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DISEASES
The following proteins in
Homo sapiens
appear to match your input.
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1) '9606.ENSP00000346659':
OCA2 - P protein; Could be involved in the transport of tyrosine, the precursor to melanin synthesis, within the melanocyte. Regulates the pH of melanosome and the melanosome maturation. One of the components of the mammalian pigmentary system. Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis. May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color. Belongs to the CitM (TC 2.A.11) transporter family.
[a.k.a. BEY2, SHEP1, CCDS10020.1]
2) '9606.ENSP00000250615':
AANAT - Serotonin N-acetyltransferase; Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N- acetylserotonin, the penultimate step in the synthesis of melatonin. Belongs to the acetyltransferase family. AANAT subfamily.
[a.k.a. ENST00000587798.1, ENST00000585649, ENSP00000250615]
3) '9606.ENSP00000494831':
SNRPN - Small nuclear ribonucleoprotein-associated protein N; May be involved in tissue-specific alternative RNA processing events.
[a.k.a. OMIM:182279, Tissue-specific-splicing protein, ENST00000444203]
4) '9606.ENSP00000497810':
MAGEL2 - MAGE-like protein 2; Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly. Regulates the circadian clock by repressing the transcriptional activ [...]
[a.k.a. Q9UJ55, NM_019066, MAGE-like protein 2]
5) '9606.SNORD116':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
6) '9606.ENSP00000497916':
NDN - Necdin; Growth suppressor that facilitates the entry of the cell into cell cycle arrest. Functionally similar to the retinoblastoma protein it binds to and represses the activity of cell-cycle-promoting proteins such as SV40 large T antigen, adenovirus E1A, and the transcription factor E2F. Necdin also interacts with p53 and works in an additive manner to inhibit cell growth. Functions also as transcription factor and binds directly to specific guanosine-rich DNA sequences (By similarity).
[a.k.a. BC008750, necdin, MAGE family member, uc001ywk.4]
7) '9606.ENSP00000313881':
MKRN3 - Probable E3 ubiquitin-protein ligase makorin-3; E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.
[a.k.a. Makorin ring finger protein 3, 7681, ENST00000568945]
8) '9606.SNORD115':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
9) '9606.ENSP00000497594':
UBE3A - Ubiquitin-protein ligase E3A; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates. Several substrates have been identified including the ARNTL/BMAL1, ARC, RAD23A and RAD23B, MCM7 (which is involved in DNA replication), annexin A1, the PML tumor suppressor, and the cell cycle regulator CDKN1B. Additionally, may function as a cellular quality control ubiquitin ligase by helping the degradation of the cytoplasmic misfolded proteins. Finally, UBE3A also promotes its own degradation in vivo [...]
[a.k.a. E6-AP, NM_001354509.2, NP_001341469]
10) '9606.SNORD116@':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
