Details for: FAM8A1

Gene ID: 51439

Symbol: FAM8A1

Ensembl ID: ENSG00000137414

Description: family with sequence similarity 8 member A1

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: 131.0230
    Cell Significance Index: -20.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 79.4028
    Cell Significance Index: -20.1400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 51.7542
    Cell Significance Index: -21.3200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 45.5814
    Cell Significance Index: -21.5200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.1992
    Cell Significance Index: -17.5500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.0890
    Cell Significance Index: -21.0700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.7346
    Cell Significance Index: -20.7200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.4079
    Cell Significance Index: -21.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.4225
    Cell Significance Index: 239.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.7352
    Cell Significance Index: 202.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.2648
    Cell Significance Index: 205.7000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.0721
    Cell Significance Index: 17.2000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8177
    Cell Significance Index: 88.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6983
    Cell Significance Index: 140.0800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6618
    Cell Significance Index: 9.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5630
    Cell Significance Index: 508.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5388
    Cell Significance Index: 24.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5266
    Cell Significance Index: 33.1900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4470
    Cell Significance Index: 30.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4191
    Cell Significance Index: 83.1800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4076
    Cell Significance Index: 8.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3818
    Cell Significance Index: 52.4300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3546
    Cell Significance Index: 127.2100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3469
    Cell Significance Index: 10.0000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3416
    Cell Significance Index: 186.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2569
    Cell Significance Index: 11.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2228
    Cell Significance Index: 98.4900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2215
    Cell Significance Index: 27.2300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1905
    Cell Significance Index: 24.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1837
    Cell Significance Index: 33.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1810
    Cell Significance Index: 11.6800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1776
    Cell Significance Index: 4.4400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1694
    Cell Significance Index: 3.7100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1393
    Cell Significance Index: 23.7900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1392
    Cell Significance Index: 3.7900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1374
    Cell Significance Index: 2.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1302
    Cell Significance Index: 8.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1218
    Cell Significance Index: 23.1700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0965
    Cell Significance Index: 11.0600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0916
    Cell Significance Index: 1.9500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0894
    Cell Significance Index: 61.8500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0831
    Cell Significance Index: 5.8800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0535
    Cell Significance Index: 3.6000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0337
    Cell Significance Index: 0.2600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0105
    Cell Significance Index: 0.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0096
    Cell Significance Index: 17.9900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0042
    Cell Significance Index: -0.1200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0048
    Cell Significance Index: -3.5200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0050
    Cell Significance Index: -2.8400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0053
    Cell Significance Index: -0.6000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0055
    Cell Significance Index: -4.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0057
    Cell Significance Index: -3.5500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0066
    Cell Significance Index: -4.8700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0066
    Cell Significance Index: -12.0900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0066
    Cell Significance Index: -10.1500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0080
    Cell Significance Index: -10.9400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0105
    Cell Significance Index: -6.6600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0190
    Cell Significance Index: -8.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0263
    Cell Significance Index: -1.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0397
    Cell Significance Index: -1.0600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0414
    Cell Significance Index: -5.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0444
    Cell Significance Index: -9.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0532
    Cell Significance Index: -15.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0622
    Cell Significance Index: -6.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0729
    Cell Significance Index: -3.8300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0795
    Cell Significance Index: -1.3300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0821
    Cell Significance Index: -9.6800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0860
    Cell Significance Index: -12.5000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0920
    Cell Significance Index: -0.7700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1044
    Cell Significance Index: -7.7800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1073
    Cell Significance Index: -3.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1092
    Cell Significance Index: -8.3800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1119
    Cell Significance Index: -4.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1124
    Cell Significance Index: -5.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1169
    Cell Significance Index: -2.7000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1237
    Cell Significance Index: -4.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1365
    Cell Significance Index: -3.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1384
    Cell Significance Index: -3.3200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1463
    Cell Significance Index: -2.8600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1502
    Cell Significance Index: -2.2500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1618
    Cell Significance Index: -4.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1830
    Cell Significance Index: -5.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1902
    Cell Significance Index: -19.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1912
    Cell Significance Index: -11.7200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2140
    Cell Significance Index: -16.9500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2333
    Cell Significance Index: -12.1500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2348
    Cell Significance Index: -8.1600
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2440
    Cell Significance Index: -4.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2490
    Cell Significance Index: -6.4000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2772
    Cell Significance Index: -4.7500
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.2859
    Cell Significance Index: -2.4300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2876
    Cell Significance Index: -6.0200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3468
    Cell Significance Index: -9.1200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3741
    Cell Significance Index: -7.9400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3854
    Cell Significance Index: -3.9900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3885
    Cell Significance Index: -7.1800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4025
    Cell Significance Index: -12.8200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4133
    Cell Significance Index: -13.5300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4288
    Cell Significance Index: -15.0200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4323
    Cell Significance Index: -15.8700

