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Q9BXA9 (SALL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sal-like protein 3
Alternative name(s):
Zinc finger protein 796
Zinc finger protein SALL3
Short name=hSALL3
Gene names
Name:SALL3
Synonyms:ZNF796
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1300 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable transcription factor.

Subcellular location

Nucleus Probable.

Tissue specificity

Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).

Developmental stage

In fetal brain of the 24th gestational week.

Sequence similarities

Belongs to the sal C2H2-type zinc-finger protein family.

Contains 9 C2H2-type zinc fingers.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 3 (identifier: Q9BXA9-1)

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 1 (identifier: Q9BXA9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     973-1044: Missing.
Note: Lacks two zinc finger domains. Major isoform with isoform 2.
Isoform 2 (identifier: Q9BXA9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.
     973-1044: Missing.
Note: Lacks two zinc finger domains. Major isoform with isoform 1.
Isoform 4 (identifier: Q9BXA9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13001300Sal-like protein 3
PRO_0000047024

Regions

Zinc finger420 – 44223C2H2-type 1
Zinc finger448 – 47023C2H2-type 2
Zinc finger679 – 70123C2H2-type 3
Zinc finger707 – 72923C2H2-type 4
Zinc finger739 – 76123C2H2-type 5
Zinc finger977 – 99923C2H2-type 6
Zinc finger1005 – 102723C2H2-type 7
Zinc finger1113 – 113523C2H2-type 8
Zinc finger1141 – 116323C2H2-type 9
Compositional bias198 – 2014Poly-Ala
Compositional bias213 – 2164Poly-Gln
Compositional bias897 – 9026Poly-Ser

Amino acid modifications

Modified residue1091Phosphoserine Ref.5
Modified residue9191Phosphoserine Ref.5
Modified residue11771Phosphoserine Ref.5

Natural variations

Alternative sequence1 – 133133Missing in isoform 2 and isoform 4.
VSP_006832
Alternative sequence973 – 104472Missing in isoform 1 and isoform 2.
VSP_006833
Natural variant1431R → H in a colorectal cancer sample; somatic mutation. Ref.6
VAR_035552
Natural variant5331T → A.
Corresponds to variant rs7240860 [ dbSNP | Ensembl ].
VAR_059887
Natural variant5931L → V. Ref.1
Corresponds to variant rs2447437 [ dbSNP | Ensembl ].
VAR_014132

Experimental info

Sequence conflict911P → H in AAK18311. Ref.1
Sequence conflict911P → H in CAB65124. Ref.2
Sequence conflict2351R → C in CAB65124. Ref.2
Sequence conflict7871D → N in CAB65124. Ref.2
Sequence conflict797 – 8026DDDMDE → NDNLDK in CAB65124. Ref.2
Sequence conflict8081D → N in CAB65124. Ref.2
Sequence conflict11381E → K in CAB65124. Ref.2
Sequence conflict11411F → S in CAB65124. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 3 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 9D0347FE2C9A6967

FASTA1,300135,346
        10         20         30         40         50         60 
MSRRKQAKPQ HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET SVCEKCCAEF 

        70         80         90        100        110        120 
FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA SSPSERAESE AAEEAGAEGA 

       130        140        150        160        170        180 
EGEARPVEKE AEPMDAEPAG DTRAPRPPPA APAPPTPAYG APSTNVTLEA LLSTKVAVAQ 

       190        200        210        220        230        240 
FSQGARAAGG SGAGGGVAAA AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP 

       250        260        270        280        290        300 
SLSPAAAPSA PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS 

       310        320        330        340        350        360 
TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS LLGAAPGLPS 

       370        380        390        400        410        420 
PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK PPNVSVFEPK ASAEDPFFKH 

       430        440        450        460        470        480 
KCRFCAKVFG SDSALQIHLR SHTGERPFKC NICGNRFSTK GNLKVHFQRH KEKYPHIQMN 

       490        500        510        520        530        540 
PYPVPEYLDN VPTCSGIPYG MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY 

       550        560        570        580        590        600 
ADSPSATPAS RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS 

       610        620        630        640        650        660 
LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG GLLDSMQTSE 

       670        680        690        700        710        720 
TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT HTGERPFKCK ICGRAFTTKG 

       730        740        750        760        770        780 
NLKTHFGVHR AKPPLRVQHS CPICQKKFTN AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD 

