TM240_HUMAN
ID TM240_HUMAN Reviewed; 173 AA.
AC Q5SV17; B9EJG7;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JUN-2008, sequence version 2.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Transmembrane protein 240;
GN Name=TMEM240; Synonyms=C1orf70;
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 GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 INVOLVEMENT IN SCA21, AND VARIANTS SCA21 MET-80; CYS-116; LYS-149; LEU-170
RP AND TRP-171.
RX PubMed=25070513; DOI=10.1093/brain/awu202;
RA Delplanque J., Devos D., Huin V., Genet A., Sand O., Moreau C., Goizet C.,
RA Charles P., Anheim M., Monin M.L., Buee L., Destee A., Grolez G.,
RA Delmaire C., Dujardin K., Dellacherie D., Brice A., Stevanin G.,
RA Strubi-Vuillaume I., Duerr A., Sablonniere B.;
RT "TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation
RT and severe cognitive impairment.";
RL Brain 137:2657-2663(2014).
RN [4]
RP VARIANT SCA21 MET-80.
RX PubMed=29053796; DOI=10.1093/brain/awx251;
RA Nibbeling E.A.R., Duarri A., Verschuuren-Bemelmans C.C., Fokkens M.R.,
RA Karjalainen J.M., Smeets C.J.L.M., de Boer-Bergsma J.J., van der Vries G.,
RA Dooijes D., Bampi G.B., van Diemen C., Brunt E., Ippel E., Kremer B.,
RA Vlak M., Adir N., Wijmenga C., van de Warrenburg B.P.C., Franke L.,
RA Sinke R.J., Verbeek D.S.;
RT "Exome sequencing and network analysis identifies shared mechanisms
RT underlying spinocerebellar ataxia.";
RL Brain 140:2860-2878(2017).
CC -!- SUBCELLULAR LOCATION: Synapse {ECO:0000250|UniProtKB:B2RWJ3}. Cell
CC membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
CC -!- DISEASE: Spinocerebellar ataxia 21 (SCA21) [MIM:607454]: A form of
CC spinocerebellar ataxia, a clinically and genetically heterogeneous
CC group of cerebellar disorders. Patients show progressive incoordination
CC of gait and often poor coordination of hands, speech and eye movements,
CC due to degeneration of the cerebellum with variable involvement of the
CC brainstem and spinal cord. SCA21 is characterized by onset in the first
CC decades of life of slowly progressive relatively mild cerebellar ataxia
CC associated with slight extrapyramidal features predominant in older
CC patients and cognitive impairment predominant in younger patients.
CC {ECO:0000269|PubMed:25070513, ECO:0000269|PubMed:29053796}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the TMEM240 family. {ECO:0000305}.
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DR EMBL; AL645728; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC147018; AAI47019.1; -; mRNA.
DR EMBL; BC147020; AAI47021.1; -; mRNA.
DR CCDS; CCDS44040.1; -.
DR RefSeq; NP_001108220.1; NM_001114748.1.
DR AlphaFoldDB; Q5SV17; -.
DR STRING; 9606.ENSP00000368007; -.
DR iPTMnet; Q5SV17; -.
DR PhosphoSitePlus; Q5SV17; -.
DR BioMuta; TMEM240; -.
DR DMDM; 190358728; -.
DR MassIVE; Q5SV17; -.
DR PaxDb; Q5SV17; -.
DR PeptideAtlas; Q5SV17; -.
DR PRIDE; Q5SV17; -.
DR ProteomicsDB; 63928; -.
DR Antibodypedia; 77999; 39 antibodies from 10 providers.
DR DNASU; 339453; -.
DR Ensembl; ENST00000378733.9; ENSP00000368007.4; ENSG00000205090.9.
DR Ensembl; ENST00000425828.1; ENSP00000400311.1; ENSG00000205090.9.
DR GeneID; 339453; -.
DR KEGG; hsa:339453; -.
