Details for: EFEMP1

Gene ID: 2202

Symbol: EFEMP1

Ensembl ID: ENSG00000115380

Description: EGF containing fibulin extracellular matrix protein 1

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: embryonic stem cell (CL0002322)
    Fold Change: 89.6716
    Cell Significance Index: -36.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 75.6901
    Cell Significance Index: -35.7400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 68.1588
    Cell Significance Index: -27.6900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.9607
    Cell Significance Index: -27.6500
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 8.4147
    Cell Significance Index: 89.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 5.4439
    Cell Significance Index: 145.3600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 4.1656
    Cell Significance Index: 81.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.4438
    Cell Significance Index: 39.3000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.2752
    Cell Significance Index: 8.6400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 1.2231
    Cell Significance Index: 61.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.1863
    Cell Significance Index: 34.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.1223
    Cell Significance Index: 712.7900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0973
    Cell Significance Index: 150.6900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.0810
    Cell Significance Index: 17.1500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.9040
    Cell Significance Index: 13.7300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7595
    Cell Significance Index: 97.3600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6079
    Cell Significance Index: 268.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3773
    Cell Significance Index: 43.9700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.3307
    Cell Significance Index: 4.6300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2682
    Cell Significance Index: 505.0800
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.1535
    Cell Significance Index: 0.9200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1440
    Cell Significance Index: 221.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1016
    Cell Significance Index: 36.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0356
    Cell Significance Index: 26.9600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0318
    Cell Significance Index: 0.6800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0285
    Cell Significance Index: 15.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0097
    Cell Significance Index: 17.8300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0133
    Cell Significance Index: -1.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0143
    Cell Significance Index: -10.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0208
    Cell Significance Index: -28.3500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0410
    Cell Significance Index: -28.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0443
    Cell Significance Index: -20.1000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0515
    Cell Significance Index: -0.8900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0629
    Cell Significance Index: -39.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0664
    Cell Significance Index: -49.2200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0807
    Cell Significance Index: -14.5400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0869
    Cell Significance Index: -49.0300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0896
    Cell Significance Index: -1.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0935
    Cell Significance Index: -11.5000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0978
    Cell Significance Index: -3.4000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1229
    Cell Significance Index: -35.3500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1277
    Cell Significance Index: -13.0500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1298
    Cell Significance Index: -25.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1354
    Cell Significance Index: -27.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1697
    Cell Significance Index: -21.9300
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: -0.1831
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2361
    Cell Significance Index: -49.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2419
    Cell Significance Index: -11.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2566
    Cell Significance Index: -43.8100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2582
    Cell Significance Index: -29.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2842
    Cell Significance Index: -21.1800
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3130
    Cell Significance Index: -4.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3457
    Cell Significance Index: -36.0000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3475
    Cell Significance Index: -26.6700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3712
    Cell Significance Index: -26.2500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3956
    Cell Significance Index: -31.3300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4072
    Cell Significance Index: -21.2100
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.4606
    Cell Significance Index: -4.3800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.4647
    Cell Significance Index: -3.7100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4859
    Cell Significance Index: -13.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5149
    Cell Significance Index: -7.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5288
    Cell Significance Index: -35.5600
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.5828
    Cell Significance Index: -6.6700
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.5984
    Cell Significance Index: -7.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6102
    Cell Significance Index: -39.3700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.6192
    Cell Significance Index: -38.0600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6196
    Cell Significance Index: -37.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6640
    Cell Significance Index: -41.8500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.6752
    Cell Significance Index: -31.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6891
    Cell Significance Index: -38.6700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.7986
    Cell Significance Index: -41.9300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.9025
    Cell Significance Index: -12.6500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.9177
    Cell Significance Index: -40.5900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.9237
    Cell Significance Index: -33.9100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.9540
    Cell Significance Index: -15.7200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.9598
    Cell Significance Index: -28.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9804
    Cell Significance Index: -50.9300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0576
    Cell Significance Index: -27.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0751
    Cell Significance Index: -40.7100
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -1.1545
    Cell Significance Index: -11.1300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1863
    Cell Significance Index: -41.5600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -1.2167
    Cell Significance Index: -30.3400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.2402
    Cell Significance Index: -25.9600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.2666
    Cell Significance Index: -41.4700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.2800
    Cell Significance Index: -31.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.3263
    Cell Significance Index: -42.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.3356
    Cell Significance Index: -34.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.3843
    Cell Significance Index: -39.5100
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -1.3918
    Cell Significance Index: -16.4000
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: -1.4151
    Cell Significance Index: -15.2200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.4204
    Cell Significance Index: -38.0000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.4350
    Cell Significance Index: -38.4500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.4386
    Cell Significance Index: -50.5500
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.4409
    Cell Significance Index: -29.3200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -1.4445
    Cell Significance Index: -28.4300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.4450
    Cell Significance Index: -29.0100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -1.4804
    Cell Significance Index: -26.1600
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -1.5027
    Cell Significance Index: -16.8000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -1.5205
    Cell Significance Index: -38.7400

