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Entry version 173 (22 Apr 2020)
Sequence version 2 (18 May 2010)
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Protein

Sal-like protein 1

Gene

SALL1

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

Transcriptional repressor involved in organogenesis.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri449 – 471C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri477 – 499C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri706 – 728C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri734 – 756C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri766 – 788C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1001 – 1023C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1029 – 1051C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1134 – 1156C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1162 – 1184C2H2-type 9PROSITE-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, Repressor
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

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9NSC2

<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%5Fand%5Ftaxonomy%5Fsection">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 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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SALL1
Synonyms:SAL1, ZNF794
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:10524 SALL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602218 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NSC2

<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

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

Townes-Brocks syndrome 1 (TBS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 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 TBS1.1 Publication
Disease descriptionA form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease.
Related information in OMIM

Keywords - Diseasei

Deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
6299

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

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GeneReviewsi
SALL1

MalaCards human disease database

More...
MalaCardsi
SALL1
MIMi107480 phenotype

Open Targets

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OpenTargetsi
ENSG00000103449

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

More...
Orphaneti
857 Townes-Brocks syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34932

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9NSC2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SALL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296452895

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000470201 – 1324Sal-like protein 1Add BLAST1324

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki439Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei590PhosphoserineBy similarity1
Modified residuei593PhosphoserineCombined sources1
Modified residuei595PhosphoserineCombined sources1
Cross-linki673Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki690Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki701Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei941PhosphoserineCombined sources1
Modified residuei943PhosphoserineCombined sources1
Cross-linki947Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki982Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1086Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1219Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1299Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1319Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NSC2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NSC2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NSC2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NSC2

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

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PaxDbi
Q9NSC2

PeptideAtlas

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PeptideAtlasi
Q9NSC2

PRoteomics IDEntifications database

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PRIDEi
Q9NSC2

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82527 [Q9NSC2-1]
82528 [Q9NSC2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9NSC2

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

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PhosphoSitePlusi
Q9NSC2

<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

Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000103449 Expressed in metanephros and 143 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NSC2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NSC2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000103449 Tissue enhanced (brain, kidney, liver)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity).

Interacts with CCNQ. Probably associates with NuRD histone deacetylase complex (HDAC).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112206, 22 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9NSC2

Protein interaction database and analysis system

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IntActi
Q9NSC2, 13 interactors

Molecular INTeraction database

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MINTi
Q9NSC2

STRING: functional protein association networks

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STRINGi
9606.ENSP00000251020

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9NSC2 protein

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi150 – 159Poly-Ser10
Compositional biasi160 – 163Poly-Gly4
Compositional biasi237 – 240Poly-Gln4
Compositional biasi294 – 297Poly-Ala4
Compositional biasi371 – 375Poly-Ser5
Compositional biasi1144 – 1147Poly-Ser4

<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 fingeri449 – 471C2H2-type 1PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri477 – 499C2H2-type 2PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri706 – 728C2H2-type 3PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri734 – 756C2H2-type 4PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri766 – 788C2H2-type 5PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1001 – 1023C2H2-type 6PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1029 – 1051C2H2-type 7PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1134 – 1156C2H2-type 8PROSITE-ProRule annotationAdd BLAST23
Zinc fingeri1162 – 1184C2H2-type 9PROSITE-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
ENSGT00940000155938

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NSC2

KEGG Orthology (KO)

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KOi
K19871

Identification of Orthologs from Complete Genome Data

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OMAi
QADCSDL

Database of Orthologous Groups

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OrthoDBi
244207at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NSC2