       790        800        810        820        830        840 
SELAYDDKNA ETLSSYDDDM DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI 

       850        860        870        880        890        900 
AALENQMKMI DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS 

       910        920        930        940        950        960 
SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA PGRAGIKEEA 

       970        980        990       1000       1010       1020 
PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT KERPFVCALC RRGCSTMGNL 

      1030       1040       1050       1060       1070       1080 
KQHLLTHRLK ELPSQLFDPN FALGPSQSTP SLISSAAPTM IKMEVNGHGK AMALGEGPPL 

      1090       1100       1110       1120       1130       1140 
PAGVQVPAGP QTVMGPGLAP MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP 

      1150       1160       1170       1180       1190       1200 
FGCTICGRAF TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL 

      1210       1220       1230       1240       1250       1260 
AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL PPLGSMASGM 

      1270       1280       1290       1300 
DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN 

« Hide

Isoform 1 [UniParc].

Checksum: 0ED24F438F720F28
Show »

FASTA1,228127,332
Isoform 2 [UniParc].

Checksum: 226DEA7691D918FE
Show »

FASTA1,095113,164
Isoform 4 [UniParc].

Checksum: 583C3C859AFDC4AB
Show »

FASTA1,167121,179

References

« Hide 'large scale' references
[1]"Exclusion of HSALL3 and refinement of the region for the CCFDN gene."
Gooding R., Angelicheva D., Blechschmidt K., Swoboda K., Molnar M., Tournev I., Kalaydjieva L.
Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), VARIANT VAL-593.
[2]"SALL3, a new member of the human spalt-like gene family, maps to 18q23."
Kohlhase J., Hausmann S., Stojmenovic G., Dixkens C., Bink K., Schulz-Schaeffer W., Altmann M., Engel W.
Genomics 62:216-222(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-1300, ALTERNATIVE SPLICING.
[3]Kohlhase J.
Submitted (JUL-2002) to UniProtKB
Cited for: SEQUENCE REVISION TO 787; 797-802; 808; 1138 AND 1141.
[4]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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-109; SER-919 AND SER-1177, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-143.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF347021 Genomic DNA. Translation: AAK18311.1.
AJ007421 Genomic DNA. Translation: CAB65124.1.
AC099689 Genomic DNA. No translation available.
CCDSCCDS12013.1. [Q9BXA9-1]
RefSeqNP_741996.2. NM_171999.3. [Q9BXA9-1]
UniGeneHs.700557.

3D structure databases

ProteinModelPortalQ9BXA9.
SMRQ9BXA9. Positions 421-475, 658-789, 976-1166.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118043. 4 interactions.
STRING9606.ENSP00000299466.

PTM databases

PhosphoSiteQ9BXA9.

Polymorphism databases

DMDM296452896.

Proteomic databases

MaxQBQ9BXA9.
PaxDbQ9BXA9.
PRIDEQ9BXA9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000536229; ENSP00000439975; ENSG00000256463. [Q9BXA9-3]
ENST00000537592; ENSP00000441823; ENSG00000256463. [Q9BXA9-1]
ENST00000575389; ENSP00000458360; ENSG00000256463. [Q9BXA9-2]
GeneID27164.
KEGGhsa:27164.
UCSCuc002lmt.3. human. [Q9BXA9-1]
uc010dra.3. human. [Q9BXA9-3]

Organism-specific databases

CTD27164.
GeneCardsGC18P076766.
HGNCHGNC:10527. SALL3.
HPAHPA016656.
MIM605079. gene.
neXtProtNX_Q9BXA9.
PharmGKBPA34935.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293478.
HOGENOMHOG000231986.
HOVERGENHBG058921.
InParanoidQ9BXA9.
OMAMEVNGHS.
OrthoDBEOG7NCV2P.
PhylomeDBQ9BXA9.
TreeFamTF317003.

Gene expression databases

BgeeQ9BXA9.
CleanExHS_SALL3.
GenevestigatorQ9BXA9.

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. 10 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSALL3.
GenomeRNAi27164.
NextBio49956.
PROQ9BXA9.
SOURCESearch...

Entry information

Entry nameSALL3_HUMAN
AccessionPrimary (citable) accession number: Q9BXA9
Secondary accession number(s): Q9UGH1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 120 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 18

Human chromosome 18: entries, gene names and cross-references to MIM