MELT_MOUSE
ID MELT_MOUSE Reviewed; 833 AA.
AC A1A535; E9QP23; Q8K4P5; Q8K4P6; Q9CYR8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2013, sequence version 2.
DT 03-AUG-2022, entry version 103.
DE RecName: Full=Ventricular zone-expressed PH domain-containing protein 1;
DE AltName: Full=Protein melted homolog;
GN Name=Veph1; Synonyms=Veph;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), TISSUE SPECIFICITY,
RP DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=15388229; DOI=10.1016/j.biochi.2004.07.010;
RA Muto E., Tabata Y., Taneda T., Aoki Y., Muto A., Arai K., Watanabe S.;
RT "Identification and characterization of Veph, a novel gene encoding a PH
RT domain-containing protein expressed in the developing central nervous
RT system of vertebrates.";
RL Biochimie 86:523-531(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
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 -!- FUNCTION: Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits
CC dissociation of activated SMAD2 from TGFBR1, impeding its nuclear
CC accumulation and resulting in impaired TGF-beta signaling. May also
CC affect FOXO, Hippo and Wnt signaling. {ECO:0000250|UniProtKB:Q14D04}.
CC -!- SUBUNIT: Interacts with TGFBR1. {ECO:0000250|UniProtKB:Q14D04}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q14D04};
CC Peripheral membrane protein {ECO:0000250|UniProtKB:Q9VS24}; Cytoplasmic
CC side {ECO:0000250|UniProtKB:Q9VS24}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=A;
CC IsoId=A1A535-1; Sequence=Displayed;
CC Name=B;
CC IsoId=A1A535-2; Sequence=VSP_027434;
CC -!- TISSUE SPECIFICITY: Specifically expressed in kidney and eye. In the
CC eye, expressed in retinal pigmented epithelium but not in the neural
CC retina. {ECO:0000269|PubMed:15388229}.
CC -!- DEVELOPMENTAL STAGE: Strongly expressed in brain and eye from 12 dpc to
CC 17 dpc. After birth, brain expression decreases, whereas eye expression
CC remains stable. {ECO:0000269|PubMed:15388229}.
CC -!- DOMAIN: The PH domain is required for membrane targeting.
CC {ECO:0000250}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype.
CC {ECO:0000269|PubMed:15388229}.
CC -!- SIMILARITY: Belongs to the MELT/VEPH family. {ECO:0000305}.
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DR EMBL; AB085187; BAC02920.1; -; mRNA.
DR EMBL; AB085189; BAC02922.1; -; mRNA.
DR EMBL; AK013398; BAB28831.1; -; mRNA.
DR EMBL; AC098705; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC121312; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC121797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC128271; AAI28272.1; -; mRNA.
DR CCDS; CCDS17391.1; -. [A1A535-1]
DR RefSeq; NP_665819.2; NM_145820.3. [A1A535-1]
DR AlphaFoldDB; A1A535; -.
DR STRING; 10090.ENSMUSP00000029419; -.
DR iPTMnet; A1A535; -.
DR PhosphoSitePlus; A1A535; -.
DR PaxDb; A1A535; -.
DR PRIDE; A1A535; -.
DR ProteomicsDB; 295998; -. [A1A535-1]
DR ProteomicsDB; 295999; -. [A1A535-2]
DR Antibodypedia; 18417; 46 antibodies from 16 providers.
DR Ensembl; ENSMUST00000029419; ENSMUSP00000029419; ENSMUSG00000027831. [A1A535-1]
DR GeneID; 72789; -.
DR KEGG; mmu:72789; -.
DR UCSC; uc008pky.3; mouse. [A1A535-2]
DR UCSC; uc008pkz.3; mouse. [A1A535-1]
DR CTD; 79674; -.
DR MGI; MGI:1920039; Veph1.
DR VEuPathDB; HostDB:ENSMUSG00000027831; -.
DR eggNOG; KOG3723; Eukaryota.
DR GeneTree; ENSGT00390000018660; -.
DR HOGENOM; CLU_010394_0_0_1; -.
DR InParanoid; A1A535; -.
DR OMA; VYPKQPD; -.
DR OrthoDB; 139521at2759; -.
DR PhylomeDB; A1A535; -.
DR TreeFam; TF314736; -.
