VRTN_HUMAN
ID VRTN_HUMAN Reviewed; 702 AA.
AC Q9H8Y1; Q9NVC7;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Vertnin;
GN Name=VRTN; Synonyms=C14orf115;
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 [LARGE SCALE MRNA].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] MET-133.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q9H8Y1; Q96LT7: C9orf72; NbExp=6; IntAct=EBI-12894399, EBI-2961725;
CC Q9H8Y1; P56545-3: CTBP2; NbExp=5; IntAct=EBI-12894399, EBI-10171902;
CC Q9H8Y1; P38919: EIF4A3; NbExp=3; IntAct=EBI-12894399, EBI-299104;
CC Q9H8Y1; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-12894399, EBI-6658203;
CC Q9H8Y1; Q9BUI4: POLR3C; NbExp=3; IntAct=EBI-12894399, EBI-5452779;
CC Q9H8Y1; Q8WUD1: RAB2B; NbExp=5; IntAct=EBI-12894399, EBI-5542466;
CC Q9H8Y1; P20336: RAB3A; NbExp=5; IntAct=EBI-12894399, EBI-1045943;
CC Q9H8Y1; P20337: RAB3B; NbExp=3; IntAct=EBI-12894399, EBI-12894629;
CC Q9H8Y1; Q96E17: RAB3C; NbExp=3; IntAct=EBI-12894399, EBI-4287022;
CC Q9H8Y1; O95716: RAB3D; NbExp=3; IntAct=EBI-12894399, EBI-3386067;
CC -!- SIMILARITY: Belongs to the vertnin family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK023213; BAB14466.1; -; mRNA.
DR EMBL; AK001673; BAA91826.1; -; mRNA.
DR EMBL; BC053325; AAH53325.1; -; mRNA.
DR CCDS; CCDS9830.1; -.
DR RefSeq; NP_060698.2; NM_018228.2.
DR RefSeq; XP_011535213.1; XM_011536911.1.
DR AlphaFoldDB; Q9H8Y1; -.
DR BioGRID; 120530; 19.
DR IntAct; Q9H8Y1; 10.
DR STRING; 9606.ENSP00000256362; -.
DR iPTMnet; Q9H8Y1; -.
DR PhosphoSitePlus; Q9H8Y1; -.
DR BioMuta; VRTN; -.
DR DMDM; 41016925; -.
DR EPD; Q9H8Y1; -.
DR jPOST; Q9H8Y1; -.
DR MassIVE; Q9H8Y1; -.
DR PaxDb; Q9H8Y1; -.
DR PeptideAtlas; Q9H8Y1; -.
DR PRIDE; Q9H8Y1; -.
DR ProteomicsDB; 81255; -.
DR Antibodypedia; 7; 48 antibodies from 15 providers.
DR DNASU; 55237; -.
DR Ensembl; ENST00000256362.5; ENSP00000256362.4; ENSG00000133980.5.
DR GeneID; 55237; -.
DR KEGG; hsa:55237; -.
DR MANE-Select; ENST00000256362.5; ENSP00000256362.4; NM_018228.3; NP_060698.2.
DR UCSC; uc001xpw.5; human.
DR CTD; 55237; -.
DR DisGeNET; 55237; -.
DR GeneCards; VRTN; -.
DR HGNC; HGNC:20223; VRTN.
DR HPA; ENSG00000133980; Tissue enhanced (epididymis, testis).
DR neXtProt; NX_Q9H8Y1; -.
DR OpenTargets; ENSG00000133980; -.
DR PharmGKB; PA134899928; -.
DR VEuPathDB; HostDB:ENSG00000133980; -.
DR eggNOG; ENOG502SC23; Eukaryota.
DR GeneTree; ENSGT00390000007874; -.
DR HOGENOM; CLU_429970_0_0_1; -.
DR InParanoid; Q9H8Y1; -.
DR OMA; VLQRNIY; -.
DR OrthoDB; 570582at2759; -.
DR PhylomeDB; Q9H8Y1; -.
DR TreeFam; TF332015; -.
DR PathwayCommons; Q9H8Y1; -.
DR SignaLink; Q9H8Y1; -.
DR BioGRID-ORCS; 55237; 20 hits in 1067 CRISPR screens.
DR ChiTaRS; VRTN; human.
DR GenomeRNAi; 55237; -.
DR Pharos; Q9H8Y1; Tdark.
DR PRO; PR:Q9H8Y1; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9H8Y1; protein.
DR Bgee; ENSG00000133980; Expressed in buccal mucosa cell and 24 other tissues.
DR ExpressionAtlas; Q9H8Y1; baseline and differential.
DR Genevisible; Q9H8Y1; HS.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR010921; Trp_repressor/repl_initiator.
DR InterPro; IPR038822; Vertnin-like.
DR PANTHER; PTHR16081; PTHR16081; 1.
DR SUPFAM; SSF48295; SSF48295; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..702
FT /note="Vertnin"
FT /id="PRO_0000089926"
FT REGION 562..625
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 53
FT /note="L -> F (in dbSNP:rs2232032)"
FT /id="VAR_050876"
FT VARIANT 133
FT /note="V -> M (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs773509797)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035677"
FT CONFLICT 349
FT /note="A -> V (in Ref. 1; BAA91826)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 702 AA; 78260 MW; A68C3B77387E312F CRC64;
MTSRNQLVQK VLQELQEAVE CEGLEGLIGA SLEAKQVLSS FTLPTCREGG PGLQVLEVDS
VALSLYPEDA PRNMLPLVCK GEGSLLFEAA SMLLWGDAGL SLELRARTVV EMLLHRHYYL
QGMIDSKVML QAVRYSLCSE ESPEMTSLPP ATLEAIFDAD VKASCFPSSF SNVWHLYALA
SVLQRNIYSI YPMRNLKIRP YFNRVIRPRR CDHVPSTLHI MWAGQPLTSH FFRHQYFAPV
VGLEEVEAEG APGVAPALPA LAPLSSPAKT LELLNREPGL SYSHLCERYS VTKSTFYRWR
RQSQEHRQKV AARFSAKHFL QDSFHRGGVV PLQQFLQRFP EISRSTYYAW KHELLGSGTC
PALPPREVLG MEELEKLPEE QVAEEELECS ALAVSSPGMV LMQRAKLYLE HCISLNTLVP
YRCFKRRFPG ISRSTYYNWR RKALRRNPSF KPAPALSAAG TPQLASVGEG AVIPWKSEAE
EGAGNATGED PPAPGELLPL RMPLSRWQRR LRRAARRQVL SGHLPFCRFR LRYPSLSPSA
FWVWKSLARG WPRGLSKLQV PVPTLGKGGQ EAEEKQEKEA GRDVTAVMAP PVGASSEDVE
GGPSREGALQ EGATAQGQPH SGPLLSQPVV AAAGGRDGRM LVMDMIATTK FKAQAKLFLQ
KRFQSKSFPS YKEFSALFPL TARSTYYMWK RALYDGLTLV DG
