LOCUS Y18265 4668 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for zinc finger protein SALL1.
ACCESSION Y18265
VERSION Y18265.1
KEYWORDS SALL1 gene; transcription factor; zinc finger protein.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4668)
AUTHORS Kohlhase J.
JOURNAL Submitted (15-OCT-1998) to the INSDC. Kohlhase J., University of
Goettingen, Institute for Human Genetics, Gosslerstr. 12d, D-37073,
FRG.
REFERENCE 3
AUTHORS Kohlhase J., Wischermann A., Reichenbach H., Froster U., Engel W.
TITLE Mutations in the SALL1 putative transcription factor gene cause
Townes-Brocks syndrome
JOURNAL Nat Genet 81, 81-83(1998).
REFERENCE 4
AUTHORS Kohlhase J., Schuh R., Dowe G., Kuehnlein R.P., Jaeckle H.,
Schroeder B., Schulz-Schaeffer W., Kretzschmar H.A., Koehler A.,
Mueller U., Raab-Vetter M., Burkhardt E., Engel W., Stick R.
TITLE Isolation, characterization, and organ-specific expression of two
novel human zinc finger genes related to the Drosophila gene spalt
JOURNAL Genomics 38(3), 291-298(1996).
PUBMED 8975705
REFERENCE 6
AUTHORS Kohlhase J., Taschner P.E.M., Burfeind P., Pasche B., Newman B.,
Blanck C., Breuning M.H., ten Kate L.P., Maaswinkel-Mooy P.,
Mitulla B., Seidel J., Kirkpatrick S.J., Pauli R.M.,
Wargowski D.S., Devriendt K., Proesmans W., Gabrielli O.,
Coppa G.V., Wesbyvan-Swaay E., Trembath R.C., Schinzel A.A.,
Reardon W., Seemanova E., Engel W.
TITLE Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
JOURNAL Am. J. Hum. Genet. 64(2), 435-445(1999).
PUBMED 9973281
FEATURES Location/Qualifiers
source 1..4668
/db_xref="H-InvDB:HIT000326075"
/organism="Homo sapiens"
/chromosome="16"
/map="q12.1"
/mol_type="mRNA"
/dev_stage="adult"
/tissue_type="kidney"
/db_xref="taxon:9606"
CDS 1..3975
/gene="SALL1"
/product="zinc finger protein SALL1"
/db_xref="GOA:Q9NSC2"
/db_xref="H-InvDB:HIT000326075.14"
/db_xref="HGNC:HGNC:10524"
/db_xref="InterPro:IPR013087"
/db_xref="InterPro:IPR036236"
/db_xref="UniProtKB/Swiss-Prot:Q9NSC2"
/protein_id="CAB41400.1"
/translation="MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHV
CGRCCAEFFELSDLLLHKKNCTKNQLVLIVNENPGSPPETFSPSPPPDNPDEQMNDTV
NKTDQVDCSDLSEHNGLDREESMEVEAPVANKSGSGTSSGSHSSTAPSSSSSSSSSSG
GGGSSSTGTSAITTSLPQLGDLTTLGNFSVINSNVIIENLQSTKVAVAQFSQEARCGG
ASGGKLAVPALMEQLLALQQQQIHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLR
TSANPLSTLSSHLSQQLAAAAGLAQSLASQSASISGVKQLPPIQLPQSSSGNTIIPSN
SGSSPNMNILAAAVTTPSSEKVASSAGASHVSNPAVSSSSSPAFAISSLLSPASNPLL
PQQASANSVFPSPLPNIGTTAEDLNSLSALAQQRKSKPPNVTAFEAKSTSDEAFFKHK
CRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKGNLKVHFQRHKEKYPHIQM
NPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTSWLDTKPVLPTLTTSVGLPLPPSLPSL
IPFIKTEEPAPIPISHSATSPPGSVKSDSGGPESATRNLGGLPEEAEGSTLPPSGGKS
EESGMVTNSVPTASSSVLSSPAADCGPAGSATTFTNPLLPLMSEQFKAKFPFGGLLDS
AQASETSKLQQLVENIDKKATDPNECIICHRVLSCQSALKMHYRTHTGERPFKCKICG
RAFTTKGNLKTHYSVHRAMPPLRVQHSCPICQKKFTNAVVLQQHIRMHMGGQIPNTPV
PDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDTPKSADASQDSLSSSPL
PLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTNDSSSVGGDMESQSA
GSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGLSPTPVNGGALDL
TSSHAEKIIKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHYRSHTKERPFI
CTVCNRGFSTKGNLKQHMLTHQMRDLPSQLFEPSSNLGPNQNSAVIPANSLSSLIKTE
VNGFVHVSPQDSKDTPTSHVPSGPLSSSATSPVLLPALPRRTPKQHYCNTCGKTFSSS
SALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTPARRGRRLSVDGPMT
FLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGIPP
IPGSLGSGNSSPISGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKE
IVTS"
BASE COUNT 1204 a 1339 c 1058 g 1067 t
ORIGIN
1 atgtcgcgga ggaagcaagc gaagcctcaa catttccaat ccgaccccga agtggcctcg
61 ctcccccggc gagatggaga cacagaaaag ggtcaaccga gtcgccctac taagagcaag
121 gatgcccacg tctgtggccg gtgctgtgcc gagttctttg aattatcaga tcttctgctc
181 cacaagaaga actgtactaa aaatcaatta gttttaatcg taaatgaaaa tccaggctcc
241 ccacccgaaa ccttctcccc cagcccccct cctgataatc ctgatgaaca aatgaatgac
301 acagttaaca aaacagatca agtggactgc agcgaccttt cagaacacaa cggacttgac
361 agggaagagt ccatggaggt ggaggccccg gttgctaaca aaagcggcag cggcacttcc
421 agcggcagcc acagcagtac cgccccaagc agcagcagca gcagcagcag cagcagcggc
481 ggcggcggca gctcctccac aggtacctca gcgatcacaa cctctctacc tcaactcggg
541 gacctgacaa cactgggcaa cttctccgta atcaacagca acgtcatcat cgagaacctc
601 cagagcacca aggtggcggt ggcccagttc tcccaggaag cgaggtgcgg cggggcctct
661 gggggcaagc tggccgtccc agccctcatg gaacaactcc tagctctgca gcagcagcag
721 atccaccagc tgcaattgat cgaacagatt cgtcaccaaa tattgctgtt ggcttctcag
781 aatgcagact tgccaacatc ttctagtcct tctcaaggta ctttacgaac atctgccaac
841 cccttgtcca cgctaagttc ccatttatct cagcagctgg cagcagcagc tggattggca
901 cagagcctcg ccagccaatc tgccagcatt agtggtgtga aacagctacc cccaatccag
961 ctacctcaga gcagttctgg caacaccatc attccatcca acagcggctc ttctcccaat
1021 atgaacatat tggcagcggc agttaccacc ccgtcctctg aaaaagtggc ttcaagtgct
1081 ggggcctccc atgtcagcaa cccagcggtc tcatcatcgt cctcaccagc ttttgcaata
1141 agcagtttat taagtcctgc gtctaatcca cttctacctc agcaagcctc cgctaactcg
1201 gttttcccca gccctttgcc caacatcgga acaactgcag aggatttaaa ctccttgtct
1261 gccttggccc agcaaagaaa aagcaagcca ccaaatgtca ctgcctttga agcgaaaagt
1321 acttccgatg aggcattctt caaacacaag tgcaggttct gcgcgaaggt ctttgggagt
1381 gacagtgcct tgcagatcca cttgcgttcc cataccggag agaggccatt caagtgcaac
1441 atctgcggga acaggttctc caccaagggg aatctgaaag tccactttca gcgccacaaa
1501 gagaaatacc ctcatatcca gatgaacccc tatcctgtgc ctgagcattt ggacaatatc
1561 cccacgagta ctggcatccc atatggcatg tccatccctc cagagaagcc agtcaccagc
1621 tggctagaca ccaaaccagt cctgcctact ctgaccactt cagtcggcct gccgttgccc
1681 ccaagcctcc caagcctcat acccttcatc aagacggaag agccagcccc catccccatc
1741 agccattctg ccaccagccc cccaggctca gtcaaaagtg actccggggg ccctgagtca
1801 gccacaagaa atctaggtgg gctcccagag gaagccgaag ggtccactct gccaccctct
1861 ggtggcaaaa gcgaagagag tggcatggtc accaactcag tcccgacggc gagcagtagc
1921 gtcctgagct ccccagcggc agactgcggc cccgcgggca gtgccaccac cttcaccaac
1981 cctttgttgc cgctcatgtc cgagcagttc aaggccaagt ttccttttgg gggactcctg
2041 gactcagctc aggcatcaga gacgtccaag cttcagcaac tggtagaaaa cattgacaag
