Details for: SLC37A4

Gene ID: 2542

Symbol: SLC37A4

Ensembl ID: ENSG00000137700

Description: solute carrier family 37 member 4

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 43.0920
    Cell Significance Index: -10.9300
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 36.5810
    Cell Significance Index: -5.6900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 33.7057
    Cell Significance Index: -13.8900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.3656
    Cell Significance Index: -11.9300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.5688
    Cell Significance Index: -12.0000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.2234
    Cell Significance Index: -12.6100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.3941
    Cell Significance Index: -14.4500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 4.4691
    Cell Significance Index: 35.6800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.3882
    Cell Significance Index: -13.3700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.6491
    Cell Significance Index: 39.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.4851
    Cell Significance Index: 42.7900
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 1.1749
    Cell Significance Index: 4.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.1525
    Cell Significance Index: 52.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.1516
    Cell Significance Index: 24.9500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0418
    Cell Significance Index: -2.2800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9806
    Cell Significance Index: 67.8200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7600
    Cell Significance Index: 686.2500
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.6061
    Cell Significance Index: 10.2100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5547
    Cell Significance Index: 14.5900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.5014
    Cell Significance Index: 17.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.4889
    Cell Significance Index: 15.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4695
    Cell Significance Index: 10.0000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4411
    Cell Significance Index: 6.6100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4088
    Cell Significance Index: 81.1200
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3870
    Cell Significance Index: 8.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3543
    Cell Significance Index: 18.4100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.3466
    Cell Significance Index: 5.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.3416
    Cell Significance Index: 4.6600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3226
    Cell Significance Index: 15.0400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3002
    Cell Significance Index: 48.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2932
    Cell Significance Index: 160.1300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.2328
    Cell Significance Index: 3.9200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.1989
    Cell Significance Index: 5.0800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1715
    Cell Significance Index: 21.9900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1633
    Cell Significance Index: 32.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1615
    Cell Significance Index: 29.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1572
    Cell Significance Index: 8.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1568
    Cell Significance Index: 19.2900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1460
    Cell Significance Index: 4.0800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1334
    Cell Significance Index: 3.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1330
    Cell Significance Index: 22.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1297
    Cell Significance Index: 6.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1206
    Cell Significance Index: 16.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1047
    Cell Significance Index: 6.6000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.1030
    Cell Significance Index: 1.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1029
    Cell Significance Index: 6.1800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0878
    Cell Significance Index: 38.8100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0831
    Cell Significance Index: 8.2200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0801
    Cell Significance Index: 15.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0535
    Cell Significance Index: 36.9700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0435
    Cell Significance Index: 15.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0381
    Cell Significance Index: 1.3400
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.0307
    Cell Significance Index: 0.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0270
    Cell Significance Index: 3.4900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0164
    Cell Significance Index: 0.1700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0147
    Cell Significance Index: 27.6700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0137
    Cell Significance Index: 0.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0056
    Cell Significance Index: 0.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0048
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0006
    Cell Significance Index: -0.4200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0035
    Cell Significance Index: -2.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0041
    Cell Significance Index: -0.1100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0046
    Cell Significance Index: -0.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0049
    Cell Significance Index: -9.1100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0062
    Cell Significance Index: -0.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0063
    Cell Significance Index: -4.7900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0064
    Cell Significance Index: -0.6500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0064
    Cell Significance Index: -8.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0081
    Cell Significance Index: -5.0600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0081
    Cell Significance Index: -12.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0117
    Cell Significance Index: -6.6100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0121
    Cell Significance Index: -7.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0135
    Cell Significance Index: -1.5500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0230
    Cell Significance Index: -10.4400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0277
    Cell Significance Index: -5.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0293
    Cell Significance Index: -4.2600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0338
    Cell Significance Index: -0.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0365
    Cell Significance Index: -2.0500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0379
    Cell Significance Index: -4.3300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0401
    Cell Significance Index: -0.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0482
    Cell Significance Index: -13.8700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0578
    Cell Significance Index: -2.3700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0600
    Cell Significance Index: -2.8200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0600
    Cell Significance Index: -4.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0755
    Cell Significance Index: -8.8000
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0830
    Cell Significance Index: -1.2600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0994
    Cell Significance Index: -0.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1075
    Cell Significance Index: -11.1900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1201
    Cell Significance Index: -1.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1324
    Cell Significance Index: -10.4900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1335
    Cell Significance Index: -8.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1345
    Cell Significance Index: -3.9500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1514
    Cell Significance Index: -4.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1517
    Cell Significance Index: -11.6400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1631
    Cell Significance Index: -1.3300
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.1655
    Cell Significance Index: -2.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1689
    Cell Significance Index: -1.5600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.1781
    Cell Significance Index: -2.5300
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.1794
    Cell Significance Index: -1.3800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1818
    Cell Significance Index: -4.4400

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:** 1. **Glucose Transporter Function**: SLC37A4, also known as Glucose-6-phosphate transporter (G6PT1_HUMAN), plays a pivotal role in transporting glucose-6-phosphate across cell membranes, facilitating glucose metabolism in various tissues. 2. **Tissue-Specific Expression**: This gene is highly expressed in enterocytes, pancreatic ductal cells, kidney cells, and erythroid progenitor cells, highlighting its importance in glucose metabolism and energy production. 3. **Gluconeogenesis Regulation**: SLC37A4 is involved in regulating gluconeogenesis, a metabolic pathway that generates glucose from non-carbohydrate sources, such as amino acids and lactate. 4. **Protein Binding**: The SLC37A4 protein interacts with other proteins, including glucose-6-phosphatase, to regulate glucose metabolism and transport. **Pathways and Functions:** 1. **Carbohydrate Transport**: SLC37A4 is involved in transporting glucose-6-phosphate across cell membranes, facilitating glucose metabolism in various tissues. 2. **Endoplasmic Reticulum**: This gene is localized to the endoplasmic reticulum, a critical organelle involved in protein folding, lipid synthesis, and calcium storage. 3. **Gluconeogenesis**: SLC37A4 regulates gluconeogenesis by controlling the transport of glucose-6-phosphate across cell membranes, influencing the production of glucose from non-carbohydrate sources. 4. **Glucose Metabolic Process**: This gene is involved in regulating glucose metabolism, including glycolysis, gluconeogenesis, and glycogen synthesis. **Clinical Significance:** 1. **Diabetes and Metabolic Disorders**: Alterations in SLC37A4 expression have been linked to various metabolic disorders, including type 2 diabetes, insulin resistance, and obesity. 2. **Gastrointestinal Diseases**: SLC37A4 is involved in regulating glucose metabolism in the enterocytes, making it a potential target for the treatment of gastrointestinal diseases, such as celiac disease and Crohn's disease. 3. **Hematological Disorders**: This gene is expressed in erythroid progenitor cells, highlighting its potential role in the development of anemia and other hematological disorders. 4. **Cancer**: SLC37A4 has been implicated in cancer development and progression, particularly in colon and pancreatic cancers, where it regulates glucose metabolism and energy production. In conclusion, SLC37A4 plays a critical role in glucose metabolism, regulating gluconeogenesis, and influencing the development of various diseases. Further research is needed to fully elucidate the mechanisms underlying SLC37A4 function and its clinical significance.

Genular Protein ID: 4253170008

Symbol: G6PT1_HUMAN

Name: Glucose-5-phosphate transporter

UniProtKB Accession Codes:

O43826 O96016 Q5J7V4 Q9UI19 Q9UNS4

Database IDs:

AGR 1 AlphaFoldDB 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CDD 1 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 17 Ensembl 5 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 5 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9428641

Title: Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

PubMed ID: 9428641

DOI: 10.1016/s0014-5793(97)01463-4

PubMed ID: 9856496

Title: Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

PubMed ID: 9856496

DOI: 10.1007/s004390050856

PubMed ID: 10026167

Title: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

PubMed ID: 10026167

DOI: 10.1074/jbc.274.9.5532

PubMed ID: 10023055

Title: Structure of the gene mutated in glycogen storage disease type Ib.

PubMed ID: 10023055

DOI: 10.1016/s0378-1119(98)00614-3

PubMed ID: 10323254

Title: Molecular diagnosis of type 1c glycogen storage disease.

PubMed ID: 10323254

DOI: 10.1007/s004390050948

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: 21949678

Title: SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters.

PubMed ID: 21949678

DOI: 10.1371/journal.pone.0023157

PubMed ID: 11949931

Title: Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

PubMed ID: 11949931

DOI: 10.2174/1566524024605798

PubMed ID: 9758626

Title: A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PubMed ID: 9758626

DOI: 10.1086/302068

PubMed ID: 9781688

Title: Structure and mutation analysis of the glycogen storage disease type 1b gene.

PubMed ID: 9781688

DOI: 10.1016/s0014-5793(98)01129-6

PubMed ID: 10482962

Title: The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PubMed ID: 10482962

DOI: 10.1038/sj.ejhg.5200366

PubMed ID: 10518030

Title: Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PubMed ID: 10518030

DOI: 10.1016/s0014-5793(99)01248-x

PubMed ID: 9675154

Title: Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

PubMed ID: 9675154

DOI: 10.1006/bbrc.1998.8985

PubMed ID: 10482875

Title: Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PubMed ID: 10482875

DOI: 10.1002/(sici)1096-8628(19990917)86:3<253::aid-ajmg11>3.0.co;2-7

PubMed ID: 11071391

Title: Mutation analysis in glycogen storage disease type 1 non-a.

