Q9NSC2 (SALL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sal-like protein 1

Alternative name(s):
Spalt-like transcription factor 1
Zinc finger protein 794
Zinc finger protein SALL1
Zinc finger protein Spalt-1
Short name=HSal1
Short name=Sal-1

Gene names

Name:	SALL1
Synonyms:	SAL1, ZNF794

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1324 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcriptional repressor involved in organogenesis By similarity.
Subunit structure	Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 By similarity. Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC). Ref.7
Subcellular location	Nucleus By similarity.
Tissue specificity	Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.
Developmental stage	In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.
Involvement in disease	Townes-Brocks syndrome (TBS) [MIM:107480]: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Note: The disease is caused by mutations affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack the characteristic anal or hand malformations of TBS. Ref.1 Ref.3 Ref.6 Ref.8
Sequence similarities	Belongs to the sal C2H2-type zinc-finger protein family. Contains 9 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	adrenal gland development Inferred from expression pattern PubMed 12065233. Source: UniProtKB branching involved in ureteric bud morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB embryonic digestive tract development Inferred from mutant phenotype PubMed 18280297. Source: UniProtKB embryonic digit morphogenesis Inferred from mutant phenotype PubMed 18280297Ref.6. Source: UniProtKB forelimb morphogenesis Inferred from electronic annotation. Source: Compara gonad development Inferred from expression pattern PubMed 11511981. Source: UniProtKB hindlimb morphogenesis Inferred from electronic annotation. Source: Compara histone deacetylation Inferred from sequence or structural similarity. Source: GOC inductive cell-cell signaling Inferred from sequence or structural similarity. Source: UniProtKB mesenchymal to epithelial transition involved in metanephros morphogenesis Inferred from expression pattern PubMed 11511981. Source: UniProtKB negative regulation of smoothened signaling pathway Inferred from electronic annotation. Source: Compara negative regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 16443351. Source: UniProtKB neural tube closure Inferred from electronic annotation. Source: Compara olfactory bulb interneuron differentiation Inferred from sequence or structural similarity. Source: UniProtKB olfactory bulb mitral cell layer development Inferred from mutant phenotype PubMed 18024993. Source: UniProtKB olfactory nerve development Inferred from sequence or structural similarity. Source: UniProtKB outer ear morphogenesis Inferred from mutant phenotype Ref.6. Source: UniProtKB pituitary gland development Inferred from expression pattern PubMed 12065233. Source: UniProtKB positive regulation of Wnt receptor signaling pathway Inferred from direct assay PubMed 15158448. Source: UniProtKB positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 15158448. Source: UniProtKB regulation of neural precursor cell proliferation Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW ureteric bud invasion Inferred from sequence or structural similarity. Source: UniProtKB ventricular septum development Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	NuRD complex Inferred from electronic annotation. Source: Compara chromocenter Inferred from direct assay PubMed 16443351. Source: UniProtKB cytoplasm Inferred from direct assay PubMed 12065233. Source: UniProtKB heterochromatin Inferred from direct assay PubMed 15158448. Source: UniProtKB nucleus Inferred from direct assay PubMed 12065233PubMed 16443351. