TMM94_MOUSE
ID TMM94_MOUSE Reviewed; 1360 AA.
AC Q7TSH8; B1AT99; Q80U66; Q8BL05; Q8K0Q0; Q91VY1;
DT 07-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Transmembrane protein 94 {ECO:0000250|UniProtKB:Q12767};
GN Name=Tmem94 {ECO:0000250|UniProtKB:Q12767}; Synonyms=Kiaa0195;
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 [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=12693553; DOI=10.1093/dnares/10.1.35;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S.,
RA Nakajima D., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: II.
RT The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:35-48(2003).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Brain, Colon, and Mammary tumor;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 548-1360.
RC STRAIN=C57BL/6J; TISSUE=Corpus striatum;
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-221 AND SER-225, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, Brown adipose tissue, Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP DISRUPTION PHENOTYPE.
RX PubMed=30526868; DOI=10.1016/j.ajhg.2018.11.001;
RG Undiagnosed Diseases Network members;
RA Stephen J., Maddirevula S., Nampoothiri S., Burke J.D., Herzog M.,
RA Shukla A., Steindl K., Eskin A., Patil S.J., Joset P., Lee H.,
RA Garrett L.J., Yokoyama T., Balanda N., Bodine S.P., Tolman N.J.,
RA Zerfas P.M., Zheng A., Ramantani G., Girisha K.M., Rivas C., Suresh P.V.,
RA Elkahloun A., Alsaif H.S., Wakil S.M., Mahmoud L., Ali R., Prochazkova M.,
RA Kulkarni A.B., Ben-Omran T., Colak D., Morris H.D., Rauch A.,
RA Martinez-Agosto J.A., Nelson S.F., Alkuraya F.S., Gahl W.A.,
RA Malicdan M.C.V.;
RT "Bi-allelic TMEM94 Truncating Variants Are Associated with
RT Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial
RT Dysmorphism.";
RL Am. J. Hum. Genet. 103:948-967(2018).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Deficient mice are embryonic lethal and exhibit
CC craniofacial defects, cardiac abnormalities, and abnormal neuronal
CC migration in the central nervous system. {ECO:0000269|PubMed:30526868}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC65499.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK122217; BAC65499.1; ALT_INIT; mRNA.
DR EMBL; AL645852; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC007157; AAH07157.1; -; mRNA.
DR EMBL; BC030865; AAH30865.1; -; mRNA.
DR EMBL; BC053088; AAH53088.1; -; mRNA.
DR EMBL; AK047622; BAC33103.1; -; mRNA.
DR CCDS; CCDS25646.1; -.
DR RefSeq; NP_082290.2; NM_028014.3.
DR RefSeq; XP_006534334.1; XM_006534271.1.
DR AlphaFoldDB; Q7TSH8; -.
DR BioGRID; 215048; 1.
DR IntAct; Q7TSH8; 2.
DR MINT; Q7TSH8; -.
DR STRING; 10090.ENSMUSP00000091440; -.
DR GlyGen; Q7TSH8; 6 sites.
DR iPTMnet; Q7TSH8; -.
DR PhosphoSitePlus; Q7TSH8; -.
DR EPD; Q7TSH8; -.
DR jPOST; Q7TSH8; -.
DR MaxQB; Q7TSH8; -.
DR PaxDb; Q7TSH8; -.
DR PRIDE; Q7TSH8; -.
DR ProteomicsDB; 259593; -.
DR Antibodypedia; 19552; 29 antibodies from 16 providers.
DR DNASU; 71947; -.
DR Ensembl; ENSMUST00000093912; ENSMUSP00000091440; ENSMUSG00000020747.
DR Ensembl; ENSMUST00000103033; ENSMUSP00000099322; ENSMUSG00000020747.
DR GeneID; 71947; -.
DR KEGG; mmu:71947; -.
DR UCSC; uc007mil.1; mouse.
DR CTD; 9772; -.
DR MGI; MGI:1919197; Tmem94.
DR VEuPathDB; HostDB:ENSMUSG00000020747; -.
DR eggNOG; KOG4383; Eukaryota.
DR GeneTree; ENSGT00390000016550; -.
DR HOGENOM; CLU_005325_0_0_1; -.
DR InParanoid; Q7TSH8; -.
DR OMA; YPHLCSP; -.
DR PhylomeDB; Q7TSH8; -.
DR TreeFam; TF314852; -.
DR BioGRID-ORCS; 71947; 3 hits in 42 CRISPR screens.
DR ChiTaRS; Tmem94; mouse.
DR PRO; PR:Q7TSH8; -.
