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Entry version 171 (31 Jul 2019)
Sequence version 1 (01 May 2000)
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Protein

Sal-like protein 4

Gene

SALL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri382 – 404C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri566 – 588C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri594 – 616C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri626 – 648C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri870 – 892C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri898 – 920C2H2-type 7PROSITE-ProRule annotationAdd BLAST23

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
R-HSA-8943724 Regulation of PTEN gene transcription

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UJQ4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sal-like protein 4
Alternative name(s):
Zinc finger protein 797
Zinc finger protein SALL4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SALL4
Synonyms:ZNF797
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15924 SALL4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607343 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UJQ4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Duane-radial ray syndrome (DRRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDisorder characterized by the association of forearm malformations with Duane retraction syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_033054888H → R in DRRS. 1 PublicationCorresponds to variant dbSNP:rs74315429EnsemblClinVar.1
Oculootoradial syndrome (OORS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Oncogene

Organism-specific databases

DisGeNET

More...
DisGeNETi
57167

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
SALL4

MalaCards human disease database

More...
MalaCardsi
SALL4
MIMi147750 phenotype
607323 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101115

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
959 Acro-renal-ocular syndrome
2307 IVIC syndrome
261638 Okihiro syndrome due to 20q13 microdeletion
261647 Okihiro syndrome due to a point mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34936

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SALL4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
24212387

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000470261 – 1053Sal-like protein 4Add BLAST1053

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei57Phosphoserine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross-linki156Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki175Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki290Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei307PhosphoserineCombined sources1
Cross-linki316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross-linki316Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross-linki374Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki436Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei541PhosphothreonineCombined sources1
Cross-linki550Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki597Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki623Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei776PhosphoserineCombined sources1
Modified residuei789PhosphoserineCombined sources1
Cross-linki838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross-linki838Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei852Phosphoserine1 Publication1
Cross-linki896Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki932Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki947Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1019PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Isoform SALL4B exists primarily as a ubiquitinated form.1 Publication
Sumoylation with both SUMO1 and SUMO2 regulates the stability, subcellular localization, transcriptional activity, and may reduce interaction with POU5F1/OCT4.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UJQ4

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UJQ4

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UJQ4

PeptideAtlas

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PeptideAtlasi
Q9UJQ4

PRoteomics IDEntifications database

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PRIDEi
Q9UJQ4

ProteomicsDB human proteome resource

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ProteomicsDBi
190
84639 [Q9UJQ4-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UJQ4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9UJQ4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101115 Expressed in 80 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UJQ4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UJQ4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA015291
HPA015791

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with NANOG (By similarity).

Interacts with POU5F1/OCT4.

Interacts with BEND3.

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121420, 7 interactors

Protein interaction database and analysis system

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IntActi
Q9UJQ4, 2 interactors

Molecular INTeraction database

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MINTi
Q9UJQ4

STRING: functional protein association networks

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STRINGi
9606.ENSP00000217086

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11053
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UJQ4

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri382 – 404C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri410 – 432C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri566 – 588C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri594 – 616C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri626 – 648C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri870 – 892C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri898 – 920C2H2-type 7PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1074 Eukaryota
ENOG410ZE3Z LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155384

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230873

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UJQ4

KEGG Orthology (KO)

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KOi
K19871

Identification of Orthologs from Complete Genome Data

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OMAi
AEFQDKM

Database of Orthologous Groups

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OrthoDBi
244207at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UJQ4