PubMed ID: 11071391

DOI: 10.1007/s004390000371

PubMed ID: 10874322

Title: A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PubMed ID: 10874322

DOI: 10.1002/1098-1004(200007)16:1<94::aid-humu26>3.0.co;2-q

PubMed ID: 10923042

Title: Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PubMed ID: 10923042

DOI: 10.1002/1098-1004(200008)16:2<177::aid-humu13>3.0.co;2-8

PubMed ID: 10931421

Title: Glycogen storage disease type Ib without neutropenia.

PubMed ID: 10931421

DOI: 10.1067/mpd.2000.107472

PubMed ID: 12409273

Title: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PubMed ID: 12409273

DOI: 10.1016/s1096-7192(02)00110-5

PubMed ID: 15669677

Title: Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

PubMed ID: 15669677

DOI: 10.1023/b:boli.0000042987.43395.c6

PubMed ID: 15059622

Title: Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PubMed ID: 15059622

DOI: 10.1016/j.ymgme.2003.12.004

PubMed ID: 15953877

Title: A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PubMed ID: 15953877

DOI: 10.3346/jkms.2005.20.3.499

PubMed ID: 19579760

Title: Glycogen storage disease type Ib: the first case in Taiwan.

PubMed ID: 19579760

DOI: 10.1016/s1875-9572(09)60048-6

PubMed ID: 21629566

Title: A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

PubMed ID: 21629566

DOI: 10.4172/1747-0862.1000046

PubMed ID: 32884905

Title: SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.

PubMed ID: 32884905

DOI: 10.1016/j.ymgmr.2020.100636

PubMed ID: 33964207

Title: A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

PubMed ID: 33964207

DOI: 10.1016/j.ajhg.2021.04.013

PubMed ID: 33728255

Title: SLC37A4-CDG: Second patient.

PubMed ID: 33728255

DOI: 10.1002/jmd2.12195

Sequence Information:

  • Length: 429
  • Mass: 46360
  • Checksum: C0399332FE72694B
  • Sequence:
    • MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG FITSSQSAAY 
AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV PVFAALWFLN GLAQGLGWPP 
CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG LGPILATILA QSYSWRSTLA LSGALCVVVS 
FLCLLLIHNE PADVGLRNLD PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK 
TCCTDWGQFF LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR 
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG VIANESAPPN 
LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA EVICAASTAA FFLLRNIRTK 
MGRVSKKAE

Genular Protein ID: 3878422

Symbol: A8K0S7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K0S7

Database IDs:

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

Sequence Information:

  • Length: 428
  • Mass: 46273
  • Checksum: D7B6136B0FDB521F
  • Sequence:
    • MAAQGYGYYR TVIFSAMFGG YSLYYFNRKT FSFVMPSLVE EIPLDKDDLG FITSSQSAAY 
AISKFVSGVL SDQMSARWLF SSGLLLVGLV NIFFAWSSTV PVFAALWFLN GLAQGLGWPP 
CGKVLRKWFE PSQFGTWWAI LSTSMNLAGG LGPILATILA QSYSWRSTLA LSGALCVVVS 
FLCLLLIHNE PADVGLRNLD PMPSEGKKGS LKEESTLQEL LLSPYLWVLS TGYLVVFGVK 
TCCTDWGQFF LIQEKGQSAL VGSSYMSALE VGGLVGSIAA GYLSDRAMAK AGLSNYGNPR 
HGLLLFMMAG MTVSMYLFRV TVTSDSPKLW ILVLGAVFGF SSYGPIALFG VIANESAPPN 
LCGTSHAIVG LMANVGGFLA GLPFSTIAKH YSWSTAFWVA EVICAATAAF FLLRNIRTKM 
GRVSKKAE

Genular Protein ID: 1979311634

Symbol: B4DUH2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DUH2

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 GO 2 Gene3D 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PROSITE 3 PeptideAtlas 2 Pfam 1 PharmGKB 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SUPFAM 1

Sequence Information:

  • Length: 356
  • Mass: 38229
  • Checksum: F8709A95C038C872
  • Sequence:
    • MSARWLFSSG LLLVGLVNIF FAWSSTVPVF AALWFLNGLA QGLGWPPCGK VLRKWFEPSQ 
FGTWWAILST SMNLAGGLGP ILATILAQSY SWRSTLALSG ALCVVVSFLC LLLIHNEPAD 
VGLRNLDPMP SEGKKGSLKE ESTLQELLLS PYLWVLSTGY LVVFGVKTCC TDWGQFFLIQ 
EKGQSALVGS SYMSALEVGG LVGSIAAGYL SDRAMAKAGL SNYGNPRHGL LLFMMAGMTV 
SMYLFRVTVT SDSPKLWILV LGAVFGFSSY GPIALFGVIA NESAPPNLCG TSHAIVGLMA 
NVGGFLAGLP FSTIAKHYSW STAFWVAEVI CAASTAAFFL LRNIRTKMGR VSKKAE

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.