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Genes on human chromosome 1

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PTPN22
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a cytoplasmatic protein encoded by gene PTPN22 and a member of PEST family of protein tyrosine phosphatases. This protein is also called "PEST-domain Enriched Phosphatase" ("PEP") or "Lymphoid phosphatase" ("LYP"). The name LYP is used strictly for the human protein encoded by PTPN22, but the name PEP is used only for its mouse homolog. However, both proteins have similar biological functions and show 70% identity in amino acid sequence. PTPN22 functions as a negative regulator of T cell receptor (TCR) signaling, which maintains hom
RPE65
Retinal pigment epithelium-specific 65 kDa protein (also known as RPE65) is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed in the retinal pigment epithelium (RPE, a layer of epithelial cells that nourish the photoreceptor cells) and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.
TRAPPC3
Trafficking protein particle complex subunit 3 is a protein that in humans is encoded by the TRAPPC3 gene.
WNT3A
Protein Wnt-3a is a protein that in humans is encoded by the WNT3A gene.
SPSB1
SPRY domain-containing SOCS box protein 1 is a protein that in humans is encoded by the SPSB1 gene.
SSBP3
Single-stranded DNA-binding protein 3 is a protein that in humans is encoded by the SSBP3 gene.
Complement C3b/C4b receptor 1 (Knops blood group)
mammalian protein found in Homo sapiens
EDN2
protein-coding gene in the species Homo sapiens
tumor necrosis factor ligand superfamily member 4
protein family
ISG15
Interferon-stimulated gene 15 (ISG15) is a 17 kDa secreted protein that in humans is encoded by the ISG15 gene. ISG15 is induced by type I interferon (IFN) and serves many functions, acting both as an extracellular cytokine and an intracellular protein modifier. The precise functions are diverse and vary among species but include potentiation of Interferon gamma (IFN-II) production in lymphocytes, ubiquitin-like conjugation to newly-synthesized proteins and negative regulation of the IFN-I response.
HSD3B2
HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
NUF2
Kinetochore protein Nuf2 is a protein that in humans is encoded by the NUF2 gene.
INTS7
Integrator complex subunit 7 is a protein that in humans is encoded by the INTS7 gene.
MEAF6
Chromatin modification-related protein MEAF6 is a protein that in humans is encoded by the MEAF6 gene.
INTS3
Integrator complex subunit 3 is a protein that in humans is encoded by the INTS3 gene.
SESN2
Sestrin-2 also known as Hi95 is a protein that in humans is encoded by the SESN2 gene.
TNFRSF9
CD137, a member of the tumor necrosis factor (TNF) receptor family, is a type 1 transmembrane protein, expressed on surfaces of leukocytes and non-immune cells. Its alternative names are tumor necrosis factor receptor superfamily member 9 (TNFRSF9), 4-1BB, and induced by lymphocyte activation (ILA). It is of interest to immunologists as a co-stimulatory immune checkpoint molecule, and as a potential target in cancer immunotherapy.
Fc fragment of IgG receptor IIb
Fc fragment of IgG receptor IIb (coded by FCGR2B gene) is a low affinity inhibitory receptor for the Fc region of immunoglobulin gamma (IgG). FCGR2B participates in the phagocytosis of immune complexes and in the regulation of antibody production by B lymphocytes.
RGS8
Regulator of G-protein signaling 8 is a protein that in humans is encoded by the RGS8 gene.
ATF3
Cyclic AMP-dependent transcription factor ATF-3 is a protein that, in humans, is encoded by the ATF3 gene.
ZNF687
Zinc finger protein 687 is a zinc finger protein that, in humans, is encoded by the ZNF687 gene.
SMG7
Protein SMG7 is a protein that in humans is encoded by the SMG7 gene.
CEP350
Centrosome-associated protein 350 is a protein that in humans is encoded by the CEP350 gene.
GADD45A
Growth arrest and DNA-damage-inducible protein GADD45 alpha is a protein that in humans is encoded by the GADD45A gene.
