Sequence information
Variant position: 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 430 The length of the canonical sequence.
Location on the sequence:
NAAGFNVEKFYRIKTHHSND
I WIMGRKEPDSYDGITTNQRG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NAAGFNVEKFYRIKTHHSNDI WIMGRKEPDSYDGITTNQRG
Mouse NAAGFNAEKFYRIKTDHASEV WVMGKKEPESYDGIVTNQRG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 430
Purine nucleoside phosphorylase LACC1
Metal binding
250 – 250
Zinc; catalytic
Modified residue
247 – 247
N6-acetyllysine
Mutagenesis
247 – 247
K -> A. Decreased acetylation; does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages.
Mutagenesis
265 – 265
Y -> A. Does not affect ability to promote pattern recognition receptor (PRR)-induced cytokines in macrophages; when associated with A-52 and A-89.
Literature citations
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT VAL-254;
C13orf31 (FAMIN) is a central regulator of immunometabolic function.
Cader M.Z.; Boroviak K.; Zhang Q.; Assadi G.; Kempster S.L.; Sewell G.W.; Saveljeva S.; Ashcroft J.W.; Clare S.; Mukhopadhyay S.; Brown K.P.; Tschurtschenthaler M.; Raine T.; Doe B.; Chilvers E.R.; Griffin J.L.; Kaneider N.C.; Floto R.A.; D'Amato M.; Bradley A.; Wakelam M.J.; Dougan G.; Kaser A.;
Nat. Immunol. 17:1046-1056(2016)
Cited for: SUBCELLULAR LOCATION; INTERACTION WITH FASN; CHARACTERIZATION OF VARIANT VAL-254;
Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes.
Lahiri A.; Hedl M.; Yan J.; Abraham C.;
Nat. Commun. 8:15614-15614(2017)
Cited for: FUNCTION; INTERACTION WITH SDHA; PHOSPHORYLATION; ACETYLATION AT LYS-247; TISSUE SPECIFICITY; INDUCTION; CHARACTERIZATION OF VARIANT VAL-254; MUTAGENESIS OF TYR-52; TYR-89; LYS-247; 249-HIS-HIS-250 AND TYR-265;
LACC1 gene defects in familial form of juvenile arthritis.
Karacan I.; Ugurlu S.; Sahin S.; Everest E.; Kasapcopur O.; Tolun A.; Oezdogan H.; Turanli E.T.;
J. Rheumatol. 45:726-728(2018)
Cited for: INVOLVEMENT IN JUVAR; VARIANT VAL-254; VARIANT JUVAR 414-ARG--GLU-430 DEL;
FAMIN is a multifunctional purine enzyme enabling the purine nucleotide cycle.
Cader M.Z.; de Almeida Rodrigues R.P.; West J.A.; Sewell G.W.; Md-Ibrahim M.N.; Reikine S.; Sirago G.; Unger L.W.; Inglesias-Romero A.B.; Ramshorn K.; Haag L.M.; Saveljeva S.; Ebel J.F.; Rosenstiel P.; Kaneider N.C.; Lee J.C.; Lawley T.D.; Bradley A.; Dougan G.; Modis Y.; Griffin J.L.; Kaser A.;
Cell 180:278-295(2020)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANT VAL-254;
LACC1 required for NOD2-induced, ER stress-mediated innate immune outcomes in human macrophages and LACC1 risk variants modulate these outcomes.
Huang C.; Hedl M.; Ranjan K.; Abraham C.;
Cell Rep. 29:4525-4539(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH ATF6; EIF2AK3 AND ERN1; CHARACTERIZATION OF VARIANT VAL-254; CHARACTERIZATION OF VARIANT JUVAR ARG-284;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.