Genes on human chromosome 14

human chromosome

mammalian protein found in Homo sapiens

molecule found on the surface of some immune cells

class of enzymes

Dicer, also known as endoribonuclease Dicer or helicase with RNase motif, is an enzyme that in humans is encoded by the gene. Being part of the RNase III family, Dicer cleaves double-stranded RNA (dsRNA) and pre-microRNA (pre-miRNA) into short double-stranded RNA fragments called small interfering RNA and microRNA, respectively. These fragments are approximately 20–25 base pairs long with a two-base overhang on the 3′-end. Dicer facilitates the activation of the RNA-induced silencing complex (RISC), which is essential for RNA interference. RISC has a catalytic component Argonaute, which is an

InterPro Family

Arginase (, arginine amidinase, canavanase, L-arginase, arginine transamidinase) is a manganese-containing enzyme. The reaction catalyzed by this enzyme is: arginine + H2O → ornithine + urea It is the final enzyme of the urea cycle. It is ubiquitous to all domains of life.

class of enzymes

class of enzymes

Neuroglobin is a member of the vertebrate globin family involved in cellular oxygen homeostasis and reactive oxygen/nitrogen scavenging. It is an intracellular hemoprotein expressed in the central and peripheral nervous system, cerebrospinal fluid, retina and endocrine tissues. Neuroglobin is a monomer that reversibly binds oxygen with an affinity higher than that of hemoglobin. It also increases oxygen availability to brain tissue and provides protection under hypoxic or ischemic conditions, potentially limiting brain damage. Neuroglobin were in the past found only in vertebrate neurons, but

family of protein complexes

group of proteins

protein-RNA complex facilitating translocation of proteins across membranes

Transcortin, also known as corticosteroid-binding globulin (CBG) or serpin A6, is a protein produced in the liver in animals. In humans it is encoded by the SERPINA6 gene. It is an alpha-globulin.

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Angiogenin (ANG) also known as ribonuclease 5 is a small 123 amino acid protein that in humans is encoded by the ANG gene. Angiogenin is a potent stimulator of new blood vessels through the process of angiogenesis. Ang hydrolyzes cellular RNA, resulting in modulated levels of protein synthesis and interacts with DNA causing a promoter-like increase in the expression of rRNA. Ang is associated with cancer and neurological disease through angiogenesis and through activating gene expression that suppresses apoptosis.

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

antiporter membrane protein that removes calcium from cells

InterPro Family

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene. PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.

YY1 (Yin Yang 1) is a transcriptional repressor protein in humans that is encoded by the YY1 gene.

Presenilins are a family of related multi-pass transmembrane proteins which constitute the catalytic subunits of the gamma-secretase intramembrane protease protein complex. They were first identified in screens for mutations causing early onset forms of familial Alzheimer's disease by Peter St George-Hyslop. Vertebrates have two presenilin genes, called PSEN1 (located on chromosome 14 in humans) that codes for presenilin 1 (PS-1) and PSEN2 (on chromosome 1 in humans) that codes for presenilin 2 (PS-2). Both genes show conservation between species, with little difference between rat and human p

protein-coding gene in the species Homo sapiens

Hypoxia-inducible factor 1-alpha, also known as HIF-1-alpha, is a subunit of a heterodimeric transcription factor hypoxia-inducible factor 1 (HIF-1) that is encoded by the HIF1A gene. The Nobel Prize in Physiology or Medicine 2019 was awarded for the discovery of HIF.

Chromogranin-A (CgA) or parathyroid secretory protein 1 is encoded in the human by the 'gene CHGA'''''. Cga is a member of the granin family of neuroendocrine secretory proteins. As such, it is located in secretory vesicles of neurons and endocrine cells such as islet beta cell secretory granules in the pancreas.

Galactosylceramidase (or galactocerebrosidase), , is an enzyme that removes galactose from ceramide derivatives (galactosylceramides) by catalysing the hydrolysis of galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride.

RNA-binding protein Nova-1 is a protein that in humans is encoded by the NOVA1 gene.

B-cell lymphoma/leukemia 11B is a protein that in humans is encoded by the BCL11B gene.

protein-coding gene in the species Homo sapiens

FK506-binding protein 3 also known as FKBP25 is a protein that in humans is encoded by the FKBP3 gene.

RAC(Rho family)-alpha serine/threonine-protein kinase is an enzyme that in humans is encoded by the AKT1 gene. This enzyme belongs to the AKT subfamily of serine/threonine kinases that contain SH2 (Src homology 2-like) protein domains. It is commonly referred to as PKB, or by both names as "Akt/PKB".

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.

cell surface protein binding somatostatin and triggering intracellular changes

class of enzymes

Cysteine-rich protein 2 is a protein that in humans is encoded by the CRIP2 gene.

Butyrate response factor 1 is a protein that in humans is encoded by the ZFP36L1 gene.

MIS18 binding protein 1 is a protein that in humans is encoded by the MIS18BP1 gene. The gene is also known as LKNL2, M18BP1, C14orf106, and HSA242977. M18BP1 protein is an important component in the CENPA deposition pathway, and in most eukaryotes M18BP1 is necessary for chromosome segregation.

Regulator of G-protein signaling 6 is a protein that in humans is encoded by the RGS6 gene.

Cysteine-rich protein 1 is a protein that in humans is encoded by the CRIP1 gene.

Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.

Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the PSEN1 gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease.

Eukaryotic translation initiation factor 5 is a protein that in humans is encoded by the EIF5 gene.

Protein pellino homolog 2 is a protein that in humans is encoded by the PELI2 gene.

mammalian protein found in Homo sapiens

Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain. The extracellular domain interacts with proteins in the synaptic cleft, most notably neuroligin, while the intracellular cytoplasmic portion interacts with proteins associated with exocytosis. Neurexin and neuroligin "shake hands," resulting in the connection between the two neurons and the production of a synapse. Neurexins mediate signaling across the synapse, and influence the

mammalian protein found in Homo sapiens

Cochlin is a protein that in humans is encoded by the COCH gene. It is an extracellular matrix (ECM) protein highly abundant in the cochlea and vestibule of the inner ear, constituting the major non-collagen component of the ECM of the inner ear. The protein is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively.

Apoptotic chromatin condensation inducer in the nucleus is a protein that in humans is encoded by the ACIN1 gene.

snRNA-activating protein complex subunit 1 is a protein that in humans is encoded by the SNAPC1 gene.

Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 is a protein that in humans is encoded by the GNG2 gene.

REST corepressor 1 also known as CoREST is a protein that in humans is encoded by the RCOR1 gene.

Poly [ADP-ribose] polymerase 2 is an enzyme that in humans is encoded by the PARP2 gene. It is one of the PARP family of enzymes.

Poly(A) polymerase alpha is an enzyme that in humans is encoded by the PAPOLA gene.