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SMARCD1
HPA
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  • SUMMARY

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  • STRUCT & INT

  • SMARCD1
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

SMARCD1
Synonyms BAF60A, CRACD1, Rsc6p
Gene descriptioni

Full gene name according to HGNC.

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Low cell type specificity
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Non-specific - Transcription (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm In addition localized to the Vesicles
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 12
Cytoband q13.12
Chromosome location (bp) 50085200 - 50100707
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

6
Ensembl ENSG00000066117 (version 109)
Entrez gene 6602
HGNC HGNC:11106
UniProt Q96GM5 (UniProt - Evidence at protein level)
neXtProt NX_Q96GM5
GeneCards SMARCD1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
SMARCD1-201
SMARCD1-202
SMARCD1-205
SMARCD1-209
SMARCD1-211
SMARCD1-212

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Clinical
Alphamissense variants:
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Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
SMARCD1-201
Q96GM5
Show all
Predicted intracellular proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
474 aa
53.3 kDa
No 0
SMARCD1-202
Q96GM5
Show all
Predicted intracellular proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
515 aa
58.2 kDa
No 0
SMARCD1-205
F8VRQ4
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
313 aa
36.8 kDa
No 0
SMARCD1-209
F8VUB0
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
289 aa
32 kDa
No 0
SMARCD1-211
F8VW95
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
113 aa
12.8 kDa
No 0
SMARCD1-212
F8VZ70
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
278 aa
30.3 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Non-specific - Transcription

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 17
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTL6A221957240
ARID1A17544180
ARID1B11431100
BICRA321320
BRD7111442150
BRD9311932
CALCOCO2201185705
DPF2111032154
MED44534763920
PHF1011019220
SMARCA43214133362
SMARCB1213380270
SMARCC1183380201
SMARCC2191084170
SMARCE1235755280
SS18622970
WWP2185213911
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 105 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABI3150300
ACTL6A221957240
ADAT204000
ANKRD23017100
ANKRD49244022
ARRDC36361100
ATXN1532727020
BCAS21750271737
BEND5215200
BEX3025200
BLOC1S54104013
C1orf1091121102
CALCOCO2201185705
CCDC102B387300
CDC5L40481281829
CDR28681224
CEACAM6025000
COG62491100
COL1A239504
CUEDC1277019
CYSRT10397100
DCTN2183535130
DNALI1161100
ESS2311915
FAM136A08518
FAM161A3118400
GFAP81481700
GIGYF16271171
GINS359713
GOLGA6L90177000
GPRASP3050100
GRAMD4010200
HES615200
HOXD303003
HSF2BP3224500
HTRA25554010
HTT366675600
IKZF341312200
INSC19100
JPH30147000
KATNBL1231204
KEAP1195462212
KIAA07533172800
KLF110165200
KRT15201002800
KRT169461400
KRT275113600
KRT31172841900
KRT342201200
KRT37036000
KRT3816571900
KRT7581031000
LDB2421400
LDOC1482902
LSAMP012000
LZTS2211784547
MAGEA2225402
MAGEA2B225202
MAGEA6160200
MED44534763920
MKRN341181102
NAB21622018
NDUFV24612328
NELFA6911145
NUDT16L1114432
NUP58377640
OPTN2312871214
PACSIN371313102
PBX4361401
PIAS46353606
PICK1102763309
PIH1D1211951018
PKNOX2130100
PLAGL2036000
PPM1J03100
PRPH8571400
PSTPIP1442700
RELB891938
SCNM12148330
SERTAD3237300
SHISA6020000
SMARCA43214133362
SMARCC1183380201
SMARCC2191084170
SNF88191142
SPSB2798027
STH016100
STMN3018214
TARDBP151417170
TCP10L228203
THOC76512203
TRIM27182335900
TRIM542151700
TRIM7207901
USHBP181621200
VPS37B622982
WWP2185213911
YJU2B1191018
ZMAT5016006
ZMYND12066000
ZNF4173140311
ZNF438050000
ZNF511112100
ZNF629214238
ZNF6552117350
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 47
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTC1628837
ACTL6A221957240
AR344225300
ARID1A17544180
ARID1B11431100
ARID2552210
BCL7A022200
BCL7B2313221
BCL7C102830
BICRA321320
BRD21155960
BRD3018500
BRD43548702
BRD7111442150
BRD9311932
CALCOCO2201185705
CARM16104430
CHFR451910
DPF1302130
DPF2111032154
DPF3202520
FEZ1671800
FUS142814760
GATA13102200
KPNA2303680437
MDC1777100
MED44534763920
MYC6588126320
NONO7764131
NR3C141010231
PBRM1233100
PHF1011019220
PRKN1111140500
SMARCA2886220
SMARCA43214133362
SMARCB1213380270
SMARCC1183380201
SMARCC2191084170
SMARCD214435150
SMARCD3002200
SMARCE1235755280
SOX25819800
SS18622970
SS18L1261220
TP53BP112716520
WWP2185213911
YAP13132300100
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 16
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTB742717711134
ACTG12915661160
ACTL6A221957240
ARID1A17544180
ARID1B11431100
BICRA321320
BRD7111442150
BRD9311932
DPF2111032154
PHF1011019220
SMARCA43214133362
SMARCB1213380270
SMARCC1183380201
SMARCC2191084170
SMARCE1235755280
SS18622970
Show allShow less
SMARCD1 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

SMARCD1 is not a metabolic protein

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