RPGRIP1

Functionⁱ

May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.By similarity1 Publication

GO - Biological processⁱ

eye photoreceptor cell development Source: Ensembl
neural precursor cell proliferation Source: Ensembl
response to stimulus Source: UniProtKB-KW
retina development in camera-type eye Source: Ensembl
visual perception Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Sensory transduction, Vision

Biological process

Sensory transduction, Vision

Enzyme and pathway databases

SIGNORⁱ	Q96KN7

SIGNORⁱ

Q96KN7

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Short name: RPGR-interacting protein 1
Gene namesⁱ	Name:RPGRIP1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 14

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000092200.12
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:13436 RPGRIP1
MIMⁱ	605446 gene
neXtProtⁱ	NX_Q96KN7

Keywords - Cellular componentⁱ

Cell projection, Cilium

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Leber congenital amaurosis 6 (LCA6)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067186	631	H → P in LCA6. 1 Publication	1
Natural variantⁱVAR_017833	746	G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar.	1
Natural variantⁱVAR_017836	1114	D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar.	1
Natural variantⁱVAR_076823	1211	V → E in LCA6. 2 Publications	1

Cone-rod dystrophy 13 (CORD13)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_017831	547	A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar.		1
Natural variantⁱVAR_017834	827	R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar.		1

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	1121	E → A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245. 1 Publication	1
Mutagenesisⁱ	1121	E → K: Decreases interaction with RPGR. 1 Publication	1
Mutagenesisⁱ	1174	H → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245. 1 Publication	1
Mutagenesisⁱ	1174	H → D: Abolishes interaction with RPGR. 1 Publication	1
Mutagenesisⁱ	1245	E → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174. 1 Publication	1
Mutagenesisⁱ	1245	E → K: No effect on interaction with RPGR. 1 Publication	1

Keywords - Diseaseⁱ

Ciliopathy, Cone-rod dystrophy, Disease mutation, Glaucoma, Leber congenital amaurosis

Organism-specific databases

DisGeNET More...DisGeNETⁱ	57096
GeneReviewsⁱ	RPGRIP1
MalaCards human disease database More...MalaCardsⁱ	RPGRIP1
MIMⁱ	608194 phenotype 613826 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000092200
Orphanetⁱ	1872 Cone rod dystrophy 65 Leber congenital amaurosis 564 Meckel syndrome
PharmGKBⁱ	PA34657

Polymorphism and mutation databases

BioMutaⁱ	RPGRIP1
DMDMⁱ	296452882

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000097432	1 – 1286	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Add BLAST		1286

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96KN7
PaxDbⁱ	Q96KN7
PeptideAtlas More...PeptideAtlasⁱ	Q96KN7
PRIDEⁱ	Q96KN7
ProteomicsDBⁱ	77089 77090 [Q96KN7-2] 77091 [Q96KN7-3] 77092 [Q96KN7-4] 77093 [Q96KN7-5] 77094 [Q96KN7-6]

PTM databases

iPTMnetⁱ	Q96KN7
PhosphoSitePlusⁱ	Q96KN7

Expressionⁱ

Tissue specificityⁱ

Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments.3 Publications

Gene expression databases

Bgeeⁱ	ENSG00000092200 Expressed in 96 organ(s), highest expression level in testis
CleanExⁱ	HS_RPGRIP1
ExpressionAtlasⁱ	Q96KN7 baseline and differential
Genevisibleⁱ	Q96KN7 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA042955 HPA060190

HPAⁱ

HPA042955
HPA060190

Interactionⁱ

Subunit structureⁱ

Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4. Interacts with NEK4. Interacts with SPATA7 (PubMed:25398945). Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501).By similarity7 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
AEN	Q8WTP8	3	EBI-1050213,EBI-8637627
CBX8	Q9HC52	3	EBI-1050213,EBI-712912
CCDC146	Q8IYE0-2	3	EBI-1050213,EBI-10247802
CHCHD3	Q9NX63	3	EBI-1050213,EBI-743375
CSPP1	Q1MSJ5-2	3	EBI-1050213,EBI-10239155
DPPA4	Q7L190	3	EBI-1050213,EBI-710457
FAM74A6	Q5TZK3	3	EBI-1050213,EBI-10247271
FEM1C	Q96JP0	3	EBI-1050213,EBI-2515330
GATAD2B	Q8WXI9	3	EBI-1050213,EBI-923440
HEYL	Q9NQ87	3	EBI-1050213,EBI-751092
MAGEB2	O15479	3	EBI-1050213,EBI-1057615
NPHP4	O75161-1	9	EBI-12499377,EBI-12499345
RNF6	A0A0S2Z4G9	3	EBI-11525164,EBI-16428950
RPGR	Q92834	9	EBI-1050213,EBI-6558417
RPP25L	Q8N5L8	3	EBI-1050213,EBI-10189722
SCNM1	Q9BWG6	3	EBI-1050213,EBI-748391
TBC1D7	Q9P0N9	3	EBI-1050213,EBI-3258000
TFPT	P0C1Z6-2	3	EBI-1050213,EBI-10178002
TRIB3	Q96RU7	3	EBI-1050213,EBI-492476
ZNF337	Q9Y3M9	3	EBI-1050213,EBI-714987
ZNF417	Q8TAU3	3	EBI-1050213,EBI-740727
ZNF564	Q8TBZ8	3	EBI-1050213,EBI-10273713
ZNF688	A0A0S2Z5X4	3	EBI-11525164,EBI-16429014

Protein-protein interaction databases

BioGridⁱ	121364, 63 interactors
IntActⁱ	Q96KN7, 59 interactors
STRINGⁱ	9606.ENSP00000382895

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	1117 – 1127	Combined sources	11
Helixⁱ	1132 – 1135	Combined sources	4
Beta strandⁱ	1141 – 1145	Combined sources	5
Helixⁱ	1153 – 1156	Combined sources	4
Beta strandⁱ	1171 – 1180	Combined sources	10
Turnⁱ	1183 – 1185	Combined sources	3
Helixⁱ	1187 – 1197	Combined sources	11
Beta strandⁱ	1204 – 1213	Combined sources	10
Helixⁱ	1220 – 1222	Combined sources	3
Beta strandⁱ	1224 – 1232	Combined sources	9
Helixⁱ	1233 – 1239	Combined sources	7
Beta strandⁱ	1246 – 1251	Combined sources	6
Turnⁱ	1253 – 1255	Combined sources	3
Beta strandⁱ	1258 – 1268	Combined sources	11
Helixⁱ	1270 – 1282	Combined sources	13

Show more details

3D structure databases

ProteinModelPortalⁱ	Q96KN7
SMRⁱ	Q96KN7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	801 – 890	C2Add BLAST		90

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1091 – 1281	Interaction with RPGR1 PublicationAdd BLAST		191

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	294 – 584	Sequence analysisAdd BLAST		291

Domainⁱ

The C2 domain does not bind calcium ions, and does not bind phosphoinositides.1 Publication

Sequence similaritiesⁱ

Belongs to the RPGRIP1 family.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

eggNOGⁱ	ENOG410IGZN Eukaryota ENOG410YNUX LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00520000055620
HOVERGENⁱ	HBG060744
InParanoidⁱ	Q96KN7
KEGG Orthology (KO) More...KOⁱ	K16512
OMAⁱ	KSPEKMW
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G03K7
PhylomeDBⁱ	Q96KN7
TreeFamⁱ	TF328883

Family and domain databases

Gene3Dⁱ	2.60.40.150, 3 hits
InterProⁱ	View protein in InterPro IPR021656 C2-C2_1 IPR000008 C2_dom IPR035892 C2_domain_sf IPR031134 RPGRIP1 IPR031139 RPGRIP1_fam
PANTHERⁱ	PTHR14240 PTHR14240, 1 hit PTHR14240:SF3 PTHR14240:SF3, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00168 C2, 1 hit PF11618 C2-C2_1, 1 hit

