TMM94_HUMAN
ID TMM94_HUMAN Reviewed; 1356 AA.
AC Q12767; C9JL75; O75536; Q86XF1;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1997, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Transmembrane protein 94 {ECO:0000312|HGNC:HGNC:28983};
GN Name=TMEM94 {ECO:0000312|HGNC:HGNC:28983}; Synonyms=KIAA0195;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Bone marrow;
RX PubMed=8724849; DOI=10.1093/dnares/3.1.17;
RA Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. V. The
RT coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of
RT cDNA clones from human cell line KG-1.";
RL DNA Res. 3:17-24(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [MRNA] OF 1155-1356 (ISOFORM 2).
RC TISSUE=Brain;
RA Andersson B., Wentland M.A., Ricafrente J.Y., Liu W., Gibbs R.A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-221 AND SER-225, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.m800588-mcp200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-513, AND IDENTIFICATION BY
RP 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 [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-445; SER-454 AND SER-798, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-225; SER-444; SER-518 AND
RP SER-941, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [10]
RP VARIANT IDDCDF 912-ARG--PHE-1356 DEL, AND INVOLVEMENT IN IDDCDF.
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q12767-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q12767-2; Sequence=VSP_011043;
CC Name=3;
CC IsoId=Q12767-3; Sequence=VSP_060138;
CC -!- TISSUE SPECIFICITY: Expressed ubiquitously.
CC {ECO:0000269|PubMed:8724849}.
CC -!- DISEASE: Intellectual developmental disorder with cardiac defects and
CC dysmorphic facies (IDDCDF) [MIM:618316]: An autosomal recessive
CC neurodevelopmental disorder characterized by global developmental
CC delay, intellectual disability, congenital heart malformations, and
CC facial dysmorphism. Dysmorphic features include triangular face, deep
CC set eyes, broad nasal root and tip and anteverted nostrils, thick
CC arched eye brows, hypertrichosis, pointed chin, and hypertelorism.
CC {ECO:0000269|PubMed:30526868}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA12108.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; D83779; BAA12108.2; ALT_INIT; mRNA.
DR EMBL; BC045540; AAH45540.1; -; mRNA.
DR EMBL; AC100787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF070545; AAC28636.1; -; mRNA.
DR CCDS; CCDS32732.1; -. [Q12767-1]
DR CCDS; CCDS82204.1; -. [Q12767-3]
DR RefSeq; NP_001308077.1; NM_001321148.1. [Q12767-3]
DR RefSeq; NP_001308078.1; NM_001321149.1.
DR RefSeq; NP_055553.3; NM_014738.5. [Q12767-1]
DR AlphaFoldDB; Q12767; -.
DR BioGRID; 115117; 28.
DR IntAct; Q12767; 15.
DR MINT; Q12767; -.
DR STRING; 9606.ENSP00000313885; -.
DR TCDB; 3.A.3.2.47; the p-type atpase (p-atpase) superfamily.
DR GlyGen; Q12767; 4 sites.
DR iPTMnet; Q12767; -.
DR PhosphoSitePlus; Q12767; -.
DR BioMuta; TMEM94; -.
DR DMDM; 2495718; -.
DR EPD; Q12767; -.
DR jPOST; Q12767; -.
DR MassIVE; Q12767; -.
DR MaxQB; Q12767; -.
DR PaxDb; Q12767; -.
DR PeptideAtlas; Q12767; -.
DR PRIDE; Q12767; -.
DR ProteomicsDB; 10665; -.
DR ProteomicsDB; 58909; -. [Q12767-1]
DR ProteomicsDB; 58910; -. [Q12767-2]
DR Antibodypedia; 19552; 29 antibodies from 16 providers.
DR DNASU; 9772; -.
DR Ensembl; ENST00000314256.12; ENSP00000313885.7; ENSG00000177728.17. [Q12767-1]
DR Ensembl; ENST00000375248.9; ENSP00000364397.5; ENSG00000177728.17. [Q12767-3]
DR GeneID; 9772; -.
DR KEGG; hsa:9772; -.
DR MANE-Select; ENST00000314256.12; ENSP00000313885.7; NM_014738.6; NP_055553.3.
DR UCSC; uc002jnz.5; human. [Q12767-1]
DR CTD; 9772; -.
DR DisGeNET; 9772; -.
DR GeneCards; TMEM94; -.
DR HGNC; HGNC:28983; TMEM94.
DR HPA; ENSG00000177728; Low tissue specificity.
DR MalaCards; TMEM94; -.
DR MIM; 618163; gene.
DR MIM; 618316; phenotype.
DR neXtProt; NX_Q12767; -.
DR OpenTargets; ENSG00000177728; -.
DR Orphanet; 562569; TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome.
DR PharmGKB; PA142671623; -.
DR VEuPathDB; HostDB:ENSG00000177728; -.
DR eggNOG; KOG4383; Eukaryota.
DR GeneTree; ENSGT00390000016550; -.
DR InParanoid; Q12767; -.
DR OMA; YPHLCSP; -.
DR OrthoDB; 97547at2759; -.
DR PhylomeDB; Q12767; -.
DR TreeFam; TF314852; -.
DR PathwayCommons; Q12767; -.
DR SignaLink; Q12767; -.
DR BioGRID-ORCS; 9772; 26 hits in 1076 CRISPR screens.
