Details for: NPHP1

Gene ID: 4867

Symbol: NPHP1

Ensembl ID: ENSG00000144061

Description: nephrocystin 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: 131.7302
    Cell Significance Index: -20.4900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 79.9548
    Cell Significance Index: -20.2800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 44.5081
    Cell Significance Index: -18.3400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 40.6393
    Cell Significance Index: -16.5100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.0203
    Cell Significance Index: -16.2500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.1976
    Cell Significance Index: -20.5100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9455
    Cell Significance Index: -15.1900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.7209
    Cell Significance Index: -5.9600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.0976
    Cell Significance Index: 51.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.8797
    Cell Significance Index: 118.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2348
    Cell Significance Index: 247.7000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.2168
    Cell Significance Index: 231.5600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.1466
    Cell Significance Index: 18.5000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.0298
    Cell Significance Index: 45.5500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.0230
    Cell Significance Index: 38.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6552
    Cell Significance Index: 357.8400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6432
    Cell Significance Index: 43.2500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4921
    Cell Significance Index: 48.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4762
    Cell Significance Index: 12.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4523
    Cell Significance Index: 34.7100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4342
    Cell Significance Index: 300.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3912
    Cell Significance Index: 353.2000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3414
    Cell Significance Index: 7.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2895
    Cell Significance Index: 15.0400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2832
    Cell Significance Index: 101.5800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2831
    Cell Significance Index: 8.0800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2776
    Cell Significance Index: 45.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2758
    Cell Significance Index: 16.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2539
    Cell Significance Index: 14.2500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1874
    Cell Significance Index: 37.2000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1739
    Cell Significance Index: 2.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1562
    Cell Significance Index: 28.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1526
    Cell Significance Index: 20.9600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1219
    Cell Significance Index: 2.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1126
    Cell Significance Index: 13.8400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0914
    Cell Significance Index: 6.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0747
    Cell Significance Index: 9.5700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0552
    Cell Significance Index: 103.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0547
    Cell Significance Index: 2.4800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0440
    Cell Significance Index: 0.9400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0439
    Cell Significance Index: 0.9500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0432
    Cell Significance Index: 66.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0421
    Cell Significance Index: 77.7300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0362
    Cell Significance Index: 0.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0325
    Cell Significance Index: 20.6700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0305
    Cell Significance Index: 13.4800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0092
    Cell Significance Index: 0.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0091
    Cell Significance Index: 0.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0043
    Cell Significance Index: 1.9400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0040
    Cell Significance Index: 5.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0054
    Cell Significance Index: -3.9300
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: -0.0174
    Cell Significance Index: -0.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0191
    Cell Significance Index: -14.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0198
    Cell Significance Index: -14.6300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0232
    Cell Significance Index: -3.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0264
    Cell Significance Index: -0.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0279
    Cell Significance Index: -15.7300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0363
    Cell Significance Index: -22.6500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0496
    Cell Significance Index: -1.2400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0576
    Cell Significance Index: -3.5300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0599
    Cell Significance Index: -17.2400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0639
    Cell Significance Index: -2.9800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0696
    Cell Significance Index: -7.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0701
    Cell Significance Index: -8.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0706
    Cell Significance Index: -12.0600
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: -0.0818
    Cell Significance Index: -0.8100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0999
    Cell Significance Index: -12.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1010
    Cell Significance Index: -21.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1070
    Cell Significance Index: -2.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1081
    Cell Significance Index: -12.3900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1179
    Cell Significance Index: -8.7900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1275
    Cell Significance Index: -2.9500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1443
    Cell Significance Index: -8.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1524
    Cell Significance Index: -17.9700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1734
    Cell Significance Index: -18.0600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1858
    Cell Significance Index: -5.9500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2008
    Cell Significance Index: -14.2000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2039
    Cell Significance Index: -16.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2290
    Cell Significance Index: -12.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2375
    Cell Significance Index: -8.2500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2384
    Cell Significance Index: -12.4200
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2581
    Cell Significance Index: -3.8100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.2691
    Cell Significance Index: -4.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2701
    Cell Significance Index: -4.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2762
    Cell Significance Index: -12.9800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2806
    Cell Significance Index: -18.1000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2837
    Cell Significance Index: -7.4600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3156
    Cell Significance Index: -10.0500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3348
    Cell Significance Index: -7.3300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3430
    Cell Significance Index: -17.3300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3446
    Cell Significance Index: -4.8300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3561
    Cell Significance Index: -10.4900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3745
    Cell Significance Index: -12.2600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3750
    Cell Significance Index: -7.9600
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.3854
    Cell Significance Index: -3.5400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3982
    Cell Significance Index: -13.9500
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.4387
    Cell Significance Index: -4.7500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4475
    Cell Significance Index: -11.9900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4575
    Cell Significance Index: -9.1900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4616
    Cell Significance Index: -11.0700

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:** The NPHP1 gene is a member of the C9orf37 gene family and is located on chromosome 9q34. The NPHP1 protein is a transmembrane protein with a large N-terminal domain and a C-terminal cytoplasmic domain. The protein is primarily expressed in ciliated cells of the tracheobronchial tree, lung, kidney, and retina. The NPHP1 protein interacts with other proteins, including NPHP2, INPP5D, and CEP290, to regulate cilia assembly and maintenance. **Pathways and Functions:** The NPHP1 protein is involved in several cellular pathways, including: 1. **Actin cytoskeleton organization:** The NPHP1 protein interacts with actin-binding proteins to regulate the organization of the actin cytoskeleton, which is essential for cilia motility and function. 2. **Adherens junction:** The NPHP1 protein is involved in the regulation of adherens junctions, which are critical for cell-cell adhesion and tissue integrity. 3. **Anchoring of the basal body to the plasma membrane:** The NPHP1 protein interacts with other proteins to anchor the basal body to the plasma membrane, which is essential for cilia assembly and maintenance. 4. **Bicellular tight junction:** The NPHP1 protein is involved in the regulation of bicellular tight junctions, which are critical for maintaining tissue integrity and preventing the passage of molecules between adjacent cells. 5. **Cilia assembly and maintenance:** The NPHP1 protein interacts with other proteins to regulate cilia assembly and maintenance, including the regulation of the actin cytoskeleton and the establishment of planar polarity. **Clinical Significance:** Mutations in the NPHP1 gene have been associated with several diseases, including: 1. **Nephronophthisis:** A genetic disorder characterized by progressive kidney damage and failure. 2. **Polycystic kidney disease:** A genetic disorder characterized by the growth of multiple cysts in the kidneys. 3. **Retinitis pigmentosa:** A genetic disorder characterized by progressive vision loss due to degeneration of the retina. 4. **Ciliary dyskinesia:** A condition characterized by impaired cilia motility and function, which can lead to respiratory and other systemic problems. In conclusion, the NPHP1 gene plays a critical role in the regulation of cilia and cell adhesion, and mutations in this gene have been associated with several diseases. Further research is needed to fully understand the mechanisms by which the NPHP1 protein regulates cilia and cell adhesion, and to develop effective treatments for the diseases associated with NPHP1 mutations.

Genular Protein ID: 1306627677

Symbol: NPHP1_HUMAN

Name: Nephrocystin-1

UniProtKB Accession Codes:

O15259 O14837

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 5 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 1 GeneCards 1 GeneReviews 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 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 9361039

Title: A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.

PubMed ID: 9361039

DOI: 10.1093/hmg/6.13.2317

PubMed ID: 9326933

Title: A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

PubMed ID: 9326933

DOI: 10.1038/ng1097-149

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: 9856524

Title: Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

PubMed ID: 9856524

DOI: 10.1016/s0272-6386(98)70083-6

PubMed ID: 12244321

Title: The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

PubMed ID: 12244321

DOI: 10.1038/ng996

PubMed ID: 12872123

Title: Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

PubMed ID: 12872123

DOI: 10.1038/ng1217

PubMed ID: 12872122

Title: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

PubMed ID: 12872122

DOI: 10.1038/ng1216

PubMed ID: 16308564

Title: Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.

PubMed ID: 16308564

DOI: 10.1038/sj.emboj.7600885

PubMed ID: 15138899

Title: The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

PubMed ID: 15138899

DOI: 10.1086/421846

PubMed ID: 16885411

Title: Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.

