Details for: HPS1

Gene ID: 3257

Symbol: HPS1

Ensembl ID: ENSG00000107521

Description: HPS1 biogenesis of lysosomal organelles complex 3 subunit 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 105.3070
    Cell Significance Index: -16.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 72.4639
    Cell Significance Index: -18.3800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 61.0205
    Cell Significance Index: -24.7900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 56.1507
    Cell Significance Index: -26.5100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 53.2577
    Cell Significance Index: -27.4000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 39.5777
    Cell Significance Index: -26.5600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.0908
    Cell Significance Index: -24.9100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.9592
    Cell Significance Index: -20.9100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.7570
    Cell Significance Index: -20.7800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.3735
    Cell Significance Index: -25.1500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.1209
    Cell Significance Index: -18.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 5.2957
    Cell Significance Index: -11.5900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9402
    Cell Significance Index: 315.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2094
    Cell Significance Index: 16.5000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.1955
    Cell Significance Index: 35.1100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.0542
    Cell Significance Index: 19.4900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.9403
    Cell Significance Index: 110.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6808
    Cell Significance Index: 31.7400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5669
    Cell Significance Index: 15.4300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5290
    Cell Significance Index: 27.4800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4562
    Cell Significance Index: 56.1000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4471
    Cell Significance Index: 89.6800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4353
    Cell Significance Index: 59.7800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4337
    Cell Significance Index: 78.1900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3967
    Cell Significance Index: 17.9800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3897
    Cell Significance Index: 5.8400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3751
    Cell Significance Index: 48.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3585
    Cell Significance Index: 16.8500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3544
    Cell Significance Index: 35.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3320
    Cell Significance Index: 299.8100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3179
    Cell Significance Index: 9.1600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3152
    Cell Significance Index: 62.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3008
    Cell Significance Index: 8.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2690
    Cell Significance Index: 146.9100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2618
    Cell Significance Index: 19.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2389
    Cell Significance Index: 6.3900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2342
    Cell Significance Index: 15.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2307
    Cell Significance Index: 82.7600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2056
    Cell Significance Index: 90.9100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1833
    Cell Significance Index: 14.0700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1828
    Cell Significance Index: 4.5700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1756
    Cell Significance Index: 33.4200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.1541
    Cell Significance Index: 1.0100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1353
    Cell Significance Index: 3.7800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1298
    Cell Significance Index: 1.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1255
    Cell Significance Index: 4.4100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0720
    Cell Significance Index: 1.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0705
    Cell Significance Index: 9.0400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0702
    Cell Significance Index: 48.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0342
    Cell Significance Index: 2.4200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0304
    Cell Significance Index: 5.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0293
    Cell Significance Index: 55.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0054
    Cell Significance Index: 3.4400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0030
    Cell Significance Index: 5.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0011
    Cell Significance Index: 0.0300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0007
    Cell Significance Index: 0.5000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0002
    Cell Significance Index: 0.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0037
    Cell Significance Index: -0.3800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0116
    Cell Significance Index: -15.7800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0188
    Cell Significance Index: -8.5400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0218
    Cell Significance Index: -16.0100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0223
    Cell Significance Index: -16.5500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0282
    Cell Significance Index: -0.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0328
    Cell Significance Index: -18.4700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0442
    Cell Significance Index: -27.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0651
    Cell Significance Index: -18.7400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0710
    Cell Significance Index: -0.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0859
    Cell Significance Index: -3.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0883
    Cell Significance Index: -10.2900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0899
    Cell Significance Index: -2.8800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0929
    Cell Significance Index: -4.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0994
    Cell Significance Index: -14.4500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1093
    Cell Significance Index: -12.5200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1286
    Cell Significance Index: -27.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1376
    Cell Significance Index: -5.2100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1592
    Cell Significance Index: -3.4500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1875
    Cell Significance Index: -4.7900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1907
    Cell Significance Index: -10.7000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2012
    Cell Significance Index: -13.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2096
    Cell Significance Index: -10.9200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2279
    Cell Significance Index: -23.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2336
    Cell Significance Index: -4.5600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2362
    Cell Significance Index: -11.9300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2488
    Cell Significance Index: -15.2900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2521
    Cell Significance Index: -6.6300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2615
    Cell Significance Index: -3.8600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2813
    Cell Significance Index: -6.5000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3035
    Cell Significance Index: -18.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3065
    Cell Significance Index: -24.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3586
    Cell Significance Index: -10.2800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3957
    Cell Significance Index: -13.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4032
    Cell Significance Index: -25.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5126
    Cell Significance Index: -10.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5254
    Cell Significance Index: -18.4100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5517
    Cell Significance Index: -17.5700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5567
    Cell Significance Index: -14.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5684
    Cell Significance Index: -18.6100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5770
    Cell Significance Index: -21.1800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5987
    Cell Significance Index: -10.2600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6013
    Cell Significance Index: -17.1600

