Genes on human chromosome 21

human chromosome

class of enzymes

group of peptides, several of which can form oligomeric cation-selective peptide channels

Enteropeptidase (also called enterokinase) is an enzyme produced by cells of the duodenum and is involved in digestion in humans and other animals. Enteropeptidase converts trypsinogen (a zymogen) into its active form trypsin, resulting in the subsequent activation of digestive enzymes from the pancreas. Absence of enteropeptidase results in intestinal digestion impairment.

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Transmembrane protease, serine 2 is an enzyme that in humans is encoded by the TMPRSS2 gene. It belongs to the TMPRSS family of proteins, whose members are transmembrane proteins which have a serine protease activity. The TMPRSS2 protein is found in high concentration in the cell membranes of epithelial cells of the lung and of the prostate, but also in the heart, liver and gastrointestinal tract.

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.

Oligodendrocyte transcription factor (OLIG2) is a basic helix-loop-helix (bHLH) transcription factor encoded by the OLIG2 gene. The protein is of 329 amino acids in length, 32 kDa in size and contains one basic helix-loop-helix DNA-binding domain. It is one of the three members of the bHLH family. The other two members are OLIG1 and OLIG3. The expression of OLIG2 is mostly restricted in central nervous system, where it acts as both an anti-neurigenic and a neurigenic factor at different stages of development. OLIG2 is well known for determining motor neuron and oligodendrocyte differentiation,

mammalian protein found in Homo sapiens

DNA (cytosine-5)-methyltransferase 3-like is an enzyme that in humans is encoded by the DNMT3L gene.

family of lipid-gated inward-rectifier potassium ion channels

Chloride intracellular channel protein 6 is a protein that in humans is encoded by the CLIC6 gene.

mammalian protein found in Homo sapiens

Potassium voltage-gated channel subfamily E member 1 is a protein that in humans is encoded by the KCNE1 gene.

T-complex protein 1 subunit theta is a protein that in humans is encoded by the CCT8 gene. The CCT8 protein is a component of the TRiC complex.

GC-rich sequence DNA-binding factor homolog is a protein that in humans is encoded by the PAXBP1 gene.

protein-coding gene in the species Homo sapiens

6-phosphofructokinase, liver type (PFKL) is an enzyme that in humans is encoded by the PFKL gene on chromosome 21. This gene encodes the liver (L) isoform of phosphofructokinase-1, an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

PBX/Knotted 1 Homeobox 1 (PKNOX1) is a protein that in humans is encoded by the PKNOX1 gene.

Ribosomal RNA processing protein 1 homolog A is a protein that in humans is encoded by the RRP1 gene.

GA-binding protein alpha chain is a protein that in humans is encoded by the GABPA gene.

Chromatin assembly factor 1 subunit B is a protein that in humans is encoded by the CHAF1B gene.

Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) and it is a protein that is encoded by the RUNX1 gene, in humans.

Nuclear receptor-interacting protein 1 (NRIP1) also known as receptor-interacting protein 140 (RIP140) is a protein that in humans is encoded by the NRIP1 gene.

ETS2 is a gene that in humans is encoding the C-ETS2 protein. The protein encoded by this gene belongs to the ETS family of transcription factors. It has been found to play a key role in the development of inflammatory bowel disease.

RWD domain-containing protein 2B is a protein that in humans is encoded by the RWDD2B gene.

Protein Mis18-alpha is a protein that in humans is encoded by the MIS18A gene.

protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily C member 28 is a protein that in humans is encoded by the DNAJC28 gene. It's a member of chaperone DnaJ family. The family is also known as Hsp40 (heat shock protein 40 kDa).

Glutamine amidotransferase-like class 1 domain-containing protein 3A, mitochondrial is a protein that in humans is encoded by the GATD3 gene.

Small ubiquitin-related modifier 3 is a protein that in humans is encoded by the SUMO3 gene.

mammalian protein found in Homo sapiens

Tetratricopeptide repeat protein 3 is a protein that in humans is encoded by the TTC3 gene.

Transcription regulator protein BACH1 is a protein that in humans is encoded by the BACH1 gene.

S100 calcium-binding protein B (S100B) is a protein of the S100 protein family.

Disco-interacting protein 2 homolog A is a protein that in humans is encoded by the DIP2A gene.

Chondrolectin is a protein that in humans is encoded by the CHODL gene. Mouse chondrolectin is encoded by Chodl.

ATP synthase peripheral stalk subunit OSCP, mitochondrial is an enzyme that in humans is encoded by the ATP5PO gene.

Claudin-14 is a protein that in humans is encoded by the CLDN14 gene. It belongs to a related family of proteins called claudins.

Cysteine and tyrosine-rich protein 1 is a protein that in humans is encoded by the CYYR1 gene and is located on chromosome 21, location 21q21.2. This protein has a function that is not presently understood.

SPATC1L is a protein that in humans is encoded by the SPATC1L gene.

Interferon-alpha/beta receptor beta chain is a protein that in humans is encoded by the IFNAR2 gene.

Alpha-crystallin A chain is a protein that in humans is encoded by the CRYAA gene.

protein-coding gene in the species Homo sapiens

ATP-binding cassette sub-family G member 1 is a protein that in humans is encoded by the ABCG1 gene. It is a homolog of the well-known Drosophila gene white.

Protein FAM3B is a protein that in humans is encoded by the FAM3B gene.

Proteasome assembly chaperone 1 is a protein that in humans is encoded by the PSMG1 gene.

T-complex protein 10A homolog 2 is a protein that in humans is encoded by the TCP10L gene. It is located next to CFAP298.

Trafficking protein particle complex subunit 10 is a protein that in humans is encoded by the TRAPPC10 gene.

Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the DYRK1A gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode for at least five different isoforms.

Interferon-induced GTP-binding protein Mx2 is a protein that in humans is encoded by the MX2 gene.

Carbonyl reductase 1, also known as CBR1, is an enzyme which in humans is encoded by the CBR1 gene. The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene.

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.

Claudin-17 is a protein that in humans is encoded by the CLDN17 gene. It belongs to the group of claudins; claudins are cell-cell junction proteins that keep that maintains cell- and tissue-barrier function. It forms anion-selective paracellular channels and is localized mainly in kidney proximal tubules.

Ubiquitin-conjugating enzyme E2 G2 is a protein that in humans is encoded by the UBE2G2 gene.

Periodic tryptophan protein 2 homolog is a protein that in humans is encoded by the PWP2 gene.

Carbonyl reductase [NADPH] 3 is an enzyme that in humans is encoded by the CBR3 gene.