NICN1_HUMAN
ID NICN1_HUMAN Reviewed; 213 AA.
AC Q9BSH3; Q8IZQ2;
DT 31-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Nicolin-1;
DE AltName: Full=NPCEDRG;
DE AltName: Full=Tubulin polyglutamylase complex subunit 5;
DE Short=PGs5;
GN Name=NICN1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND SUBCELLULAR
RP LOCATION.
RX PubMed=12392556; DOI=10.1046/j.1432-1033.2002.03232.x;
RA Backofen B., Jacob R., Serth K., Gossler A., Naim H.Y., Leeb T.;
RT "Cloning and characterization of the mammalian-specific nicolin 1 gene
RT (NICN1) encoding a nuclear 24 kDa protein.";
RL Eur. J. Biochem. 269:5240-5245(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Nasopharyngeal carcinoma;
RA Xiusheng H., Zhuchu C., Fang T., Youjun L., Zhiqiang X., Zhimin H.,
RA Jianhua Z.;
RT "Cloning a novel gene, NPCEDRG, from the human chromosome 3p21.";
RL Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SUBUNIT: Part of the neuronal tubulin polyglutamylase complex which
CC contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BSH3; Q8N8Y2: ATP6V0D2; NbExp=3; IntAct=EBI-13324229, EBI-3923949;
CC Q9BSH3; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-13324229, EBI-10271199;
CC Q9BSH3; Q7Z4N8: P4HA3; NbExp=3; IntAct=EBI-13324229, EBI-10181968;
CC Q9BSH3; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-13324229, EBI-1389308;
CC Q9BSH3; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-13324229, EBI-6257312;
CC Q9BSH3; Q96A09: TENT5B; NbExp=3; IntAct=EBI-13324229, EBI-752030;
CC Q9BSH3; O43711: TLX3; NbExp=3; IntAct=EBI-13324229, EBI-3939165;
CC Q9BSH3; P0DI81-3: TRAPPC2; NbExp=3; IntAct=EBI-13324229, EBI-11961968;
CC Q9BSH3; Q8N5M4: TTC9C; NbExp=3; IntAct=EBI-13324229, EBI-2851213;
CC Q9BSH3; Q15935: ZNF77; NbExp=3; IntAct=EBI-13324229, EBI-12840750;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12392556}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BSH3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BSH3-2; Sequence=VSP_011420;
CC -!- TISSUE SPECIFICITY: High expression level is found in brain, testis,
CC liver and kidney. Weak expression in spleen, leukocytes, small
CC intestine and colon. {ECO:0000269|PubMed:12392556}.
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DR EMBL; AJ299740; CAC82516.1; -; mRNA.
DR EMBL; AF538150; AAN52734.1; -; mRNA.
DR EMBL; BC005050; AAH05050.1; -; mRNA.
DR EMBL; BC050653; AAH50653.1; -; mRNA.
DR CCDS; CCDS2798.1; -. [Q9BSH3-1]
DR RefSeq; NP_115692.1; NM_032316.3. [Q9BSH3-1]
DR AlphaFoldDB; Q9BSH3; -.
DR BioGRID; 124003; 21.
DR IntAct; Q9BSH3; 19.
DR STRING; 9606.ENSP00000273598; -.
DR iPTMnet; Q9BSH3; -.
DR PhosphoSitePlus; Q9BSH3; -.
DR BioMuta; NICN1; -.
DR DMDM; 51701690; -.
DR MassIVE; Q9BSH3; -.
DR PaxDb; Q9BSH3; -.
DR PeptideAtlas; Q9BSH3; -.
DR PRIDE; Q9BSH3; -.
DR ProteomicsDB; 78891; -. [Q9BSH3-1]
DR ProteomicsDB; 78892; -. [Q9BSH3-2]
DR Antibodypedia; 30534; 73 antibodies from 16 providers.
DR DNASU; 84276; -.
DR Ensembl; ENST00000273598.8; ENSP00000273598.4; ENSG00000145029.14. [Q9BSH3-1]
DR Ensembl; ENST00000423832.5; ENSP00000413115.1; ENSG00000145029.14. [Q9BSH3-1]
DR Ensembl; ENST00000615713.4; ENSP00000478287.1; ENSG00000145029.14. [Q9BSH3-1]
DR GeneID; 84276; -.
DR KEGG; hsa:84276; -.
DR MANE-Select; ENST00000273598.8; ENSP00000273598.4; NM_032316.3; NP_115692.1.
DR UCSC; uc003cwz.2; human. [Q9BSH3-1]
DR CTD; 84276; -.
DR DisGeNET; 84276; -.
DR GeneCards; NICN1; -.
DR HGNC; HGNC:18317; NICN1.
DR HPA; ENSG00000145029; Low tissue specificity.
DR MalaCards; NICN1; -.
DR MIM; 611516; gene.
DR neXtProt; NX_Q9BSH3; -.
DR OpenTargets; ENSG00000145029; -.
DR OpenTargets; ENSG00000283189; -.
DR PharmGKB; PA31623; -.
DR VEuPathDB; HostDB:ENSG00000145029; -.
DR eggNOG; ENOG502QQWA; Eukaryota.
DR GeneTree; ENSGT00390000001505; -.
DR GeneTree; ENSGT00940000157524; -.
DR InParanoid; Q9BSH3; -.
DR OMA; TIHRTQM; -.
DR PhylomeDB; Q9BSH3; -.
DR TreeFam; TF329753; -.
DR PathwayCommons; Q9BSH3; -.
DR Reactome; R-HSA-8955332; Carboxyterminal post-translational modifications of tubulin.
DR SignaLink; Q9BSH3; -.
DR BioGRID-ORCS; 84276; 12 hits in 1076 CRISPR screens.
DR ChiTaRS; NICN1; human.
DR GenomeRNAi; 84276; -.
DR Pharos; Q9BSH3; Tdark.
DR PRO; PR:Q9BSH3; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9BSH3; protein.
DR Bgee; ENSG00000145029; Expressed in prefrontal cortex and 97 other tissues.
DR ExpressionAtlas; Q9BSH3; baseline and differential.
DR Genevisible; Q9BSH3; HS.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR InterPro; IPR040235; Nicolin-1.
DR PANTHER; PTHR31239; PTHR31239; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Microtubule; Nucleus; Reference proteome.
FT CHAIN 1..213
FT /note="Nicolin-1"
FT /id="PRO_0000096814"
FT VAR_SEQ 166..213
FT /note="GLPDPSRVSSEVQQMWALTEMIRASHTSARIGRFDVDGCYDLNLLSYT ->
FT VSPHPR (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_011420"
FT CONFLICT 45..46
FT /note="Missing (in Ref. 2; AAN52734)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 213 AA; 24202 MW; 2170A24989952652 CRC64;
MSRVLVPCHV KGSVALQVGD VRTSQGRPGV LVIDVTFPSV APFELQEITF KNYYTAFLSI
RVRQYTSAHT PAKWVTCLRD YCLMPDPHSE EGAQEYVSLF KHQMLCDMAR ISELRLILRQ
PSPLWLSFTV EELQIYQQGP KSPSVTFPKW LSHPVPCEQP ALLREGLPDP SRVSSEVQQM
WALTEMIRAS HTSARIGRFD VDGCYDLNLL SYT
