signaling pathway
    6720 (SREBF1)
 09150 Organismal Systems
  09152 Endocrine system
   04910 Insulin signaling pathway
    6720 (SREBF1)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04936 Alcoholic liver disease
    6720 (SREBF1)
   04932 Non-alcoholic fatty liver disease
    6720 (SREBF1)
   04931 Insulin resistance
    6720 (SREBF1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6720 (SREBF1)
   04131 Membrane trafficking [BR:hsa04131]
    6720 (SREBF1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix/leucine zipper (bHLH-ZIP)
   Ubiquitous bHLH-ZIP factors
    6720 (SREBF1)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    6720 (SREBF1)
 Autophagy
  Mitophagy
   Other mitophagy associated  proteins
    6720 (SREBF1)
SSDB
Motif
Pfam: HLH
Other DBs
NCBI-GeneID: 6720
NCBI-ProteinID: NP_004167
OMIM: 184756
HGNC: 11289
Ensembl: ENSG00000072310
UniProt: P36956
Structure
Position
17:complement(17811334..17836986)
AA seq 1147 aa
MDEPPFSEAALEQALGEPCDLDAALLTDIEDMLQLINNQDSDFPGLFDPPYAGSGAGGTD
PASPDTSSPGSLSPPPATLSSSLEAFLSGPQAAPSPLSPPQPAPTPLKMYPSMPAFSPGP
GIKEESVPLSILQTPTPQPLPGALLPQSFPAPAPPQFSSTPVLGYPSPPGGFSTGSPPGN
TQQPLPGLPLASPPGVPPVSLHTQVQSVVPQQLLTVTAAPTAAPVTTTVTSQIQQVPVLL
QPHFIKADSLLLTAMKTDGATVKAAGLSPLVSGTTVQTGPLPTLVSGGTILATVPLVVDA
EKLPINRLAAGSKAPASAQSRGEKRTAHNAIEKRYRSSINDKIIELKDLVVGTEAKLNKS
AVLRKAIDYIRFLQHSNQKLKQENLSLRTAVHKSKSLKDLVSACGSGGNTDVLMEGVKTE
VEDTLTPPPSDAGSPFQSSPLSLGSRGSGSGGSGSDSEPDSPVFEDSKAKPEQRPSLHSR
GMLDRSRLALCTLVFLCLSCNPLASLLGARGLPSPSDTTSVYHSPGRNVLGTESRDGPGW
AQWLLPPVVWLLNGLLVLVSLVLLFVYGEPVTRPHSGPAVYFWRHRKQADLDLARGDFAQ
AAQQLWLALRALGRPLPTSHLDLACSLLWNLIRHLLQRLWVGRWLAGRAGGLQQDCALRV
DASASARDAALVYHKLHQLHTMGKHTGGHLTATNLALSALNLAECAGDAVSVATLAEIYV
AAALRVKTSLPRALHFLTRFFLSSARQACLAQSGSVPPAMQWLCHPVGHRFFVDGDWSVL
STPWESLYSLAGNPVDPLAQVTQLFREHLLERALNCVTQPNPSPGSADGDKEFSDALGYL
QLLNSCSDAAGAPAYSFSISSSMATTTGVDPVAKWWASLTAVVIHWLRRDEEAAERLCPL
VEHLPRVLQESERPLPRAALHSFKAARALLGCAKAESGPASLTICEKASGYLQDSLATTP
ASSSIDKAVQLFLCDLLLVVRTSLWRQQQPPAPAPAAQGTSSRPQASALELRGFQRDLSS
LRRLAQSFRPAMRRVFLHEATARLMAGASPTRTHQLLDRSLRRRAGPGGKGGAVAELEPR
PTRREHAEALLLASCYLPPGFLSAPGQRVGMLAEAARTLEKLGDRRLLHDCQQMLMRLGG
GTTVTSS
NT seq 3444 nt   +upstreamnt  +downstreamnt
atggacgagccacccttcagcgaggcggctttggagcaggcgctgggcgagccgtgcgat
ctggacgcggcgctgctgaccgacatcgaagacatgcttcagcttatcaacaaccaagac
agtgacttccctggcctatttgacccaccctatgctgggagtggggcagggggcacagac
cctgccagccccgataccagctccccaggcagcttgtctccacctcctgccacattgagc
tcctctcttgaagccttcctgagcgggccgcaggcagcgccctcacccctgtcccctccc
cagcctgcacccactccattgaagatgtacccgtccatgcccgctttctcccctgggcct
ggtatcaaggaagagtcagtgccactgagcatcctgcagacccccaccccacagcccctg
ccaggggccctcctgccacagagcttcccagccccagccccaccgcagttcagctccacc
cctgtgttaggctaccccagccctccgggaggcttctctacaggaagccctcccgggaac
acccagcagccgctgcctggcctgccactggcttccccgccaggggtcccgcccgtctcc
ttgcacacccaggtccagagtgtggtcccccagcagctactgacagtcacagctgccccc
