Details for: SLC3A1

Gene ID: 6519

Symbol: SLC3A1

Ensembl ID: ENSG00000138079

Description: solute carrier family 3 member 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: 54.2286
    Cell Significance Index: -8.4400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 33.1962
    Cell Significance Index: -8.4200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.8413
    Cell Significance Index: -8.4400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.1325
    Cell Significance Index: 33.0000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 3.6983
    Cell Significance Index: 703.8100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.5309
    Cell Significance Index: 90.7600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.4399
    Cell Significance Index: -9.2200
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 3.1116
    Cell Significance Index: 23.6000
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 2.9616
    Cell Significance Index: 11.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.7973
    Cell Significance Index: 177.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.5855
    Cell Significance Index: -3.4700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.5612
    Cell Significance Index: 1409.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.5512
    Cell Significance Index: 168.7200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.3725
    Cell Significance Index: 43.4100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9609
    Cell Significance Index: 27.6900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8833
    Cell Significance Index: 61.0900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6840
    Cell Significance Index: 42.0400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.6784
    Cell Significance Index: 16.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.6679
    Cell Significance Index: 14.4700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.6390
    Cell Significance Index: 10.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5836
    Cell Significance Index: 12.4300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.5717
    Cell Significance Index: 9.4200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.4551
    Cell Significance Index: 11.1100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.4268
    Cell Significance Index: 16.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.4167
    Cell Significance Index: 18.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3864
    Cell Significance Index: 77.5200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3203
    Cell Significance Index: 4.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3115
    Cell Significance Index: 14.1200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3086
    Cell Significance Index: 5.1900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2952
    Cell Significance Index: 7.3800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.2819
    Cell Significance Index: 32.3000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2807
    Cell Significance Index: 4.0200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.2485
    Cell Significance Index: 4.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2475
    Cell Significance Index: 19.0000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.2388
    Cell Significance Index: 2.0300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2380
    Cell Significance Index: 174.5200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2162
    Cell Significance Index: 42.9100
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.2132
    Cell Significance Index: 3.4400
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 0.1992
    Cell Significance Index: 2.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1944
    Cell Significance Index: 69.7300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1499
    Cell Significance Index: 103.6700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.1391
    Cell Significance Index: 1.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1092
    Cell Significance Index: 1.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1052
    Cell Significance Index: 3.3700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1050
    Cell Significance Index: 6.6200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0959
    Cell Significance Index: 5.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0896
    Cell Significance Index: 16.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0739
    Cell Significance Index: 8.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0592
    Cell Significance Index: 4.6900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0591
    Cell Significance Index: 36.9100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0497
    Cell Significance Index: 0.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0419
    Cell Significance Index: 2.3500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0379
    Cell Significance Index: 1.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0368
    Cell Significance Index: 50.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0344
    Cell Significance Index: 18.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0312
    Cell Significance Index: 48.0900
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0282
    Cell Significance Index: 0.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0267
    Cell Significance Index: 49.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0249
    Cell Significance Index: 4.2500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0199
    Cell Significance Index: 0.7000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0153
    Cell Significance Index: 28.8400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0146
    Cell Significance Index: 0.3200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0064
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0017
    Cell Significance Index: -1.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0017
    Cell Significance Index: -0.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0042
    Cell Significance Index: -2.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0063
    Cell Significance Index: -0.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0076
    Cell Significance Index: -0.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0110
    Cell Significance Index: -6.9800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0119
    Cell Significance Index: -8.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0130
    Cell Significance Index: -5.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0163
    Cell Significance Index: -4.6900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0171
    Cell Significance Index: -3.6100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0188
    Cell Significance Index: -0.2700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0200
    Cell Significance Index: -0.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0223
    Cell Significance Index: -1.5000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0238
    Cell Significance Index: -3.4600
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: -0.0249
    Cell Significance Index: -0.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0263
    Cell Significance Index: -3.2300
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: -0.0334
    Cell Significance Index: -0.2700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0344
    Cell Significance Index: -0.7300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0362
    Cell Significance Index: -0.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0375
    Cell Significance Index: -1.7500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0393
    Cell Significance Index: -0.8500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0477
    Cell Significance Index: -5.4400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0507
    Cell Significance Index: -0.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0642
    Cell Significance Index: -4.5400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0646
    Cell Significance Index: -0.7700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0648
    Cell Significance Index: -3.9700
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.0680
    Cell Significance Index: -0.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0704
    Cell Significance Index: -9.0900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0707
    Cell Significance Index: -1.4200
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0721
    Cell Significance Index: -0.6500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0747
    Cell Significance Index: -7.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0818
    Cell Significance Index: -9.6500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0898
    Cell Significance Index: -2.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0933
    Cell Significance Index: -2.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0946
    Cell Significance Index: -4.9200
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.0961
    Cell Significance Index: -1.2100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0967
    Cell Significance Index: -2.5900

