TM260_HUMAN
ID TM260_HUMAN Reviewed; 707 AA.
AC Q9NX78; A8KAN4; B3KPF5; Q0VAA1; Q86XE1;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Transmembrane protein 260;
GN Name=TMEM260; Synonyms=C14orf101;
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).
RC TISSUE=Ileal mucosa, and Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP SER-245.
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 TISSUE SPECIFICITY (ISOFORMS 1 AND 3), SUBCELLULAR LOCATION (ISOFORMS 1 AND
RP 3), INVOLVEMENT IN SHDRA, VARIANT SHDRA 465-GLN--VAL-707 DEL, AND
RP CHARACTERIZATION OF VARIANT SHDRA 465-GLN--VAL-707 DEL.
RX PubMed=28318500; DOI=10.1016/j.ajhg.2017.02.007;
RA Ta-Shma A., Khan T.N., Vivante A., Willer J.R., Matak P., Jalas C.,
RA Pode-Shakked B., Salem Y., Anikster Y., Hildebrandt F., Katsanis N.,
RA Elpeleg O., Davis E.E.;
RT "Mutations in TMEM260 cause a pediatric neurodevelopmental, cardiac, and
RT renal syndrome.";
RL Am. J. Hum. Genet. 100:666-675(2017).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Membrane
CC {ECO:0000269|PubMed:28318500}. Note=Shows strong localization in the
CC vicinity of the cell membrane. {ECO:0000269|PubMed:28318500}.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Membrane
CC {ECO:0000269|PubMed:28318500}. Note=Shows perinuclear localization.
CC {ECO:0000269|PubMed:28318500}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Comment=Additional isoforms seem to exist.;
CC Name=1; Synonyms=Long;
CC IsoId=Q9NX78-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NX78-2; Sequence=VSP_008621;
CC Name=3; Synonyms=Short;
CC IsoId=Q9NX78-3; Sequence=VSP_058993, VSP_058994;
CC -!- TISSUE SPECIFICITY: Isoform 1 and isoform 3 are expressed in brain,
CC heart, kidney, liver, lung, pancreas and placenta but are not detected
CC in skeletal muscle. {ECO:0000269|PubMed:28318500}.
CC -!- DISEASE: Structural heart defects and renal anomalies syndrome (SHDRA)
CC [MIM:617478]: An autosomal recessive syndrome characterized by central
CC nervous system, cardiac, renal, and digit abnormalities. Clinical
CC features include ventricular and atrial septal defects, truncus
CC arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous
CC return, renal cysts, renal failure, and generalized edema. Some
CC patients show partial agenesis of corpus callosum.
CC {ECO:0000269|PubMed:28318500}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM260 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91139.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BC045556; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK000399; BAA91139.1; ALT_INIT; mRNA.
DR EMBL; AK293099; BAF85788.1; -; mRNA.
DR EMBL; AK056291; BAG51667.1; -; mRNA.
DR EMBL; AL161757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL355103; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359234; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF455900; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC045556; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC121163; AAI21164.1; -; mRNA.
DR CCDS; CCDS9727.2; -. [Q9NX78-1]
DR RefSeq; NP_060269.3; NM_017799.3. [Q9NX78-1]
DR AlphaFoldDB; Q9NX78; -.
DR SMR; Q9NX78; -.
DR BioGRID; 120258; 10.
DR IntAct; Q9NX78; 6.
DR STRING; 9606.ENSP00000261556; -.
DR GlyGen; Q9NX78; 1 site.
DR iPTMnet; Q9NX78; -.
DR PhosphoSitePlus; Q9NX78; -.
DR BioMuta; TMEM260; -.
DR DMDM; 296439393; -.
DR EPD; Q9NX78; -.
DR jPOST; Q9NX78; -.
DR MassIVE; Q9NX78; -.
DR MaxQB; Q9NX78; -.
DR PaxDb; Q9NX78; -.
DR PeptideAtlas; Q9NX78; -.
DR PRIDE; Q9NX78; -.
DR ProteomicsDB; 58786; -.
DR ProteomicsDB; 83054; -. [Q9NX78-1]
DR ProteomicsDB; 83055; -. [Q9NX78-2]
DR Antibodypedia; 185; 46 antibodies from 17 providers.
DR DNASU; 54916; -.
DR Ensembl; ENST00000261556.11; ENSP00000261556.6; ENSG00000070269.14. [Q9NX78-1]
DR Ensembl; ENST00000538838.5; ENSP00000441934.1; ENSG00000070269.14. [Q9NX78-3]
DR GeneID; 54916; -.
DR KEGG; hsa:54916; -.
DR MANE-Select; ENST00000261556.11; ENSP00000261556.6; NM_017799.4; NP_060269.3.
DR UCSC; uc001xcm.4; human. [Q9NX78-1]
DR UCSC; uc059bva.1; human.