DR Proteomes; UP000000589; Chromosome 11.
DR RNAct; Q7TSH8; protein.
DR Bgee; ENSMUSG00000020747; Expressed in embryonic brain and 200 other tissues.
DR ExpressionAtlas; Q7TSH8; baseline and differential.
DR Genevisible; Q7TSH8; MM.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR023298; ATPase_P-typ_TM_dom_sf.
DR InterPro; IPR039720; TMEM94.
DR PANTHER; PTHR13219; PTHR13219; 1.
DR SUPFAM; SSF81665; SSF81665; 1.
PE 1: Evidence at protein level;
KW Glycoprotein; Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1360
FT /note="Transmembrane protein 94"
FT /id="PRO_0000050732"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 94..114
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 274..294
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 321..341
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1097..1117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1125..1145
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1173..1193
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1233..1253
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1270..1290
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1311..1331
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 487..545
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 489..507
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 221
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 225
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 444
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 445
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 454
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 517
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 522
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 802
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT MOD_RES 945
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q12767"
FT CARBOHYD 479
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 520
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 599
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 759
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1206
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1209
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 1360 AA; 151796 MW; E526BD5111D0F73C CRC64;
MDLREKHLGE PPLALGLSTR KALSVLKEQL EAVLEKHLKE RKKSLTWKEA WRSSFLHLSN
RCSCFHWPGA SLMLLAVLLL LCCCGGQPAG SQGVELVNAS ALFLLLLLNL VLIGRQDRLK
RREVERRLRG IIDQIQDALR DGKEIKWPNS MYPDLHMPFA PSWSLHWAYR DGHLVNLPVS
LLVEGDIIAL RPGQESFASL RGIKDDEHIV LEPGDLFPPF SPPPSPRGEV KRGPQNPQQH
RLFRVLETPV IDNIRWCLDT ALSRPVTALD NERFTVQSVM LHYAVPVVLA GFLITNALRF
MFKAPGVTSW QYTLLQLQVN GMLPILPLLF PVLWVLATAC GEARVLAQMS KASPSSLLAK
FSEDTLSSYT EAVSSQEMLR CIWGHFLRVI QGTSPTLSHS ASLLHSLGSV TVLCCVDKQG
ILSWPNPSPE TVLFFSGKVE PPHSSHEDLT DDLSTRSFCH PEVEEEPHEH DALLAGSLNN
TLHLSNEQER SDWLADGPKP SEPYPHHKGH GRSKHPSGSN VSFSRDTEGG EEEPSKAQPG
TEGDPYEAED FVCDYHLEML SLSQDQQNPS CIQFDDSNWQ SHLTSLKPLG LNVLLNLCNA
SVTERLCRFS DHLCNIALQE SHSAVLPVHV PWGLCELARL IGFTPGAKEL FKQENHLALY
RLPSAETLKE TSLGRPSCVT KRRPPLSHMI SLFIKDTATS TEQMLSHGSA DVVVEACTDF
WDGADIYPLS GSDRKKVLDF YQRACLSGYC SAFAYKPMNC TLSSQLNGKC IELVQVPGQN
SIFTMCELPS TIPIKPNNRR SSWSSDEGIG EVLEKEDCMQ ALSGQIFMGM VSSQYQARLD
IVRLIDGLVN ACIRFVYFSL EDELRSKVFA EKMGLETGWN CHISLTPNGD MPGSEIPPSS
PSHAGSLHDD LNQVSRDDAE GLLLLEEEGH SDLISFQPTD SDIPSFLEDC NRAKLPRGIH
QVRPHLQNID NVPLLVPLFT DCTPDTMCEM IKIMQEYGEV TCCLGSSANL RNSCLFLQSD
VSIALDPLYP SRCSWETFGY ATSTTMAQAS DGLSPLQLSG QLNSLPCSLT FRQEESISII
RLIEQARHAT YGIRKCFLFL LQCQLTLVVI QFLSCLVQLP PLLSTTDILW LSCFCYPLLS
ISLLGKPPHS SIMSMATGKN LQSIPKKTQH YFLLCFLLKF SLTISSCLVC FGFTLQSFCD
SARARNLTNC SSVMLCSNDD RAPAWFEDFA NGLLSAQKLT AALIVLHTVF ISITHVHRTK
PLWRKSPLTN LWWAVTVPVV LLGQVVQTVV DLQLWTHRDS RVHFGLEDVP LLTWLLGCLS
LVLVVVTNEI VKLHEIRVRV RYQKRQKLQF ETKLGMNSPF
