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UniProtKB - Q9NZC9 (SMAL1_HUMAN)

Entry version 163 (22 Apr 2020)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Gene

SMARCAL1

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

ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi458 – 465ATPPROSITE-ProRule annotation8

<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

  • annealing helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • DNA-dependent ATPase activity Source: UniProtKB
  • DNA helicase activity Source: GO_Central
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionHelicase, Hydrolase
LigandATP-binding, Nucleotide-binding

<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:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC:3.6.4.-)
Alternative name(s):
HepA-related protein
Short name:
hHARP
Sucrose nonfermenting protein 2-like 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:SMARCAL1
Synonyms:HARP
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11102 SMARCAL1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606622 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NZC9

<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

Schimke immuno-osseous dysplasia (SIOD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.
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_021370468A → P in SIOD. 1 Publication1
Natural variantiVAR_021371548I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar.1
Natural variantiVAR_021372579S → L in SIOD. 1 Publication1
Natural variantiVAR_021373586R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar.1
Natural variantiVAR_021374644R → W in SIOD. 1 PublicationCorresponds to variant dbSNP:rs1313658611Ensembl.1
Natural variantiVAR_021375645R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar.1
Natural variantiVAR_021376647K → Q in SIOD. 1 Publication1
Natural variantiVAR_021377647K → T in SIOD. 1 Publication1
Natural variantiVAR_021379705T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381EnsemblClinVar.1
Natural variantiVAR_021381764R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar.1
Natural variantiVAR_021382820R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi17 – 19RQK → AAA: Loss of interaction with RPA2 and impaired recruitment by the RPA complex to sites of DNA damage. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		50485

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

More...GeneReviewsi		SMARCAL1

MalaCards human disease database

More...MalaCardsi		SMARCAL1
MIMi242900 phenotype

Open Targets

More...OpenTargetsi		ENSG00000138375

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

More...Orphaneti		1830 Schimke immuno-osseous dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35952

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NZC9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMARCAL1

Domain mapping of disease mutations (DMDM)

More...DMDMi		60390962

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000743482 – 954SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1Add BLAST953

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 residuei2N-acetylserineCombined sources1
Modified residuei112PhosphoserineCombined sources1
Modified residuei123PhosphoserineCombined sources1
Modified residuei129PhosphoserineCombined sources1
Modified residuei151PhosphoserineCombined sources1
Modified residuei198PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

DNA damage-regulated phosphorylation by kinases that may include ATM, ATR and PRKDC.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NZC9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NZC9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NZC9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NZC9

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

More...PaxDbi		Q9NZC9

PeptideAtlas

More...PeptideAtlasi		Q9NZC9

PRoteomics IDEntifications database

More...PRIDEi		Q9NZC9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83371

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NZC9

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9NZC9

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

More...PhosphoSitePlusi		Q9NZC9

<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

Ubiquitously expressed, with high levels in testis.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000138375 Expressed in corpus callosum and 95 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NZC9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NZC9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000138375 Low tissue specificity

<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 RPA2; the interaction is direct and mediates the recruitment by the RPA complex of SMARCAL1 to sites of DNA damage.

3 Publications

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		119072, 12 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9NZC9

Protein interaction database and analysis system

More...IntActi		Q9NZC9, 11 interactors

Molecular INTeraction database

More...MINTi		Q9NZC9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000349823

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NZC9 protein

<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

1954
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

More...SMRi		Q9NZC9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini226 – 303HARP 1PROSITE-ProRule annotationAdd BLAST78
Domaini327 – 398HARP 2PROSITE-ProRule annotationAdd BLAST72
Domaini445 – 600Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST156
Domaini716 – 869Helicase C-terminalPROSITE-ProRule annotationAdd BLAST154

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 30Mediates interaction with RPA2Add BLAST29

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili3 – 34Sequence analysisAdd BLAST32

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi549 – 552DESH box4

<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

Belongs to the SNF2/RAD54 helicase family. SMARCAL1 subfamily.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1000 Eukaryota
COG0553 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157608

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NZC9

KEGG Orthology (KO)

More...KOi		K14440

Identification of Orthologs from Complete Genome Data

More...OMAi		SIMEMFQ

Database of Orthologous Groups

More...OrthoDBi		1082831at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NZC9

TreeFam database of animal gene trees

More...TreeFami		TF106474

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR030101 HARP(SMARCAL1)
IPR010003 HARP_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

The PANTHER Classification System

More...PANTHERi		PTHR45766:SF3 PTHR45766:SF3, 2 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07443 HARP, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51467 HARP, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

<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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

Q9NZC9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLPLTEEQR KKIEENRQKA LARRAEKLLA EQHQRTSSGT SIAGNPFQAK 
        60         70         80         90        100
QGPSQNFPRE SCKPVSHGVI FKQQNLSSSS NADQRPHDSH SFQAKGIWKK 
       110        120        130        140        150
PEEMPTACPG HSPRSQMALT GISPPLAQSP PEVPKQQLLS YELGQGHAQA 
       160        170        180        190        200
SPEIRFTPFA NPTHKPLAKP KSSQETPAHS SGQPPRDAKL EAKTAKASPS 
       210        220        230        240        250
GQNISYIHSS SESVTPRTEG RLQQKSGSSV QKGVNSQKGK CVRNGDRFQV 
       260        270        280        290        300
LIGYNAELIA VFKTLPSKNY DPDTKTWNFS MNDYSALMKA AQSLPTVNLQ 
       310        320        330        340        350
PLEWAYGSSE SPSTSSEGQA GLPSAPSLSF VKGRCMLISR AYFEADISYS 
       360        370        380        390        400
QDLIALFKQM DSRRYDVKTR KWSFLLEEHS KLIAKVRCLP QVQLDPLPTT 
       410        420        430        440        450
LTLAFASQLK KTSLSLTPDV PEADLSEVDP KLVSNLMPFQ RAGVNFAIAK 
       460        470        480        490        500
GGRLLLADDM GLGKTIQAIC IAAFYRKEWP LLVVVPSSVR FTWEQAFLRW 
       510        520        530        540        550
LPSLSPDCIN VVVTGKDRLT AGLINIVSFD LLSKLEKQLK TPFKVVIIDE 
       560        570        580        590        600
SHFLKNSRTA RCRAAMPVLK VAKRVILLSG TPAMSRPAEL YTQIIAVKPT 
       610        620        630        640        650
FFPQFHAFGL RYCDAKRMPW GWDYSGSSNL GELKLLLEEA VMLRRLKSDV 
       660        670        680        690        700
LSQLPAKQRK IVVIAPGRIN ARTRAALDAA AKEMTTKDKT KQQQKDALIL 
       710        720        730        740        750
FFNRTAEAKI PSVIEYILDL LESGREKFLV FAHHKVVLDA ITQELERKHV 
       760        770        780        790        800
QHIRIDGSTS SAEREDLCQQ FQLSERHAVA VLSITAANMG LTFSSADLVV 
       810        820        830        840        850
FAELFWNPGV LIQAEDRVHR IGQTSSVGIH YLVAKGTADD YLWPLIQEKI 
       860        870        880        890        900
KVLAEAGLSE TNFSEMTEST DYLYKDPKQQ KIYDLFQKSF EKEGSDMELL 
       910        920        930        940        950
EAAESFDPGS ASGTSGSSSQ NMGDTLDESS LTASPQKKRR FEFFDNWDSF 

TSPL
Length:954
Mass (Da):105,938
Last modified:October 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:iC5C762C24A2FDD3A
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BYI2H7BYI2_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
796Annotation score:

Annotation score:2 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>
H7C051H7C051_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
325Annotation 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>
C9JHQ1C9JHQ1_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
141Annotation 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>
C9JP32C9JP32_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
92Annotation 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>
C9J6I8C9J6I8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
145Annotation 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>
C9J8F8C9J8F8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
130Annotation 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>
H7C1I3H7C1I3_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
161Annotation 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>
C9JS37C9JS37_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAL1
19Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA90955 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti118A → T in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti335C → G in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti344E → K in BAA90955 (PubMed:14702039).Curated1
Sequence conflicti882I → M in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti900L → V in AAF24984 (PubMed:10857751).Curated1
Sequence conflicti911A → G in AAF24984 (PubMed:10857751).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03837022A → G1 PublicationCorresponds to variant dbSNP:rs17851400Ensembl.1
Natural variantiVAR_02136343A → T. Corresponds to variant dbSNP:rs2066524EnsemblClinVar.1
Natural variantiVAR_021364114R → H. Corresponds to variant dbSNP:rs11555797EnsemblClinVar.1
Natural variantiVAR_021366207I → F. Corresponds to variant dbSNP:rs6734114Ensembl.1
Natural variantiVAR_021367315S → R. Corresponds to variant dbSNP:rs2066522EnsemblClinVar.1
Natural variantiVAR_021368377E → Q2 PublicationsCorresponds to variant dbSNP:rs2066518EnsemblClinVar.1
Natural variantiVAR_021369424D → V. Corresponds to variant dbSNP:rs2066520EnsemblClinVar.1
Natural variantiVAR_036026432L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_021370468A → P in SIOD. 1 Publication1
Natural variantiVAR_021371548I → N in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473036EnsemblClinVar.1
Natural variantiVAR_021372579S → L in SIOD. 1 Publication1
Natural variantiVAR_021373586R → W in SIOD; impairs without abolishing annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs119473038EnsemblClinVar.1
Natural variantiVAR_021374644R → W in SIOD. 1 PublicationCorresponds to variant dbSNP:rs1313658611Ensembl.1
Natural variantiVAR_021375645R → C in SIOD. 1 PublicationCorresponds to variant dbSNP:rs119473037EnsemblClinVar.1
Natural variantiVAR_021376647K → Q in SIOD. 1 Publication1
Natural variantiVAR_021377647K → T in SIOD. 1 Publication1
Natural variantiVAR_021378649D → N. Corresponds to variant dbSNP:rs2066523Ensembl.1
Natural variantiVAR_021379705T → I in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200644381EnsemblClinVar.1
Natural variantiVAR_021380742T → M. Corresponds to variant dbSNP:rs2271336EnsemblClinVar.1
Natural variantiVAR_021381764R → Q in SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. 3 PublicationsCorresponds to variant dbSNP:rs267607071EnsemblClinVar.1
Natural variantiVAR_021382820R → H in SIOD. 1 PublicationCorresponds to variant dbSNP:rs200666300Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF082179 mRNA Translation: AAF24984.1
AF210842 AF210841 Genomic DNA Translation: AAF70454.1
AF432223 mRNA Translation: AAL73034.1
AC098820 Genomic DNA Translation: AAX93097.1
CH471063 Genomic DNA Translation: EAW70567.1
BC016482 mRNA Translation: AAH16482.1
BC043341 mRNA Translation: AAH43341.1
AL122076 mRNA Translation: CAB59251.1
AK000117 mRNA Translation: BAA90955.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2403.1