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:** SLC3A1 is a transmembrane protein that forms a heterodimer with SLC7A9 to create a functional amino acid transporter. This transporter is responsible for the uptake of basic amino acids, such as cystine, lysine, and arginine, from the bloodstream into the epithelial cells of the proximal tubule, loop of Henle, and distal convoluted tubule in the kidneys. SLC3A1 is also expressed in other epithelial tissues, including the pancreatic ductal cells, enterocytes of the colon, and granulocyte monocyte progenitor cells. **Pathways and Functions:** SLC3A1 is involved in several key pathways, including: 1. Amino acid transmembrane transport: SLC3A1 forms a heterodimer with SLC7A9 to transport basic amino acids across the plasma membrane. 2. Amino acid transport: SLC3A1 plays a crucial role in the uptake of amino acids from the bloodstream into epithelial cells. 3. L-cystine transmembrane transport: SLC3A1 is responsible for the transport of cystine across epithelial membranes. 4. Protein-containing complex binding: SLC3A1 interacts with other proteins to form complexes that regulate amino acid transport. **Clinical Significance:** Dysfunction of SLC3A1 has been linked to several diseases, including: 1. Cystinuria: A genetic disorder characterized by the excessive excretion of cystine and other amino acids. 2. Disorders of transmembrane transporters: SLC3A1 dysfunction can lead to impaired amino acid transport, resulting in various metabolic disorders. 3. Kidney disease: Impaired amino acid transport in the kidneys can contribute to the development of kidney disease. In conclusion, SLC3A1 is a critical gene involved in amino acid transport and disease pathogenesis. Its dysfunction can lead to various metabolic disorders, including cystinuria. Further research is needed to fully understand the complexities of SLC3A1 and its role in human disease. **Clinical Implications:** Understanding the role of SLC3A1 in amino acid transport can have significant clinical implications, including: 1. Diagnostics: Genetic testing for SLC3A1 mutations can aid in the diagnosis of cystinuria and other disorders of transmembrane transporters. 2. Therapy: Targeting SLC3A1 with small molecule inhibitors or gene therapy may provide a new approach to treating cystinuria and other related diseases. 3. Prevention: Identifying individuals with SLC3A1 mutations can help prevent the development of kidney disease and other metabolic disorders. In summary, SLC3A1 is a vital gene involved in amino acid transport and disease pathogenesis. Further research is needed to fully understand its role in human disease and to develop effective therapeutic strategies.

Genular Protein ID: 1302861275

Symbol: SLC31_HUMAN

Name: Amino acid transporter heavy chain SLC3A1

UniProtKB Accession Codes:

Q07837 A8K0S1 O00658 Q15295 Q4J6B4 Q4J6B5 Q4J6B6 Q4J6B7 Q4J6B8 Q4J6B9 Q52M92 Q52M94

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CTD 1 ChEBI 5 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 25 EMDB 4 Ensembl 6 ExpressionAtlas 1 GO 18 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 3 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8486766

Title: Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.

PubMed ID: 8486766

DOI: 10.1172/jci116415

PubMed ID: 7686906

Title: Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes.

PubMed ID: 7686906

DOI: 10.1016/s0021-9258(18)82410-3

PubMed ID: 8663184

Title: Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes.

PubMed ID: 8663184

DOI: 10.1074/jbc.271.28.16758

PubMed ID: 9186880

Title: Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

PubMed ID: 9186880

DOI: 10.1038/ki.1997.258

PubMed ID: 11318953

Title: Human cystinuria-related transporter: localization and functional characterization.

PubMed ID: 11318953

DOI: 10.1046/j.1523-1755.2001.0590051821.x

PubMed ID: 15913950

Title: The 2p21 deletion syndrome: characterization of the transcription content.

PubMed ID: 15913950

DOI: 10.1016/j.ygeno.2005.04.001

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: 8663357

Title: Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.

PubMed ID: 8663357

DOI: 10.1074/jbc.271.30.17761

PubMed ID: 16825196

Title: The structural and functional units of heteromeric amino acid transporters. The heavy subunit rBAT dictates oligomerization of the heteromeric amino acid transporters.

PubMed ID: 16825196

DOI: 10.1074/jbc.m604049200

PubMed ID: 10588648

Title: Luminal heterodimeric amino acid transporter defective in cystinuria.

PubMed ID: 10588648

DOI: 10.1091/mbc.10.12.4135

PubMed ID: 7568194

Title: Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

PubMed ID: 7568194

DOI: 10.1073/pnas.92.21.9667

PubMed ID: 12167606

Title: rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

PubMed ID: 12167606

DOI: 10.1152/ajprenal.00071.2002

PubMed ID: 32817565

Title: Structural basis for amino acid exchange by a human heteromeric amino acid transporter.