TreeFam database of animal gene trees

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TreeFami
TF317003

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

Pfam protein domain database

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Pfami
View protein in Pfam
PF00096 zf-C2H2, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 8 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 4 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform SALL4A (identifier: Q9UJQ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSRRKQAKPQ HINSEEDQGE QQPQQQTPEF ADAAPAAPAA GELGAPVNHP
60 70 80 90 100
GNDEVASEDE ATVKRLRREE THVCEKCCAE FFSISEFLEH KKNCTKNPPV
110 120 130 140 150
LIMNDSEGPV PSEDFSGAVL SHQPTSPGSK DCHRENGGSS EDMKEKPDAE
160 170 180 190 200
SVVYLKTETA LPPTPQDISY LAKGKVANTN VTLQALRGTK VAVNQRSADA
210 220 230 240 250
LPAPVPGANS IPWVLEQILC LQQQQLQQIQ LTEQIRIQVN MWASHALHSS
260 270 280 290 300
GAGADTLKTL GSHMSQQVSA AVALLSQKAG SQGLSLDALK QAKLPHANIP
310 320 330 340 350
SATSSLSPGL APFTLKPDGT RVLPNVMSRL PSALLPQAPG SVLFQSPFST
360 370 380 390 400
VALDTSKKGK GKPPNISAVD VKPKDEAALY KHKCKYCSKV FGTDSSLQIH
410 420 430 440 450
LRSHTGERPF VCSVCGHRFT TKGNLKVHFH RHPQVKANPQ LFAEFQDKVA
460 470 480 490 500
AGNGIPYALS VPDPIDEPSL SLDSKPVLVT TSVGLPQNLS SGTNPKDLTG
510 520 530 540 550
GSLPGDLQPG PSPESEGGPT LPGVGPNYNS PRAGGFQGSG TPEPGSETLK
560 570 580 590 600
LQQLVENIDK ATTDPNECLI CHRVLSCQSS LKMHYRTHTG ERPFQCKICG
610 620 630 640 650
RAFSTKGNLK THLGVHRTNT SIKTQHSCPI CQKKFTNAVM LQQHIRMHMG
660 670 680 690 700
GQIPNTPLPE NPCDFTGSEP MTVGENGSTG AICHDDVIES IDVEEVSSQE
710 720 730 740 750
APSSSSKVPT PLPSIHSASP TLGFAMMASL DAPGKVGPAP FNLQRQGSRE
760 770 780 790 800
NGSVESDGLT NDSSSLMGDQ EYQSRSPDIL ETTSFQALSP ANSQAESIKS
810 820 830 840 850
KSPDAGSKAE SSENSRTEME GRSSLPSTFI RAPPTYVKVE VPGTFVGPST
860 870 880 890 900
LSPGMTPLLA AQPRRQAKQH GCTRCGKNFS SASALQIHER THTGEKPFVC
910 920 930 940 950
NICGRAFTTK GNLKVHYMTH GANNNSARRG RKLAIENTMA LLGTDGKRVS
960 970 980 990 1000
EIFPKEILAP SVNVDPVVWN QYTSMLNGGL AVKTNEISVI QSGGVPTLPV
1010 1020 1030 1040 1050
SLGATSVVNN ATVSKMDGSQ SGISADVEKP SATDGVPKHQ FPHFLEENKI

AVS
Length:1,053
Mass (Da):112,231
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i61D0D1F21CB2B337
GO
Isoform SALL4B (identifier: Q9UJQ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     385-821: Missing.

Show »
Length:616
Mass (Da):65,708
Checksum:i29A9D34BAFD73C9D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q6Y8G5Q6Y8G5_HUMAN
SALL4C
SALL4
276Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti130K → E in AAO16566 (PubMed:16763212).Curated1
Sequence conflicti143M → I in AAO16566 (PubMed:16763212).Curated1
Sequence conflicti865R → G in AAO16566 (PubMed:16763212).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016042507L → R1 PublicationCorresponds to variant dbSNP:rs6126344EnsemblClinVar.1
Natural variantiVAR_016043798I → L1 PublicationCorresponds to variant dbSNP:rs6091375EnsemblClinVar.1
Natural variantiVAR_033054888H → R in DRRS. 1 PublicationCorresponds to variant dbSNP:rs74315429EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046525385 – 821Missing in isoform SALL4B. 1 PublicationAdd BLAST437

