Terminology Service < Semantic Lookup Platform

All terms in UNIPROT

Label	Id	Description
Zinc finger protein Helios	Q9UKS7	[Function: Associates with Ikaros at centromeric heterochromatin.]
Secretogranin-3	Q8WXD2	[Function: Member of the granin protein family that regulates the biogenesis of secretory granules (PubMed:19357184). Acts as a sorting receptor for intragranular proteins including chromogranin A/CHGA (By similarity). May also play a role in angiogenesis. Promotes endothelial proliferation, migration and tube formation through MEK/ERK signaling pathway (PubMed:29154827).]
Biogenesis of lysosome-related organelles complex 1 subunit 6	Q9UL45	[Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process.]
Transcription factor-like 5 protein	Q9UL49	[Function: Putative transcription factor. Isoform 3 may play a role in early spermatogenesis.]
Uncharacterized protein C3orf62 homolog	Q9D9C7
Coiled-coil domain-containing protein 182	Q9D9C6
Caskin-1	Q8WXD9	[Function: May link the scaffolding protein CASK to downstream intracellular effectors.]
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 6	Q3KRA9	[Function: Probable dioxygenase that requires molecular oxygen, alpha-ketoglutarate and iron.]
ETS translocation variant 5	Q9CXC9	[Function: Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.]
Leucine-rich repeat-containing protein 39	D3ZXS4	[Function: Component of the sarcomeric M-band which plays a role in myocyte response to biomechanical stress. May regulate expression of other M-band proteins via an SRF-dependent pathway. Important for normal contractile function in heart.]
Gem-associated protein 6	Q8WXD5	[Function: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.]
LIM homeobox transcription factor 1-alpha	Q9JKU8	[Function: Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter. Required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae.]
Rho guanine nucleotide exchange factor 7	O55043	[Function: Acts as a RAC1 guanine nucleotide exchange factor (GEF) and can induce membrane ruffling. Functions in cell migration, attachment and cell spreading. Promotes targeting of RAC1 to focal adhesions. May function as a positive regulator of apoptosis. Downstream of NMDA receptors and CaMKK-CaMK1 signaling cascade, promotes the formation of spines and synapses in hippocampal neurons (By similarity).]
General vesicular transport factor p115	P41542	[Function: General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane (PubMed:7831323, PubMed:7831324, PubMed:10679020). May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity (PubMed:7831323, PubMed:7831324, PubMed:10679020).]
Alpha-synuclein	O55042	[Function: Neuronal protein that plays several roles in synaptic activity such as regulation of synaptic vesicle trafficking and subsequent neurotransmitter release. Participates as a monomer in synaptic vesicle exocytosis by enhancing vesicle priming, fusion and dilation of exocytotic fusion pores. Mechanistically, acts by increasing local Ca(2+) release from microdomains which is essential for the enhancement of ATP-induced exocytosis. Acts also as a molecular chaperone in its multimeric membrane-bound state, assisting in the folding of synaptic fusion components called SNAREs (Soluble NSF Attachment Protein REceptors) at presynaptic plasma membrane in conjunction with cysteine string protein-alpha/DNAJC5 (PubMed:20798282, PubMed:25246573). This chaperone activity is important to sustain normal SNARE-complex assembly during aging. Plays also a role in the regulation of the dopamine neurotransmission by associating with the dopamine transporter (DAT1) and thereby modulating its activity (By similarity).]
Dihydrofolate reductase 2, mitochondrial	Q86XF0	[Function: Key enzyme in folate metabolism. Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Binds its own mRNA and that of DHFR.]
E3 ubiquitin-protein ligase SHPRH	Q149N8	[Function: E3 ubiquitin-protein ligase involved in DNA repair. Upon genotoxic stress, accepts ubiquitin from the UBE2N-UBE2V2 E2 complex and transfers it to 'Lys-164' of PCNA which had been monoubiquitinated by UBE2A/B-RAD18, promoting the formation of non-canonical poly-ubiquitin chains linked through 'Lys-63'.]
Mitochondrial genome maintenance exonuclease 1	Q9CXC3	[Function: Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair (By similarity). Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.]
Serine/threonine-protein kinase tousled-like 2	O55047	[Function: Testis-specific isoforms may play a role in spermatogenesis. Highly expressed in embryos throughout development.]
Elongation of very long chain fatty acids protein 2	Q9NXB9	[Function: Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.]