Sequences (6+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 6 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q96KN7-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MSHLVDPTSG DLPVRDIDAI PLVLPASKGK NMKTQPPLSR MNREELEDSF 
        60         70         80         90        100
FRLREDHMLV KELSWKQQDE IKRLRTTLLR LTAAGRDLRV AEEAAPLSET 
       110        120        130        140        150
ARRGQKAGWR QRLSMHQRPQ MHRLQGHFHC VGPASPRRAQ PRVQVGHRQL 
       160        170        180        190        200
HTAGAPVPEK PKRGPRDRLS YTAPPSFKEH ATNENRGEVA SKPSELVSGS 
       210        220        230        240        250
NSIISFSSVI SMAKPIGLCM PNSAHIMASN TMQVEEPPKS PEKMWPKDEN 
       260        270        280        290        300
FEQRSSLECA QKAAELRASI KEKVELIRLK KLLHERNASL VMTKAQLTEV 
       310        320        330        340        350
QEAYETLLQK NQGILSAAHE ALLKQVNELR AELKEESKKA VSLKSQLEDV 
       360        370        380        390        400
SILQMTLKEF QERVEDLEKE RKLLNDNYDK LLESMLDSSD SSSQPHWSNE 
       410        420        430        440        450
LIAEQLQQQV SQLQDQLDAE LEDKRKVLLE LSREKAQNED LKLEVTNILQ 
       460        470        480        490        500
KHKQEVELLQ NAATISQPPD RQSEPATHPA VLQENTQIEP SEPKNQEEKK 
       510        520        530        540        550
LSQVLNELQV SHAETTLELE KTRDMLILQR KINVCYQEEL EAMMTKADND 
       560        570        580        590        600
NRDHKEKLER LTRLLDLKNN RIKQLEGILR SHDLPTSEQL KDVAYGTRPL 
       610        620        630        640        650
SLCLETLPAH GDEDKVDISL LHQGENLFEL HIHQAFLTSA ALAQAGDTQP 
       660        670        680        690        700
TTFCTYSFYD FETHCTPLSV GPQPLYDFTS QYVMETDSLF LHYLQEASAR 
       710        720        730        740        750
LDIHQAMASE HSTLAAGWIC FDRVLETVEK VHGLATLIGA GGEEFGVLEY 
       760        770        780        790        800
WMRLRFPIKP SLQACNKRKK AQVYLSTDVL GGRKAQEEEF RSESWEPQNE 
       810        820        830        840        850
LWIEITKCCG LRSRWLGTQP SPYAVYRFFT FSDHDTAIIP ASNNPYFRDQ 
       860        870        880        890        900
ARFPVLVTSD LDHYLRREAL SIHVFDDEDL EPGSYLGRAR VPLLPLAKNE 
       910        920        930        940        950
SIKGDFNLTD PAEKPNGSIQ VQLDWKFPYI PPESFLKPEA QTKGKDTKDS 
       960        970        980        990       1000
SKISSEEEKA SFPSQDQMAS PEVPIEAGQY RSKRKPPHGG ERKEKEHQVV 
      1010       1020       1030       1040       1050
SYSRRKHGKR IGVQGKNRME YLSLNILNGN TPEQVNYTEW KFSETNSFIG 
      1060       1070       1080       1090       1100
DGFKNQHEEE EMTLSHSALK QKEPLHPVND KESSEQGSEV SEAQTTDSDD 
      1110       1120       1130       1140       1150
VIVPPMSQKY PKADSEKMCI EIVSLAFYPE AEVMSDENIK QVYVEYKFYD 
      1160       1170       1180       1190       1200
LPLSETETPV SLRKPRAGEE IHFHFSKVID LDPQEQQGRR RFLFDMLNGQ 
      1210       1220       1230       1240       1250
DPDQGHLKFT VVSDPLDEEK KECEEVGYAY LQLWQILESG RDILEQELDI 
      1260       1270       1280 
VSPEDLATPI GRLKVSLQAA AVLHAIYKEM TEDLFS

Length:1,286

Mass (Da):146,682

Last modified:May 18, 2010 - v2

Checksum:ⁱ00AC1C2A0AC82253

GO

Isoform 2 (identifier: Q96KN7-2) [UniParc]FASTA Add to basket

Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
1-617: Missing.
618-623: ISLLHQ → MTFQHL

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        10         20         30         40         50
MTFQHLGENL FELHIHQAFL TSAALAQAGD TQPTTFCTYS FYDFETHCTP 
        60         70         80         90        100
LSVGPQPLYD FTSQYVMETD SLFLHYLQEA SARLDIHQAM ASEHSTLAAG 
       110        120        130        140        150
WICFDRVLET VEKVHGLATL IGAGGEEFGV LEYWMRLRFP IKPSLQACNK 
       160        170        180        190        200
RKKAQVYLST DVLGGRKAQE EEFRSESWEP QNELWIEITK CCGLRSRWLG 
       210        220        230        240        250
TQPSPYAVYR FFTFSDHDTA IIPASNNPYF RDQARFPVLV TSDLDHYLRR 
       260        270        280        290        300
EALSIHVFDD EDLEPGSYLG RARVPLLPLA KNESIKGDFN LTDPAEKPNG 
       310        320        330        340        350
SIQVQLDWKF PYIPPESFLK PEAQTKGKDT KDSSKISSEE EKASFPSQDQ 
       360        370        380        390        400
MASPEVPIEA GQYRSKRKPP HGGERKEKEH QVVSYSRRKH GKRIGVQGKN 
       410        420        430        440        450
RMEYLSLNIL NGNTPEQVNY TEWKFSETNS FIGDGFKNQH EEEEMTLSHS 
       460        470        480        490        500
ALKQKEPLHP VNDKESSEQG SEVSEAQTTD SDDVIVPPMS QKYPKADSEK 
       510        520        530        540        550
MCIEIVSLAF YPEAEVMSDE NIKQVYVEYK FYDLPLSETE TPVSLRKPRA 
       560        570        580        590        600
GEEIHFHFSK VIDLDPQEQQ GRRRFLFDML NGQDPDQGHL KFTVVSDPLD 
       610        620        630        640        650
EEKKECEEVG YAYLQLWQIL ESGRDILEQE LDIVSPEDLA TPIGRLKVSL 
       660 
QAAAVLHAIY KEMTEDLFS

Show »

Length:669

Mass (Da):76,372

Checksum:ⁱF27A364596947FA9

GO

Isoform 3 (identifier: Q96KN7-3) [UniParc]FASTA Add to basket

Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
1-641: Missing.
642-673: LAQAGDTQPTTFCTYSFYDFETHCTPLSVGPQ → MLLMAPDRCRYVWKHCQPMEMRIKWIFLCCIR

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        10         20         30         40         50
MLLMAPDRCR YVWKHCQPME MRIKWIFLCC IRPLYDFTSQ YVMETDSLFL 
        60         70         80         90        100
HYLQEASARL DIHQAMASEH STLAAGWICF DRVLETVEKV HGLATLIGAG 
       110        120        130        140        150
GEEFGVLEYW MRLRFPIKPS LQACNKRKKA QVYLSTDVLG GRKAQEEEFR 
       160        170        180        190        200
SESWEPQNEL WIEITKCCGL RSRWLGTQPS PYAVYRFFTF SDHDTAIIPA 
       210        220        230        240        250
SNNPYFRDQA RFPVLVTSDL DHYLRREALS IHVFDDEDLE PGSYLGRARV 
       260        270        280        290        300
PLLPLAKNES IKGDFNLTDP AEKPNGSIQV QLDWKFPYIP PESFLKPEAQ 
       310        320        330        340        350
TKGKDTKDSS KISSEEEKAS FPSQDQMASP EVPIEAGQYR SKRKPPHGGE 
       360        370        380        390        400
RKEKEHQVVS YSRRKHGKRI GVQGKNRMEY LSLNILNGNT PEQVNYTEWK 
       410        420        430        440        450
FSETNSFIGD GFKNQHEEEE MTLSHSALKQ KEPLHPVNDK ESSEQGSEVS 
       460        470        480        490        500
EAQTTDSDDV IVPPMSQKYP KADSEKMCIE IVSLAFYPEA EVMSDENIKQ 
       510        520        530        540        550
VYVEYKFYDL PLSETETPVS LRKPRAGEEI HFHFSKVIDL DPQEQQGRRR 
       560        570        580        590        600
FLFDMLNGQD PDQGHLKFTV VSDPLDEEKK ECEEVGYAYL QLWQILESGR 
       610        620        630        640 
DILEQELDIV SPEDLATPIG RLKVSLQAAA VLHAIYKEMT EDLFS

Show »

Length:645

Mass (Da):74,179

Checksum:ⁱ231F8AE6557EEEDB

GO

Isoform 4 (identifier: Q96KN7-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-358: Missing.
     359-383: EFQERVEDLEKERKLLNDNYDKLLE → MLKLDNKDVISHPLGYPSESLLSIA
     588-903: Missing.

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        10         20         30         40         50
MLKLDNKDVI SHPLGYPSES LLSIASMLDS SDSSSQPHWS NELIAEQLQQ 
        60         70         80         90        100
QVSQLQDQLD AELEDKRKVL LELSREKAQN EDLKLEVTNI LQKHKQEVEL 
       110        120        130        140        150
LQNAATISQP PDRQSEPATH PAVLQENTQI EPSEPKNQEE KKLSQVLNEL 
       160        170        180        190        200
QVSHAETTLE LEKTRDMLIL QRKINVCYQE ELEAMMTKAD NDNRDHKEKL 
       210        220        230        240        250
ERLTRLLDLK NNRIKQLEGI LRSHDLPTSG DFNLTDPAEK PNGSIQVQLD 
       260        270        280        290        300
WKFPYIPPES FLKPEAQTKG KDTKDSSKIS SEEEKASFPS QDQMASPEVP 
       310        320        330        340        350
IEAGQYRSKR KPPHGGERKE KEHQVVSYSR RKHGKRIGVQ GKNRMEYLSL 
       360        370        380        390        400
NILNGNTPEQ VNYTEWKFSE TNSFIGDGFK NQHEEEEMTL SHSALKQKEP 
       410        420        430        440        450
LHPVNDKESS EQGSEVSEAQ TTDSDDVIVP PMSQKYPKAD SEKMCIEIVS 
       460        470        480        490        500
LAFYPEAEVM SDENIKQVYV EYKFYDLPLS ETETPVSLRK PRAGEEIHFH 
       510        520        530        540        550
FSKVIDLDPQ EQQGRRRFLF DMLNGQDPDQ GHLKFTVVSD PLDEEKKECE 
       560        570        580        590        600
EVGYAYLQLW QILESGRDIL EQELDIVSPE DLATPIGRLK VSLQAAAVLH 
       610 
AIYKEMTEDL FS

Show »

Length:612

Mass (Da):70,051

Checksum:ⁱC444C7EBA35D4918

GO

Isoform 5 (identifier: Q96KN7-5) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-384: Missing.

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        10         20         30         40         50
MLDSSDSSSQ PHWSNELIAE QLQQQVSQLQ DQLDAELEDK RKVLLELSRE 
        60         70         80         90        100
KAQNEDLKLE VTNILQKHKQ EVELLQNAAT ISQPPDRQSE PATHPAVLQE 
       110        120        130        140        150
NTQIEPSEPK NQEEKKLSQV LNELQVSHAE TTLELEKTRD MLILQRKINV 
       160        170        180        190        200
CYQEELEAMM TKADNDNRDH KEKLERLTRL LDLKNNRIKQ LEGILRSHDL 
       210        220        230        240        250
PTSEQLKDVA YGTRPLSLCL ETLPAHGDED KVDISLLHQG ENLFELHIHQ 
       260        270        280        290        300
AFLTSAALAQ AGDTQPTTFC TYSFYDFETH CTPLSVGPQP LYDFTSQYVM 
       310        320        330        340        350
ETDSLFLHYL QEASARLDIH QAMASEHSTL AAGWICFDRV LETVEKVHGL 
       360        370        380        390        400
ATLIGAGGEE FGVLEYWMRL RFPIKPSLQA CNKRKKAQVY LSTDVLGGRK 
       410        420        430        440        450
AQEEEFRSES WEPQNELWIE ITKCCGLRSR WLGTQPSPYA VYRFFTFSDH 
       460        470        480        490        500
DTAIIPASNN PYFRDQARFP VLVTSDLDHY LRREALSIHV FDDEDLEPGS 
       510        520        530        540        550
YLGRARVPLL PLAKNESIKG DFNLTDPAEK PNGSIQVQLD WKFPYIPPES 
       560        570        580        590        600
FLKPEAQTKG KDTKDSSKIS SEEEKASFPS QDQMASPEVP IEAGQYRSKR 
       610        620        630        640        650
KPPHGGERKE KEHQVVSYSR RKHGKRIGVQ GKNRMEYLSL NILNGNTPEQ 
       660        670        680        690        700
VNYTEWKFSE TNSFIGDGFK NQHEEEEMTL SHSALKQKEP LHPVNDKESS 
       710        720        730        740        750
EQGSEVSEAQ TTDSDDVIVP PMSQKYPKAD SEKMCIEIVS LAFYPEAEVM 
       760        770        780        790        800
SDENIKQVYV EYKFYDLPLS ETETPVSLRK PRAGEEIHFH FSKVIDLDPQ 
       810        820        830        840        850
EQQGRRRFLF DMLNGQDPDQ GHLKFTVVSD PLDEEKKECE EVGYAYLQLW 
       860        870        880        890        900
QILESGRDIL EQELDIVSPE DLATPIGRLK VSLQAAAVLH AIYKEMTEDL 