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY172738 mRNA Translation: AAO44950.1
AY170621 mRNA Translation: AAO16566.1
AL034420 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75595.1
BC111714 mRNA Translation: AAI11715.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13438.1 [Q9UJQ4-1]
CCDS82629.1 [Q9UJQ4-2]

NCBI Reference Sequences

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RefSeqi
NP_001304960.1, NM_001318031.1 [Q9UJQ4-2]
NP_065169.1, NM_020436.4 [Q9UJQ4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000217086; ENSP00000217086; ENSG00000101115 [Q9UJQ4-1]
ENST00000395997; ENSP00000379319; ENSG00000101115 [Q9UJQ4-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57167

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57167

UCSC genome browser

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UCSCi
uc002xwh.5 human [Q9UJQ4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY172738 mRNA Translation: AAO44950.1
AY170621 mRNA Translation: AAO16566.1
AL034420 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75595.1
BC111714 mRNA Translation: AAI11715.1
CCDSiCCDS13438.1 [Q9UJQ4-1]
CCDS82629.1 [Q9UJQ4-2]
RefSeqiNP_001304960.1, NM_001318031.1 [Q9UJQ4-2]
NP_065169.1, NM_020436.4 [Q9UJQ4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XWRX-ray2.69C/D1-12[»]
SMRiQ9UJQ4
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121420, 7 interactors
IntActiQ9UJQ4, 2 interactors
MINTiQ9UJQ4
STRINGi9606.ENSP00000217086

PTM databases

iPTMnetiQ9UJQ4
PhosphoSitePlusiQ9UJQ4

Polymorphism and mutation databases

BioMutaiSALL4
DMDMi24212387

Proteomic databases

EPDiQ9UJQ4
jPOSTiQ9UJQ4
PaxDbiQ9UJQ4
PeptideAtlasiQ9UJQ4
PRIDEiQ9UJQ4
ProteomicsDBi190
84639 [Q9UJQ4-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

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ABCDi
Q9UJQ4
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000217086; ENSP00000217086; ENSG00000101115 [Q9UJQ4-1]
ENST00000395997; ENSP00000379319; ENSG00000101115 [Q9UJQ4-2]
GeneIDi57167
KEGGihsa:57167
UCSCiuc002xwh.5 human [Q9UJQ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57167
DisGeNETi57167

GeneCards: human genes, protein and diseases

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GeneCardsi
SALL4
GeneReviewsiSALL4
HGNCiHGNC:15924 SALL4
HPAiHPA015291
HPA015791
MalaCardsiSALL4
MIMi147750 phenotype
607323 phenotype
607343 gene
neXtProtiNX_Q9UJQ4
OpenTargetsiENSG00000101115
Orphaneti959 Acro-renal-ocular syndrome
2307 IVIC syndrome
261638 Okihiro syndrome due to 20q13 microdeletion
261647 Okihiro syndrome due to a point mutation
PharmGKBiPA34936

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1074 Eukaryota
ENOG410ZE3Z LUCA
GeneTreeiENSGT00940000155384
HOGENOMiHOG000230873
InParanoidiQ9UJQ4
KOiK19871
OMAiAEFQDKM
OrthoDBi244207at2759
PhylomeDBiQ9UJQ4
TreeFamiTF317003

Enzyme and pathway databases

ReactomeiR-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-452723 Transcriptional regulation of pluripotent stem cells
R-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiQ9UJQ4

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SALL4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SALL4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57167

Protein Ontology

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PROi
PR:Q9UJQ4

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101115 Expressed in 80 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ9UJQ4 baseline and differential
GenevisibleiQ9UJQ4 HS

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF00096 zf-C2H2, 6 hits
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 8 hits
SUPFAMiSSF57667 SSF57667, 4 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 7 hits
PS50157 ZINC_FINGER_C2H2_2, 7 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSALL4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UJQ4
Secondary accession number(s): A2A2D8, Q540H3, Q6Y8G6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: May 1, 2000
Last modified: July 31, 2019
This is version 171 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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