Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Rod outer segment membrane protein 1 (ROSP1) (Tetraspanin-23) (Tspan-23)

 ROM1_HUMAN              Reviewed;         351 AA.
Q03395; B2R978;
01-OCT-1993, integrated into UniProtKB/Swiss-Prot.
06-MAR-2007, sequence version 2.
07-NOV-2018, entry version 161.
RecName: Full=Rod outer segment membrane protein 1;
Short=ROSP1;
AltName: Full=Tetraspanin-23;
Short=Tspan-23;
Name=ROM1; Synonyms=TSPAN23;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALA-118.
TISSUE=Retina;
PubMed=1610568; DOI=10.1016/0896-6273(92)90137-3;
Bascom R.A., Manara S., Collins L., Molday R.S., Kalnins V.I.,
McInnes R.R.;
"Cloning of the cDNA for a novel photoreceptor membrane protein (rom-
1) identifies a disk rim protein family implicated in human
retinopathies.";
Neuron 8:1171-1184(1992).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-118.
PubMed=8504299; DOI=10.1093/hmg/2.4.385;
Bascom R.A., Schappert K.T., McInnes R.R.;
"Cloning of the human and murine ROM1 genes: genomic organization and
sequence conservation.";
Hum. Mol. Genet. 2:385-391(1993).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-118.
TISSUE=Substantia nigra;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
Sakaki Y.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-118.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
INVOLVEMENT IN RP7.
PubMed=8202715; DOI=10.1126/science.8202715;
Kajiwara K., Berson E.L., Dryja T.P.;
"Digenic retinitis pigmentosa due to mutations at the unlinked
peripherin/RDS and ROM1 loci.";
Science 264:1604-1608(1994).
[7]
VARIANTS ALA-118; HIS-229; THR-265 AND THR-271.
PubMed=7904211; DOI=10.1093/hmg/2.11.1975;
Bascom R.A., Liu L., Humphries P., Fishman G.A., Murray J.C.,
McInnes R.R.;
"Polymorphisms and rare sequence variants at the ROM1 locus.";
Hum. Mol. Genet. 2:1975-1977(1993).
[8]
VARIANTS THR-60; ASP-75; MET-108 AND GLN-242.
PubMed=8595413; DOI=10.1093/hmg/4.10.1895;
Bascom R.A., Liu L., Heckenlively J.R., Stone E.M., McInnes R.R.;
"Mutation analysis of the ROM1 gene in retinitis pigmentosa.";
Hum. Mol. Genet. 4:1895-1902(1995).
[9]
INVOLVEMENT IN RP7, AND VARIANT HIS-16.
PubMed=9331261;
Dryja T.P., Hahn L.B., Kajiwara K., Berson E.L.;
"Dominant and digenic mutations in the peripherin/RDS and ROM1 genes
in retinitis pigmentosa.";
Invest. Ophthalmol. Vis. Sci. 38:1972-1982(1997).
-!- FUNCTION: May function as an adhesion molecule involved in
stabilization and compaction of outer segment disks or in the
maintenance of the curvature of the rim. It is essential for disk
morphogenesis.
-!- SUBUNIT: Homodimer; disulfide-linked. Probably forms a complex
with a PRPH2 homodimer. Other proteins could associate with this
complex in rods.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- TISSUE SPECIFICITY: Retina (photoreceptor). In rim region of ROS
(rod outer segment) disks.
-!- DISEASE: Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal
dystrophy belonging to the group of pigmentary retinopathies.
Retinitis pigmentosa is characterized by retinal pigment deposits
visible on fundus examination and primary loss of rod
photoreceptor cells followed by secondary loss of cone
photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses,
they lose their far peripheral visual field and eventually central
vision as well. {ECO:0000269|PubMed:8202715,
ECO:0000269|PubMed:9331261}. Note=The disease may be caused by
mutations affecting distinct genetic loci, including the gene
represented in this entry. A digenic form of retinitis pigmentosa
7 results from a mutation in the PRPH2 gene and a null mutation of
the ROM1 gene has been reported (PubMed:8202715).
{ECO:0000269|PubMed:8202715}.
-!- SIMILARITY: Belongs to the PRPH2/ROM1 family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Mutations of the ROM1 gene; Note=Retina
International's Scientific Newsletter;
URL="http://www.retina-international.org/files/sci-news/rommut.htm";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
Distributed under the Creative Commons Attribution (CC BY 4.0) License
-----------------------------------------------------------------------
EMBL; L07894; AAA60274.1; -; mRNA.
EMBL; M96759; AAA60272.1; -; Genomic_DNA.
EMBL; AK313674; BAG36425.1; -; mRNA.
EMBL; AP001458; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC008100; AAH08100.1; -; mRNA.
