| Name |
|---|
LOC729080 Gene
|
GCSHP2 Gene
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LOC641746 Gene
|
GCSHP5 Gene
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GCSHP4 Gene
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GCSHP3 Gene
|
GCSH Gene
Degradation of |
LOC442293 Gene
|
GATM Gene
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to |
LOC101060089 Gene
|
CPSF3L Gene
The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008] |
CPSF4L Gene
Predicted to enable RNA binding activity and metal ion binding activity. Predicted to be involved in mRNA 3'-end processing. Predicted to be located in nucleus. Predicted to be part of mRNA |
CLP1 Gene
This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA |
PCF11 Gene
PCF11
The protein encoded by this gene binds to CLP1 to form pre-mRNA |
CSTF1 Gene
This gene encodes one of three subunits which combine to form |
CSTF3 Gene
The protein encoded by this gene is one of three (including CSTF1 and CSTF2) |
CSTF2 Gene
This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the |
CPSF7 Gene
|
CPSF6 Gene
The protein encoded by this gene is one subunit of a |
CPSF4 Gene
Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of |
CPSF3 Gene
This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the |
CPSF2 Gene
Predicted to enable RNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and |
CPSF1 Gene
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CPSF1P1 Gene
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CSTF2T Gene
Enables RNA binding activity. Predicted to be involved in mRNA 3'-end processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100422285 Gene
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SLC7A6 Gene
solute carrier family 7 (amino acid transporter light chain, y+L Enables L-lysine:L-arginine antiporter activity and arginine binding activity. Involved in L-arginine transmembrane transport; L-leucine transport; and ornithine transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC7A1 Gene
solute carrier family 7 (cationic amino acid transporter, y+ Enables L-arginine transmembrane transporter activity; L-histidine transmembrane transporter activity; and L-lysine transmembrane transporter activity. Involved in carboxylic acid transport. Located in apical plasma membrane and basolateral plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025] |
LSAMP Gene
limbic
This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic |
SLC7A9 Gene
solute carrier family 7 (amino acid transporter light chain, bo,+
This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary |
SLC7A8 Gene
solute carrier family 7 (amino acid transporter light chain, L Enables several functions, including neutral L-amino acid transmembrane transporter activity; protein heterodimerization activity; and secondary active transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Mar 2025] |
SLC7A7 Gene
solute carrier family 7 (amino acid transporter light chain, y+L The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] |
SLC7A5 Gene
solute carrier family 7 (amino acid transporter light chain, L
Enables L-amino acid transmembrane transporter activity and secondary active transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in several cellular components, including apical plasma membrane; cytosol; and microvillus membrane. Part of amino acid transport complex. Implicated in cholangiocarcinoma; colon cancer; hepatocellular carcinoma; and lung squamous cell carcinoma. Biomarker of esophagitis; gastrointestinal |
SLC7A2 Gene
solute carrier family 7 (cationic amino acid transporter, y+ The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] |
SLC7A3 Gene
solute carrier family 7 (cationic amino acid transporter, y+ This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010] |
MINOS1P4 Gene
mitochondrial inner membrane organizing |
LOC284379 Gene
solute carrier family 7 (cationic amino acid transporter, y+ |
NSAP11 Gene
nervous |
VSX1 Gene
visual The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
SLC43A2 Gene
solute carrier family 43 (amino acid This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016] |
SLC43A1 Gene
solute carrier family 43 (amino acid
SLC43A1 belongs to the |
MINOS1P3 Gene
mitochondrial inner membrane organizing |
MINOS1P2 Gene
mitochondrial inner membrane organizing |
MINOS1P1 Gene
mitochondrial inner membrane organizing |
MINOS1 Gene
mitochondrial inner membrane organizing Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025] |
SLC7A5P1 Gene
solute carrier family 7 (amino acid transporter light chain, L This locus represents a pseudogene of the L-type amino acid transporter 1. Transcripts initiating at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016] |
SLC7A5P2 Gene
solute carrier family 7 (amino acid transporter light chain, L Predicted to enable transmembrane transporter activity. Predicted to be involved in L-alpha-amino acid transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100422610 Gene
solute carrier family 7 (cationic amino acid transporter, y+ |
VSX2 Gene
visual This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009] |
SLC1A1 Gene
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010] |
SLC7A10 Gene
solute carrier family 7 (neutral amino acid transporter light chain, asc SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008] |
SLC7A11 Gene
solute carrier family 7 (anionic amino acid transporter light chain, xc-
This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport |
MICOS10 Gene
mitochondrial contact site and cristae organizing Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025] |
MICOS13 Gene
mitochondrial contact site and cristae organizing Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025] |
PMS2P11 Gene
PMS1 homolog 2, mismatch repair Predicted to enable kinase activity. [provided by Alliance of Genome Resources, Mar 2025] |
LOC101929185 Gene
putative |
LOC100287485 Gene
|
LOC100420832 Gene
cysteine and |
PHGR1 Gene
proline/histidine/ |
GLDC Gene
Degradation of |
GNMT Gene
The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with |
GLYATL1P1 Gene
|
GLRB Gene
This gene encodes the beta subunit of the |
GLYATL2 Gene
Enables |
GLYATL3 Gene
Predicted to enable |
GLYATL1 Gene
Enables glutamine N-acyltransferase activity. Involved in glutamine metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
TRNAG-CCC Gene
transfer RNA This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104). |
GLDCP1 Gene
|
GLRA1 Gene
The protein encoded by this gene is a subunit of a pentameric inhibitory |
CSRP2P Gene
cysteine and |
GLRA3 Gene
This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the |
GLRA2 Gene
The |
GLRA4 Gene
This gene encodes a |
TRNAG-UCC Gene
transfer RNA This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104). |
TRNAG-GCC Gene
transfer RNA This record serves to anchor the annotations of this class of tRNAs at multiple locations on the human genome. The placements are predicted using tRNAscan-SE (Lowe, T.M. and Eddy, S.R. 1997. Nucleic Acids Res. 25:955-964, PubMed 9023104). |
GLYAT Gene
The |
LOC105377064 Gene
aspartate, |
SLC6A9 Gene
solute carrier family 6 (neurotransmitter transporter,
The amino acid |
CSRP1 Gene
cysteine and This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010] |
CSRP3 Gene
cysteine and This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] |
CSRP2 Gene
cysteine and CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
GLYATL1P2 Gene
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GLYATL1P4 Gene
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GLYATL1P3 Gene
Predicted to enable glutamine N-acyltransferase activity. Predicted to be involved in glutamine metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
GCATP1 Gene
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GCAT Gene
The degradation of L-threonine to |
GLYB Gene
|
LOC100420019 Gene
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DERPC Gene
DERPC proline and Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
SCYGR4 Gene
small cysteine and Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025] |
GLYATL1B Gene
Predicted to enable glutamine N-acyltransferase activity. Predicted to be involved in glutamine metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
GREP1 Gene
|
SCYGR6 Gene
small cysteine and Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025] |
SCYGR10 Gene
small cysteine and
This gene is a member of a large gene family that encodes keratin associated proteins (KRTAP) that play a role in hair formation. This gene belongs to a subfamily of the KRTAP family termed small cysteine and |
SCYGR1 Gene
small cysteine and |
SCYGR7 Gene
small cysteine and |
SCYGR8 Gene
small cysteine and |
SCYGR3 Gene
small cysteine and |
SCYGR2 Gene
small cysteine and |
SCYGR5 Gene
small cysteine and |