TM252_HUMAN
ID TM252_HUMAN Reviewed; 170 AA.
AC Q8N6L7;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Transmembrane protein 252;
GN Name=TMEM252; Synonyms=C9orf71;
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=Colon;
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 -!- INTERACTION:
CC Q8N6L7; P52954: LBX1; NbExp=3; IntAct=EBI-8787626, EBI-20141748;
CC Q8N6L7; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-8787626, EBI-18159983;
CC Q8N6L7; Q9BVK8: TMEM147; NbExp=3; IntAct=EBI-8787626, EBI-348587;
CC Q8N6L7; O95292: VAPB; NbExp=3; IntAct=EBI-8787626, EBI-1188298;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
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DR EMBL; AL353616; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029780; AAH29780.1; -; mRNA.
DR CCDS; CCDS35040.1; -.
DR RefSeq; NP_694969.1; NM_153237.1.
DR AlphaFoldDB; Q8N6L7; -.
DR BioGRID; 127986; 9.
DR IntAct; Q8N6L7; 8.
DR STRING; 9606.ENSP00000366528; -.
DR iPTMnet; Q8N6L7; -.
DR PhosphoSitePlus; Q8N6L7; -.
DR BioMuta; TMEM252; -.
DR DMDM; 68565213; -.
DR MassIVE; Q8N6L7; -.
DR PaxDb; Q8N6L7; -.
DR PeptideAtlas; Q8N6L7; -.
DR PRIDE; Q8N6L7; -.
DR ProteomicsDB; 72190; -.
DR Antibodypedia; 51987; 39 antibodies from 6 providers.
DR DNASU; 169693; -.
DR Ensembl; ENST00000377311.4; ENSP00000366528.4; ENSG00000181778.5.
DR GeneID; 169693; -.
DR KEGG; hsa:169693; -.
DR MANE-Select; ENST00000377311.4; ENSP00000366528.4; NM_153237.2; NP_694969.1.
DR UCSC; uc004agt.4; human.
DR CTD; 169693; -.
DR DisGeNET; 169693; -.
DR GeneCards; TMEM252; -.
DR HGNC; HGNC:28537; TMEM252.
DR HPA; ENSG00000181778; Group enriched (intestine, kidney).
DR neXtProt; NX_Q8N6L7; -.
DR OpenTargets; ENSG00000181778; -.
DR PharmGKB; PA134989660; -.
DR VEuPathDB; HostDB:ENSG00000181778; -.
DR eggNOG; ENOG502S6KQ; Eukaryota.
DR GeneTree; ENSGT00390000005250; -.
DR HOGENOM; CLU_117690_0_0_1; -.
DR InParanoid; Q8N6L7; -.
DR OMA; LYTEMGL; -.
DR OrthoDB; 1607376at2759; -.
DR PhylomeDB; Q8N6L7; -.
DR TreeFam; TF337811; -.
DR PathwayCommons; Q8N6L7; -.
DR SignaLink; Q8N6L7; -.
DR BioGRID-ORCS; 169693; 9 hits in 1066 CRISPR screens.
DR GenomeRNAi; 169693; -.
DR Pharos; Q8N6L7; Tdark.
DR PRO; PR:Q8N6L7; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8N6L7; protein.
DR Bgee; ENSG00000181778; Expressed in secondary oocyte and 94 other tissues.
DR Genevisible; Q8N6L7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR031363; TMEM252.
DR PANTHER; PTHR35682; PTHR35682; 1.
DR Pfam; PF15664; TMEM252; 1.
PE 1: Evidence at protein level;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..170
FT /note="Transmembrane protein 252"
FT /id="PRO_0000089707"
FT TRANSMEM 8..28
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 112..147
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 170 AA; 18703 MW; 403EC6D115C29B1C CRC64;
MQNRTGLILC ALALLMGFLM VCLGAFFISW GSIFDCQGSL IAAYLLLPLG FVILLSGIFW
SNYRQVTESK GVLRHMLRQH LAHGALPVAT VDRPDFYPPA YEESLEVEKQ SCPAEREASG
IPPPLYTETG LEFQDGNDSH PEAPPSYRES IAGLVVTAIS EDAQRRGQEC