DR MANE-Select; ENST00000378733.9; ENSP00000368007.4; NM_001114748.2; NP_001108220.1.
DR UCSC; uc009vkf.4; human.
DR CTD; 339453; -.
DR DisGeNET; 339453; -.
DR GeneCards; TMEM240; -.
DR HGNC; HGNC:25186; TMEM240.
DR HPA; ENSG00000205090; Low tissue specificity.
DR MalaCards; TMEM240; -.
DR MIM; 607454; phenotype.
DR MIM; 616101; gene.
DR neXtProt; NX_Q5SV17; -.
DR OpenTargets; ENSG00000205090; -.
DR Orphanet; 98773; Spinocerebellar ataxia type 21.
DR PharmGKB; PA142672520; -.
DR VEuPathDB; HostDB:ENSG00000205090; -.
DR eggNOG; ENOG502QWKH; Eukaryota.
DR GeneTree; ENSGT00400000023987; -.
DR HOGENOM; CLU_145117_0_0_1; -.
DR InParanoid; Q5SV17; -.
DR OMA; AVACLMD; -.
DR OrthoDB; 1310776at2759; -.
DR PhylomeDB; Q5SV17; -.
DR PathwayCommons; Q5SV17; -.
DR BioGRID-ORCS; 339453; 91 hits in 1068 CRISPR screens.
DR GenomeRNAi; 339453; -.
DR Pharos; Q5SV17; Tdark.
DR PRO; PR:Q5SV17; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5SV17; protein.
DR Bgee; ENSG00000205090; Expressed in right hemisphere of cerebellum and 90 other tissues.
DR ExpressionAtlas; Q5SV17; baseline and differential.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0097060; C:synaptic membrane; ISS:UniProtKB.
DR InterPro; IPR027947; TMEM240.
DR PANTHER; PTHR28666; PTHR28666; 1.
DR Pfam; PF15207; TMEM240; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Disease variant; Intellectual disability; Membrane;
KW Neurodegeneration; Phosphoprotein; Reference proteome;
KW Spinocerebellar ataxia; Synapse; Transmembrane; Transmembrane helix.
FT CHAIN 1..173
FT /note="Transmembrane protein 240"
FT /id="PRO_0000340728"
FT TRANSMEM 5..25
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 90..110
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 169
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:B2RWJ3"
FT VARIANT 80
FT /note="T -> M (in SCA21; dbSNP:rs606231454)"
FT /evidence="ECO:0000269|PubMed:25070513,
FT ECO:0000269|PubMed:29053796"
FT /id="VAR_071906"
FT VARIANT 116
FT /note="R -> C (in SCA21; dbSNP:rs606231453)"
FT /evidence="ECO:0000269|PubMed:25070513"
FT /id="VAR_071907"
FT VARIANT 149
FT /note="E -> K (in SCA21; dbSNP:rs546291208)"
FT /evidence="ECO:0000269|PubMed:25070513"
FT /id="VAR_071908"
FT VARIANT 170
FT /note="P -> L (in SCA21; dbSNP:rs606231451)"
FT /evidence="ECO:0000269|PubMed:25070513"
FT /id="VAR_071909"
FT VARIANT 171
FT /note="R -> W (in SCA21; dbSNP:rs606231455)"
FT /evidence="ECO:0000269|PubMed:25070513"
FT /id="VAR_071910"
SQ SEQUENCE 173 AA; 19908 MW; 20776325E5654B12 CRC64;
MSMSANTMIF MILGASVVMA IACLMDMNAL LDRFHNYILP HLRGEDRVCH CNCGRHHIHY
VIPYDGDQSV VDASENYFVT DSVTKQEIDL MLGLLLGFCI SWFLVWMDGV LHCAVRAWRA
GRRYDGSWTW LPKLCSLREL GRRPHRPFEE AAGNMVHVKQ KLYHNGHPSP RHL