DR CTD; 54916; -.
DR DisGeNET; 54916; -.
DR GeneCards; TMEM260; -.
DR HGNC; HGNC:20185; TMEM260.
DR HPA; ENSG00000070269; Tissue enhanced (cervix).
DR MalaCards; TMEM260; -.
DR MIM; 617449; gene.
DR MIM; 617478; phenotype.
DR neXtProt; NX_Q9NX78; -.
DR OpenTargets; ENSG00000070269; -.
DR PharmGKB; PA134894829; -.
DR VEuPathDB; HostDB:ENSG00000070269; -.
DR eggNOG; ENOG502QSIA; Eukaryota.
DR GeneTree; ENSGT00390000013544; -.
DR HOGENOM; CLU_019631_1_0_1; -.
DR InParanoid; Q9NX78; -.
DR OMA; KAPNDPQ; -.
DR PhylomeDB; Q9NX78; -.
DR TreeFam; TF329604; -.
DR PathwayCommons; Q9NX78; -.
DR SignaLink; Q9NX78; -.
DR BioGRID-ORCS; 54916; 11 hits in 1084 CRISPR screens.
DR ChiTaRS; TMEM260; human.
DR GenomeRNAi; 54916; -.
DR Pharos; Q9NX78; Tdark.
DR PRO; PR:Q9NX78; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9NX78; protein.
DR Bgee; ENSG00000070269; Expressed in corpus epididymis and 185 other tissues.
DR ExpressionAtlas; Q9NX78; baseline and differential.
DR Genevisible; Q9NX78; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR021280; DUF2723.
DR Pfam; PF11028; DUF2723; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..707
FT /note="Transmembrane protein 260"
FT /id="PRO_0000089905"
FT TRANSMEM 28..48
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 71..91
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 94..114
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 141..161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 189..209
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 222..242
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 318..338
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 356..376
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 287..707
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_008621"
FT VAR_SEQ 409
FT /note="S -> R (in isoform 3)"
FT /evidence="ECO:0000305|PubMed:15489334"
FT /id="VSP_058993"
FT VAR_SEQ 410..707
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305|PubMed:15489334"
FT /id="VSP_058994"
FT VARIANT 245
FT /note="A -> S (in dbSNP:rs17776256)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_057823"
FT VARIANT 465..707
FT /note="Missing (in SHDRA; reduced expression of isoform 1
FT due to nonsense-mediated decay in patient-derived cells)"
FT /evidence="ECO:0000269|PubMed:28318500"
FT /id="VAR_078766"
FT VARIANT 565
FT /note="S -> N (in dbSNP:rs1041316)"
FT /id="VAR_057824"
FT CONFLICT 3
FT /note="P -> H (in Ref. 3; BC045556)"
FT /evidence="ECO:0000305"
FT CONFLICT 57
FT /note="I -> T (in Ref. 1; BAF85788)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="F -> V (in Ref. 1; BAA91139)"
FT /evidence="ECO:0000305"
FT CONFLICT 680
FT /note="N -> S (in Ref. 1; BAF85788/BAG51667)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 707 AA; 79536 MW; F3EAB7ED42B77489 CRC64;
MSPHGDGRGQ AQGRAVRVGL RRSGGIRGGV AVFAAVAAVF TFTLPPSVPG GDSGELITAA
HELGVAHPPG YPLFTLVAKL AITLFPFGSI AYRVNLLCGL FGAVAASLLF FTVFRLSGSS
AGGILAAGVF SFSRLTWQWS IAAEVFSLNN LFVGLLMALT VHFEEAATAK ERSKVAKIGA
FCCGLSLCNQ HTIILYVLCI IPWILFQLLK KKELSLGSLL KLSLYFSAGL LPYVHLPISS
YLNHARWTWG DQTTLQGFLT HFLREEYGTF SLAKSEIGSS MSEILLSQVT NMRTELSFNI
QALAVCANIC LATKDRQNPS LVWLFTGMFC IYSLFFAWRA NLDISKPLFM GVVERFWMQS
NAVVAVLAGI GLAAVVSETN RVLNSNGLQC LEWLSATLFV VYQIYSNYSV CDQRTNYVID
KFAKNLLTSM PHDAIILLRG DLPGNSLRYM HYCEGLRPDI SLVDQEMMTY EWYLPKMAKH
LPGVNFPGNR WNPVEGILPS GMVTFNLYHF LEVNKQKETF VCIGIHEGDP TWKKNYSLWP
WGSCDKLVPL EIVFNPEEWI KLTKSIYNWT EEYGRFDPSS WESVANEEMW QARMKTPFFI
FNLAETAHMP SKVKAQLYAQ AYDLYKEIVY LQKEHPVNWH KNYAIACERM LRLQARDADP
EVLLSETIRH FRLYSQKAPN DPQQADILGA LKHLRKELQS LRNRKNV
