NREP_HUMAN
ID NREP_HUMAN Reviewed; 68 AA.
AC Q16612; B2RDN8; B7Z5D2; D3DSZ8;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Neuronal regeneration-related protein;
DE AltName: Full=Neuronal protein 3.1;
DE AltName: Full=Protein p311;
GN Name=NREP; Synonyms=C5orf13, P311;
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).
RC TISSUE=Heart;
RA Tsui S.K.W., Fung K.P., Waye M.M.Y., Lee C.Y.;
RT "Identification of a human heart cDNA sequence homologue of mouse P311
RT protein.";
RL Submitted (APR-1996) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Cerebellum;
RA Studler J.-M.;
RL Submitted (JUN-1995) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Lymph, and Skin;
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).
RN [6]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=11358844;
RA Mariani L., McDonough W.S., Hoelzinger D.B., Beaudry C., Kaczmarek E.,
RA Coons S.W., Giese A., Moghaddam M., Seiler R.W., Berens M.E.;
RT "Identification and validation of P311 as a glioblastoma invasion gene
RT using laser capture microdissection.";
RL Cancer Res. 61:4190-4196(2001).
RN [7]
RP FUNCTION, INTERACTION WITH FLNA, PHOSPHORYLATION AT SER-59, AND MUTAGENESIS
RP OF SER-59.
RX PubMed=16229809; DOI=10.1593/neo.05190;
RA McDonough W.S., Tran N.L., Berens M.E.;
RT "Regulation of glioma cell migration by serine-phosphorylated P311.";
RL Neoplasia 7:862-872(2005).
RN [8]
RP POSSIBLE FUNCTION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND INDUCTION.
RX PubMed=16484684; DOI=10.1165/rcmb.2005-0475oc;
RA Zhao L., Leung J.K., Yamamoto H., Goswami S., Kheradmand F., Vu T.H.;
RT "Identification of P311 as a potential gene regulating alveolar
RT generation.";
RL Am. J. Respir. Cell Mol. Biol. 35:48-54(2006).
CC -!- FUNCTION: May have roles in neural function. Ectopic expression
CC augments motility of gliomas. Promotes also axonal regeneration (By
CC similarity). May also have functions in cellular differentiation (By
CC similarity). Induces differentiation of fibroblast into myofibroblast
CC and myofibroblast ameboid migration. Increases retinoic-acid regulation
CC of lipid-droplet biogenesis (By similarity). Down-regulates the
CC expression of TGFB1 and TGFB2 but not of TGFB3 (By similarity). May
CC play a role in the regulation of alveolar generation. {ECO:0000250,
CC ECO:0000269|PubMed:11358844, ECO:0000269|PubMed:16229809}.
CC -!- SUBUNIT: Interacts with the latency-associated peptides (LAP) of TGFB1
CC and TGFB2; the interaction results in a decrease in TGFB autoinduction
CC (By similarity). Interacts with FLNA. {ECO:0000250,
CC ECO:0000269|PubMed:16229809}.
CC -!- INTERACTION:
CC Q16612; P56537: EIF6; NbExp=5; IntAct=EBI-718657, EBI-372243;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11358844}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q16612-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q16612-2; Sequence=VSP_043013;
CC -!- TISSUE SPECIFICITY: Expressed in lung (at protein level).
CC {ECO:0000269|PubMed:16484684}.
CC -!- DEVELOPMENTAL STAGE: In embryos of gestational week (gw) 24, detected
CC mostly in the epithelial cells of saccular surfaces. In gw 39, detected
CC in the cells lining the alveolar surfaces as well as in the mesenchyme
CC (at protein level). {ECO:0000269|PubMed:16484684}.
CC -!- INDUCTION: Down-regulated in emphysematous lung compared to normal
CC lung. {ECO:0000269|PubMed:16484684}.
CC -!- PTM: Phosphorylated on Ser-59. Phosphorylation decreases stability and
CC activity. {ECO:0000269|PubMed:16229809}.
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DR EMBL; U36189; AAA93255.1; -; mRNA.
DR EMBL; U30521; AAA74903.1; -; mRNA.
DR EMBL; AK298779; BAH12868.1; -; mRNA.
DR EMBL; AK315617; BAG37985.1; -; mRNA.
DR EMBL; CH471086; EAW49019.1; -; Genomic_DNA.
DR EMBL; CH471086; EAW49020.1; -; Genomic_DNA.
DR EMBL; CH471086; EAW49021.1; -; Genomic_DNA.
DR EMBL; CH471086; EAW49023.1; -; Genomic_DNA.
DR EMBL; CH471086; EAW49025.1; -; Genomic_DNA.
DR EMBL; BC011050; AAH11050.1; -; mRNA.
DR EMBL; BC019068; AAH19068.1; -; mRNA.
DR EMBL; BC072013; AAH72013.1; -; mRNA.
DR EMBL; BC072443; AAH72443.1; -; mRNA.
DR CCDS; CCDS4105.1; -. [Q16612-1]
DR CCDS; CCDS47255.1; -. [Q16612-2]
DR PIR; G02089; G02089.