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** EFEMP1 is a member of the fibulin family, which is characterized by the presence of fibulin-like domains. These domains are responsible for the binding of EFEMP1 to various ligands, including epidermal growth factor (EGF), collagen, and elastin. The protein's structure consists of a fibulin-like domain, a collagenous domain, and a transmembrane domain, which allows it to interact with the extracellular matrix and other cells. EFEMP1 is also known to be involved in the regulation of cell growth and differentiation, making it an attractive target for therapeutic interventions in various diseases. **Pathways and Functions** EFEMP1 is involved in several key pathways, including: 1. **Extracellular matrix organization**: EFEMP1 plays a crucial role in the organization and assembly of the extracellular matrix, which is essential for maintaining tissue structure and function. 2. **Cell growth and differentiation**: EFEMP1 regulates cell growth and differentiation by interacting with growth factors, such as EGF, and influencing signaling pathways that control cell proliferation and survival. 3. **Visual perception**: EFEMP1 is highly expressed in the retina and is involved in the development and maintenance of visual function. Mutations in the EFEMP1 gene have been linked to retinal disorders, such as retinitis pigmentosa. 4. **Cancer**: EFEMP1 has been implicated in the development and progression of various cancers, including lung, breast, and prostate cancer. Its expression is often downregulated in cancer cells, making it a potential therapeutic target. 5. **Wound healing**: EFEMP1 is involved in the wound healing process by regulating the assembly of the extracellular matrix and promoting tissue repair. **Clinical Significance** EFEMP1 has been implicated in various diseases, including: 1. **Retinal disorders**: Mutations in the EFEMP1 gene have been linked to retinitis pigmentosa, a degenerative eye disorder that affects peripheral and night vision. 2. **Cancer**: EFEMP1 is often downregulated in cancer cells, making it a potential therapeutic target for cancer treatment. 3. **Wound healing**: EFEMP1 plays a crucial role in wound healing, and its dysregulation can lead to impaired tissue repair and chronic wounds. 4. **Prostate cancer**: EFEMP1 is highly expressed in prostate cancer cells and is often downregulated in benign prostatic hyperplasia. 5. **Lung cancer**: EFEMP1 is involved in the development and progression of lung cancer, and its expression is often downregulated in lung cancer cells. In conclusion, EFEMP1 is a multifunctional protein that plays a critical role in various physiological and pathological processes. Its dysregulation has been implicated in various diseases, making it an attractive target for therapeutic interventions. Further research is needed to fully understand the mechanisms of EFEMP1 and its role in human disease.

Genular Protein ID: 1770017341

Symbol: FBLN3_HUMAN

Name: EGF-containing fibulin-like extracellular matrix protein 1

UniProtKB Accession Codes:

Q12805 A8K3I4 B4DW75 D6W5D2 Q541U7

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 20 Ensembl 2 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SMART 2 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7799918

Title: An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis.

