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SMC1A
HPA
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Brain region
Category
Tau score
Brain region
Category
Tau score
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Reliability
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Variants
Interacting gene (ensg_id)
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Number of interactions
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  • SUMMARY

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  • STRUCT & INT

  • SMC1A
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.

SMC1A
Synonyms DXS423E, KIAA0178, SB1.8, SMC1L1, Smcb
Gene descriptioni

Full gene name according to HGNC.

Structural maintenance of chromosomes 1A
Protein classi

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

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
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 - Cell proliferation (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.

Thymus - Adaptive immune response (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 Cytosol
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 X
Cytoband p11.22
Chromosome location (bp) 53374149 - 53422728
Number of transcriptsi

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

5
Ensembl ENSG00000072501 (version 109)
Entrez gene 8243
HGNC HGNC:11111
UniProt Q14683 (UniProt - Evidence at protein level)
neXtProt NX_Q14683
GeneCards SMC1A
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.
SMC1A-201
SMC1A-202
SMC1A-205
SMC1A-206
SMC1A-208

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
Off
Benign
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)
SMC1A-201
Q14683
Show all
A0A384MR33
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
1233 aa
143.2 kDa
No 0
SMC1A-202
G8JLG1
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1211 aa
140.9 kDa
No 0
SMC1A-205
V9GY57
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
279 aa
31.4 kDa
No 0
SMC1A-206
A0A6Q8PHC3
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
977 aa
112.8 kDa
No 0
SMC1A-208
G8JLG1
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
1211 aa
140.9 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, Thymus - Adaptive immune response

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
CDCA5661631
EEF1AKMT31410169
MAU2321140
MCM61617421115
MCM71526701124
NIPBL531990
PDS5A7723312
PDS5B791650
PLK13351168510
RAD219104677
REC822209
SGO1410910
SMC310106945
STAG188871
STAG21092590
USP13473312
WAPL772430
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 14 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
CDCA5661631
MCM61617421115
MCM71526701124
PDS5A7723312
PDS5B791650
PLK13351168510
RAD219104677
RAE16531102
SGO1410910
SMC310106945
STAG188871
STAG21092590
USP13473312
WAPL772430
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 66
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ADAR8236190
AIRE3121800
ANKRD550171300
ANLN1056620
ATM13199603
BRCA1363930930
BRD43548702
CCNF4462401
CDCA5661631
CEBPA4712700
CHD322149747
CTCF5378610550
CUL3364168420
DCAF1501800
EEF1AKMT31410169
EFTUD254141754630
EP300273436841
EZH2151523470
H3C12552282014
HSPA8644344629101
MAD2L273214502
MATR380112140
MATR341411200
MAU2321140
MCM61617421115
MCM71526701124
MDC1777100
MECOM345820
MEN16316230
MYC6588126320
NCL38151783824
NFKBIA15236242
NIPBL531990
PDCD111118335
PDS5A7723312
PDS5B791650
PHF11453000
PLK13351168510
PRKN1111140500
PRPF31131205700
RAD219104677
RBM15362380
REC822209
RFC1444000
RPA171041711
RPA2111537520
RPA35631311
RPGR45600
SF3B33411805845
SGO1410910
SLX411127600
SMARCA5151875277
SMC2453250
SMC310106945
SNRNP2003014863113
SOX25819800
SRRM111558120
STAG188871
STAG21092590
STAU13213369390
TRIM296132400
TUBA1A129890121
USP13473312
VIRMA82208112
WAPL772430
WDR76306232
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 23
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ARGLU1245220
CDCA5661631
CWF19L236532212
EMC95261284
HAUS245920
HMGN51021131
LSM111161777
MAU2321140
NEK991219212
NIPBL531990
NR3C141010231
PDS5A7723312
PDS5B791650
RAD219104677
RSRC1353310
SIX147641
SMC310106945
SRSF69733240
STAG188871
STAG21092590
SUB11217380
USP13473312
WAPL772430
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 11
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ALPI031032
CDCA5661631
EEF1AKMT31410169
FAM174A0310098
FTL4146099
ITLN1010038
KLHL2063212162
MAP2K2199281056
MGARP11420115
REC822209
VSIG4031082
Show allShow less
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.

SMC1A is not a metabolic protein

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


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