TreeFam database of animal gene trees

More...
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

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

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00355 ZnF_C2H2, 9 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF57667 SSF57667, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 9 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NSC2-1) [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 HFQSDPEVAS LPRRDGDTEK GQPSRPTKSK DAHVCGRCCA
60 70 80 90 100
EFFELSDLLL HKKNCTKNQL VLIVNENPAS PPETFSPSPP PDNPDEQMND
110 120 130 140 150
TVNKTDQVDC SDLSEHNGLD REESMEVEAP VANKSGSGTS SGSHSSTAPS
160 170 180 190 200
SSSSSSSSSG GGGSSSTGTS AITTSLPQLG DLTTLGNFSV INSNVIIENL
210 220 230 240 250
QSTKVAVAQF SQEARCGGAS GGKLAVPALM EQLLALQQQQ IHQLQLIEQI
260 270 280 290 300
RHQILLLASQ NADLPTSSSP SQGTLRTSAN PLSTLSSHLS QQLAAAAGLA
310 320 330 340 350
QSLASQSASI SGVKQLPPIQ LPQSSSGNTI IPSNSGSSPN MNILAAAVTT
360 370 380 390 400
PSSEKVASSA GASHVSNPAV SSSSSPAFAI SSLLSPASNP LLPQQASANS
410 420 430 440 450
VFPSPLPNIG TTAEDLNSLS ALAQQRKSKP PNVTAFEAKS TSDEAFFKHK
460 470 480 490 500
CRFCAKVFGS DSALQIHLRS HTGERPFKCN ICGNRFSTKG NLKVHFQRHK
510 520 530 540 550
EKYPHIQMNP YPVPEHLDNI PTSTGIPYGM SIPPEKPVTS WLDTKPVLPT
560 570 580 590 600
LTTSVGLPLP PTLPSLIPFI KTEEPAPIPI SHSATSPPGS VKSDSGGPES
610 620 630 640 650
ATRNLGGLPE EAEGSTLPPS GGKSEESGMV TNSVPTASSS VLSSPAADCG
660 670 680 690 700
PAGSATTFTN PLLPLMSEQF KAKFPFGGLL DSAQASETSK LQQLVENIDK
710 720 730 740 750
KATDPNECII CHRVLSCQSA LKMHYRTHTG ERPFKCKICG RAFTTKGNLK
760 770 780 790 800
THYSVHRAMP PLRVQHSCPI CQKKFTNAVV LQQHIRMHMG GQIPNTPVPD
810 820 830 840 850
SYSESMESDT GSFDEKNFDD LDNFSDENME DCPEGSIPDT PKSADASQDS
860 870 880 890 900
LSSSPLPLEM SSIAALENQM KMINAGLAEQ LQASLKSVEN GSIEGDVLTN
910 920 930 940 950
DSSSVGGDME SQSAGSPAIS ESTSSMQALS PSNSTQEFHK SPSIEEKPQR
960 970 980 990 1000
AVPSEFANGL SPTPVNGGAL DLTSSHAEKI IKEDSLGILF PFRDRGKFKN
1010 1020 1030 1040 1050
TACDICGKTF ACQSALDIHY RSHTKERPFI CTVCNRGFST KGNLKQHMLT
1060 1070 1080 1090 1100
HQMRDLPSQL FEPSSNLGPN QNSAVIPANS LSSLIKTEVN GFVHVSPQDS
1110 1120 1130 1140 1150
KDTPTSHVPS GPLSSSATSP VLLPALPRRT PKQHYCNTCG KTFSSSSALQ
1160 1170 1180 1190 1200
IHERTHTGEK PFACTICGRA FTTKGNLKVH MGTHMWNSTP ARRGRRLSVD
1210 1220 1230 1240 1250
GPMTFLGGNP VKFPEMFQKD LAARSGSGDP SSFWNQYAAA LSNGLAMKAN
1260 1270 1280 1290 1300
EISVIQNGGI PPIPGSLGSG NSSPVSGLTG NLERLQNSEP NAPLAGLEKM
1310 1320
ASSENGTNFR FTRFVEDSKE IVTS
Length:1,324
Mass (Da):140,405
Last modified:May 18, 2010 - v2
<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:i41AFA91ADEBEEF8C
GO
Isoform 2 (identifier: Q9NSC2-2) [UniParc]FASTAAdd to basket

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

Show »
Length:1,227
Mass (Da):129,571
Checksum:iF972D86743DED721
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 are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BSM9H3BSM9_HUMAN
Sal-like protein 1
SALL1
1,154Annotation 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>
H3BQ32H3BQ32_HUMAN
Sal-like protein 1
SALL1
34Annotation 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 conflicti79A → G in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti562T → S in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti562T → S in CAB41399 (PubMed:9973281).Curated1
Sequence conflicti1275V → I in CAB41400 (PubMed:9973281).Curated1
Sequence conflicti1275V → I in CAB41399 (PubMed:9973281).Curated1