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement Ref.6. Source: UniProtKB beta-catenin binding Inferred from direct assay PubMed 15158448. Source: UniProtKB chromatin binding Inferred from electronic annotation. Source: Compara sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.6. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NSC2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NSC2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1324	1324	Sal-like protein 1		PRO_0000047020
Regions
	Zinc finger	449 – 471	23	C2H2-type 1
	Zinc finger	477 – 499	23	C2H2-type 2
	Zinc finger	706 – 728	23	C2H2-type 3
	Zinc finger	734 – 756	23	C2H2-type 4
	Zinc finger	766 – 788	23	C2H2-type 5
	Zinc finger	1001 – 1023	23	C2H2-type 6
	Zinc finger	1029 – 1051	23	C2H2-type 7
	Zinc finger	1134 – 1156	23	C2H2-type 8
	Zinc finger	1162 – 1184	23	C2H2-type 9
	Compositional bias	150 – 159	10	Poly-Ser
	Compositional bias	160 – 163	4	Poly-Gly
	Compositional bias	237 – 240	4	Poly-Gln
	Compositional bias	294 – 297	4	Poly-Ala
	Compositional bias	371 – 375	5	Poly-Ser
	Compositional bias	1144 – 1147	4	Poly-Ser
Amino acid modifications
	Modified residue	586	1	Phosphoserine By similarity
	Modified residue	593	1	Phosphoserine Ref.9
	Modified residue	595	1	Phosphoserine Ref.9
	Modified residue	941	1	Phosphoserine Ref.9
	Modified residue	943	1	Phosphoserine Ref.9
Natural variations
	Alternative sequence	1 – 97	97	Missing in isoform 2.		VSP_040502
	Natural variant	150	1	S → SS. Ref.1		VAR_013156
	Natural variant	150	1	Missing. Ref.1		VAR_013155
	Natural variant	159	1	S → G. Ref.1 Corresponds to variant rs13336129 [ dbSNP | Ensembl ].		VAR_013157
	Natural variant	164	1	Missing. Ref.3		VAR_013158
	Natural variant	1265	1	G → E. Ref.3		VAR_013159
Experimental info
	Sequence conflict	79	1	A → G in CAB41400. Ref.1
	Sequence conflict	562	1	T → S in CAB41400. Ref.1
	Sequence conflict	562	1	T → S in CAB41399. Ref.1
	Sequence conflict	1275	1	V → I in CAB41400. Ref.1
	Sequence conflict	1275	1	V → I in CAB41399. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 41AFA91ADEBEEF8C	FASTA	1,324	140,405
	10 20 30 40 50 60 MSRRKQAKPQ HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA EFFELSDLLL 70 80 90 100 110 120 HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND TVNKTDQVDC SDLSEHNGLD 130 140 150 160 170 180 REESMEVEAP VANKSGSGTS SGSHSSTAPS SSSSSSSSSG GGGSSSTGTS AITTSLPQLG 190 200 210 220 230 240 DLTTLGNFSV INSNVIIENL QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ 250 260 270 280 290 300 IHQLQLIEQI RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA 310 320 330 340 350 360 QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT PSSEKVASSA 370 380 390 400 410 420 GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS VFPSPLPNIG TTAEDLNSLS 430 440 450 460 470 480 ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK CRFCAKVFGS DSALQIHLRS HTGERPFKCN 490 500 510 520 530 540 ICGNRFSTKG NLKVHFQRHK EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS 550 560 570 580 590 600 WLDTKPVLPT LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES 610 620 630 640 650 660 ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG PAGSATTFTN 670 680 690 