Details for: SMARCD1

Gene ID: 6602

Symbol: SMARCD1

Ensembl ID: ENSG00000066117

Description: SWI/SNF related BAF chromatin remodeling complex subunit D1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 173.4544
    Cell Significance Index: -26.9800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 95.4490
    Cell Significance Index: -24.2100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 65.5180
    Cell Significance Index: -26.9900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 63.8393
    Cell Significance Index: -30.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 59.4451
    Cell Significance Index: -24.1500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 54.4631
    Cell Significance Index: -28.0200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.4519
    Cell Significance Index: -24.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 23.1233
    Cell Significance Index: -28.5100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.9893
    Cell Significance Index: -26.7600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3441
    Cell Significance Index: -28.9800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.4860
    Cell Significance Index: -16.8500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.3505
    Cell Significance Index: -11.7100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4062
    Cell Significance Index: 152.9500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1334
    Cell Significance Index: 132.0800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0596
    Cell Significance Index: 172.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9499
    Cell Significance Index: 25.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6596
    Cell Significance Index: 81.1000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6118
    Cell Significance Index: 31.8700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5704
    Cell Significance Index: 102.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.5543
    Cell Significance Index: 15.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5533
    Cell Significance Index: 35.7000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4835
    Cell Significance Index: 95.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4770
    Cell Significance Index: 65.5000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4764
    Cell Significance Index: 32.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4611
    Cell Significance Index: 251.8400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4581
    Cell Significance Index: 91.9000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4459
    Cell Significance Index: 27.4100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4362
    Cell Significance Index: 27.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4155
    Cell Significance Index: 14.4400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3937
    Cell Significance Index: 38.9500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3657
    Cell Significance Index: 161.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3447
    Cell Significance Index: 17.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3212
    Cell Significance Index: 8.4500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3080
    Cell Significance Index: 21.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2956
    Cell Significance Index: 13.4000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2942
    Cell Significance Index: 34.6900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2833
    Cell Significance Index: 13.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2445
    Cell Significance Index: 11.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2042
    Cell Significance Index: 73.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1846
    Cell Significance Index: 166.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1639
    Cell Significance Index: 9.2000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1522
    Cell Significance Index: 1.2200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1380
    Cell Significance Index: 95.4700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1229
    Cell Significance Index: 15.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1215
    Cell Significance Index: 4.2700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1052
    Cell Significance Index: 2.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0756
    Cell Significance Index: 3.9700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0649
    Cell Significance Index: 11.0900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0634
    Cell Significance Index: 1.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0235
    Cell Significance Index: 3.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0159
    Cell Significance Index: 0.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0082
    Cell Significance Index: 15.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0032
    Cell Significance Index: 4.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0015
    Cell Significance Index: 2.6900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0019
    Cell Significance Index: -0.0500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0042
    Cell Significance Index: -5.7500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0044
    Cell Significance Index: -3.2400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0061
    Cell Significance Index: -4.4600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0122
    Cell Significance Index: -7.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0195
    Cell Significance Index: -12.1500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0209
    Cell Significance Index: -1.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0221
    Cell Significance Index: -1.6500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0238
    Cell Significance Index: -17.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0239
    Cell Significance Index: -0.5000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0260
    Cell Significance Index: -4.9500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0336
    Cell Significance Index: -18.9300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0357
    Cell Significance Index: -0.9600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0394
    Cell Significance Index: -17.8600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0421
    Cell Significance Index: -1.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0627
    Cell Significance Index: -2.7800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0664
    Cell Significance Index: -6.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0719
    Cell Significance Index: -15.1500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0748
    Cell Significance Index: -8.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0749
    Cell Significance Index: -21.5400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0764
    Cell Significance Index: -1.3100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0828
    Cell Significance Index: -1.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0922
    Cell Significance Index: -13.4000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1249
    Cell Significance Index: -4.7300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1636
    Cell Significance Index: -3.7800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1884
    Cell Significance Index: -2.1400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1934
    Cell Significance Index: -4.9700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2124
    Cell Significance Index: -5.6900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2129
    Cell Significance Index: -2.9100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2423
    Cell Significance Index: -16.2900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2426
    Cell Significance Index: -27.7000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2450
    Cell Significance Index: -6.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2652
    Cell Significance Index: -27.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2860
    Cell Significance Index: -22.6600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2895
    Cell Significance Index: -8.3000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3003
    Cell Significance Index: -3.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3256
    Cell Significance Index: -7.1300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3781
    Cell Significance Index: -4.1100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.4022
    Cell Significance Index: -2.4300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.4463
    Cell Significance Index: -6.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4475
    Cell Significance Index: -9.5300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4587
    Cell Significance Index: -13.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4706
    Cell Significance Index: -28.8600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4747
    Cell Significance Index: -13.9400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5036
    Cell Significance Index: -4.2300
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.5067
    Cell Significance Index: -2.8800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SMARCD1 is a member of the SWI/SNF family of proteins, characterized by its ability to interact with actin and other proteins to regulate chromatin structure. The protein is composed of a conserved domain, which is essential for its function. SMARCD1 has been shown to be widely expressed in various cell types, including neural progenitor cells, epithelial cells, and mesenchymal cells. The gene is also involved in the regulation of cell differentiation, proliferation, and survival, making it a potential therapeutic target for various diseases. **Pathways and Functions:** SMARCD1 plays a crucial role in various cellular pathways, including: 1. **Chromatin Remodeling:** SMARCD1 is a key component of the SWI/SNF complex, which is responsible for the regulation of chromatin structure and function. The complex is involved in the removal of histone modifications and the deposition of new histones, leading to changes in gene expression. 2. **Transcriptional Regulation:** SMARCD1 interacts with RNA polymerase II to regulate transcriptional activity. The protein also interacts with other transcription factors to modulate gene expression. 3. **Cell Differentiation:** SMARCD1 is involved in the regulation of cell differentiation, particularly in the development of neural cells and epithelial cells. 4. **Cell Proliferation:** SMARCD1 is also involved in the regulation of cell proliferation, particularly in the context of cancer. **Clinical Significance:** The dysregulation of SMARCD1 has been implicated in various human diseases, including: 1. **Cancer:** SMARCD1 has been shown to be overexpressed in several types of cancer, including breast cancer, lung cancer, and colon cancer. The protein's role in chromatin remodeling and transcriptional regulation makes it a potential therapeutic target for cancer treatment. 2. **Neurological Disorders:** SMARCD1 has been implicated in the regulation of neural cell development and function. Dysregulation of the protein has been linked to neurological disorders, including autism and schizophrenia. 3. **Autoimmune Diseases:** SMARCD1 has been shown to play a role in the regulation of immune responses, particularly in the context of autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. In conclusion, SMARCD1 is a critical regulator of chromatin structure and function, with implications in various cellular processes, including transcriptional regulation, cell differentiation, and proliferation. The dysregulation of the protein has been implicated in various human diseases, making it a potential therapeutic target for the treatment of these disorders.

Genular Protein ID: 720851118

Symbol: SMRD1_HUMAN

Name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1

UniProtKB Accession Codes:

Q96GM5 A6NN27 Q92924 Q9Y635

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 35 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EMDB 3 Ensembl 2 ExpressionAtlas 1 GO 34 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8804307

Title: Diversity and specialization of mammalian SWI/SNF complexes.

PubMed ID: 8804307

DOI: 10.1101/gad.10.17.2117

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8895581

Title: Purification and biochemical heterogeneity of the mammalian SWI-SNF complex.

PubMed ID: 8895581

DOI: 10.1002/j.1460-2075.1996.tb00921.x

PubMed ID: 14698202

Title: Use of a modified yeast one-hybrid screen to identify BAF60a interactions with the Vitamin D receptor heterodimer.

PubMed ID: 14698202

DOI: 10.1016/j.jsbmb.2003.09.006

PubMed ID: 12917342

Title: BAF60a mediates critical interactions between nuclear receptors and the BRG1 chromatin-remodeling complex for transactivation.

PubMed ID: 12917342

DOI: 10.1128/mcb.23.17.6210-6220.2003

PubMed ID: 18765789

Title: Regulation of muscle development by DPF3, a novel histone acetylation and methylation reader of the BAF chromatin remodeling complex.

PubMed ID: 18765789

DOI: 10.1101/gad.471408

PubMed ID: 20460684

Title: Requiem protein links RelB/p52 and the Brm-type SWI/SNF complex in a noncanonical NF-kappaB pathway.

PubMed ID: 20460684

DOI: 10.1074/jbc.m109.087783

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 22952240

Title: SWI/SNF chromatin-remodeling factors: multiscale analyses and diverse functions.

PubMed ID: 22952240

DOI: 10.1074/jbc.r111.309302

PubMed ID: 26601204

Title: Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics.

PubMed ID: 26601204

DOI: 10.1126/sciadv.1500447

PubMed ID: 29374058

Title: Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes.

PubMed ID: 29374058

DOI: 10.1074/jbc.ra117.001065

PubMed ID: 32459350

Title: HRP2-DPF3a-BAF complex coordinates histone modification and chromatin remodeling to regulate myogenic gene transcription.

PubMed ID: 32459350

DOI: 10.1093/nar/gkaa441

PubMed ID: 30879640

Title: A syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI/SNF subunit needed for context-dependent neuronal gene regulation in flies.

PubMed ID: 30879640

DOI: 10.1016/j.ajhg.2019.02.001

Sequence Information:

  • Length: 515
  • Mass: 58233
  • Checksum: E683AA1E345DA400
  • Sequence:
    • MAARAGFQSV APSGGAGASG GAGAAAALGP GGTPGPPVRM GPAPGQGLYR SPMPGAAYPR 
PGMLPGSRMT PQGPSMGPPG YGGNPSVRPG LAQSGMDQSR KRPAPQQIQQ VQQQAVQNRN 
HNAKKKKMAD KILPQRIREL VPESQAYMDL LAFERKLDQT IMRKRLDIQE ALKRPIKQKR 
KLRIFISNTF NPAKSDAEDG EGTVASWELR VEGRLLEDSA LSKYDATKQK RKFSSFFKSL 
VIELDKDLYG PDNHLVEWHR TATTQETDGF QVKRPGDVNV RCTVLLMLDY QPPQFKLDPR 
LARLLGIHTQ TRPVIIQALW QYIKTHKLQD PHEREFVICD KYLQQIFESQ RMKFSEIPQR 
LHALLMPPEP IIINHVISVD PNDQKKTACY DIDVEVDDTL KTQMNSFLLS TASQQEIATL 
DNKIHETIET INQLKTQREF MLSFARDPQG FINDWLQSQC RDLKTMTDVV GNPEEERRAE 
FYFQPWAQEA VCRYFYSKVQ QRRQELEQAL GIRNT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.