KEGG   Homo sapiens (human): 6299
Entry
6299              CDS       T01001                                 

Gene name
SALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794
Definition
(RefSeq) spalt like transcription factor 1
  KO
K19871  sal-like protein
Organism
hsa  Homo sapiens (human)
Disease
H00573  Townes-Brocks syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    6299 (SALL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Heterochromatin formation proteins
   Other heterochromatin formation proteins
    6299 (SALL1)
SSDB
Motif
Pfam: zf-C2H2 zf-C2H2_4 zf-C2H2_jaz zf-H2C2_2 zf-met zf-C2H2_6 zf-C2HC_2 zf-C2H2_2 zf-Di19 IZUMO zf-C2HE DUF3268 zf-C2H2_8 DUF2225
Other DBs
NCBI-GeneID: 6299
NCBI-ProteinID: NP_002959
OMIM: 602218
HGNC: 10524
Ensembl: ENSG00000103449
Vega: OTTHUMG00000133176
Pharos: Q9NSC2(Tbio)
UniProt: Q9NSC2
LinkDB
Position
16q12.1
AA seq 1324 aa
MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLL
HKKNCTKNQLVLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLD
REESMEVEAPVANKSGSGTSSGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLG
DLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGGASGGKLAVPALMEQLLALQQQQ
IHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSANPLSTLSSHLSQQLAAAAGLA
QSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTTPSSEKVASSA
GASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLS
ALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCN
ICGNRFSTKGNLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTS
WLDTKPVLPTLTTSVGLPLPPTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPES
ATRNLGGLPEEAEGSTLPPSGGKSEESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTN
PLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSA
LKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPICQKKFTNAVV
LQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDT
PKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTN
DSSSVGGDMESQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGL
SPTPVNGGALDLTSSHAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHY
RSHTKERPFICTVCNRGFSTKGNLKQHMLTHQMRDLPSQLFEPSSNLGPNQNSAVIPANS
LSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPALPRRTPKQHYCNTCG
KTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVD
GPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGI
PPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKE
IVTS
NT seq 3975 nt   +upstreamnt  +downstreamnt
atgtcgcggaggaagcaagcgaagcctcaacatttccaatccgaccccgaagtggcctcg
ctcccccggcgagatggagacacagaaaagggtcaaccgagtcgccctactaagagcaag
gatgcccacgtctgtggccggtgctgtgccgagttctttgaattatcagatcttctgctc
cacaagaagaactgtactaaaaatcaattagttttaatcgtaaatgaaaatccagcctcc
ccacccgaaaccttctcccccagcccccctcctgataatcctgatgaacaaatgaatgac
acagttaacaaaacagatcaagtggactgcagcgacctttcagaacacaacggacttgac
agggaagagtccatggaggtggaggccccggttgctaacaaaagcggcagcggcacttcc
agcggcagccacagcagtaccgccccaagcagcagcagcagcagcagcagcagcagcggc
ggcggcggcagctcctccacaggtacctcagcgatcacaacctctctacctcaactcggg
gacctgacaacactgggcaacttctccgtaatcaacagcaacgtcatcatcgagaacctc
cagagcaccaaggtggcggtggcccagttctcccaggaagcgaggtgcggcggggcctct
gggggcaagctggccgtcccagccctcatggaacaactcctagctctgcagcagcagcag
atccaccagctgcaattgatcgaacagattcgtcaccaaatattgctgttggcttctcag
aatgcagacttgccaacatcttctagtccttctcaaggtactttacgaacatctgccaac