700 710 720 PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK KATDPNECII CHRVLSCQSA 730 740 750 760 770 780 LKMHYRTHTG ERPFKCKICG RAFTTKGNLK THYSVHRAMP PLRVQHSCPI CQKKFTNAVV 790 800 810 820 830 840 LQQHIRMHMG GQIPNTPVPD SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT 850 860 870 880 890 900 PKSADASQDS LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN 910 920 930 940 950 960 DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR AVPSEFANGL 970 980 990 1000 1010 1020 SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN TACDICGKTF ACQSALDIHY 1030 1040 1050 1060 1070 1080 RSHTKERPFI CTVCNRGFST KGNLKQHMLT HQMRDLPSQL FEPSSNLGPN QNSAVIPANS 1090 1100 1110 1120 1130 1140 LSSLIKTEVN GFVHVSPQDS KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG 1150 1160 1170 1180 1190 1200 KTFSSSSALQ IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD 1210 1220 1230 1240 1250 1260 GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN EISVIQNGGI 1270 1280 1290 1300 1310 1320 PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM ASSENGTNFR FTRFVEDSKE IVTS
	Isoform 2 [UniParc]. Checksum: F972D86743DED721	FASTA	1,227	129,571
	10 20 30 40 50 60 MNDTVNKTDQ VDCSDLSEHN GLDREESMEV EAPVANKSGS GTSSGSHSST APSSSSSSSS 70 80 90 100 110 120 SSGGGGSSST GTSAITTSLP QLGDLTTLGN FSVINSNVII ENLQSTKVAV AQFSQEARCG 130 140 150 160 170 180 GASGGKLAVP ALMEQLLALQ QQQIHQLQLI EQIRHQILLL ASQNADLPTS SSPSQGTLRT 190 200 210 220 230 240 SANPLSTLSS HLSQQLAAAA GLAQSLASQS ASISGVKQLP PIQLPQSSSG NTIIPSNSGS 250 260 270 280 290 300 SPNMNILAAA VTTPSSEKVA SSAGASHVSN PAVSSSSSPA FAISSLLSPA SNPLLPQQAS 310 320 330 340 350 360 ANSVFPSPLP NIGTTAEDLN SLSALAQQRK SKPPNVTAFE AKSTSDEAFF KHKCRFCAKV 370 380 390 400 410 420 FGSDSALQIH LRSHTGERPF KCNICGNRFS TKGNLKVHFQ RHKEKYPHIQ MNPYPVPEHL 430 440 450 460 470 480 DNIPTSTGIP YGMSIPPEKP VTSWLDTKPV LPTLTTSVGL PLPPTLPSLI PFIKTEEPAP 490 500 510 520 530 540 IPISHSATSP PGSVKSDSGG PESATRNLGG LPEEAEGSTL PPSGGKSEES GMVTNSVPTA 550 560 570 580 590 600 SSSVLSSPAA DCGPAGSATT FTNPLLPLMS EQFKAKFPFG GLLDSAQASE TSKLQQLVEN 610 620 630 640 650 660 IDKKATDPNE CIICHRVLSC QSALKMHYRT HTGERPFKCK ICGRAFTTKG NLKTHYSVHR 670 680 690 700 710 720 AMPPLRVQHS CPICQKKFTN AVVLQQHIRM HMGGQIPNTP VPDSYSESME SDTGSFDEKN 730 740 750 760 770 780 FDDLDNFSDE NMEDCPEGSI PDTPKSADAS QDSLSSSPLP LEMSSIAALE NQMKMINAGL 790 800 810 820 830 840 AEQLQASLKS VENGSIEGDV LTNDSSSVGG DMESQSAGSP AISESTSSMQ ALSPSNSTQE 850 860 870 880 890 900 FHKSPSIEEK PQRAVPSEFA NGLSPTPVNG GALDLTSSHA EKIIKEDSLG ILFPFRDRGK 910 920 930 940 950 960 FKNTACDICG KTFACQSALD IHYRSHTKER PFICTVCNRG FSTKGNLKQH MLTHQMRDLP 970 980 990 1000 1010 1020 SQLFEPSSNL GPNQNSAVIP ANSLSSLIKT EVNGFVHVSP QDSKDTPTSH VPSGPLSSSA 1030 1040 1050 1060 1070 1080 TSPVLLPALP RRTPKQHYCN TCGKTFSSSS ALQIHERTHT GEKPFACTIC GRAFTTKGNL 1090 1100 1110 1120 1130 1140 KVHMGTHMWN STPARRGRRL SVDGPMTFLG GNPVKFPEMF QKDLAARSGS GDPSSFWNQY 1150 1160 1170 1180 1190 1200 AAALSNGLAM KANEISVIQN GGIPPIPGSL GSGNSSPVSG LTGNLERLQN SEPNAPLAGL 1210 1220 EKMASSENGT NFRFTRFVED SKEIVTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular analysis of SALL1 mutations in Townes-Brocks syndrome." 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. , Wesby-van Swaay E., Trembath R.C., Schinzel A.A., Reardon W., Seemanova E., Engel W. Am. J. Hum. Genet. 64:435-445(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), DISEASE, VARIANTS SER-150 DEL; SER-150 INS AND GLY-159.