PubMed ID: 7799918

DOI: 10.1128/mcb.15.1.120

PubMed ID: 8812496

Title: Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin.

PubMed ID: 8812496

DOI: 10.1006/geno.1996.0402

PubMed ID: 10601734

Title: Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4.

PubMed ID: 10601734

DOI: 10.1016/s0945-053x(99)00038-4

PubMed ID: 11262647

Title: EFEMP1 is not associated with sporadic early onset drusen.

PubMed ID: 11262647

DOI: 10.1076/opge.22.1.27.2239

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 12242346

Title: Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

PubMed ID: 12242346

DOI: 10.1073/pnas.202491599

PubMed ID: 15123717

Title: Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.

PubMed ID: 15123717

DOI: 10.1074/jbc.m403026200

PubMed ID: 19804359

Title: EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells.

PubMed ID: 19804359

DOI: 10.1515/bc.2009.140

PubMed ID: 19275936

Title: ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain.

PubMed ID: 19275936

DOI: 10.1016/j.matbio.2009.02.003

PubMed ID: 19887559

Title: Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion.

PubMed ID: 19887559

DOI: 10.1158/1541-7786.mcr-09-0207

PubMed ID: 20005202

Title: Fibulin-3 negatively regulates chondrocyte differentiation.

PubMed ID: 20005202

DOI: 10.1016/j.bbrc.2009.12.034

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10369267

Title: A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy.

PubMed ID: 10369267

DOI: 10.1038/9722

PubMed ID: 11384588

Title: Dominant radial drusen and Arg345Trp EFEMP1 mutation.

PubMed ID: 11384588

DOI: 10.1016/s0002-9394(00)00926-0

PubMed ID: 17666404

Title: The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.

PubMed ID: 17666404

DOI: 10.1093/hmg/ddm198

PubMed ID: 26162006

Title: Exome sequencing identifies a missense variant in EFEMP1 co-segregating in a family with autosomal dominant primary open-angle glaucoma.

PubMed ID: 26162006

DOI: 10.1371/journal.pone.0132529

PubMed ID: 31792352

Title: Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

PubMed ID: 31792352

DOI: 10.1038/s41431-019-0546-7

PubMed ID: 32006683

Title: Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

PubMed ID: 32006683

DOI: 10.1016/j.ejmg.2020.103869

PubMed ID: 33807164

Title: Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

PubMed ID: 33807164

DOI: 10.3390/genes12040510

PubMed ID: 34923728

Title: EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.

PubMed ID: 34923728

DOI: 10.1002/humu.24320

PubMed ID: 35490425

Title: EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.

PubMed ID: 35490425

DOI: 10.1002/humu.24395

PubMed ID: 35998264

Title: A loss-of-function cysteine mutant in fibulin-3 (EFEMP1) forms aberrant extracellular disulfide-linked homodimers and alters extracellular matrix composition.

PubMed ID: 35998264

DOI: 10.1002/humu.24452

Sequence Information:

  • Length: 493
  • Mass: 54641
  • Checksum: 128CA5ED140DF414
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS 
PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY 
PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA 
NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS 
VLRLTIIVGP FSF

Genular Protein ID: 4211437223

Symbol: A0A0S2Z3V1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3V1

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 GO 1 Gene3D 1 IntAct 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 RefSeq 2 SAM 1 SMART 2 SUPFAM 2

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 413
  • Mass: 45723
  • Checksum: 7A105B1E64DFEF2C
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECRT SSYLCQYQCV NEPGKFSCMC 
PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY PRNPCQDPYI LTPENRCVCP 
VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA NTINTFRIKS GNENGEFYLR 
QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS VLRLTIIVGP FSF

Genular Protein ID: 1417063312

Symbol: B2R6M6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R6M6

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 1 Gene3D 1 InterPro 8 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 1 SAM 1 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 493
  • Mass: 54627
  • Checksum: FE5CA5F5AFAEECAF
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS 
PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY 
PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTVYA 
NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS 
VLRLTIIVGP FSF

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.