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** HPS1 is a transmembrane protein with a molecular weight of approximately 58 kDa. It is primarily expressed in cells of hematopoietic origin, including blood cells, monocytes, and erythroid progenitor cells. The protein contains a unique structure, featuring multiple transmembrane domains and a cytoplasmic tail. HPS1 interacts with other components of the BLOC-3 complex, including LYST and LYSTL, to regulate the formation and function of lysosomes. **Pathways and Functions** HPS1 is involved in several key cellular pathways, including: 1. **Lysosome biogenesis**: HPS1 plays a crucial role in the formation and maturation of lysosomes by interacting with other BLOC-3 complex components. 2. **Membrane trafficking**: HPS1 is involved in the regulation of membrane trafficking pathways, including vesicle-mediated transport and endocytosis. 3. **Protein degradation**: Lysosomes are essential for protein degradation, and HPS1's role in lysosome biogenesis ensures proper protein degradation. 4. **Cell signaling**: HPS1 may also participate in cell signaling pathways, including response to stimulus and regulation of trafficking. **Clinical Significance** Mutations in the HPS1 gene have been associated with Hermansky-Pudlak syndrome (HPS), a rare genetic disorder characterized by: 1. **Oculocutaneous albinism**: HPS is characterized by reduced melanin production, leading to albinism and vision impairment. 2. **Bleeding disorders**: Defects in lysosome function and platelet dense granule organization can lead to bleeding disorders. 3. **Other systemic abnormalities**: HPS can also cause other systemic abnormalities, including immunodeficiency, neurological disorders, and developmental abnormalities. In summary, HPS1 is a critical component of the BLOC-3 complex, essential for lysosome biogenesis and function. Mutations in the HPS1 gene can lead to Hermansky-Pudlak syndrome, a rare genetic disorder with significant clinical implications. Further research is needed to fully understand the mechanisms of HPS1 and its role in human disease.

Genular Protein ID: 414458902

Symbol: HPS1_HUMAN

Name: Hermansky-Pudlak syndrome 1 protein

UniProtKB Accession Codes:

Q92902 A8MRT2 O15402 O15502 Q5TAA3 Q8WXE5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 20 Ensembl 7 ExpressionAtlas 1 GO 13 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 7 SIGNOR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8896559

Title: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

PubMed ID: 8896559

DOI: 10.1038/ng1196-300

PubMed ID: 9182823

Title: Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.

PubMed ID: 9182823

DOI: 10.1111/1523-1747.ep12294634

PubMed ID: 9579545

Title: Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico.

PubMed ID: 9579545

DOI: 10.1046/j.1523-1747.1998.00183.x

PubMed ID: 10798370

Title: Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

PubMed ID: 10798370

DOI: 10.1007/s004390051053

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 10094567

Title: Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PubMed ID: 10094567

DOI: 10.1002/(sici)1098-1004(1999)13:2<99::aid-humu2>3.0.co;2-c

PubMed ID: 20048159

Title: Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.

PubMed ID: 20048159

DOI: 10.1074/jbc.m109.069088

PubMed ID: 23084991

Title: BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

PubMed ID: 23084991

DOI: 10.1016/j.cub.2012.09.020

PubMed ID: 9497254

Title: Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

PubMed ID: 9497254

DOI: 10.1086/301757

Sequence Information:

  • Length: 700
  • Mass: 79292
  • Checksum: 0885D3E2D64B3248
  • Sequence:
    • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 
FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES 
YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR 
SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA 
IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG 
LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 
LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE 
AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL

Genular Protein ID: 314998261

Symbol: A0A8V8TMQ9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8V8TMQ9

Database IDs:

