Human Genes Group 9 Flashcards
ZNF439
Zinc finger protein 439 Q8NDP4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSPAN11
Tetraspanin-11 (Tspan-11) A1L157 SUBCELLULAR LOCATION: Membrane .
YTHDC2
3’-5’ RNA helicase YTHDC2 (EC 3.4.13) (YTH domain-containing protein 2) (hYTHDC2) Q9H6S0 FUNCTION: 3’-5’ RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (, ). Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability (, ). Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6A-containing mRNAs: the 3’-5’ RNA helicase activity is required for this process and RNA degradation may be mediated by XRN1 exoribonuclease . Required for both spermatogenesis and oogenesis (By similarity).
WNT1
Proto-oncogene Wnt-1 (Proto-oncogene Int-1 homolog) P04628 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (, , , ). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (, ).
ZNF561
Zinc finger protein 561 Q8N587 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF568
Zinc finger protein 568 Q3ZCX4 FUNCTION: Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance proliferation or maintenance of neural stem cells.
WNT3A
Protein Wnt-3a P56704 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (, , , ). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) .
WNT5A
Protein Wnt-5a P41221 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor . Mediates motility of melanoma cells . Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity).
GGCX
Vitamin K-dependent gamma-carboxylase (EC 4.1.90) (Gamma-glutamyl carboxylase) (Peptidyl-glutamate 4-carboxylase) (Vitamin K gamma glutamyl carboxylase) P38435 FUNCTION: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.
TJP2
Tight junction protein ZO-2 (Tight junction protein 2) (Zona occludens protein 2) (Zonula occludens protein 2) Q9UDY2 FUNCTION: Plays a role in tight junctions and adherens junctions. SUBCELLULAR LOCATION: Cell junction, adherens junction. Cell membrane .
ZRANB2
Zinc finger Ran-binding domain-containing protein 2 (Zinc finger protein 265) (Zinc finger, splicing) O95218 FUNCTION: Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5’-splice site selection.
VCX2
Variable charge X-linked protein 2 (Variable charge protein on X with two repeats) (VCX-2r) (Variably charged protein X-B) (VCX-B) Q9H322 FUNCTION: May mediate a process in spermatogenesis or may play a role in sex ratio distortion.
BPY2; BPY2B; BPY2C
Testis-specific basic protein Y 2 (Basic charge, Y-linked 2) (Variably charged protein Y 2) O14599
ERVK-10
Endogenous retrovirus group K member 10 Pro protein (HERV-K10 Pro protein) (HERV-K107 Pro protein) (HERV-K_5q33.3 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P10265 FUNCTION: Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases.
MYO3A
Myosin-IIIa (EC 2.11.1) Q8NEV4 FUNCTION: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing . Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).
ABCC10
Multidrug resistance-associated protein 7 (ATP-binding cassette sub-family C member 10) Q5T3U5 FUNCTION: ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion.
MRNIP
MRN complex-interacting protein (MRN-interacting protein) Q6NTE8 FUNCTION: Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex . Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair . SUBCELLULAR LOCATION: Nucleus .
NAA11
N-alpha-acetyltransferase 11 (EC 2.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog B) (hARD2) (NatA catalytic subunit Naa11) Q9BSU3 FUNCTION: Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.
POMZP3
POM121 and ZP3 fusion protein (POM-ZP3) Q6PJE2
SLC4A1AP
Kanadaptin (Human lung cancer oncogene 3 protein) (HLC-3) (Kidney anion exchanger adapter protein) (Solute carrier family 4 anion exchanger member 1 adapter protein) Q9BWU0 SUBCELLULAR LOCATION: Nucleus . Note=Mainly nuclear. Small amounts are found in the cytoplasm.
HNRNPA0
Heterogeneous nuclear ribonucleoprotein A0 (hnRNP A0) Q13151 FUNCTION: mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post-transcriptional regulation of cytokines mRNAs.
POLR3E
DNA-directed RNA polymerase III subunit RPC5 (RNA polymerase III subunit C5) (DNA-directed RNA polymerase III 80 kDa polypeptide) Q9NVU0 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). SUBCELLULAR LOCATION: Nucleus.
RPE
Ribulose-phosphate 3-epimerase (EC 5.3.1) (Ribulose-5-phosphate-3-epimerase) Q96AT9 FUNCTION: Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.
RAPGEF4
Rap guanine nucleotide exchange factor 4 (Exchange factor directly activated by cAMP 2) (Exchange protein directly activated by cAMP 2) (EPAC 2) (cAMP-regulated guanine nucleotide exchange factor II) (cAMP-GEFII) Q8WZA2 FUNCTION: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity).