Q03395 (ROM1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Rod outer segment membrane protein 1
Short name=ROSP1

Alternative name(s):
Tetraspanin-23
Short name=Tspan-23

Gene names

Name:	ROM1
Synonyms:	TSPAN23

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	351 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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 structure	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.
Involvement in 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. 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 (Ref.6). Ref.6 Ref.9
Sequence similarities	Belongs to the PRPH2/ROM1 family.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Retinitis pigmentosa
Domain	Transmembrane Transmembrane helix
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement Ref.1. Source: ProtInc
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc photoreceptor outer segment membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 351	351	Rod outer segment membrane protein 1		PRO_0000168111
Regions
	Topological domain	1 – 19	19	Cytoplasmic Potential
	Transmembrane	20 – 44	25	Helical; Potential
	Topological domain	45 – 64	20	Lumenal Potential
	Transmembrane	65 – 84	20	Helical; Potential
	Topological domain	85 – 102	18	Cytoplasmic Potential
	Transmembrane	103 – 125	23	Helical; Potential
	Topological domain	126 – 263	138	Lumenal Potential
	Transmembrane	264 – 286	23	Helical; Potential
	Topological domain	287 – 351	65	Cytoplasmic Potential
Natural variations
	Natural variant	16	1	R → H. Ref.9		VAR_008269
	Natural variant	60	1	P → T. Ref.8		VAR_006896
	Natural variant	75	1	G → D. Ref.8		VAR_008270
	Natural variant	108	1	T → M. Ref.8		VAR_006897
	Natural variant	118	1	G → A. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7 Corresponds to variant rs1799959 [ dbSNP | Ensembl ].		VAR_008271
	Natural variant	229	1	R → H. Ref.7		VAR_006898
	Natural variant	242	1	R → Q. Ref.8		VAR_008272
	Natural variant	265	1	A → T. Ref.7		VAR_006899
	Natural variant	271	1	M → T. Ref.7		VAR_006900

Sequences

	Sequence		Length	Mass (Da)
	Q03395 [UniParc]. Last modified March 6, 2007. Version 2. Checksum: 895C33382B681E84	FASTA	351	37,205
	10 20 30 40 50 60 MAPVLPLVLP LQPRIRLAQG LWLLSWLLAL AGGVILLCSG HLLVQLRHLG TFLAPSCQFP 70 80 90 100 110 120 VLPQAALAAG AVALGTGLVG VGASRASLNA ALYPPWRGVL GPLLVAGTAG GGGLLVVGLG 130 140 150 160 170 180 LALALPGSLD EALEEGLVTA LAHYKDTEVP GHCQAKRLVD ELQLRYHCCG RHGYKDWFGV 190 200 210 220 230 240 QWVSSRYLDP GDRDVADRIQ SNVEGLYLTD GVPFSCCNPH SPRPCLQNRL SDSYAHPLFD 250 260 270 280 290 300 PRQPNQNLWA QGCHEVLLEH LQDLAGTLGS MLAVTFLLQA LVLLGLRYLQ TALEGLGGVI 310 320 330 340 350 DAGGETQGYL FPSGLKDMLK TAWLQGGVAC RPAPEEAPPG EAPPKEDLSE A

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies." Bascom R.A., Manara S., Collins L., Molday R.S., Kalnins V.I., McInnes R.R. Neuron 8:1171-1184(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-118. Tissue: Retina.
[2]	"Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation." Bascom R.A., Schappert K.T., McInnes R.R. Hum. Mol. Genet. 2:385-391(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-118.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-118. Tissue: Substantia nigra.
[4]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." 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. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-118. Tissue: Brain.
[6]	"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci." Kajiwara K., Berson E.L., Dryja T.P. Science 264:1604-1608(1994) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN RP7.
[7]	"Polymorphisms and rare sequence variants at the ROM1 locus." Bascom R.A., Liu L., Humphries P., Fishman G.A., Murray J.C., McInnes R.R. Hum. Mol. Genet. 2:1975-1977(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ALA-118; HIS-229; THR-265 AND THR-271.
[8]	"Mutation analysis of the ROM1 gene in retinitis pigmentosa." Bascom R.A., Liu L., Heckenlively J.R., Stone E.M., McInnes R.R. Hum. Mol. Genet. 4:1895-1902(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS THR-60; ASP-75; MET-108 AND GLN-242.
[9]	"Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa." Dryja T.P., Hahn L.B., Kajiwara K., Berson E.L. Invest. Ophthalmol. Vis. Sci. 38:1972-1982(1997) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN RP7, VARIANT HIS-16.
+	Additional computationally mapped references.

Web resources

Mutations of the ROM1 gene

Retina International's Scientific Newsletter

Cross-references

Sequence databases
EMBL GenBank DDBJ	L07894 mRNA. Translation: AAA60274.1. M96759 Genomic DNA. Translation: AAA60272.1. AK313674 mRNA. Translation: BAG36425.1. AP001458 Genomic DNA. No translation available. BC008100 mRNA. Translation: AAH08100.1.
IPI	IPI00010342.
PIR	I54347.
RefSeq	NP_000318.1. NM_000327.3.
UniGene	Hs.281564.
3D structure databases
ProteinModelPortal	Q03395.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000278833.
PTM databases
PhosphoSite	Q03395.
Polymorphism databases
DMDM	143745282.
Proteomic databases
PaxDb	Q03395.
PRIDE	Q03395.
Protocols and materials databases
DNASU	6094.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000278833; ENSP00000278833; ENSG00000149489.
GeneID	6094.
KEGG	hsa:6094.
UCSC	uc001ntv.3. human.
Organism-specific databases
CTD	6094.
GeneCards	GC11P062381.
HGNC	HGNC:10254. ROM1.
MIM	180721. gene. 608133. phenotype.
neXtProt	NX_Q03395.
Orphanet	791. Retinitis pigmentosa.
PharmGKB	PA34626.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG296737.
HOGENOM	HOG000026780.
HOVERGEN	HBG004964.
InParanoid	Q03395.
OMA	RYLQTAL.
OrthoDB	EOG4N04FM.
PhylomeDB	Q03395.
Gene expression databases
ArrayExpress	Q03395.
Bgee	Q03395.
CleanEx	HS_ROM1.
Genevestigator	Q03395.
GermOnline	ENSG00000149489. Homo sapiens.
Family and domain databases
InterPro	IPR000830. Peripherin/rom-1. IPR018498. Peripherin/rom-1_CS. IPR018499. Tetraspanin/Peripherin. IPR008952. Tetraspanin_EC2. [Graphical view]
Pfam	PF00335. Tetraspannin. 1 hit. [Graphical view]
PRINTS	PR00218. PERIPHERNRDS.
SUPFAM	SSF48652. Tetraspanin. 1 hit.
PROSITE	PS00930. RDS_ROM1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6094.
NextBio	23699.
SOURCE	Search...

Entry information

Entry name

ROM1_HUMAN

Accession

Primary (citable) accession number: Q03395
Secondary accession number(s): B2R978

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	March 6, 2007
Last modified:	May 1, 2013
This is version 125 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.