PubMed ID: 32817565

DOI: 10.1073/pnas.2008111117

PubMed ID: 32494597

Title: Cryo-EM structure of the human heteromeric amino acid transporter b0,+AT-rBAT.

PubMed ID: 32494597

DOI: 10.1126/sciadv.aay6379

PubMed ID: 16385448

Title: Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

PubMed ID: 16385448

DOI: 10.1086/498852

PubMed ID: 21686663

Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

PubMed ID: 21686663

DOI: 10.1136/bcr.08.2008.0719

PubMed ID: 8054986

Title: Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

PubMed ID: 8054986

DOI: 10.1038/ng0494-420

PubMed ID: 7539209

Title: Mutations in the SLC3A1 transporter gene in cystinuria.

PubMed ID: 7539209

PubMed ID: 7573036

Title: Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

PubMed ID: 7573036

PubMed ID: 7575432

Title: Mutations of the basic amino acid transporter gene associated with cystinuria.

PubMed ID: 7575432

DOI: 10.1042/bj3100951

PubMed ID: 10738006

Title: Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics.

PubMed ID: 10738006

DOI: 10.1002/(sici)1098-1004(200004)15:4<390::aid-humu33>3.0.co;2-k

PubMed ID: 11748844

Title: Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.

PubMed ID: 11748844

DOI: 10.1002/humu.1228

PubMed ID: 12234283

Title: Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.

PubMed ID: 12234283

DOI: 10.1111/j.1523-1755.2002.kid552.x

PubMed ID: 16138908

Title: Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

PubMed ID: 16138908

DOI: 10.1111/j.1529-8817.2005.00185.x

PubMed ID: 15635077

Title: New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

PubMed ID: 15635077

DOI: 10.1136/jmg.2004.022244

PubMed ID: 16609684

Title: A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

PubMed ID: 16609684

DOI: 10.1038/sj.ki.5000241

PubMed ID: 19782624

Title: Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

PubMed ID: 19782624

DOI: 10.1016/j.ymgme.2009.09.001

Sequence Information:

  • Length: 685
  • Mass: 78852
  • Checksum: F9D6DFD548283899
  • Sequence:
    • MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG ILGSQEPDFK 
GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL IAATIAIIAL SPKCLDWWQE 
GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD YITALNIKTV WITSFYKSSL KDFRYGVEDF 
REVDPIFGTM EDFENLVAAI HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH 
DCTHENGKTI PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL 
RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF TTTQVGMHDI 
VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP FIQEADFPFN NYLSMLDTVS 
GNSVYEVITS WMENMPEGKW PNWMIGGPDS SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY 
GEEIGMGNIV AANLNESYDI NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDV 
QKTQPRSALK LYQDLSLLHA NELLLNRGWF CHLRNDSHYV VYTRELDGID RIFIVVLNFG 
ESTLLNLHNM ISGLPAKMRI RLSTNSADKG SKVDTSGIFL DKGEGLIFEH NTKNLLHRQT 
AFRDRCFVSN RACYSSVLNI LYTSC

Genular Protein ID: 376775367

Symbol: B8ZZK1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B8ZZK1

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 2 Gene3D 1 GeneTree 1 HGNC 1 InterPro 3 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 2 SMART 2 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: 564
  • Mass: 64959
  • Checksum: A040E70DBE809F66
  • Sequence:
    • MAEDKSKRDS IEMSMKGCQT NNGFVHNEDI LEQTPDPGSS TDNLKHSTRG ILGSQEPDFK 
GVQPYAGMPK EVLFQFSGQA RYRIPREILF WLTVASVLVL IAATIAIIAL SPKCLDWWQE 
GPMYQIYPRS FKDSNKDGNG DLKGIQDKLD YITALNIKTV WITSFYKSSL KDFRYGVEDF 
REVDPIFGTM EDFENLVAAI HDKGLKLIID FIPNHTSDKH IWFQLSRTRT GKYTDYYIWH 
DCTHENGKTI PPNNWLSVYG NSSWHFDEVR NQCYFHQFMK EQPDLNFRNP DVQEEIKEIL 
RFWLTKGVDG FSLDAVKFLL EAKHLRDEIQ VNKTQIPDTV TQYSELYHDF TTTQVGMHDI 
VRSFRQTMDQ YSTEPGRYRF MGTEAYAESI DRTVMYYGLP FIQEADFPFN NYLSMLDTVS 
GNSVYEVITS WMENMPEGKW PNWMIGGPDS SRLTSRLGNQ YVNVMNMLLF TLPGTPITYY 
GEEIGMGNIV AANLNESYDI NTLRSKSPMQ WDNSSNAGFS EASNTWLPTN SDYHTVNVDS 
CSVTHARVQW RDLGTLQPLL PGFK

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.