DR ChiTaRS; TMEM94; human.
DR GenomeRNAi; 9772; -.
DR Pharos; Q12767; Tdark.
DR PRO; PR:Q12767; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q12767; protein.
DR Bgee; ENSG00000177728; Expressed in right hemisphere of cerebellum and 104 other tissues.
DR ExpressionAtlas; Q12767; baseline and differential.
DR Genevisible; Q12767; HS.
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 Alternative splicing; Glycoprotein; Intellectual disability; Membrane;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..1356
FT /note="Transmembrane protein 94"
FT /id="PRO_0000050731"
FT TRANSMEM 65..85
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 93..113
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 1093..1113
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1121..1141
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1168..1188
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1229..1249
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1262..1282
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1307..1327
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 439..461
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 483..541
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 485..503
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:18691976"
FT MOD_RES 225
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976,
FT ECO:0007744|PubMed:19369195, ECO:0007744|PubMed:24275569"
FT MOD_RES 444
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 445
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 454
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 513
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 518
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 798
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 941
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT CARBOHYD 475
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 516
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1202
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1205
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..9
FT /note="MDLKEKHLG -> MLFKQAELWMPHQGKGNKG (in isoform 3)"
FT /id="VSP_060138"
FT VAR_SEQ 1244
FT /note="T -> TGERAPWEGVDDGGKGAPLWKSDPHIAPPSP (in isoform 2)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_011043"
FT VARIANT 912..1356
FT /note="Missing (in IDDCDF)"
FT /evidence="ECO:0000269|PubMed:30526868"
FT /id="VAR_081637"
FT VARIANT 1040
FT /note="I -> T (in dbSNP:rs8073809)"
FT /id="VAR_019508"
FT CONFLICT 203
FT /note="I -> M (in Ref. 3; AAH45540)"
FT /evidence="ECO:0000305"
FT CONFLICT 991
FT /note="Q -> L (in Ref. 3; AAH45540)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1356 AA; 151151 MW; 9DC0188CEE81F494 CRC64;
MDLKEKHLGE PPSALGLSTR KALSVLKEQL EAVLEGHLRE RKKCLTWKEV WRSSFLHHSN
RCSCFHWPGA SLMLLAVLLL LGCCGGQPAG SRGVGLVNAS ALFLLLLLNL VLIGRQDRLK
RREVERRLRG IIDQIQDALR DGREIQWPSA MYPDLHMPFA PSWSLHWAYR DGHLVNLPVS
LLVEGDIIAL RPGQESFASL RGIKDDEHIV LEPGDLFPPF SPPPSPRGEV ERGPQSPQQH
RLFRVLETPV IDNIRWCLDM ALSRPVTALD NERFTVQSVM LHYAVPVVLA GFLITNALRF
IFSAPGVTSW QYTLLQLQVN GVLPILPLLF PVLWVLATAC GEARVLAQMS KASPSSLLAK
FSEDTLSSYT EAVSSQEMLR CIWGHFLRVL GGTSPTLSHS SSLLHSLGSV TVLCCVDKQG
ILSWPNPSPE TVLFFSGKVE PPHSSHEDLT DGLSTRSFCH PEPHERDALL AGSLNNTLHL
SNEQERGDWP GEAPKPPEPY SHHKAHGRSK HPSGSNVSFS RDTEGGEEEP SKTQPGMESD
PYEAEDFVCD YHLEMLSLSQ DQQNPSCIQF DDSNWQLHLT SLKPLGLNVL LNLCDASVTE
RLCRFSDHLC NIALQESHSA VLPVHVPWGL CELARLIGFT PGAKELFKQE NHLALYRLPS
AETMKETSLG RLSCVTKRRP PLSHMISLFI KDTTTSTEQM LSHGTADVVL EACTDFWDGA
DIYPLSGSDR KKVLDFYQRA CLSGYCSAFA YKPMNCALSS QLNGKCIELV QVPGQSSIFT
MCELPSTIPI KQNARRSSWS SDEGIGEVLE KEDCMQALSG QIFMGMVSSQ YQARLDIVRL
IDGLVNACIR FVYFSLEDEL KSKVFAEKMG LETGWNCHIS LTPNGDMPGS EIPPSSPSHA
GSLHDDLNQV SRDDAEGLLL MEEEGHSDLI SFQPTDSDIP SFLEDSNRAK LPRGIHQVRP
HLQNIDNVPL LVPLFTDCTP ETMCEMIKIM QEYGEVTCCL GSSANLRNSC LFLQSDISIA
LDPLYPSRCS WETFGYATSI SMAQASDGLS PLQLSGQLNS LPCSLTFRQE ETISIIRLIE
QARHATYGIR KCFLFLLQCQ LTLVVIQFLS CLVQLPPLLS TTDILWLSCF CYPLLSISLL
GKPPHSSIMS MATGKNLQSI PKKTQHYFLL CFLLKFSLTI SSCLICFGFT LQSFCDSSRD
RNLTNCSSVM LPSNDDRAPA WFEDFANGLL SAQKLTAALI VLHTVFISIT HVHRTKPLWR
KSPLTNLWWA VTVPVVLLGQ VVQTAVDLQL WTHRDSHVHF GLEDVPLLTW LLGCLSLVLV
VVTNEIVKLH EIRVRVRYQK RQKLQFETKL GMNSPF
