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Q9NSC2 (SALL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1324 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionRepressor
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadrenal 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: Ensembl

gonad development

Inferred from expression pattern PubMed 11511981. Source: UniProtKB

heart development

Inferred from mutant phenotype PubMed 11484202. Source: UniProtKB

hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

histone deacetylation

Inferred from sequence or structural similarity. Source: GOC

inductive cell-cell signaling

Inferred from sequence or structural similarity. Source: UniProtKB

kidney development

Inferred from mutant phenotype PubMed 16971658. Source: UniProtKB

kidney epithelium development

Inferred from sequence or structural similarity. Source: UniProtKB

limb development

Inferred from mutant phenotype PubMed 18470945. 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: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 16443351. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 16443351. Source: UniProtKB

neural tube closure

Inferred from electronic annotation. Source: Ensembl

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 signaling pathway

Inferred from direct assay PubMed 15158448. Source: UniProtKB

positive regulation of neuron differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 15158448. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 15158448. Source: UniProtKB

regulation of neural precursor cell proliferation

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

ureteric bud development

Inferred from sequence or structural similarity. Source: UniProtKB

ureteric bud invasion

Inferred from sequence or structural similarity. Source: UniProtKB

ventricular septum development

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentNuRD complex

Inferred from electronic annotation. Source: Ensembl

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_functionDNA 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: Ensembl

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

sequence-specific DNA binding transcription factor activity

Non-traceable author statement Ref.6. Source: UniProtKB

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13241324Sal-like protein 1
PRO_0000047020

Regions

Zinc finger449 – 47123C2H2-type 1
Zinc finger477 – 49923C2H2-type 2
Zinc finger706 – 72823C2H2-type 3
Zinc finger734 – 75623C2H2-type 4
Zinc finger766 – 78823C2H2-type 5
Zinc finger1001 – 102323C2H2-type 6
Zinc finger1029 – 105123C2H2-type 7
Zinc finger1134 – 115623C2H2-type 8
Zinc finger1162 – 118423C2H2-type 9
Compositional bias150 – 15910Poly-Ser
Compositional bias160 – 1634Poly-Gly
Compositional bias237 – 2404Poly-Gln
Compositional bias294 – 2974Poly-Ala
Compositional bias371 – 3755Poly-Ser
Compositional bias1144 – 11474Poly-Ser

Amino acid modifications

Modified residue5931Phosphoserine Ref.9
Modified residue5951Phosphoserine Ref.9
Modified residue9411Phosphoserine Ref.9
Modified residue9431Phosphoserine Ref.9

Natural variations

Alternative sequence1 – 9797Missing in isoform 2.
VSP_040502
Natural variant1501S → SS. Ref.1
VAR_013156
Natural variant1501Missing. Ref.1
VAR_013155
Natural variant1591S → G. Ref.1
Corresponds to variant rs13336129 [ dbSNP | Ensembl ].
VAR_013157
Natural variant1641Missing. Ref.3
VAR_013158
Natural variant12651G → E. Ref.3
Corresponds to variant rs149302006 [ dbSNP | Ensembl ].
VAR_013159

Experimental info

Sequence conflict791A → G in CAB41400. Ref.1
Sequence conflict5621T → S in CAB41400. Ref.1
Sequence conflict5621T → S in CAB41399. Ref.1
Sequence conflict12751V → I in CAB41400. Ref.1
Sequence conflict12751V → I in CAB41399. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 41AFA91ADEBEEF8C

FASTA1,324140,405
        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 

« Hide

Isoform 2 [UniParc].

Checksum: F972D86743DED721
Show »

FASTA1,227129,571

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

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.
RefSeqNP_001121364.1. NM_001127892.1.
NP_002959.2. NM_002968.2.
UniGeneHs.135787.

3D structure databases

ProteinModelPortalQ9NSC2.
SMRQ9NSC2. Positions 388-504, 681-788, 970-1194.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112206. 6 interactions.
STRING9606.ENSP00000251020.

PTM databases

PhosphoSiteQ9NSC2.

Polymorphism databases

DMDM296452895.

Proteomic databases

PaxDbQ9NSC2.
PRIDEQ9NSC2.

Protocols and materials databases

DNASU6299.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251020; ENSP00000251020; ENSG00000103449. [Q9NSC2-1]
ENST00000440970; ENSP00000407914; ENSG00000103449. [Q9NSC2-2]
GeneID6299.
KEGGhsa:6299.
UCSCuc021tid.1. human. [Q9NSC2-1]

Organism-specific databases

CTD6299.
GeneCardsGC16M051217.
HGNCHGNC:10524. SALL1.
HPAHPA049829.
MIM107480. phenotype.
602218. gene.
neXtProtNX_Q9NSC2.
Orphanet857. Townes-Brocks syndrome.
PharmGKBPA34932.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293478.
HOGENOMHOG000231986.
HOVERGENHBG058921.
InParanoidQ9NSC2.
OMACTKNQLV.
OrthoDBEOG7NCV2P.
PhylomeDBQ9NSC2.
TreeFamTF317003.

Gene expression databases

ArrayExpressQ9NSC2.
BgeeQ9NSC2.
CleanExHS_SALL1.
GenevestigatorQ9NSC2.

Family and domain databases

Gene3D3.30.160.60. 9 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 9 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 9 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSALL1.
GenomeRNAi6299.
NextBio24455.
PROQ9NSC2.
SOURCESearch...

Entry information

Entry nameSALL1_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM