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Entry version 177 (11 Dec 2019)
Sequence version 2 (05 Oct 2010)
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Protein

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

Gene

SMARCAD1

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

DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restoration of silencing.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 bindingi521 – 529ATPPROSITE-ProRule annotation9
Nucleotide bindingi897 – 904ATPPROSITE-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

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 functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9H4L7

<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:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC:3.6.4.12)
Alternative name(s):
ATP-dependent helicase 1
Short name:
hHEL1
<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:SMARCAD1
Synonyms:KIAA1122
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000163104.17

Human Gene Nomenclature Database

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HGNCi
HGNC:18398 SMARCAD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612761 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H4L7

<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

Chromosome, 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

Adermatoglyphia (ADERM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in ADERM.2 Publications
Disease descriptionAn autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles.
Related information in OMIM
Basan syndrome (BSNS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry. Splice site mutations causing aberrant splicing of skin-specific isoform 3 are likely to exert a loss-of-function effect and are involved in BSNS.2 Publications
Disease descriptionAn autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints.
Related information in OMIM
Huriez syndrome (HRZ)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by atrophic fibrosis of the skin of the limbs, nail hypoplasia, and palmoplantar keratoderma. Malignant degeneration of affected skin resulting in aggressive squamous cell carcinoma and early metastasis formation is a distinctive feature of the syndrome.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi528K → R: No effect on subcellular localization and on histone deacetylation. 1 Publication1

Keywords - Diseasei

Ectodermal dysplasia, Palmoplantar keratoderma

Organism-specific databases

DisGeNET

More...
DisGeNETi
56916

MalaCards human disease database

More...
MalaCardsi
SMARCAD1
MIMi129200 phenotype
136000 phenotype
181600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163104

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

More...
Orphaneti
1658 Absence of fingerprints-congenital milia syndrome
384 Huriez syndrome
289465 Isolated congenital adermatoglyphia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134954731

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9H4L7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SMARCAD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
306526240

<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_00000743561 – 1026SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1Add BLAST1026

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 residuei1N-acetylmethionineCombined sources1
Modified residuei54PhosphothreonineCombined sources1
Modified residuei57PhosphoserineCombined sources1
Modified residuei71PhosphothreonineCombined sources1
<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-linki77Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei79PhosphoserineCombined sources1
Cross-linki84Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei124PhosphoserineCombined sources1
Modified residuei127PhosphoserineCombined sources1
Modified residuei132PhosphoserineCombined sources1
Modified residuei146PhosphoserineCombined sources1
Modified residuei152PhosphoserineCombined sources1
Modified residuei211PhosphoserineCombined sources1
Modified residuei214PhosphoserineCombined sources1
Modified residuei217PhosphotyrosineCombined sources1
Modified residuei239PhosphoserineCombined sources1
Modified residuei242PhosphoserineCombined sources1
Modified residuei302PhosphoserineCombined sources1
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki471Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki724Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki996Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H4L7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H4L7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H4L7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9H4L7

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

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PaxDbi
Q9H4L7

PeptideAtlas

More...
PeptideAtlasi
Q9H4L7

PRoteomics IDEntifications database

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PRIDEi
Q9H4L7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
80860 [Q9H4L7-1]
80861 [Q9H4L7-2]
80862 [Q9H4L7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H4L7

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

More...
PhosphoSitePlusi
Q9H4L7

<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

Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin and esophagus. Expressed in fibroblasts and keratinocytes (at protein level) (PubMed:29409814).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163104 Expressed in 189 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H4L7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H4L7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016737

<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

Binds to DNA preferentially in the vicinity of transcriptional start sites.

Interacts with MSH2 and TRIM28.

Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2.

Interacts with PCNA.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121244, 144 interactors

Protein interaction database and analysis system

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IntActi
Q9H4L7, 19 interactors

Molecular INTeraction database

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MINTi
Q9H4L7

STRING: functional protein association networks

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STRINGi
9606.ENSP00000351947

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9H4L7 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

3D structure databases

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

More...
SMRi
Q9H4L7

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_and_domains_section">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>Domaini157 – 199CUE 1PROSITE-ProRule annotationAdd BLAST43
Domaini251 – 294CUE 2PROSITE-ProRule annotationAdd BLAST44
Domaini509 – 677Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST169
Domaini858 – 1010Helicase C-terminalPROSITE-ProRule annotationAdd BLAST153

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>Motifi628 – 631DEGH box4
Motifi721 – 738Nuclear localization signalSequence analysisAdd BLAST18
Motifi1005 – 1008DEGD 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.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0389 Eukaryota
ENOG410XNUT LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00910000144252

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000172362

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H4L7

KEGG Orthology (KO)

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KOi
K14439

Identification of Orthologs from Complete Genome Data

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OMAi
FPDQDKE

Database of Orthologous Groups

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OrthoDBi
61251at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9H4L7

TreeFam database of animal gene trees

More...
TreeFami
TF105768

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003892 CUE
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51140 CUE, 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_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 (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H4L7-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MNLFNLDRFR FEKRNKIEEA PEATPQPSQP GPSSPISLSA EEENAEGEVS
60 70 80 90 100
RANTPDSDIT EKTEDSSVPE TPDNERKASI SYFKNQRGIQ YIDLSSDSED
110 120 130 140 150
VVSPNCSNTV QEKTFNKDTV IIVSEPSEDE ESQGLPTMAR RNDDISELED
160 170 180 190 200
LSELEDLKDA KLQTLKELFP QRSDNDLLKL IESTSTMDGA IAAALLMFGD
210 220 230 240 250
AGGGPRKRKL SSSSEPYEED EFNDDQSIKK TRLDHGEESN ESAESSSNWE
260 270 280 290 300
KQESIVLKLQ KEFPNFDKQE LREVLKEHEW MYTEALESLK VFAEDQDMQY
310 320 330 340 350
VSQSEVPNGK EVSSRSQNYP KNATKTKLKQ KFSMKAQNGF NKKRKKNVFN
360 370 380 390 400
PKRVVEDSEY DSGSDVGSSL DEDYSSGEEV MEDGYKGKIL HFLQDASIGE
410 420 430 440 450
LTLIPQCSQK KAQKITELRP FNSWEALFTK MSKTNGLSED LIWHCKTLIQ
460 470 480 490 500
ERDVVIRLMN KCEDISNKLT KQVTMLTGNG GGWNIEQPSI LNQSLSLKPY
510 520 530 540 550
QKVGLNWLAL VHKHGLNGIL ADEMGLGKTI QAIAFLAYLY QEGNNGPHLI
560 570 580 590 600
VVPASTIDNW LREVNLWCPT LKVLCYYGSQ EERKQIRFNI HSRYEDYNVI
610 620 630 640 650
VTTYNCAISS SDDRSLFRRL KLNYAIFDEG HMLKNMGSIR YQHLMTINAN
660 670 680 690 700
NRLLLTGTPV QNNLLELMSL LNFVMPHMFS SSTSEIRRMF SSKTKSADEQ
710 720 730 740 750
SIYEKERIAH AKQIIKPFIL RRVKEEVLKQ LPPKKDRIEL CAMSEKQEQL
760 770 780 790 800
YLGLFNRLKK SINNLEKNTE MCNVMMQLRK MANHPLLHRQ YYTAEKLKEM
810 820 830 840 850
SQLMLKEPTH CEANPDLIFE DMEVMTDFEL HVLCKQYRHI NNFQLDMDLI
860 870 880 890 900
LDSGKFRVLG CILSELKQKG DRVVLFSQFT MMLDILEVLL KHHQHRYLRL
910 920 930 940 950
DGKTQISERI HLIDEFNTDM DIFVFLLSTK AGGLGINLTS ANVVILHDID
960 970 980 990 1000
CNPYNDKQAE DRCHRVGQTK EVLVIKLISQ GTIEESMLKI NQQKLKLEQD
1010 1020
MTTVDEGDEG SMPADIATLL KTSMGL
Length:1,026
Mass (Da):117,402
Last modified:October 5, 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:i0A5DB5653F478413
GO
Isoform 2 (identifier: Q9H4L7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     765-765: L → LVT

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Length:1,028
Mass (Da):117,603
Checksum:i0F1C3F3AB7224F23
GO
Isoform 3 (identifier: Q9H4L7-3) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-430: Missing.

Note: Skin-specific.Curated
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Length:596
Mass (Da):68,774
Checksum:i6BBB9C2EB02E2A97
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
D6RAY8D6RAY8_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAD1
244Annotation 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>
F8W9M2F8W9M2_HUMAN
SWI/SNF-related matrix-associated a...
SMARCAD1
70Annotation 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 AAH17953 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA86436 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB14759 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 conflicti215E → D in AAH17953 (PubMed:15489334).Curated1
Sequence conflicti937N → D in BAB14759 (PubMed:14702039).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_02803766S → F. Corresponds to variant dbSNP:rs11723410Ensembl.1
Natural variantiVAR_028038135L → F. Corresponds to variant dbSNP:rs2664891Ensembl.1
Natural variantiVAR_028039140R → C. Corresponds to variant dbSNP:rs2632398Ensembl.1
Natural variantiVAR_028040245S → Y. Corresponds to variant dbSNP:rs3103117Ensembl.1
Natural variantiVAR_028041247S → NCombined sources1 PublicationCorresponds to variant dbSNP:rs11722476Ensembl.1
Natural variantiVAR_028042301V → ACombined sources2 PublicationsCorresponds to variant dbSNP:rs7439869Ensembl.1
Natural variantiVAR_028043351P → Q1 PublicationCorresponds to variant dbSNP:rs17854344Ensembl.1
Natural variantiVAR_028044972V → A1 PublicationCorresponds to variant dbSNP:rs17857297Ensembl.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_0431101 – 430Missing in isoform 3. 1 PublicationAdd BLAST430
Alternative sequenceiVSP_007104765L → LVT in isoform 2. 3 Publications1

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
AY008271 mRNA Translation: AAG16639.1
AB032948 mRNA Translation: BAA86436.2 Different initiation.
AK023990 mRNA Translation: BAB14759.1 Different initiation.
AK027490 mRNA Translation: BAB55150.1
AK301668 mRNA Translation: BAH13535.1
AC096746 Genomic DNA No translation available.
BC017953 mRNA Translation: AAH17953.1 Sequence problems.
BC045534 mRNA Translation: AAH45534.1
AL359929 mRNA Translation: CAB95769.1
AL512768 mRNA Translation: CAC21685.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3639.1 [Q9H4L7-1]
CCDS47101.1 [Q9H4L7-2]
CCDS58914.1 [Q9H4L7-3]

NCBI Reference Sequences

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RefSeqi
NP_001121901.1, NM_001128429.2 [Q9H4L7-2]
NP_001121902.1, NM_001128430.1 [Q9H4L7-2]
NP_001241878.1, NM_001254949.1 [Q9H4L7-3]
NP_064544.2, NM_020159.4 [Q9H4L7-1]
XP_016863952.1, XM_017008463.1 [Q9H4L7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000354268; ENSP00000346217; ENSG00000163104 [Q9H4L7-1]
ENST00000359052; ENSP00000351947; ENSG00000163104 [Q9H4L7-2]
ENST00000457823; ENSP00000415576; ENSG00000163104 [Q9H4L7-2]
ENST00000509418; ENSP00000423286; ENSG00000163104 [Q9H4L7-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
56916

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:56916

UCSC genome browser

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UCSCi
uc003htb.5 human [Q9H4L7-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">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

Protein Spotlight

The ends of our fingers - Issue 136 of March 2012

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008271 mRNA Translation: AAG16639.1
AB032948 mRNA Translation: BAA86436.2 Different initiation.
AK023990 mRNA Translation: BAB14759.1 Different initiation.
AK027490 mRNA Translation: BAB55150.1
AK301668 mRNA Translation: BAH13535.1
AC096746 Genomic DNA No translation available.
BC017953 mRNA Translation: AAH17953.1 Sequence problems.
BC045534 mRNA Translation: AAH45534.1
AL359929 mRNA Translation: CAB95769.1
AL512768 mRNA Translation: CAC21685.1
CCDSiCCDS3639.1 [Q9H4L7-1]
CCDS47101.1 [Q9H4L7-2]
CCDS58914.1 [Q9H4L7-3]
RefSeqiNP_001121901.1, NM_001128429.2 [Q9H4L7-2]
NP_001121902.1, NM_001128430.1 [Q9H4L7-2]
NP_001241878.1, NM_001254949.1 [Q9H4L7-3]
NP_064544.2, NM_020159.4 [Q9H4L7-1]
XP_016863952.1, XM_017008463.1 [Q9H4L7-1]

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
6H3AX-ray5.50B/D95-347[»]
6QU1X-ray3.70D151-198[»]
SMRiQ9H4L7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121244, 144 interactors
IntActiQ9H4L7, 19 interactors
MINTiQ9H4L7
STRINGi9606.ENSP00000351947

PTM databases

iPTMnetiQ9H4L7
PhosphoSitePlusiQ9H4L7

Polymorphism and mutation databases

BioMutaiSMARCAD1
DMDMi306526240

Proteomic databases

EPDiQ9H4L7
jPOSTiQ9H4L7
MassIVEiQ9H4L7
MaxQBiQ9H4L7
PaxDbiQ9H4L7
PeptideAtlasiQ9H4L7
PRIDEiQ9H4L7
ProteomicsDBi80860 [Q9H4L7-1]
80861 [Q9H4L7-2]
80862 [Q9H4L7-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56916

Genome annotation databases

EnsembliENST00000354268; ENSP00000346217; ENSG00000163104 [Q9H4L7-1]
ENST00000359052; ENSP00000351947; ENSG00000163104 [Q9H4L7-2]
ENST00000457823; ENSP00000415576; ENSG00000163104 [Q9H4L7-2]
ENST00000509418; ENSP00000423286; ENSG00000163104 [Q9H4L7-3]
GeneIDi56916
KEGGihsa:56916
UCSCiuc003htb.5 human [Q9H4L7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
56916
DisGeNETi56916
EuPathDBiHostDB:ENSG00000163104.17

GeneCards: human genes, protein and diseases

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GeneCardsi
SMARCAD1
HGNCiHGNC:18398 SMARCAD1
HPAiHPA016737
MalaCardsiSMARCAD1
MIMi129200 phenotype
136000 phenotype
181600 phenotype
612761 gene
neXtProtiNX_Q9H4L7
OpenTargetsiENSG00000163104
Orphaneti1658 Absence of fingerprints-congenital milia syndrome
384 Huriez syndrome
289465 Isolated congenital adermatoglyphia
PharmGKBiPA134954731

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0389 Eukaryota
ENOG410XNUT LUCA
GeneTreeiENSGT00910000144252
HOGENOMiHOG000172362
InParanoidiQ9H4L7
KOiK14439
OMAiFPDQDKE
OrthoDBi61251at2759
PhylomeDBiQ9H4L7
TreeFamiTF105768

Enzyme and pathway databases

SIGNORiQ9H4L7

Miscellaneous databases

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

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ChiTaRSi
SMARCAD1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SMARCAD1

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

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GenomeRNAii
56916
PharosiQ9H4L7 Tbio

Protein Ontology

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PROi
PR:Q9H4L7
RNActiQ9H4L7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163104 Expressed in 189 organ(s), highest expression level in intestine
ExpressionAtlasiQ9H4L7 baseline and differential
GenevisibleiQ9H4L7 HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR003892 CUE
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
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
PS51140 CUE, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

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 nameiSMRCD_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: Q9H4L7
Secondary accession number(s): B7Z799
, Q05D56, Q96SX1, Q9H017, Q9H860, Q9NPU9, Q9ULU7
<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: March 28, 2003
Last sequence update: October 5, 2010
Last modified: December 11, 2019
This is version 177 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

3D-structure, 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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