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:** FAM8A1 is a non-coding gene, meaning it does not encode for a protein but instead regulates gene expression through various mechanisms. Its expression is widespread, with significant levels detected in polychromatophilic erythroblasts, hematopoietic oligopotent progenitor cells, embryonic stem cells, and various types of immune cells. The gene is also involved in multiple signaling pathways, including the ERad pathway and the Hrd1p ubiquitin ligase complex. These pathways are crucial for regulating protein degradation, cell survival, and differentiation. **Pathways and Functions:** The FAM8A1 gene is intricately involved in several key cellular processes, including: 1. **ERad Pathway:** The ERad pathway is a ubiquitin-proteasome system that regulates protein degradation and cell survival. FAM8A1 has been implicated in modulating the activity of this pathway, thereby influencing cell fate decisions and immune responses. 2. **Hrd1p Ubiquitin Ligase Complex:** The Hrd1p ubiquitin ligase complex is a key regulator of protein degradation and quality control in the endoplasmic reticulum. FAM8A1 has been shown to interact with this complex, influencing its activity and thereby regulating protein turnover and cell survival. 3. **Protein Binding:** FAM8A1 has been shown to bind to various proteins, including histone deacetylases and transcription factors, influencing gene expression and cellular differentiation. **Clinical Significance:** The clinical significance of FAM8A1 is multifaceted and far-reaching. Dysregulation of FAM8A1 has been implicated in various immune-related disorders, including: 1. **Autoimmune Diseases:** Altered expression of FAM8A1 has been linked to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis, where immune dysregulation plays a key role. 2. **Cancer:** FAM8A1 has been shown to be overexpressed in certain types of cancer, including leukemia and lymphoma, where it may contribute to tumorigenesis and immune evasion. 3. **Immunodeficiency Disorders:** FAM8A1 has been implicated in immunodeficiency disorders, such as severe combined immunodeficiency (SCID), where impaired FAM8A1 function leads to defective immune cell development and function. In conclusion, FAM8A1 is a gene of increasing immunological relevance, with a wide range of cellular processes and pathways affected by its dysregulation. Further research is needed to fully elucidate the function and clinical significance of FAM8A1, but its implications for our understanding of immune dysfunction and disease are significant.

Genular Protein ID: 3299878274

Symbol: FA8A1_HUMAN

Name: Protein FAM8A1

UniProtKB Accession Codes:

Q9UBU6 B2R725

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11707071

Title: Transduction of the human gene FAM8A1 by endogenous retrovirus during primate evolution.

PubMed ID: 11707071

DOI: 10.1006/geno.2001.6642

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 15144186

Title: Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.

PubMed ID: 15144186

DOI: 10.1021/ac035352d

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 28827405

Title: Conserved cytoplasmic domains promote Hrd1 ubiquitin ligase complex formation for ER-associated degradation (ERAD).

PubMed ID: 28827405

DOI: 10.1242/jcs.206847

Sequence Information:

  • Length: 413
  • Mass: 44123
  • Checksum: 35B92497907CCD2E
  • Sequence:
    • MAEGPEEARG HPPGQDDGGG DHEPVPSLRG PPTTAVPCPR DDPQAEPQAP GRPTAPGLAA 
AAAADKLEPP RELRKRGEAA SGSGAELQEQ AGCEAPEAAA PRERPARLSA REYSRQVHEW 
LWQSYCGYLT WHSGLAAFPA YCSPQPSPQS FPSGGAAVPQ AAAPPPPQLG YYNPFYFLSP 
GAAGPDPRTA AGISTPAPVA GLGPRAPHVQ ASVRATPVTR VGSAAPSRSP SETGRQAGRE 
YVIPSLAHRF MAEMVDFFIL FFIKATIVLS IMHLSGIKDI SKFAMHYIIE EIDEDTSMED 
LQKMMVVALI YRLLVCFYEI ICIWGAGGAT PGKFLLGLRV VTCDTSVLIA PSRVLVIPSS 
NVSITTSTIR ALIKNFSIAS FFPAFITLLF FQHNRTAYDI VAGTIVVKRN GVR

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.