Type | Description |
---|---|
Definition | transmembrane protein 138 |
Date | Results | Publications |
---|---|---|
2017-05-13 22:07:00 | Here we present clinical and molecular characterization of the case of an Emirati boy with Joubert syndrome, probably resulting from a splice-site mutation in TMEM138 | 28102635 |
2012-03-17 11:44:00 | study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region | 22282472 |
Type | IDs |
---|---|
Synonymous | HSPC196 |
Gene |
UniProtKB-ID:
TM138_HUMAN,
J3QSZ6_HUMAN
UniprotKB:
Q9NPI0,
J3QSZ6
UniParc:
UPI0000D472A8,
UPI000204ADA7,
UPI0000037795,
UPI00005A71AA
EMBL:
AP003108,
AF151030,
AF151032,
AK303219,
BC005201,
AL832879
Ensembl:
ENSG00000149483
KO:
hsa:51524
|
Nucleutide sequences |
EMBL-CDS:
AAF36116.1,
CAI46174.1,
AAH05201.1,
AAF36118.1,
BAG64306.1
Gene_ORFName:
HSPC196,
HSPC198
Ensembl_TRS:
ENST00000278826,
ENST00000542946,
ENST00000381787
|
Protein sequencees |
Ensembl_PRO:
ENSP00000445792,
ENSP00000278826,
ENSP00000371206
RefSeq:
XP_006718648.1,
XP_011543400.1,
XP_011543402.1,
NP_057548.1,
XP_011543401.1,
XP_016873406.1,
XP_006718649.1,
NP_001317210.1
|
Others |
UniRef100:
UniRef100_Q9NPI0
UniRef90:
UniRef90_Q9NPI0
UniRef50:
UniRef50_Q9NPI0
UniGene:
Hs.406530
CCDS:
CCDS8005.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
暂无数据
Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
---|---|---|---|
28102635 |
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome. Pediatr Int Sami Bizzari , Abdul Rezzak Hamzeh , Pratibha Nair , Madiha Mohamed , Fatma Bastaki |
2017-01-01 | - |
26638075 |
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell Gagan D Gupta , Ãtienne Coyaud , João Gonçalves , Bahareh A Mojarad , Yi Liu , Qianzhu Wu , Ladan Gheiratmand , David Comartin , Johnny M Tkach , Sally W T Cheung , Mikhail Bashkurov , Monica Hasegan , James D Knight , Zhen-Yuan Lin , Markus Schueler , Friedhelm Hildebrandt , Jason Moffat , Anne-Claude Gingras , Brian Raught , Laurence Pelletier |
2015-12-03 |
TANK,
SRA1,
LOC100129118,
TROAP,
PIGK,
WASH1,
DNAJB6,
LOC100506055,
TMEM35B,
OCLN,
LOC100507703,
ERVK3-1,
RBM14-RBM4,
COMMD3-BMI1,
UBA2,
SAE1,
ABCC5,
TIMM23B,
SCAMP2,
SCAMP3,
ARPC3,
ACTR3,
ACTR2,
NUBP2,
TSFM,
RAD50,
KIF20A,
PREB,
ACTR1B,
ACTR1A,
PDIA6,
BCAP31,
SUGP2,
CEBPZ,
ATP6AP2,
LPCAT3,
WASF2,
CDK2,
TENM1,
TXNDC9,
CDK4,
ALG3,
PRMT3,
PSME3,
MPHOSPH9,
CDK5,
TRIM13,
FLOT1,
PSMD14,
MFSD10,
STX6,
DCAF7,
STAM2,
ZMPSTE24,
STUB1,
SIGMAR1,
BET1,
DNAJA2,
PAK4,
KATNB1,
RTN3,
TNIP1,
EMC8,
CNPY2,
TFG,
TUBA1B,
TUBB4A,
TUBB4B,
NDRG1,
NDC80,
NSA2,
PGRMC2,
TUBGCP3,
SEC24B,
EMG1,
MCRS1,
TAB1,
BAIAP2,
PIBF1,
PPIH,
ZNHIT1,
PFDN6,
CLGN,
SLC25A17,
NXF1,
SEC23B,
SEC23A,
VAT1,
NCOA2,
HYOU1,
IPO8,
IPO7,
NEBL,
DCTN2,
PRDX4,
ARL6IP5,
AGPAT1,
RPP38,
CCT7
|
22282472 |
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science Jeong Ho Lee , Jennifer L Silhavy , Ji Eun Lee , Lihadh Al-Gazali , Sophie Thomas , Erica E Davis , Stephanie L Bielas , Kiley J Hill , Miriam Iannicelli , Francesco Brancati , Stacey B Gabriel , Carsten Russ , Clare V Logan , Saghira Malik Sharif , Christopher P Bennett , Masumi Abe , Friedhelm Hildebrandt , Bill H Diplas , Tania Attié-Bitach , Nicholas Katsanis , Anna Rajab , Roshan Koul , Laszlo Sztriha , Elizabeth R Waters , Susan Ferro-Novick , C Geoffrey Woods , Colin A Johnson , Enza Maria Valente , Maha S Zaki , Joseph G Gleeson |
