Q9BXA9 (SALL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 95.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Sal-like protein 3 Alternative name(s): Zinc finger protein 796 Zinc finger protein SALL3 Short name=hSALL3 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1300 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript 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. |
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 |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependentInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1300 | 1300 | Sal-like protein 3 | PRO_0000047024 | |||||
Regions | |||||||||
| Zinc finger | 420 – 442 | 23 | C2H2-type 1 | ||||||
| Zinc finger | 448 – 470 | 23 | C2H2-type 2 | ||||||
| Zinc finger | 679 – 701 | 23 | C2H2-type 3 | ||||||
| Zinc finger | 707 – 729 | 23 | C2H2-type 4 | ||||||
| Zinc finger | 739 – 761 | 23 | C2H2-type 5 | ||||||
| Zinc finger | 977 – 999 | 23 | C2H2-type 6 | ||||||
| Zinc finger | 1005 – 1027 | 23 | C2H2-type 7 | ||||||
| Zinc finger | 1113 – 1135 | 23 | C2H2-type 8 | ||||||
| Zinc finger | 1141 – 1163 | 23 | C2H2-type 9 | ||||||
| Compositional bias | 198 – 201 | 4 | Poly-Ala | ||||||
| Compositional bias | 213 – 216 | 4 | Poly-Gln | ||||||
| Compositional bias | 897 – 902 | 6 | Poly-Ser | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 133 | 133 | Missing in isoform 2 and isoform 4. | VSP_006832 | |||||
| Alternative sequence | 973 – 1044 | 72 | Missing in isoform 1 and isoform 2. | VSP_006833 | |||||
| Natural variant | 143 | 1 | R → H in a colorectal cancer sample; somatic mutation. Ref.5 | VAR_035552 | |||||
| Natural variant | 533 | 1 | T → A. Corresponds to variant rs7240860 [ dbSNP | Ensembl ]. | VAR_059887 | |||||
| Natural variant | 593 | 1 | L → V. Ref.1 Corresponds to variant rs2447437 [ dbSNP | Ensembl ]. | VAR_014132 | |||||
Experimental info | |||||||||
| Sequence conflict | 91 | 1 | P → H in AAK18311. Ref.1 | ||||||
| Sequence conflict | 91 | 1 | P → H in CAB65124. Ref.2 | ||||||
| Sequence conflict | 235 | 1 | R → C in CAB65124. Ref.2 | ||||||
| Sequence conflict | 787 | 1 | D → N in CAB65124. Ref.2 | ||||||
| Sequence conflict | 797 – 802 | 6 | DDDMDE → NDNLDK in CAB65124. Ref.2 | ||||||
| Sequence conflict | 808 | 1 | D → N in CAB65124. Ref.2 | ||||||
| Sequence conflict | 1138 | 1 | E → K in CAB65124. Ref.2 | ||||||
| Sequence conflict | 1141 | 1 | F → S in CAB65124. Ref.2 | ||||||
Sequences
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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. |
| IPI | IPI00074943. IPI00218121. IPI00218122. IPI00218124. |
| RefSeq | NP_741996.2. NM_171999.3. |
| UniGene | Hs.700557. |
3D structure databases | |
| ProteinModelPortal | Q9BXA9. |
| SMR | Q9BXA9. Positions 419-501, 649-790, 943-1171. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9BXA9. |
PTM databases | |
| PhosphoSite | Q9BXA9. |
Polymorphism databases | |
| DMDM | 296452896. |
Proteomic databases | |
| PRIDE | Q9BXA9. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000299466; ENSP00000299466; ENSG00000151514. |
| GeneID | 27164. |
| KEGG | hsa:27164. |
| UCSC | uc002lmt.1. human. |
Organism-specific databases | |
| CTD | 27164. |
| GeneCards | GC18P076766. |
| H-InvDB | HIX0039753. |
| HGNC | HGNC:10527. SALL3. |
| HPA | HPA016656. |
| MIM | 605079. gene. |
| neXtProt | NX_Q9BXA9. |
| PharmGKB | PA34935. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG17143. |
| GeneTree | ENSGT00550000074555. |
| HOGENOM | HBG716076. |
| HOVERGEN | HBG058921. |
| InParanoid | Q9BXA9. |
| OMA | MEVNGHS. |
| OrthoDB | EOG483D5P. |
| PhylomeDB | Q9BXA9. |
Gene expression databases | |
| ArrayExpress | Q9BXA9. |
| Bgee | Q9BXA9. |
| CleanEx | HS_SALL3. |
| Genevestigator | Q9BXA9. |
| GermOnline | ENSG00000151514. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view] |
| Gene3D | G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 9 hits. |
| Pfam | PF00096. zf-C2H2. 5 hits. [Graphical view] |
| SMART | SM00355. ZnF_C2H2. 10 hits. [Graphical view] |
| PROSITE | PS00028. ZINC_FINGER_C2H2_1. 9 hits. PS50157. ZINC_FINGER_C2H2_2. 8 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| SOURCE | Search... |
Entry information
| Entry name | SALL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BXA9 Secondary accession number(s): Q9UGH1 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 18 Human chromosome 18: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with