PubMed ID: 16885411

DOI: 10.1681/asn.2005121351

PubMed ID: 18477472

Title: Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.

PubMed ID: 18477472

DOI: 10.1016/j.bbrc.2008.05.016

PubMed ID: 18633336

Title: Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

PubMed ID: 18633336

DOI: 10.1038/ki.2008.377

PubMed ID: 20856870

Title: Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.

PubMed ID: 20856870

DOI: 10.1371/journal.pone.0012719

PubMed ID: 21565611

Title: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

PubMed ID: 21565611

DOI: 10.1016/j.cell.2011.04.019

PubMed ID: 21357692

Title: Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.

PubMed ID: 21357692

DOI: 10.1074/jbc.m110.165464

PubMed ID: 21633164

Title: Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PubMed ID: 21633164

DOI: 10.1172/jci43639

PubMed ID: 26477546

Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PubMed ID: 26477546

DOI: 10.1016/j.ajhg.2015.09.009

PubMed ID: 15723349

Title: Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.

PubMed ID: 15723349

DOI: 10.1002/prot.20344

PubMed ID: 10839884

Title: Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis.

PubMed ID: 10839884

DOI: 10.1067/mpd.2000.106225

PubMed ID: 24746959

Title: Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

PubMed ID: 24746959

DOI: 10.1016/j.ajhg.2014.03.017

Sequence Information:

  • Length: 732
  • Mass: 83299
  • Checksum: 270125F56F2C50F7
  • Sequence:
    • MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK 
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE 
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL 
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV 
KQRTDPHWSA VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS 
RGRIFLVSKP VLQINTVDVL TTMGAIPAGF RPSTLSQLLE EGNQFRANYF LQPELMPSQL 
AFRDLMWDAT EGTIRSRPSR ISLILTLWSC KMIPLPGMSI QVLSRHVRLC LFDGNKVLSN 
IHTVRATWQP KKPKTWTFSP QVTRILPCLL DGDCFIRSNS ASPDLGILFE LGISYIRNST 
GERGELSCGW VFLKLFDASG VPIPAKTYEL FLNGGTPYEK GIEVDPSISR RAHGSVFYQI 
MTMRRQPQLL VKLRSLNRRS RNVLSLLPET LIGNMCSIHL LIFYRQILGD VLLKDRMSLQ 
STDLISHPML ATFPMLLEQP DVMDALRSSW AGKESTLKRS EKRDKEFLKS TFLLVYHDCV 
LPLLHSTRLP PFRWAEEETE TARWKVITDF LKQNQENQGA LQALLSPDGV HEPFDLSEQT 
YDFLGEMRKN AV

Genular Protein ID: 907165042

Symbol: C9JNM7_HUMAN

Name: N/A

UniProtKB Accession Codes:

C9JNM7

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 2 SMART 1 SMR 1 SUPFAM 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: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15815621

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

PubMed ID: 15815621

DOI: 10.1038/nature03466

Sequence Information:

  • Length: 711
  • Mass: 81041
  • Checksum: A01D5B9A5D2087AD
  • Sequence:
    • MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK 
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE 
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL 
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV 
KQRTDPHWSA VQKAISEINT VDVLTTMGAI PAGFRPSTLS QLLEEGNQFR ANYFLQPELM 
PSQLAFRDLM WDATEGTIRS RPSRISLILT LWSCKMIPLP GMSIQVLSRH VRLCLFDGNK 
VLSNIHTVRA TWQPKKPKTW TFSPQVTRIL PCLLDGDCFI RSNSASPDLG ILFELGISYI 
RNSTGERGEL SCGWVFLKLF DASGVPIPAK TYELFLNGGT PYEKGIEVDP SISRRAHGSV 
FYQIMTMRRQ PQLLVKLRSL NRRSRNVLSL LPETLIGNMC SIHLLIFYRQ ILGDVLLKDR 
MSLQSTDLIS HPMLATFPML LEQPDVMDAL RSSWAGKEST LKRSEKLSKP VSPREGKKKW 
PELYHILKTM HCSCLPCYKI MRDKEFLKST FLLVYHDCVL PLLHSTRLPP FRWAEEETET 
ARWKVITDFL KQNQENQGAL QALLSPDGVH EPFDLSEQTY DFLGEMRKNA V

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.