[2]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient." Marlin S., Blanchard S., Lacombe D., Denoyelle F., Alessandri J.-L., Calzolari E., Drouin-Garraud V., Ferraz F.G., Fourmaintraux A., Philip N., Toublanc J.E., Petit C. Hum. Mutat. 14:377-386(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-26 (ISOFORM 1), DISEASE, VARIANTS SER-164 DEL AND GLU-1265.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1058 (ISOFORM 2).
[5]	"Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt." 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. Genomics 38:291-298(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-1324 (ISOFORM 1).
[6]	"Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome." Kohlhase J., Wischermann A., Reichenbach H., Froster U., Engel W. Nat. Genet. 18:81-83(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 313-345 (ISOFORM 1), DISEASE.
[7]	"Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations." Unger S., Boehm D., Kaiser F.J., Kaulfuss S., Borozdin W., Buiting K., Burfeind P., Boehm J., Barrionuevo F., Craig A., Borowski K., Keppler-Noreuil K., Schmitt-Mechelke T., Steiner B., Bartholdi D., Lemke J., Mortier G., Sandford R. , Zabel B., Superti-Furga A., Kohlhase J. Nat. Genet. 40:287-289(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH FAM58A.
[8]	"A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype." Engels S., Kohlhase J., McGaughran J. J. Med. Genet. 37:458-460(2000) [PubMed] [Europe PMC] [Abstract] Cited for: DISEASE.
[9]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-593; SER-595; SER-941 AND SER-943, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y18265 mRNA. Translation: CAB41400.1. Y18264, X98833 Genomic DNA. Translation: CAB41399.1. AC009166 Genomic DNA. No translation available. AK307835 mRNA. No translation available. AF017655 Genomic DNA. Translation: AAB99908.1. AF074949 Genomic DNA. Translation: AAF19263.1.
IPI	IPI00004167. IPI00895947.
RefSeq	NP_001121364.1. NM_001127892.1. NP_002959.2. NM_002968.2.
UniGene	Hs.135787.
3D structure databases
ProteinModelPortal	Q9NSC2.
SMR	Q9NSC2. Positions 388-502, 685-790, 999-1184.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000251020.
PTM databases
PhosphoSite	Q9NSC2.
Polymorphism databases
DMDM	296452895.
Proteomic databases
PaxDb	Q9NSC2.
PRIDE	Q9NSC2.
Protocols and materials databases
DNASU	6299.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251020; ENSP00000251020; ENSG00000103449. ENST00000440970; ENSP00000407914; ENSG00000103449.
GeneID	6299.
KEGG	hsa:6299.
UCSC	uc021tid.1. human.
Organism-specific databases
CTD	6299.
GeneCards	GC16M051217.
HGNC	HGNC:10524. SALL1.
HPA	HPA049829.
MIM	107480. phenotype. 602218. gene.
neXtProt	NX_Q9NSC2.
Orphanet	857. Townes-Brocks syndrome.
PharmGKB	PA34932.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG293478.
HOGENOM	HOG000231986.
HOVERGEN	HBG058921.
InParanoid	Q9NSC2.
OMA	GRCCAEF.
OrthoDB	EOG4XSKP3.
PhylomeDB	Q9NSC2.
Gene expression databases
ArrayExpress	Q9NSC2.
Bgee	Q9NSC2.
CleanEx	HS_SALL1.
Genevestigator	Q9NSC2.
GermOnline	ENSG00000103449. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 9 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
SMART	SM00355. ZnF_C2H2. 9 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 9 hits. PS50157. ZINC_FINGER_C2H2_2. 9 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6299.
NextBio	24455.
SOURCE	Search...

Entry information

Entry name

SALL1_HUMAN

Accession

Primary (citable) accession number: Q9NSC2
Secondary accession number(s): Q99881, Q9NSC3, Q9P1R0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.