CTD 1 EMBL 1 Ensembl 2 GO 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 PANTHER 2 PeptideAtlas 2 Pfam 6 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 580
  • Mass: 64760
  • Checksum: EF709B568B4DB3A4
  • Sequence:
    • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
MLEKLSDTYT CFSTENGNFL YVLHLAAAPR PGAACPAVGA LPEPAVDLQP PAGAGAVLRR 
GGDYWARESS GLEAVSHSAS SLRPADLLAL ILLVQDLYPS ESTAEDDIQE TDSFSLPEEY 
FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES 
YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR 
SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA 
IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG 
LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 
LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE 
AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL

Genular Protein ID: 2789724742

Symbol: Q658M9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q658M9

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 InterPro 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 RefSeq 1

Sequence Information:

  • Length: 338
  • Mass: 38870
  • Checksum: 4EB05E84C68F929B
  • Sequence:
    • RTRGANVKES YCPLVPHTMY CLPLWQGINL VLLTRLMDGF SMLEKKLKEG PEPGASLRSQ 
PLVGDLRQRM DKFVKNRGAQ EIQSTWLEFK AKAFSKSEPG SSWELLQACG KLKRQLCAIY 
RLNFLTTAPS RGGPHLPQHL QDQVQRLMRE KLTDWKDFLL VKSRRNITMV SYLEDFPGLV 
HFIYVDRTTG QMVAPSLNCS QKTSSELGKG PLAAFVKTKV WSLIQLARRY LQKGYTTLLF 
QEGDFYCSYF LWFENDMGYK LQMIEVPVLS DDSVPIGMLG GDYYRKLLRY YSKNRPTEAV 
RCYELLALHL SVIPTDLLVQ QAGQLARRLW EASRIPLL

Genular Protein ID: 3874902048

Symbol: H0Y4K4_HUMAN

Name: N/A

UniProtKB Accession Codes:

H0Y4K4 A0A0S2Z3U1

Database IDs:

Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 4 GO 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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: 291
  • Mass: 33061
  • Checksum: 27DAAC66A72E9882
  • Sequence:
    • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
VQDLYPSEST AEDDIQETDS FSLPEEYFTP APSPGDQSSG EDRRKAGGNN S

Genular Protein ID: 2264334827

Symbol: A0A8V8TN94_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A8V8TN94

Database IDs:

CTD 1 EMBL 1 Ensembl 2 GO 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 PANTHER 2 PeptideAtlas 2 Pfam 6 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 613
  • Mass: 68175
  • Checksum: 5208D2F7523C2BCB
  • Sequence:
    • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
MLEKLSDTYT CFSTENGNFL YVLHLAAAPR PGAACPAVGA LPEPAVDLQP PAGAGAVLRR 
GGDYWARESS GLEAVSHSAS SLRPADLLAL ILLVQDLYPS ESTAEDDIQP SPRRARSSQN 
IPVQQAWSPH STGPTGGSSA ETETDSFSLP EEYFTPAPSP GDQSSGSTIW LEGGTPPMDA 
LQIAEDTLQT LVPHCPVPSG PRRIFLDANV KESYCPLVPH TMYCLPLWQG INLVLLTRSP 
SAPLALVLSQ LMDGFSMLEK KLKEGPEPGA SLRSQPLVGD LRQRMDKFVK NRGAQEIQST 
WLEFKAKAFS KSEPGSSWEL LQACGKLKRQ LCAIYRLNFL TTAPSRGGPH LPQHLQDQVQ 
RLMREKLTDW KDFLLVKSRR NITMVSYLED FPGLVHFIYV DRTTGQMVAP SLNCSQKTSS 
ELGKGPLAAF VKTKVWSLIQ LARRYLQKGY TTLLFQEGDF YCSYFLWFEN DMGYKLQMIE 
VPVLSDDSVP IGMLGGDYYR KLLRYYSKNR PTEAVRCYEL LALHLSVIPT DLLVQQAGQL 
ARRLWEASRI PLL

Genular Protein ID: 1936276520

Symbol: A0A0S2Z3U9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3U9

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 4 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 4 RefSeq 1 SAM 1 VEuPathDB 1

Citations:

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: 324
  • Mass: 36476
  • Checksum: 02E16B04FDEB3E6A
  • Sequence:
    • MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 
MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 
GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 
ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 
VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 
FTPAPSPGDQ SSGEDRRKAG GNNS

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.