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Genes on human chromosome 6

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IRF4
Interferon regulatory factor 4 (IRF4) also known as MUM1 is a protein that in humans is encoded by the IRF4 gene. IRF4 functions as a key regulatory transcription factor in the development of human immune cells. The expression of IRF4 is essential for the differentiation of T lymphocytes and B lymphocytes as well as certain myeloid cells. Dysregulation of the IRF4 gene can result in IRF4 functioning either as an oncogene or a tumor-suppressor, depending on the context of the modification.
TNFRSF21
protein-coding gene in the species Homo sapiens
TAAR1
Trace amine-associated receptor 1 (TAAR1) is a trace amine-associated receptor (TAAR) protein that in humans is encoded by the TAAR1 gene.
homeostatic iron regulator
mammalian protein found in Homo sapiens
Glutamate metabotropic receptor 1
mammalian protein found in Homo sapiens
C4A
Complement C4-A is a kind of the Complement component 4 protein that in humans is encoded by the C4A gene.
EPHA7
Ephrin type-A receptor 7 is a protein that in humans is encoded by the EPHA7 gene.
DDR1
Discoidin domain receptor family, member 1, also known as DDR1 or CD167a (cluster of differentiation 167a), is a human gene.
GCM1
Chorion-specific transcription factor GCMa is a protein that, in humans, is encoded by the GCM1 gene.
CRYBG1
Absent in melanoma 1 protein is a protein that in humans is encoded by the AIM1 gene.
p38 mitogen-activated protein kinases
protein family
utrophin
Utrophin is a protein that in humans is encoded by the UTRN gene. The name is a short form for ubiquitous dystrophin. The 900 kb gene for utrophin is found on the long arm of human chromosome 6.
Desmoplakin
thumb|350px|Cell adhesion in desmosomes Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present wi
AIG1
Androgen-induced protein 1 is a protein that in humans is encoded by the AIG1 gene.
ESR1
protein-coding gene in the species Homo sapiens
SGK1
Serine/threonine-protein kinase Sgk1 also known as serum and glucocorticoid-regulated kinase 1 is an enzyme that in humans is encoded by the SGK1 gene.
IYD
protein-coding gene in the species Homo sapiens
GLO1
protein-coding gene in the species Homo sapiens
GMP reductase
class of enzymes
STX7
Syntaxin-7 is a protein that in humans is encoded by the STX7 gene.
acetyl-CoA C-acetyltransferase
class of enzymes
Parkin RBR E3 ubiquitin protein ligase
mammalian protein found in Homo sapiens
ZSCAN9
Zinc finger protein 193 is a protein that in humans is encoded by the ZNF193 gene.
NELFE
Negative elongation factor E is a protein that in humans is encoded by the RDBP gene.
POLH
protein-coding gene in the species Homo sapiens
HEY2
Hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) also known as cardiovascular helix-loop-helix factor 1 (CHF1) is a protein that in humans is encoded by the HEY2 gene.
LST1
Leukocyte-specific transcript 1 protein is a protein that in humans is encoded by the LST1 gene.
FLOT1
Flotillin-1 is a protein that in humans is encoded by the FLOT1 gene.
SERPINB1
Leukocyte elastase inhibitor (LEI) also known as serpin B1 is a protein that in humans is encoded by the SERPINB1 gene. It is a member of the clade B serpins or ov-serpins (ovalbumin related serpins) founded by ovalbumin.
PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
QKI
Quaking homolog, KH domain RNA binding (mouse), also known as QKI, is a protein which in humans is encoded by the QKI gene.
SESN1
Sestrin 1, also known as p53-regulated protein PA26, is a protein that in humans is encoded by the SESN1 gene. This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the
ASF1A
Histone chaperone ASF1A is a protein that in humans is encoded by the ASF1A gene.
FYN proto-oncogene, Src family tyrosine kinase
Proto-oncogene tyrosine-protein kinase Fyn (p59-FYN, Slk, Syn, MGC45350, Gene ID 2534) is an enzyme that in humans is encoded by the FYN gene.
ECT2L
Epithelial cell transforming sequence 2 oncogene-like is a protein that in humans is encoded by the ECT2L gene.
DCDC2
Doublecortin domain-containing protein 2 (DCDC2) is a protein that in humans is encoded by the DCDC2 gene.
FBXO5
F-box only protein 5 is a protein that in humans is encoded by the FBXO5 gene.
FILIP1
Filamin-A-interacting protein 1, abbreviated as FILIP1, is a protein that in humans is encoded by the FILIP1 gene.
DXO
Protein Dom3Z is a protein that in humans is encoded by the DOM3Z gene.
GMNN
Geminin, DNA replication inhibitor, also known as GMNN, is a protein in humans encoded by the GMNN gene. A nuclear protein present in most eukaryotes and highly conserved across species, numerous functions have been elucidated for geminin including roles in metazoan cell cycle, cellular proliferation, cell lineage commitment, and neural differentiation. One example of its function is the inhibition of Cdt1.
VTA1
Vacuolar protein sorting-associated protein VTA1 homolog is a protein that in humans is encoded by the VTA1 gene.
THBS2
Thrombospondin-2 is a protein that in humans is encoded by the THBS2 gene.
FRS3
Fibroblast growth factor receptor substrate 3 is a protein that in humans is encoded by the FRS3 gene.
ELOVL5
Elongation of very long chain fatty acids protein 5 is a protein that in humans is encoded by the ELOVL5 gene.
HMGN3
High mobility group nucleosome-binding domain-containing protein 3 is a protein that in humans is encoded by the HMGN3 gene.
H1-5
Histone H1.5 is a protein that in humans is encoded by the HIST1H1B gene.
EYA4
protein-coding gene in the species Homo sapiens
VPS52
Vacuolar protein sorting-associated protein 52 homolog is a protein that in humans is encoded by the VPS52 gene.
FANCE
Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA cross-linking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly in
RNF8
E3 ubiquitin-protein ligase RNF8 is an enzyme that in humans is encoded by the RNF8 gene. RNF8 has activity both in immune system functions and in DNA repair.
GTF2H5
General transcription factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene. ==Function==
MDC1
Mediator of DNA damage checkpoint protein 1 is a 2080 amino acid long protein that in humans is encoded by the MDC1 gene located on the short arm (p) of chromosome 6. MDC1 protein is a regulator of the Intra-S phase and the G2/M cell cycle checkpoints and recruits repair proteins to the site of DNA damage. It is involved in determining cell survival fate in association with tumor suppressor protein p53. This protein also goes by the name Nuclear Factor with BRCT Domain 1 (NFBD1).
5'-nucleotidase ecto
5′-nucleotidase (5′-NT), also known as ecto-5′-nucleotidase or CD73 (cluster of differentiation 73), is an enzyme that in humans is encoded by the NT5E gene. CD73 commonly serves to convert AMP to adenosine.
SERINC1
Serine incorporator 1 is a protein that in humans is encoded by the SERINC1 gene.
ORC3
Origin recognition complex subunit 3 is a protein that in humans is encoded by the ORC3 (ORC3L) gene.
endothelin 1
mammalian protein found in human, mouse, rat
HCRTR2
protein-coding gene in the species Homo sapiens
SMAP1
Stromal membrane-associated protein 1 is a protein that in humans is encoded by the SMAP1 gene.
SSR1
Translocon-associated protein subunit alpha is a protein that in humans is encoded by the SSR1 gene.
EXOC2
Exocyst complex component 2 is a protein that in humans is encoded by the EXOC2 gene.