2101 aaggccactg accccaatga gtgcatcatc tgtcaccggg ttctcagctg ccagagcgcc
2161 ttgaaaatgc actacaggac acacactggg gagaggccct ttaagtgtaa gatctgtggc
2221 cgggctttca ccacgaaagg gaatcttaaa acccactaca gtgtccatcg tgctatgccc
2281 ccgctcagag tccagcattc ctgccccatc tgccagaaga agttcacgaa cgctgtggtc
2341 ctgcagcagc acatccgaat gcatatggga ggccagatcc ccaacacccc agtccccgac
2401 agctactctg agtccatgga gtctgacaca ggttcctttg atgagaaaaa ttttgatgac
2461 ctagacaact tctctgatga aaacatggaa gactgtcctg agggcagcat ccctgataca
2521 cctaagtctg cagacgcctc ccaagacagc ttatcctctt cgcctttgcc ccttgagatg
2581 tcgagcatcg ctgctttgga aaatcagatg aagatgatca atgctggcct ggcagagcag
2641 ctacaggcca gcctgaagtc agtggagaat gggtccatcg agggggatgt cctgaccaat
2701 gattcatcct cagtgggtgg tgacatggaa agccaaagtg ctggcagccc agccatctca
2761 gagtctacct cttccatgca ggctctgtcc ccgtccaaca gcacgcagga gttccacaag
2821 tcacccagca ttgaggagaa accacagaga gcggtcccaa gcgagtttgc caatggtttg
2881 tctcccaccc cagtgaatgg tggggctttg gatttgacat ctagtcacgc agagaaaatc
2941 atcaaagaag attctttggg gatcctcttc ccttttagag accggggtaa atttaaaaac
3001 actgcttgtg acatttgtgg caaaacattt gcttgtcaga gtgccttgga cattcactat
3061 agaagtcata ccaaagagag accatttatt tgcacagttt gcaatcgtgg cttttccaca
3121 aagggtaatt tgaagcagca catgttgaca catcagatgc gagatctgcc atcccagctc
3181 tttgagccca gttccaacct tggccccaat cagaactcag cggtgattcc cgccaactcg
3241 ttgtcatctc tcatcaagac agaggtcaac ggcttcgtgc atgtttctcc tcaggacagt
3301 aaggacaccc ccaccagtca cgtcccgtct gggcctctgt cttcctctgc cacatcccca
3361 gttctgctcc ctgctctgcc caggagaact cccaagcagc actactgcaa cacatgtggc
3421 aaaaccttct cctcatcgag tgccctgcag attcacgaga gaactcacac tggagagaaa
3481 ccctttgctt gcactatttg tggaagagct ttcacgacta aaggcaatct taaggtacac
3541 atgggcactc acatgtggaa tagcacccct gcacgacggg gtcggcggct ctctgtggat
3601 ggccccatga catttctagg aggcaatccc gtcaagttcc cagaaatgtt ccagaaggat
3661 ttggcggcaa gatcaggaag tggggatcct tccagcttct ggaatcagta tgcagcagcg
3721 ctctccaacg ggctggcgat gaaggccaac gagatctccg tcattcagaa cggtggcatc
3781 cctccaattc ctggaagcct cggcagtggg aacagctcac ctattagtgg gctgacggga
3841 aacctggaga ggctccagaa ctcagagccc aatgctcccc tggccggcct ggagaaaatg
3901 gcaagcagtg agaacggaac caacttccgc ttcacccgct tcgtggagga cagcaaggag
3961 atcgtcacga gttaaagcag ctcgggctgg agacatagca ttcattcctg ttcagaatgc
4021 gacctatggt ggcctcctac tccttgcccc ccaccccgcc ccgccccttc cttctgttcc
4081 ccagatctat gaactacaac attatgaaga cattcttttg taccttgttc aactttagag
4141 ttctaagaaa gcttatttat tagcgatata accttgcttt gcaaacagaa tgcaagcgtt
4201 aactttggtc ttctgtattt tggactaaat actaattgac tagagtgctg taaacttgct
4261 gtaacattta tggcaattgc aagttgccct gctaggcagt tgtaatctgg cattaactta
4321 ttttctatat ccagtttaat atgaatctgg tgttgatgca atgcctcagt gatgcattag
4381 atctctaata aagtctgtat atacatgtac actttgatcc tgctggaaaa ttttatcagc
4441 aaacacattg tctaatcttt caaaacagat ttaaggaaag gactgaaagt acagactgaa
4501 cagtgtggtt ctttgaaagg tttggttttt taatttttat tctaaaattc aacctttttt
4561 ttgtcgattt aaccatttcc attttgaact gctatttgta ttgtgctttt tacttgagtc
4621 gtcttcaatg ttaataagtt tctgtacagt aataagcacg cagaattc
//