DR BioGRID-ORCS; 72789; 1 hit in 69 CRISPR screens.
DR ChiTaRS; Veph1; mouse.
DR PRO; PR:A1A535; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; A1A535; protein.
DR Bgee; ENSMUSG00000027831; Expressed in otolith organ and 51 other tissues.
DR Genevisible; A1A535; MM.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0010314; F:phosphatidylinositol-5-phosphate binding; IBA:GO_Central.
DR GO; GO:0060392; P:negative regulation of SMAD protein signal transduction; ISS:UniProtKB.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; ISS:UniProtKB.
DR GO; GO:0009966; P:regulation of signal transduction; IBA:GO_Central.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR039888; Melted-like.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR PANTHER; PTHR21630; PTHR21630; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00233; PH; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Membrane; Reference proteome.
FT CHAIN 1..833
FT /note="Ventricular zone-expressed PH domain-containing
FT protein 1"
FT /id="PRO_0000297956"
FT DOMAIN 716..819
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 201..319
FT /note="Interaction with TGFBR1"
FT /evidence="ECO:0000250|UniProtKB:Q14D04"
FT REGION 663..833
FT /note="Interaction with TGFBR1"
FT /evidence="ECO:0000250|UniProtKB:Q14D04"
FT VAR_SEQ 1..580
FT /note="Missing (in isoform B)"
FT /evidence="ECO:0000303|PubMed:15388229,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_027434"
FT CONFLICT 500
FT /note="G -> E (in Ref. 4; AAI28272)"
FT /evidence="ECO:0000305"
FT CONFLICT 516
FT /note="T -> I (in Ref. 4; AAI28272)"
FT /evidence="ECO:0000305"
FT CONFLICT 541
FT /note="I -> V (in Ref. 4; AAI28272)"
FT /evidence="ECO:0000305"
FT CONFLICT 739
FT /note="H -> R (in Ref. 1; BAC02920/BAC02922 and 4;
FT AAI28272)"
FT /evidence="ECO:0000305"
FT CONFLICT 762
FT /note="S -> P (in Ref. 1; BAC02920/BAC02922 and 4;
FT AAI28272)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 833 AA; 94502 MW; 993B4BC4542E2CAF CRC64;
MHQLFRLVLG QKDLSKAGDL FSLDDAEIED SLTEALEQIK VISSSLDYQT NNNDQAVVEI
CITRITTAIR ETESIEKHAR ALVGLWDSCL EHNLRPAGKD EDTPHAKIAS DIMSCILQNY
NRTPVMVLAV PIAVKFLHRG SKELCRNMSN YLSLAAITKA DLLADHTEGI IKSILQGNAM
LLRVLPAVYE KQPQPINRHL AELLALMSQL EQTEQYHLLR LLHVAAKRKD VEVVQKCVPF
LIRNLKDSTY NDIILNILIE IAGHEPLALN SFLPMLKEIA EQFPYLTGQM ARIFGAVGHV
DEERARSCLR YLVSQLANME HPFHHILLLE IKSITDAFSS ILGPHSRDIF RMSNSFTNIA
KLLSRQLENS KADSSRRKTS TEVSIPEKLR ELNSMEPESE DHEKLQVKIQ AFEDKINAES
NTPGSGRRYS LDHISKEERK SIRFSRSRSL ALNTVLTNGV SVEDNEVEEK AGMHASISLS
QIDPLSHGIG KLPFKTDTHG SPLRNSSASH PSIIHTEPET MPETFKENIQ EEILEAATSP
IEYQDKLYLH LRENLSKVKA YALEIAKKVP IPDQCTIEDT MRSCVAKLFF TCSLKGHYCL
YSKSSFILVS QAPQPWIQVM FLSQQSLFPE PLSIQSGSVQ FLKALWEKTQ DTGAHSFEVA
MTESTFPQQK DLEQLQLHLE EVRFFDVFGF SETAGAWQCF MCNNPEKATV VNQDGQPLIE
GKLKEKQVRW KFIKRWKTHY FTLAGNQLLF QKGKSKDDPD DSPIELSKVQ SVKAVAKKRR
DRSLPRAFEI FTDSKTYVFK AKDEKNAEEW LQCINVALAQ AKERESREVT TYL