FS

Show »

Length:902

Mass (Da):103,124

Checksum:ⁱ2A9013EC2A8319CD

GO

Isoform 6 (identifier: Q96KN7-6) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-384: Missing.
966-1286: Missing.

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        10         20         30         40         50
MLDSSDSSSQ PHWSNELIAE QLQQQVSQLQ DQLDAELEDK RKVLLELSRE 
        60         70         80         90        100
KAQNEDLKLE VTNILQKHKQ EVELLQNAAT ISQPPDRQSE PATHPAVLQE 
       110        120        130        140        150
NTQIEPSEPK NQEEKKLSQV LNELQVSHAE TTLELEKTRD MLILQRKINV 
       160        170        180        190        200
CYQEELEAMM TKADNDNRDH KEKLERLTRL LDLKNNRIKQ LEGILRSHDL 
       210        220        230        240        250
PTSEQLKDVA YGTRPLSLCL ETLPAHGDED KVDISLLHQG ENLFELHIHQ 
       260        270        280        290        300
AFLTSAALAQ AGDTQPTTFC TYSFYDFETH CTPLSVGPQP LYDFTSQYVM 
       310        320        330        340        350
ETDSLFLHYL QEASARLDIH QAMASEHSTL AAGWICFDRV LETVEKVHGL 
       360        370        380        390        400
ATLIGAGGEE FGVLEYWMRL RFPIKPSLQA CNKRKKAQVY LSTDVLGGRK 
       410        420        430        440        450
AQEEEFRSES WEPQNELWIE ITKCCGLRSR WLGTQPSPYA VYRFFTFSDH 
       460        470        480        490        500
DTAIIPASNN PYFRDQARFP VLVTSDLDHY LRREALSIHV FDDEDLEPGS 
       510        520        530        540        550
YLGRARVPLL PLAKNESIKG DFNLTDPAEK PNGSIQVQLD WKFPYIPPES 
       560        570        580 
FLKPEAQTKG KDTKDSSKIS SEEEKASFPS Q

Show »

Length:581

Mass (Da):66,319

Checksum:ⁱ481BE9E573F48A33

GO

Computationally mapped potential isoform sequencesⁱ

There are 8 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

G3V3F7	G3V3F7_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	1,248	Annotation score:
G3V3I7	G3V3I7_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	761	Annotation score:
G3V236	G3V236_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	943	Annotation score:
H0YIY1	H0YIY1_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	143	Annotation score:
G3V577	G3V577_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	166	Annotation score:
H0YJK6	H0YJK6_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	134	Annotation score:
H0YJ99	H0YJ99_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	59	Annotation score:
H0YJ18	H0YJ18_HUMAN	X-linked retinitis pigmentosa GTPas... X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	RPGRIP1	26	Annotation score:

