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TM250_HUMAN
ID   TM250_HUMAN             Reviewed;         139 AA.
AC   H0YL14;
DT   06-FEB-2013, integrated into UniProtKB/Swiss-Prot.
DT   18-APR-2012, sequence version 2.
DT   03-AUG-2022, entry version 69.
DE   RecName: Full=Transmembrane protein 250 {ECO:0000312|HGNC:HGNC:31009};
DE   AltName: Full=Herpes virus UL25-binding protein {ECO:0000303|PubMed:21667337};
GN   Name=TMEM250 {ECO:0000312|HGNC:HGNC:31009}; Synonyms=C9orf69;
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=15164053; DOI=10.1038/nature02465;
RA   Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA   Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA   Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA   Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA   Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA   Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA   Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA   Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA   Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA   Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA   Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA   Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA   Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA   Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA   Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA   Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA   McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA   Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA   Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA   Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA   Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA   West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA   Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA   Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA   Dunham I.;
RT   "DNA sequence and analysis of human chromosome 9.";
RL   Nature 429:369-374(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
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   FUNCTION, FUNCTION (MICROBIAL INFECTION), INTERACTION WITH HHV-1 PROTEIN
RP   UL25 (MICROBIAL INFECTION), INDUCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=21667337; DOI=10.1007/s12250-011-3179-8;
RA   Zhang Y., Li Y.M., Liu L.D., Jiang L., Ji M., Jiang R.J., Guo L., Liao Y.,
RA   Li Q.H.;
RT   "Host cell protein C9orf69 promotes viral proliferation via interaction
RT   with HSV-1 UL25 protein.";
RL   Zhongguo Bing Du Xue 26:171-180(2011).
CC   -!- FUNCTION: May play a role in cell proliferation by promoting
CC       progression into S phase. {ECO:0000269|PubMed:21667337}.
CC   -!- FUNCTION: (Microbial infection) Promotes human herpes simplex virus
CC       1/HHV-1 proliferation. {ECO:0000269|PubMed:21667337}.
CC   -!- SUBUNIT: (Microbial infection) Interacts with herpes simplex virus
CC       1/HHV-1 protein CVC2/UL25. {ECO:0000269|PubMed:21667337}.
CC   -!- INTERACTION:
CC       H0YL14; D3YP88: UL25; Xeno; NbExp=3; IntAct=EBI-6399705, EBI-6449813;
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:21667337}. Cytoplasm
CC       {ECO:0000269|PubMed:21667337}. Note=Upon HHV-1 infection, accumulates
CC       arround the nuclear membrane and translocates into the nucleus.
CC   -!- INDUCTION: Up-regulated upon HHV-1 infection.
CC       {ECO:0000269|PubMed:21667337}.
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DR   EMBL; AL138781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC014304; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS59155.1; -.
DR   RefSeq; NP_001243455.1; NM_001256526.1.
DR   RefSeq; NP_690046.3; NM_152833.2.
DR   AlphaFoldDB; H0YL14; -.
DR   BioGRID; 124664; 1.
DR   IntAct; H0YL14; 2.
DR   STRING; 9606.ENSP00000453019; -.
DR   BioMuta; TMEM250; -.
DR   jPOST; H0YL14; -.
DR   MassIVE; H0YL14; -.
DR   MaxQB; H0YL14; -.
DR   PaxDb; H0YL14; -.
DR   PeptideAtlas; H0YL14; -.
DR   PRIDE; H0YL14; -.
DR   ProteomicsDB; 39818; -.
DR   Antibodypedia; 76948; 4 antibodies from 4 providers.
DR   DNASU; 90120; -.
DR   Ensembl; ENST00000418388.6; ENSP00000453019.1; ENSG00000238227.8.
DR   Ensembl; ENST00000557985.2; ENSP00000457272.1; ENSG00000238227.8.
DR   Ensembl; ENST00000561457.2; ENSP00000452750.2; ENSG00000238227.8.
DR   GeneID; 90120; -.
DR   KEGG; hsa:90120; -.
DR   MANE-Select; ENST00000418388.6; ENSP00000453019.1; NM_152833.3; NP_690046.3.
DR   UCSC; uc004cgx.6; human.
DR   CTD; 90120; -.
DR   GeneCards; TMEM250; -.
DR   HGNC; HGNC:31009; TMEM250.
DR   HPA; ENSG00000238227; Low tissue specificity.
DR   neXtProt; NX_H0YL14; -.
DR   OpenTargets; ENSG00000238227; -.
DR   VEuPathDB; HostDB:ENSG00000238227; -.
DR   eggNOG; KOG2655; Eukaryota.
DR   GeneTree; ENSGT00560000078707; -.
DR   HOGENOM; CLU_1844448_0_0_1; -.
DR   InParanoid; H0YL14; -.
DR   OMA; HVTMFLV; -.
DR   OrthoDB; 1491213at2759; -.
DR   PathwayCommons; H0YL14; -.
DR   SignaLink; H0YL14; -.
DR   BioGRID-ORCS; 90120; 8 hits in 1057 CRISPR screens.
DR   ChiTaRS; C9orf69; human.
DR   GenomeRNAi; 90120; -.
DR   Pharos; H0YL14; Tdark.
DR   PRO; PR:H0YL14; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; H0YL14; protein.
DR   Bgee; ENSG00000238227; Expressed in granulocyte and 153 other tissues.
DR   ExpressionAtlas; H0YL14; baseline and differential.
DR   Genevisible; H0YL14; HS.
DR   GO; GO:0032153; C:cell division site; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0031105; C:septin complex; IBA:GO_Central.
DR   GO; GO:0005940; C:septin ring; IBA:GO_Central.
DR   GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR   GO; GO:0060090; F:molecular adaptor activity; IBA:GO_Central.
DR   GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR   GO; GO:0061640; P:cytoskeleton-dependent cytokinesis; IBA:GO_Central.
DR   GO; GO:0008284; P:positive regulation of cell population proliferation; IDA:UniProtKB.
DR   GO; GO:0048524; P:positive regulation of viral process; IDA:UniProtKB.
DR   GO; GO:0008104; P:protein localization; IBA:GO_Central.
DR   InterPro; IPR041156; DUF5533.
DR   PANTHER; PTHR18884:SF108; PTHR18884:SF108; 1.
DR   Pfam; PF17685; DUF5533; 1.
PE   1: Evidence at protein level;
KW   Cell cycle; Cytoplasm; Host-virus interaction; Membrane; Nucleus;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..139
FT                   /note="Transmembrane protein 250"
FT                   /id="PRO_0000420906"
FT   TRANSMEM        56..76
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        116..136
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
SQ   SEQUENCE   139 AA;  16083 MW;  482DDEB661FD9A72 CRC64;
     MPVMPIPRRV RSFHGPHTTC LHAACGPVRA SHLARTKYNN FDVYIKTRWL YGFIRFLLYF
     SCSLFTAALW GALAALFCLQ YLGVRVLLRF QRKLSVLLLL LGRRRVDFRL VNELLVYGIH
     VTMLLVGGLG WCFMVFVDM
 
 
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