Natural variant

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_013156150S → SS1 Publication1
Natural variantiVAR_013155150Missing 1 Publication1
Natural variantiVAR_013157159S → G1 PublicationCorresponds to variant dbSNP:rs13336129EnsemblClinVar.1
Natural variantiVAR_013158164Missing 1 Publication1
Natural variantiVAR_0131591265G → E1 PublicationCorresponds to variant dbSNP:rs149302006EnsemblClinVar.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_0405021 – 97Missing in isoform 2. 1 PublicationAdd BLAST97

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
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS10747.1 [Q9NSC2-1]
CCDS45483.1 [Q9NSC2-2]

NCBI Reference Sequences

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RefSeqi
NP_001121364.1, NM_001127892.1 [Q9NSC2-2]
NP_002959.2, NM_002968.2 [Q9NSC2-1]
XP_006721304.1, XM_006721241.3
XP_011521556.1, XM_011523254.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000251020; ENSP00000251020; ENSG00000103449 [Q9NSC2-1]
ENST00000440970; ENSP00000407914; ENSG00000103449 [Q9NSC2-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6299

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6299

UCSC genome browser

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UCSCi
uc059ucr.1 human [Q9NSC2-1]

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
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
CCDSiCCDS10747.1 [Q9NSC2-1]
CCDS45483.1 [Q9NSC2-2]
RefSeqiNP_001121364.1, NM_001127892.1 [Q9NSC2-2]
NP_002959.2, NM_002968.2 [Q9NSC2-1]
XP_006721304.1, XM_006721241.3
XP_011521556.1, XM_011523254.2

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi112206, 22 interactors
ELMiQ9NSC2
IntActiQ9NSC2, 13 interactors
MINTiQ9NSC2
STRINGi9606.ENSP00000251020

PTM databases

iPTMnetiQ9NSC2
PhosphoSitePlusiQ9NSC2

Polymorphism and mutation databases

BioMutaiSALL1
DMDMi296452895

Proteomic databases

EPDiQ9NSC2
jPOSTiQ9NSC2
MassIVEiQ9NSC2
MaxQBiQ9NSC2
PaxDbiQ9NSC2
PeptideAtlasiQ9NSC2
PRIDEiQ9NSC2
ProteomicsDBi82527 [Q9NSC2-1]
82528 [Q9NSC2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
28330 161 antibodies

The DNASU plasmid repository

More...
DNASUi
6299

Genome annotation databases

EnsembliENST00000251020; ENSP00000251020; ENSG00000103449 [Q9NSC2-1]
ENST00000440970; ENSP00000407914; ENSG00000103449 [Q9NSC2-2]
GeneIDi6299
KEGGihsa:6299
UCSCiuc059ucr.1 human [Q9NSC2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6299
DisGeNETi6299

GeneCards: human genes, protein and diseases

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GeneCardsi
SALL1
GeneReviewsiSALL1
HGNCiHGNC:10524 SALL1
HPAiENSG00000103449 Tissue enhanced (brain, kidney, liver)
MalaCardsiSALL1
MIMi107480 phenotype
602218 gene
neXtProtiNX_Q9NSC2
OpenTargetsiENSG00000103449
Orphaneti857 Townes-Brocks syndrome
PharmGKBiPA34932

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1074 Eukaryota
ENOG410ZE3Z LUCA
GeneTreeiENSGT00940000155938
InParanoidiQ9NSC2
KOiK19871
OMAiQADCSDL
OrthoDBi244207at2759
PhylomeDBiQ9NSC2
TreeFamiTF317003

Enzyme and pathway databases

ReactomeiR-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
SIGNORiQ9NSC2

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SALL1

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

More...
GenomeRNAii
6299
PharosiQ9NSC2 Tbio

Protein Ontology

More...
PROi
PR:Q9NSC2
RNActiQ9NSC2 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000103449 Expressed in metanephros and 143 other tissues
ExpressionAtlasiQ9NSC2 baseline and differential
GenevisibleiQ9NSC2 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, 9 hits
SUPFAMiSSF57667 SSF57667, 5 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 9 hits
PS50157 ZINC_FINGER_C2H2_2, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiSALL1_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: Q9NSC2
Secondary accession number(s): Q99881, Q9NSC3, Q9P1R0
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: April 22, 2020
This is version 173 of the entry and version 2 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

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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