CCDS; CCDS8024.1; -.
PIR; I54347; I54347.
RefSeq; NP_000318.1; NM_000327.3.
UniGene; Hs.281564; -.
ProteinModelPortal; Q03395; -.
BioGrid; 112021; 3.
IntAct; Q03395; 2.
STRING; 9606.ENSP00000278833; -.
iPTMnet; Q03395; -.
PhosphoSitePlus; Q03395; -.
BioMuta; ROM1; -.
DMDM; 143745282; -.
PaxDb; Q03395; -.
PeptideAtlas; Q03395; -.
PRIDE; Q03395; -.
ProteomicsDB; 58206; -.
DNASU; 6094; -.
Ensembl; ENST00000278833; ENSP00000278833; ENSG00000149489.
GeneID; 6094; -.
KEGG; hsa:6094; -.
UCSC; uc001ntv.5; human.
CTD; 6094; -.
DisGeNET; 6094; -.
EuPathDB; HostDB:ENSG00000149489.8; -.
GeneCards; ROM1; -.
GeneReviews; ROM1; -.
HGNC; HGNC:10254; ROM1.
HPA; HPA028910; -.
MalaCards; ROM1; -.
MIM; 180721; gene.
MIM; 608133; phenotype.
neXtProt; NX_Q03395; -.
OpenTargets; ENSG00000149489; -.
Orphanet; 791; Retinitis pigmentosa.
PharmGKB; PA34626; -.
eggNOG; KOG3882; Eukaryota.
eggNOG; ENOG4111IRY; LUCA.
GeneTree; ENSGT00390000016192; -.
HOGENOM; HOG000026780; -.
HOVERGEN; HBG004964; -.
InParanoid; Q03395; -.
KO; K17344; -.
OMA; LWAQGCH; -.
OrthoDB; EOG091G0956; -.
PhylomeDB; Q03395; -.
TreeFam; TF331684; -.
GeneWiki; ROM1; -.
GenomeRNAi; 6094; -.
PRO; PR:Q03395; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000149489; Expressed in 144 organ(s), highest expression level in C1 segment of cervical spinal cord.
CleanEx; HS_ROM1; -.
ExpressionAtlas; Q03395; baseline and differential.
Genevisible; Q03395; HS.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0042622; C:photoreceptor outer segment membrane; IEA:Ensembl.
GO; GO:0060219; P:camera-type eye photoreceptor cell differentiation; IEA:Ensembl.
GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
GO; GO:0010468; P:regulation of gene expression; IEA:Ensembl.
GO; GO:0061298; P:retina vasculature development in camera-type eye; IEA:Ensembl.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
Gene3D; 1.10.1450.10; -; 1.
InterPro; IPR000830; Peripherin/rom-1.
InterPro; IPR018498; Peripherin/rom-1_CS.
InterPro; IPR018499; Tetraspanin/Peripherin.
InterPro; IPR008952; Tetraspanin_EC2_sf.
Pfam; PF00335; Tetraspannin; 1.
PRINTS; PR00218; PERIPHERNRDS.
SUPFAM; SSF48652; SSF48652; 1.
PROSITE; PS00930; RDS_ROM1; 1.
1: Evidence at protein level;
Cell adhesion; Complete proteome; Disease mutation; Disulfide bond;
Membrane; Polymorphism; Reference proteome; Retinitis pigmentosa;
Transmembrane; Transmembrane helix.
CHAIN 1 351 Rod outer segment membrane protein 1.
/FTId=PRO_0000168111.
TOPO_DOM 1 19 Cytoplasmic. {ECO:0000255}.
TRANSMEM 20 44 Helical. {ECO:0000255}.
TOPO_DOM 45 64 Lumenal. {ECO:0000255}.
TRANSMEM 65 84 Helical. {ECO:0000255}.
TOPO_DOM 85 102 Cytoplasmic. {ECO:0000255}.
TRANSMEM 103 125 Helical. {ECO:0000255}.
TOPO_DOM 126 263 Lumenal. {ECO:0000255}.
TRANSMEM 264 286 Helical. {ECO:0000255}.
TOPO_DOM 287 351 Cytoplasmic. {ECO:0000255}.
VARIANT 16 16 R -> H (in dbSNP:rs143166696).
{ECO:0000269|PubMed:9331261}.
/FTId=VAR_008269.
VARIANT 60 60 P -> T (in dbSNP:rs199757012).
{ECO:0000269|PubMed:8595413}.
/FTId=VAR_006896.
VARIANT 75 75 G -> D (in dbSNP:rs747140028).
{ECO:0000269|PubMed:8595413}.
/FTId=VAR_008270.
VARIANT 108 108 T -> M (in dbSNP:rs146358003).
{ECO:0000269|PubMed:8595413}.
/FTId=VAR_006897.
VARIANT 118 118 G -> A (in dbSNP:rs1799959).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:1610568,
ECO:0000269|PubMed:7904211,
ECO:0000269|PubMed:8504299}.
/FTId=VAR_008271.
VARIANT 229 229 R -> H (in dbSNP:rs150168119).
{ECO:0000269|PubMed:7904211}.
/FTId=VAR_006898.
VARIANT 242 242 R -> Q (in dbSNP:rs767877192).
{ECO:0000269|PubMed:8595413}.
/FTId=VAR_008272.
VARIANT 265 265 A -> T (in dbSNP:rs200272942).
{ECO:0000269|PubMed:7904211}.
/FTId=VAR_006899.
VARIANT 271 271 M -> T (in dbSNP:rs137950927).
{ECO:0000269|PubMed:7904211}.
/FTId=VAR_006900.
SEQUENCE 351 AA; 37205 MW; 895C33382B681E84 CRC64;
MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG TFLAPSCQFP
VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL GPLLVAGTAG GGGLLVVGLG
LALALPGSLD EALEEGLVTA LAHYKDTEVP GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV
QWVSSRYLDP GDRDVADRIQ SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD
PRQPNQNLWA QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI
DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE A


