| Type | Description |
|---|---|
| Definition | retinal outer segment membrane protein 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 11:34:00 | our study unravels unexpected opposing roles of per(WT) and Rom-1 in rod outer segment (OS)targeting of adRP-linked peripherin-2 mutants and suggests a new treatment strategy for the affected individuals. | 28539581 |
| 2017-09-16 13:23:00 | ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype | 28053051 |
| 2010-12-05 22:08:00 | Observational study of genetic testing. (HuGE Navigator) | 20801516 |
| 2010-08-23 11:08:00 | Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype. | 20335603 |
| Type | IDs |
|---|---|
| Synonymous | ROM, ROSP1, RP7, TSPAN23 |
| Gene |
UniProtKB-ID:
ROM1_HUMAN
UniprotKB:
Q03395
UniParc:
UPI000013DB95
EMBL:
AK313674,
M96759,
BC008100,
L07894,
AP001458
Ensembl:
ENSG00000149489
KO:
hsa:6094
|
| Nucleutide sequences |
EMBL-CDS:
AAA60272.1,
AAA60274.1,
AAH08100.1,
BAG36425.1
Ensembl_TRS:
ENST00000278833
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000278833
RefSeq:
NP_000318.2
|
| Others |
UniRef100:
UniRef100_Q03395
UniRef90:
UniRef90_Q03395
UniRef50:
UniRef50_Q03395
UniGene:
Hs.281564
CCDS:
CCDS8024.1
|
| {{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 |
|---|---|---|---|
| 32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
| 28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
| 28539581 |
Sci Rep Sybille Böhm , Lisa M Riedmayr , O N Phuong Nguyen , Andreas GieÃl , Toni Liebscher , Elisabeth S Butz , Christian Schön , Stylianos Michalakis , Christian Wahl-Schott , Martin Biel , Elvir Becirovic |
2017-05-24 | - |
| 28053051 |
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. Hum Mol Genet Shannon M Conley , Michael W Stuck , Jamie N Watson , Muna I Naash |
2017-02-01 | - |
| 25036637 |
Cell Mikko Taipale , George Tucker , Jian Peng , Irina Krykbaeva , Zhen-Yuan Lin , Brett Larsen , Hyungwon Choi , Bonnie Berger , Anne-Claude Gingras , Susan Lindquist |
2014-07-17 | - |
| 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 | - |
| 20801516 |
Ophthalmology Judith C Booij , Arne Bakker , Jamilia Kulumbetova , Youssef Moutaoukil , Bert Smeets , Joke Verheij , Hester Y Kroes , Caroline C W Klaver , Mary van Schooneveld , Arthur A B Bergen , Ralph J Florijn |
2011-01-01 |
ND6,
ND4,
ND1,
NR2E3,
USH1C,
OPTN,
MERTK,
PRPF8,
TTC8,
USH1G,
CNGB1,
CNGA1,
CNGA3,
BBS5,
CRX,
RDH12,
EFEMP1,
TRIM32,
RIMS1,
CRB1,
AIPL1,
ABCA4,
PRPF31,
BBS9,
GNAT1,
GRM6,
GUCA1A,
GUCY2D,
CFH,
APOA1,
IMPDH1,
ABCC6,
CERKL,
ARMS2,
MITF,
MYO7A,
MYOC,
NDP,
NRL,
OCA2,
PAX3,
PAX6,
PDE6A,
PDE6B,
CNGB3,
BBS7,
CABP4,
RPGRIP1,
BBS1,
BBS2,
BBS4,
OPN1LW,
RDH5,
PRPH2,
RGR,
RHO,
RLBP1,
NYX,
ROM1,
RP9,
RP1,
RP2,
RPGR,
OPN1SW,
RPE65,
RS1,
CFB,
SAG,
CDH23,
SEMA4A,
PCDH15,
ELOVL4,
TIMP3,
C2,
TTPA,
TULP1,
USH2A,
BEST1,
CA4,
CACNA1F,
ALMS1,
BBS10,
CEP290,
OPA3,
MKKS,
ADGRV1,
ARL6,
UNC119,
PRPF3,
LRAT
|
| 20335603 |
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci Charlotte M Poloschek , Michael Bach , Wolf A Lagrèze , Esther Glaus , Johannes R Lemke , Wolfgang Berger , John Neidhardt |
2010-08-01 | - |
| 17207965 |
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics Philippe Lamesch , Ning Li , Stuart Milstein , Changyu Fan , Tong Hao , Gabor Szabo , Zhenjun Hu , Kavitha Venkatesan , Graeme Bethel , Paul Martin , Jane Rogers , Stephanie Lawlor , Stuart McLaren , Amélie Dricot , Heather Borick , Michael E Cusick , Jean Vandenhaute , Ian Dunham , David E Hill , Marc Vidal |
2007-03-01 |
GNPDA1,
CTAGE4,
BCL2L11,
PIGK,
TIMM23,
NPIPA5,
CST8,
AP1M2,
COX17,
TIMM23B,
SNX29P1,
IL18BP,
RWDD2B,
TSSC4,
UPK1A-AS1,
ARPC5,
ARPC3,
TSPAN5,
TSPAN3,
TSPAN1,
PPIF,
CTDSP2,
NAMPT,
PDZK1IP1,
DHRS9,
RBM7,
MPHOSPH6,
DHRS2,
MPZL2,
GPA33,
CALCOCO2,
SPRY3,
SPRY1,
RAMP3,
TRAIP,
DNAJA2,
IKZF1,
CRISP3,
SIRPB1,
CNPY2,
B3GNT3,
WARS2,
NPM3,
CDO1,
CACNG3,
TUBB4B,
CEPT1,
PEMT,
WFDC2,
NSA2,
EMG1,
TIMM17A,
PPIE,
HAX1,
CIB2,
DCTN2,
RPP38,
SLC35A1,
IFI44,
CXCL13,
SIVA1,
MRPL28,
CENPA,
MAB21L2,
RAD51AP1,
MTX2,
CGRRF1,
DCTN6,
B3GNT2,
CLDN16,
PNMA2,
KLRA1P,
SRSF10,
ARPP21,
STARD10,
CGA,
EDDM3A,
CFHR3,
GPR83,
RAB10,
CPSF4,
RUNDC3A,
COPS8,
C11orf58,
CCDC85B,
GLIPR1,
KLK11,
SNRNP27,
LIAS,
LILRA2,
SNRNP35,
CYB561D2,
ESM1,
WDR5,
BTN2A1,
HHLA3,
BVES,
KLK8,
MRPL3
|
| 17286855 |
Mapping of transcription start sites of human retina expressed genes. BMC Genomics Valeria Roni , Ronald Carpio , Bernd Wissinger |
2007-01-01 |
NXNL1,
WDR17,
CNGA3,
GRK7,
CRX,
RDH12,
EYA3,
AIPL1,
ABCA4,
SLC24A2,
FSCN2,
LRIT1,
PRPF31,
CLUL1,
GNAT1,
CRB2,
GUCY2D,
AOC2,
HPCA,
IMPG1,
KIFC3,
ILDR2,
RDH8,
IMPG2,
RDH11,
PDE6H,
CNGB3,
MPP4,
RBP3,
RCVRN,
RDH5,
PRPH2,
RGR,
RLBP1,
ELOVL5,
ROM1,
RP1,
RPGR,
RS1,
SAG,
ELOVL4,
TULP1,
DHRS3,
OPN4,
C14orf2
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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|---|---|---|
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