Sequence cautionⁱ

The sequence CAE11866 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	539	Missing in AAG10246 (PubMed:10958648).Curated	1
Sequence conflictⁱ	554 – 555	HK → SQR in AAG10246 (PubMed:10958648).Curated	2
Sequence conflictⁱ	611	G → R in CAE11866 (PubMed:17974005).Curated	1
Sequence conflictⁱ	1159	P → L in CAE11866 (PubMed:17974005).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_065720	32	M → L1 Publication	1
Natural variantⁱVAR_057772	96	P → Q1 PublicationCorresponds to variant dbSNP:rs1040904EnsemblClinVar.	1
Natural variantⁱVAR_065721	135	S → R1 Publication	1
Natural variantⁱVAR_017830	192	K → E1 PublicationCorresponds to variant dbSNP:rs6571751EnsemblClinVar.	1
Natural variantⁱVAR_065722	318	A → V in a patient with primary open angle glaucoma. 1 Publication	1
Natural variantⁱVAR_065723	363	R → T in a patient with normal tension glaucoma. 1 Publication	1
Natural variantⁱVAR_067184	432	S → F Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs190985984Ensembl.	1
Natural variantⁱVAR_017831	547	A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar.	1
Natural variantⁱVAR_065724	585	P → S1 PublicationCorresponds to variant dbSNP:rs147586703EnsemblClinVar.	1
Natural variantⁱVAR_065725	589	Q → H Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs34067949EnsemblClinVar.	1
Natural variantⁱVAR_065726	598	R → Q Found in patients with primary open angle glaucoma and juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs74034910EnsemblClinVar.	1
Natural variantⁱVAR_017832	601	S → L. Corresponds to variant dbSNP:rs3748360Ensembl.	1
Natural variantⁱVAR_067185	601	S → W Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs3748360Ensembl.	1
Natural variantⁱVAR_065727	603	C → S1 Publication	1
Natural variantⁱVAR_067186	631	H → P in LCA6. 1 Publication	1
Natural variantⁱVAR_065728	635	A → G in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs200325360EnsemblClinVar.	1
Natural variantⁱVAR_065729	638	T → I1 PublicationCorresponds to variant dbSNP:rs1010290273Ensembl.	1
Natural variantⁱVAR_017833	746	G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar.	1
Natural variantⁱVAR_065730	764	A → V Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758652031Ensembl.	1
Natural variantⁱVAR_065731	806	T → I in a patient with primary open angle glaucoma who also carries variant K-352 in MYOC; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs142796310EnsemblClinVar.	1
Natural variantⁱVAR_065732	812	R → H Does not affect the interaction with NPHP4. 1 Publication	1
Natural variantⁱVAR_065733	814	R → L1 PublicationCorresponds to variant dbSNP:rs372647080Ensembl.	1
Natural variantⁱVAR_017834	827	R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar.	1
Natural variantⁱVAR_065734	837	A → G in a patient with primary open angle glaucoma and a patient with juvenile open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs373515194Ensembl.	1
Natural variantⁱVAR_065735	838	I → V in a patient with normal tension glaucoma and a patient with primary open angle glaucoma; affects the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs772480252Ensembl.	1
Natural variantⁱVAR_065736	841	A → T1 Publication	1
Natural variantⁱVAR_065737	852	R → Q1 PublicationCorresponds to variant dbSNP:rs181758389EnsemblClinVar.	1
Natural variantⁱVAR_076792	876	D → G Impairs interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs61751274EnsemblClinVar.	1
Natural variantⁱVAR_065738	883	G → D1 Publication	1
Natural variantⁱVAR_057773	960	A → P. Corresponds to variant dbSNP:rs35810926EnsemblClinVar.	1
Natural variantⁱVAR_017835	1033	E → Q4 PublicationsCorresponds to variant dbSNP:rs3748361EnsemblClinVar.	1
Natural variantⁱVAR_067187	1057	H → L Found in a patient associated with LCA6. 1 PublicationCorresponds to variant dbSNP:rs201521970Ensembl.	1
Natural variantⁱVAR_017836	1114	D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar.	1
Natural variantⁱVAR_067188	1130	E → Q Found in a patient with LCA6. 1 Publication	1
Natural variantⁱVAR_076823	1211	V → E in LCA6. 2 Publications	1
Natural variantⁱVAR_057774	1240	G → E. Corresponds to variant dbSNP:rs34725281EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_009522	1 – 641	Missing in isoform 3. 1 PublicationAdd BLAST	641
Alternative sequenceⁱVSP_009521	1 – 617	Missing in isoform 2. 1 PublicationAdd BLAST	617
Alternative sequenceⁱVSP_009520	1 – 384	Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST	384
Alternative sequenceⁱVSP_009519	1 – 358	Missing in isoform 4. 1 PublicationAdd BLAST	358
Alternative sequenceⁱVSP_009523	359 – 383	EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4. 1 PublicationAdd BLAST	25
Alternative sequenceⁱVSP_009524	588 – 903	Missing in isoform 4. 1 PublicationAdd BLAST	316
Alternative sequenceⁱVSP_009525	618 – 623	ISLLHQ → MTFQHL in isoform 2. 1 Publication	6
Alternative sequenceⁱVSP_009526	642 – 673	LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3. 1 PublicationAdd BLAST	32
Alternative sequenceⁱVSP_009527	966 – 1286	Missing in isoform 6. 1 PublicationAdd BLAST	321