2012-02-24 | - |
21873635 |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas |
2011-09-01 | - |
16712791 |
Biochem. Biophys. Res. Commun. Ai-Guo Wang , Sun Young Yoon , Jung-Hwa Oh , Yeo-Jin Jeon , Mirang Kim , Jeong-Min Kim , Sang-Soon Byun , Jin Ok Yang , Joo Heon Kim , Dae-Ghon Kim , Young-Il Yeom , Hyang-Sook Yoo , Yong Sung Kim , Nam-Soon Kim |
2006-07-07 |
CDH2,
CDKN2B-AS1,
PET100,
LINC00543,
BCDIN3D-AS1,
NPIPA5,
LINC01133,
LINC01094,
LINC01503,
LINC01093,
LINC00844,
IL18BP,
NUTM2B-AS1,
GPR1-AS,
LINC01485,
LINC01612,
LOC101928767,
LINC01615,
CDK5,
LRRC23,
DCAF7,
GLYAT,
KCCAT333,
LOC102723345,
TTC39A-AS1,
STUB1,
TUBB4B,
CD2BP2,
LINC01399,
BAIAP2,
PFDN6,
UBD,
LOC105377368,
LOC105616981,
CCT2,
EXOC5,
CES1,
CTSC,
SLC17A3,
MTHFD2,
BLCAP,
PDIA5,
GLIPR1,
UBE2C,
TRIM31,
PRSS23,
BTN3A1,
NUDT6,
ANXA10,
CHML,
PRAF2,
GPR176,
MED8,
RNF13,
CKS1B,
LYPD1,
TOP1MT,
TSEN15,
ZFYVE27,
CLIC1,
PIH1D2,
SERPINA3,
ADH1A,
ABCC2,
OVCA2,
CYB5D2,
C17orf49,
LRRC75A-AS1,
ADH1C,
ZNF792,
TATDN3,
COL4A2,
COL5A1,
TYW5,
DNAJC19,
NUDT16,
ADK,
COX7A2,
STXBP5,
TMEM139,
ADHFE1,
C9orf85,
CSF3,
MIPOL1,
ZNF569,
CCNYL1,
CYB5A,
C7orf55,
CYP2D6,
FBXO16,
SDE2,
AKR1C1,
DDOST,
DDX3X,
TIGD2,
POLR3H,
CYB5R3,
DLX4,
AGXT
|
14702039 |
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano |
2004-01-01 |
Slc9a8,
Nefm,
Hfe2,
AKT3,
ZBTB11-AS1,
LOC100034248,
PDZK1P1,
DDTL,
LOC100049716,
ACOT8,
GNPDA1,
ZBTB33,
GTF2IP4,
POM121C,
ZSCAN30,
SRA1,
SNORD123,
UCKL1-AS1,
ZGLP1,
LOC100125918,
LINC00322,
LOC100127940,
HECW1-IT1,
LOC100127955,
LOC100127972,
LOC100127974,
FAM229A,
LOC100128076,
STAU2-AS1,
LOC100128164,
TMPO-AS1,
LOC100128219,
LOC100128239,
LOC100128253,
TNK2-AS1,
DNM1P35,
LOC100128288,
DLG5-AS1,
LOC100128310,
TRAPPC3L,
FAM83H-AS1,
LOC100128361,
LOC100128364,
FAM225B,
LOC100128386,
LOC100128398,
ASTN2-AS1,
C1orf132,
MYHAS,
LOC100128651,
LINC00476,
SRRM2-AS1,
GPR158-AS1,
LINC01165,
VPS9D1-AS1,
FAM66B,
GATA6-AS1,
LINC01310,
LOC100128979,
LOC100128988,
LOC100129034,
SEMA3F-AS1,
UNQ6494,
LOC100129115,
KHDC1L,
LOC100129175,
MATN1-AS1,
SLC39A12-AS1,
LOC100129297,
LOC100129312,
LINC00484,
LOC100129397,
LOC100129406,
DDC-AS1,
LOC100129434,
LOC100129447,
LOC100129455,
LYRM4-AS1,
ZNF37BP,
LOC100129516,
LOC100129518,
LOC100129540,
LOC100129572,
FAM47E,
LOC100129620,
LOC100129648,
C9orf173-AS1,
LOC100129775,
SLC25A21-AS1,
PCOLCE-AS1,
SCOC-AS1,
LOC100129884,
LOC100129894,
LOC100129917,
LOC100129935,
LOC100130078,
LOC100130111,
MAPT-IT1,
MIR124-2HG
|
12477932 |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team |
2002-12-24 | - |
11042152 |
Genome Res. Q H Zhang , M Ye , X Y Wu , S X Ren , M Zhao , C J Zhao , G Fu , Y Shen , H Y Fan , G Lu , M Zhong , X R Xu , Z G Han , J W Zhang , J Tao , Q H Huang , J Zhou , G X Hu , J Gu , S J Chen , Z Chen |
2000-10-01 | - |
排名 | 科研单位 | 文献 |
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