cccttgtccacgctaagttcccatttatctcagcagctggcagcagcagctggattggca
cagagcctcgccagccaatctgccagcattagtggtgtgaaacagctacccccaatccag
ctacctcagagcagttctggcaacaccatcattccatccaacagcggctcttctcccaat
atgaacatattggcagcggcagttaccaccccgtcctctgaaaaagtggcttcaagtgct
ggggcctcccatgtcagcaacccagcggtctcatcatcgtcctcaccagcttttgcaata
agcagtttattaagtcctgcgtctaatccacttctacctcagcaagcctccgctaactcg
gttttccccagccctttgcccaacatcggaacaactgcagaggatttaaactccttgtct
gccttggcccagcaaagaaaaagcaagccaccaaatgtcactgcctttgaagcgaaaagt
acttccgatgaggcattcttcaaacacaagtgcaggttctgcgcgaaggtctttgggagt
gacagtgccttgcagatccacttgcgttcccataccggagagaggccattcaagtgcaac
atctgcgggaacaggttctccaccaaggggaatctgaaagtccactttcagcgccacaaa
gagaaataccctcatatccagatgaacccctatcctgtgcctgagcatttggacaatatc
cccacgagtactggcatcccatatggcatgtccatccctccagagaagccagtcaccagc
tggctagacaccaaaccagtcctgcctactctgaccacttcagtcggcctgccgttgccc
ccaaccctcccaagcctcatacccttcatcaagacggaagagccagcccccatccccatc
agccattctgccaccagccccccaggctcagtcaaaagtgactccgggggccctgagtca
gccacaagaaacctaggtgggctcccagaggaagccgaagggtccactctgccaccctct
ggtggcaaaagcgaagagagtggcatggtcaccaactcagtcccgacggcgagcagtagc
gtcctgagctccccagcggcagactgcggccccgcgggcagtgccaccaccttcaccaac
cctttgttgccgctcatgtccgagcagttcaaggccaagtttccttttgggggactcctg
gactcagctcaggcatcagagacgtccaagcttcagcaactggtagaaaacattgacaag
aaggccactgaccccaatgagtgcatcatctgccaccgggttctcagctgccagagcgcc
ttgaaaatgcactacaggacacacactggggagaggccctttaagtgtaagatctgtggc
cgggctttcaccacgaaagggaatcttaaaacccactacagtgtccatcgtgctatgccc
ccgctcagagtccagcattcctgccccatctgccagaagaagttcacgaacgctgtggtc
ctgcagcagcacatccgaatgcatatgggaggccagatccccaacaccccagtccccgac
agctactctgagtccatggagtctgacacaggttcctttgatgagaaaaattttgatgac
ctagacaacttctctgatgaaaacatggaagactgtcctgagggcagcatccctgataca
cctaagtctgcagacgcctcccaagacagcttatcctcttcgcctttgcccctcgagatg
tcgagcatcgctgctttggaaaatcagatgaagatgatcaatgctggcctggcagagcag
ctacaggccagcctgaagtcagtggagaatgggtccatcgagggggatgtcctgaccaat
gattcatcctcagtgggtggtgacatggaaagccaaagtgctggcagcccagccatctca
gagtctacctcttccatgcaggctctgtccccgtccaacagcacgcaggagttccacaag
tcacccagcattgaggagaaaccacagagagcggtcccaagcgagtttgccaatggtttg
tctcccaccccagtgaatggtggggctttggatttgacatctagtcacgcagagaaaatc
atcaaagaagattctttggggatcctcttcccttttagagaccggggtaaatttaaaaac
actgcttgtgacatttgtggcaaaacatttgcttgtcagagtgccttggacattcactat
agaagtcataccaaagagagaccatttatttgcacagtttgcaatcgtggcttttccaca
aagggtaatttgaagcagcacatgttgacacatcagatgcgagatctgccatcccagctc
tttgagcccagttccaaccttggccccaatcagaactcagcggtgattcccgccaactcg
ttgtcatctctcatcaagacagaggtcaacggcttcgtgcatgtttctcctcaggacagt
aaggacacccccaccagtcacgtcccgtctgggcctctgtcttcctctgccacatcccca
gttctgctccctgctctgcccaggagaactcccaagcagcactactgcaacacatgtggc
aaaaccttctcctcatcgagtgccctgcagattcacgagagaactcacactggagagaaa
ccctttgcttgcactatttgtggaagagctttcacgactaaaggcaatcttaaggtacac
atgggcactcacatgtggaatagcacccctgcacgacggggtcggcggctctctgtggat
ggccccatgacatttctaggaggcaatcccgtcaagttcccagaaatgttccagaaggat
ttggcggcaagatcaggaagtggggatccttccagcttctggaatcagtatgcagcagcg
ctctccaacgggctggcgatgaaggccaacgagatctccgtcattcagaacggtggcatc
cctccaattcctggaagcctcggcagtgggaacagctcacctgttagtgggctgacggga
aacctggagaggctccagaactcagagcccaatgctcccctggccggcctggagaaaatg
gcaagcagtgagaacggaaccaacttccgcttcacccgcttcgtggaggacagcaaggag
atcgtcacgagttaa

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