acggcagcccctgtaacgaccactgtgacctcgcagatccagcaggtcccggtcctgctg
cagccccacttcatcaaggcagactcgctgcttctgacagccatgaagacagacggagcc
actgtgaaggcggcaggtctcagtcccctggtctctggcaccactgtgcagacagggcct
ttgccgaccctggtgagtggcggaaccatcttggcaacagtcccactggtcgtagatgcg
gagaagctgcctatcaaccggctcgcagctggcagcaaggccccggcctctgcccagagc
cgtggagagaagcgcacagcccacaacgccattgagaagcgctaccgctcctccatcaat
gacaaaatcattgagctcaaggatctggtggtgggcactgaggcaaagctgaataaatct
gctgtcttgcgcaaggccatcgactacattcgctttctgcaacacagcaaccagaaactc
aagcaggagaacctaagtctgcgcactgctgtccacaaaagcaaatctctgaaggatctg
gtgtcggcctgtggcagtggagggaacacagacgtgctcatggagggcgtgaagactgag
gtggaggacacactgaccccacccccctcggatgctggctcacctttccagagcagcccc
ttgtcccttggcagcaggggcagtggcagcggtggcagtggcagtgactcggagcctgac
agcccagtctttgaggacagcaaggcaaagccagagcagcggccgtctctgcacagccgg
ggcatgctggaccgctcccgcctggccctgtgcacgctcgtcttcctctgcctgtcctgc
aaccccttggcctccttgctgggggcccgggggcttcccagcccctcagataccaccagc
gtctaccatagccctgggcgcaacgtgctgggcaccgagagcagagatggccctggctgg
gcccagtggctgctgcccccagtggtctggctgctcaatgggctgttggtgctcgtctcc
ttggtgcttctctttgtctacggtgagccagtcacacggccccactcaggccccgccgtg
tacttctggaggcatcgcaagcaggctgacctggacctggcccggggagactttgcccag
gctgcccagcagctgtggctggccctgcgggcactgggccggcccctgcccacctcccac
ctggacctggcttgtagcctcctctggaacctcatccgtcacctgctgcagcgtctctgg
gtgggccgctggctggcaggccgggcagggggcctgcagcaggactgtgctctgcgagtg
gatgctagcgccagcgcccgagacgcagccctggtctaccataagctgcaccagctgcac
accatggggaagcacacaggcgggcacctcactgccaccaacctggcgctgagtgccctg
aacctggcagagtgtgcaggggatgccgtgtctgtggcgacgctggccgagatctatgtg
gcggctgcattgagagtgaagaccagtctcccacgggccttgcattttctgacacgcttc
ttcctgagcagtgcccgccaggcctgcctggcacagagtggctcagtgcctcctgccatg
cagtggctctgccaccccgtgggccaccgtttcttcgtggatggggactggtccgtgctc
agtaccccatgggagagcctgtacagcttggccgggaacccagtggaccccctggcccag
gtgactcagctattccgggaacatctcttagagcgagcactgaactgtgtgacccagccc
aaccccagccctgggtcagctgatggggacaaggaattctcggatgccctcgggtacctg
cagctgctgaacagctgttctgatgctgcgggggctcctgcctacagcttctccatcagt
tccagcatggccaccaccaccggcgtagacccggtggccaagtggtgggcctctctgaca
gctgtggtgatccactggctgcggcgggatgaggaggcggctgagcggctgtgcccgctg
gtggagcacctgccccgggtgctgcaggagtctgagagacccctgcccagggcagctctg
cactccttcaaggctgcccgggccctgctgggctgtgccaaggcagagtctggtccagcc
agcctgaccatctgtgagaaggccagtgggtacctgcaggacagcctggctaccacacca
gccagcagctccattgacaaggccgtgcagctgttcctgtgtgacctgcttcttgtggtg
cgcaccagcctgtggcggcagcagcagcccccggccccggccccagcagcccagggcacc
agcagcaggccccaggcttccgcccttgagctgcgtggcttccaacgggacctgagcagc
ctgaggcggctggcacagagcttccggcccgccatgcggagggtgttcctacatgaggcc
acggcccggctgatggcgggggccagccccacacggacacaccagctcctcgaccgcagt
ctgaggcggcgggcaggccccggtggcaaaggaggcgcggtggcggagctggagccgcgg
cccacgcggcgggagcacgcggaggccttgctgctggcctcctgctacctgccccccggc
ttcctgtcggcgcccgggcagcgcgtgggcatgctggctgaggcggcgcgcacactcgag
aagcttggcgatcgccggctgctgcacgactgtcagcagatgctcatgcgcctgggcggt
gggaccactgtcacttccagctag

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