Protein sequence database of the Protein Information Resource

More...PIRi		T34557

NCBI Reference Sequences

More...RefSeqi		NP_001120679.1, NM_001127207.1
NP_054859.2, NM_014140.3
XP_005246688.1, XM_005246631.2
XP_005246689.1, XM_005246632.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357276; ENSP00000349823; ENSG00000138375
ENST00000358207; ENSP00000350940; ENSG00000138375

Database of genes from NCBI RefSeq genomes

More...GeneIDi		50485

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:50485

UCSC genome browser

More...UCSCi		uc002vgc.5 human

Keywords - Coding sequence diversityi

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

SMARCAL1base

SMARCAL1 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF082179 mRNA Translation: AAF24984.1
AF210842 AF210841 Genomic DNA Translation: AAF70454.1
AF432223 mRNA Translation: AAL73034.1
AC098820 Genomic DNA Translation: AAX93097.1
CH471063 Genomic DNA Translation: EAW70567.1
BC016482 mRNA Translation: AAH16482.1
BC043341 mRNA Translation: AAH43341.1
AL122076 mRNA Translation: CAB59251.1
AK000117 mRNA Translation: BAA90955.1 Different initiation.
CCDSiCCDS2403.1
PIRiT34557
RefSeqiNP_001120679.1, NM_001127207.1
NP_054859.2, NM_014140.3
XP_005246688.1, XM_005246631.2
XP_005246689.1, XM_005246632.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MQVX-ray1.95B/D5-30[»]
SMRiQ9NZC9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119072, 12 interactors
ELMiQ9NZC9
IntActiQ9NZC9, 11 interactors
MINTiQ9NZC9
STRINGi9606.ENSP00000349823

PTM databases

iPTMnetiQ9NZC9
MetOSiteiQ9NZC9
PhosphoSitePlusiQ9NZC9

Polymorphism and mutation databases

BioMutaiSMARCAL1
DMDMi60390962

Proteomic databases

EPDiQ9NZC9
jPOSTiQ9NZC9
MassIVEiQ9NZC9
MaxQBiQ9NZC9
PaxDbiQ9NZC9
PeptideAtlasiQ9NZC9
PRIDEiQ9NZC9
ProteomicsDBi83371

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34237 179 antibodies

The DNASU plasmid repository

More...DNASUi		50485

Genome annotation databases

EnsembliENST00000357276; ENSP00000349823; ENSG00000138375
ENST00000358207; ENSP00000350940; ENSG00000138375
GeneIDi50485
KEGGihsa:50485
UCSCiuc002vgc.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		50485
DisGeNETi50485

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMARCAL1
GeneReviewsiSMARCAL1
HGNCiHGNC:11102 SMARCAL1
HPAiENSG00000138375 Low tissue specificity
MalaCardsiSMARCAL1
MIMi242900 phenotype
606622 gene
neXtProtiNX_Q9NZC9
OpenTargetsiENSG00000138375
Orphaneti1830 Schimke immuno-osseous dysplasia
PharmGKBiPA35952

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1000 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00940000157608
InParanoidiQ9NZC9
KOiK14440
OMAiSIMEMFQ
OrthoDBi1082831at2759
PhylomeDBiQ9NZC9
TreeFamiTF106474

Miscellaneous databases

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

More...ChiTaRSi		SMARCAL1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMARCAL1

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

More...GenomeRNAii		50485
PharosiQ9NZC9 Tbio

Protein Ontology

More...PROi		PR:Q9NZC9
RNActiQ9NZC9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000138375 Expressed in corpus callosum and 95 other tissues
ExpressionAtlasiQ9NZC9 baseline and differential
GenevisibleiQ9NZC9 HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR030101 HARP(SMARCAL1)
IPR010003 HARP_dom
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PANTHERiPTHR45766:SF3 PTHR45766:SF3, 2 hits
PfamiView protein in Pfam
PF07443 HARP, 2 hits
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51467 HARP, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

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 nameiSMAL1_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: Q9NZC9
Secondary accession number(s): A6NEH0
, Q53R00, Q96AY1, Q9NXQ5, Q9UFH3, Q9UI93
<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: March 1, 2005
Last sequence update: October 1, 2000
Last modified: April 22, 2020
This is version 163 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, Reference proteome

Documents

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