DR RefSeq; NP_001135947.1; NM_001142475.1. [Q16612-2]
DR RefSeq; NP_001135948.1; NM_001142476.1. [Q16612-1]
DR RefSeq; NP_001135949.1; NM_001142477.1. [Q16612-1]
DR RefSeq; NP_001135950.1; NM_001142478.1. [Q16612-1]
DR RefSeq; NP_001135951.1; NM_001142479.1. [Q16612-1]
DR RefSeq; NP_001135952.1; NM_001142480.1. [Q16612-1]
DR RefSeq; NP_001135953.1; NM_001142481.1. [Q16612-1]
DR RefSeq; NP_001135954.1; NM_001142482.1. [Q16612-1]
DR RefSeq; NP_001135955.1; NM_001142483.1. [Q16612-1]
DR RefSeq; NP_004763.1; NM_004772.2. [Q16612-1]
DR AlphaFoldDB; Q16612; -.
DR BioGRID; 114727; 17.
DR IntAct; Q16612; 5.
DR MINT; Q16612; -.
DR STRING; 9606.ENSP00000378996; -.
DR iPTMnet; Q16612; -.
DR PhosphoSitePlus; Q16612; -.
DR BioMuta; NREP; -.
DR DMDM; 2833275; -.
DR MassIVE; Q16612; -.
DR PaxDb; Q16612; -.
DR PRIDE; Q16612; -.
DR Antibodypedia; 632; 124 antibodies from 24 providers.
DR DNASU; 9315; -.
DR Ensembl; ENST00000257435.12; ENSP00000257435.7; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000379671.7; ENSP00000368993.3; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000395634.7; ENSP00000378996.3; ENSG00000134986.14. [Q16612-2]
DR Ensembl; ENST00000419114.6; ENSP00000399766.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000446294.6; ENSP00000402965.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000447165.6; ENSP00000408839.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000450761.6; ENSP00000416617.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000453526.6; ENSP00000403383.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000455559.6; ENSP00000392559.2; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000508870.5; ENSP00000427149.1; ENSG00000134986.14. [Q16612-1]
DR Ensembl; ENST00000509427.5; ENSP00000422630.1; ENSG00000134986.14. [Q16612-1]
DR GeneID; 9315; -.
DR KEGG; hsa:9315; -.
DR MANE-Select; ENST00000257435.12; ENSP00000257435.7; NM_004772.4; NP_004763.1.
DR UCSC; uc003kpl.3; human. [Q16612-1]
DR CTD; 9315; -.
DR DisGeNET; 9315; -.
DR GeneCards; NREP; -.
DR HGNC; HGNC:16834; NREP.
DR HPA; ENSG00000134986; Low tissue specificity.
DR MIM; 607332; gene.
DR neXtProt; NX_Q16612; -.
DR OpenTargets; ENSG00000134986; -.
DR PharmGKB; PA128394547; -.
DR VEuPathDB; HostDB:ENSG00000134986; -.
DR eggNOG; ENOG502SFKT; Eukaryota.
DR GeneTree; ENSGT00390000016521; -.
DR HOGENOM; CLU_2144998_0_0_1; -.
DR InParanoid; Q16612; -.
DR OMA; TIWVSQK; -.
DR OrthoDB; 1603548at2759; -.
DR PhylomeDB; Q16612; -.
DR TreeFam; TF336368; -.
DR PathwayCommons; Q16612; -.
DR SignaLink; Q16612; -.
DR BioGRID-ORCS; 9315; 14 hits in 1031 CRISPR screens.
DR ChiTaRS; NREP; human.
DR GeneWiki; C5orf13; -.
DR GenomeRNAi; 9315; -.
DR Pharos; Q16612; Tbio.
DR PRO; PR:Q16612; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q16612; protein.
DR Bgee; ENSG00000134986; Expressed in cortical plate and 207 other tissues.
DR ExpressionAtlas; Q16612; baseline and differential.
DR Genevisible; Q16612; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031103; P:axon regeneration; IBA:GO_Central.
DR GO; GO:0045664; P:regulation of neuron differentiation; IBA:GO_Central.
DR GO; GO:0017015; P:regulation of transforming growth factor beta receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR024417; Neuronal_3.1.
DR PANTHER; PTHR17102; PTHR17102; 1.
DR Pfam; PF11092; Alveol-reg_P311; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..68
FT /note="Neuronal regeneration-related protein"
FT /id="PRO_0000057937"
FT REGION 22..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 22..42
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 59
FT /note="Phosphoserine"
FT /evidence="ECO:0000305|PubMed:16229809"
FT VAR_SEQ 1
FT /note="M -> MKGVWNYSALSRREDETRTQRSRMTDRVPCSKCFQVHCQISVLNC
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043013"
FT VARIANT 43
FT /note="E -> G (in dbSNP:rs11559)"
FT /id="VAR_051238"
FT MUTAGEN 59
FT /note="S->A: Reduces protein degradation and induces glioma
FT cell migration."
FT /evidence="ECO:0000269|PubMed:16229809"
FT MUTAGEN 59
FT /note="S->D: Accelerates protein degradation and reduces
FT glioma cell migration."
FT /evidence="ECO:0000269|PubMed:16229809"
SQ SEQUENCE 68 AA; 7909 MW; 4E612BC929D45122 CRC64;
MVYYPELFVW VSQEPFPNKD MEGRLPKGRL PVPKEVNRKK NDETNAASLT PLGSSELRSP
RISYLHFF