NR0B2
protein-coding gene in the species Homo sapiens
SLAMF7
SLAM family member 7 is a protein that in humans is encoded by the SLAMF7 gene.
NDC1
Nucleoporin NDC1 is a protein that in humans is encoded by the TMEM48 gene. It anchors aladin to the nuclear pore complex.
ASH1L
ASH1L (also called huASH1, ASH1, ASH1L1, ASH1-like, or KMT2H) is a histone-lysine N-methyltransferase enzyme encoded by the ASH1L gene located at chromosomal band 1q22. ASH1L is the human homolog of Drosophila Ash1 (absent, small, or homeotic-like).
DDX59
Probable ATP-dependent RNA helicase DDX59 is an enzyme that in humans is encoded by the DDX59 gene.
Fc fragment of IgG receptor Ia
High affinity immunoglobulin gamma Fc receptor I is a protein that in humans is encoded by the FCGR1A gene.
VAMP4
Vesicle-associated membrane protein 4 is a protein that in humans is encoded by the VAMP4 gene.
GATAD2B
Transcriptional repressor p66-beta is a protein that in humans is encoded by the GATAD2B gene.
FMO3
protein-coding gene in the species Homo sapiens
PRDM2
PR domain zinc finger protein 2 is a protein that in humans is encoded by the PRDM2 gene.
Kinesin family member 1B
Kinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.
Aldo-keto reductase family 1 member A1
mammalian protein found in Homo sapiens
DEDD
Death effector domain containing protein is a protein that in humans is encoded by the DEDD gene.
OPTC
Opticin is a protein that in humans is encoded by the OPTC gene.
FAF1
FAS-associated factor 1 is a protein that in humans is encoded by the FAF1 gene.
CTH
protein-coding gene in the species Homo sapiens
SLAMF6
SLAM family member 6 is a protein that in humans is encoded by the SLAMF6 gene.
AP4B1
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
SLAMF1
Signaling lymphocytic activation molecule 1 is a protein that in humans is encoded by the SLAMF1 gene. Recently SLAMF1 has also been designated CD150 (cluster of differentiation 150).
Geranylgeranyl diphosphate synthase 1
Geranylgeranyl pyrophosphate synthase is an enzyme that in humans is encoded by the GGPS1 gene.
PUM1
Pumilio homolog 1 is a protein that in humans is encoded by the PUM1 gene.
GJB4
Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.
TAF13
Transcription initiation factor TFIID subunit 13 is a protein that in humans is encoded by the TAF13 gene.
MFAP2
Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene.
CNIH4
Protein cornichon homolog 4 is a protein that in humans is encoded by the CNIH4 gene.
OTUD7B
OTU domain-containing protein 7B is a protein that in humans is encoded by the OTUD7B gene.
SRRM1
Serine/arginine repetitive matrix protein 1 is a protein that in humans is encoded by the SRRM1 gene.
VPS45
Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.
OR4F5
Olfactory receptor family 4 subfamily F member 5 is a protein that in humans is encoded by the OR4F5 gene.
RCC2
Protein RCC2 also known as telophase disk protein of 60 kDa (TD-60) or RCC1-like protein TD-60 is a protein that in humans is encoded by the RCC2 gene.
PLD5
Phospholipase D family, member 5 is a protein that in humans is encoded by the PLD5 gene.
HES3
Hes family bHLH transcription factor 3 is a protein that in humans is encoded by the HES3 gene.
SERBP1
Plasminogen activator inhibitor 1 RNA-binding protein (serbp1) is a protein that in humans is encoded by the SERBP1 gene.
CFHR3
Complement factor H-related protein 3 is a protein that in humans is encoded by the CFHR3 gene.
TOE1
Target of EGR1 protein 1 is a protein that in humans is encoded by the TOE1 gene.
DCLRE1B
DNA cross-link repair 1B protein is a protein that in humans is encoded by the DCLRE1B gene.