Related products :

Catalog number Product name Quantity
EIAAB35693 Homo sapiens,Human,Rod outer segment membrane protein 1,ROM1,ROSP1,Tetraspanin-23,TSPAN23,Tspan-23
EIAAB35690 Mouse,Mus musculus,Rod outer segment membrane protein 1,Rom1,Rom-1,ROSP1
EIAAB35692 Rat,Rattus norvegicus,Rod outer segment membrane protein 1,Rom1,ROSP1
EIAAB35691 Bos taurus,Bovine,Rod outer segment membrane protein 1,ROM1,ROSP1
P3347Rb Rabbit anti_retinal outer segment membrane protein 40ug/0.2ml
CSB-EL020062RA Rat Rod outer segment membrane protein 1(ROM1) ELISA kit 96T
G8451 Rod outer segment membrane protein 1 (ROM1), Rat, ELISA Kit 96T
CRBB2_RABIT Bovine ELISA Kit FOR Rod outer segment membrane protein 1 96T
E0102h Bovine ELISA Kit FOR Rod outer segment membrane protein 1 96T
UBIP1_HUMAN Bovine ELISA Kit FOR Rod outer segment membrane protein 1 96T
G8450 Rod outer segment membrane protein 1 (ROM1), Mouse, ELISA Kit 96T
G8449 Rod outer segment membrane protein 1 (ROM1), Human, ELISA Kit 96T
CSB-EL020062RA Rat Rod outer segment membrane protein 1(ROM1) ELISA kit SpeciesRat 96T
G8448 Rod outer segment membrane protein 1 (ROM1), Bovine, ELISA Kit 96T
CSB-EL020062BO Bovine Rod outer segment membrane protein 1(ROM1) ELISA kit 96T
CSB-EL020062MO Mouse Rod outer segment membrane protein 1(ROM1) ELISA kit 96T
CSB-EL020062HU Human Rod outer segment membrane protein 1(ROM1) ELISA kit 96T
CSB-EL020062HU Human Rod outer segment membrane protein 1(ROM1) ELISA kit SpeciesHuman 96T
CSB-EL020062MO Mouse Rod outer segment membrane protein 1(ROM1) ELISA kit SpeciesMouse 96T
CSB-EL020062BO Bovine Rod outer segment membrane protein 1(ROM1) ELISA kit SpeciesBovine 96T
ROM1_RAT ELISA Kit FOR Rod outer segment membrane protein 1; organism: Rat; gene name: Rom1 96T
ROM1_MOUSE ELISA Kit FOR Rod outer segment membrane protein 1; organism: Mouse; gene name: Rom1 96T
CSB-EL020062RA Rat retinal outer segment membrane protein 1 (ROM1) ELISA kit, Species Rat, Sample Type serum, plasma 96T
EIAAB44262 Mouse,Mus musculus,OAP-1,OSP-associated protein 1,Tetraspanin TM4-A,Tetraspanin-3,Tm4sf8,Transmembrane 4 superfamily member 8,Tspan3,Tspan-3
ROM1 ROM1 Gene retinal outer segment membrane protein 1


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur | Gentaur





GENTAUR Ltd.
Unicorn House, Station Cl
Hertfordshire, Potters Bar EN6 1TL
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017
RIB 30004 00187 00010092253 10
BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG
IBAN FR76 3000 4001 8700 0100 9225 310
france@gentaur.com | Gentaur | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur | Gentaur