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF227257 mRNA Translation: AAG10246.1 AF265666 mRNA Translation: AAG10000.1 AF265667 mRNA Translation: AAG10001.1 AF260257 mRNA Translation: AAF91371.1 AJ417048 AJ417066 Genomic DNA Translation: CAD01136.1 AJ417067 mRNA Translation: CAD01135.1 AL135744 Genomic DNA No translation available. BC039089 mRNA Translation: AAH39089.1 BX571740 mRNA Translation: CAE11866.1 Different initiation.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45080.1 [Q96KN7-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_065099.3, NM_020366.3 [Q96KN7-1]
UniGeneⁱ	Hs.126035

Genome annotation databases

Ensemblⁱ	ENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4] ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1]
GeneIDⁱ	57096
KEGGⁱ	hsa:57096
UCSC genome browser More...UCSCⁱ	uc001wag.4 human [Q96KN7-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96KN7	Isoform 6 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		581	UniRef100_Q96KN7
Isoform 5 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		902

Protein	Similar proteins		Species	Score	Length	Source
Q96KN7	Isoform 6 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		581	UniRef90_Q96KN7
RPGR interacting protein 1		PANTR		1287
RPGR interacting protein 1		GORGO		1287
RPGRIP1 isoform 8		PONAB		1286
Uncharacterized protein		AOTNA		1285
+15
Q96KN7-4	cDNA FLJ50048, highly similar to X-linked retinitis pigmentosa GTPaseregulator-interacting protein 1		HUMAN		612	UniRef90_Q96KN7-4
RPGRIP1 isoform 1		PONAB		612
RPGRIP1 isoform 5		PANTR		612
Testis cDNA, clone: QtsA-18670, similar to human retinitis pigmentosa GTPase regulator interactingprotein 1 (RPGRIP1)		MACFA		608
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		PANTR		612
+2

Protein	Similar proteins		Species	Score	Length	Source
Q96KN7	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		BOVIN		1221	UniRef50_Q96KN7
Isoform 6 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		581
RPGR interacting protein 1		PANTR		1287
RPGR interacting protein 1		GORGO		1287
RPGRIP1 isoform 8		PONAB		1286
+181
Q96KN7-2	Isoform 3 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		645	UniRef50_Q96KN7-2
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		PANTR		612
RPGRIP1 isoform 1		PONAB		612
Testis cDNA, clone: QtsA-18670, similar to human retinitis pigmentosa GTPase regulator interactingprotein 1 (RPGRIP1)		MACFA		608
RPGR interacting protein 1		FELCA		597
+8
Q96KN7-3	Isoform 2 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		669	UniRef50_Q96KN7-2
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		PANTR		612
RPGRIP1 isoform 1		PONAB		612
Testis cDNA, clone: QtsA-18670, similar to human retinitis pigmentosa GTPase regulator interactingprotein 1 (RPGRIP1)		MACFA		608
RPGR interacting protein 1		FELCA		597
+8
Q96KN7-4	Isoform 2 of X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		HUMAN		669	UniRef50_Q96KN7-2
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1		PANTR		612
RPGRIP1 isoform 1		PONAB		612
Testis cDNA, clone: QtsA-18670, similar to human retinitis pigmentosa GTPase regulator interactingprotein 1 (RPGRIP1)		MACFA		608
RPGR interacting protein 1		FELCA		597
+8

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF227257 mRNA Translation: AAG10246.1 AF265666 mRNA Translation: AAG10000.1 AF265667 mRNA Translation: AAG10001.1 AF260257 mRNA Translation: AAF91371.1 AJ417048 AJ417066 Genomic DNA Translation: CAD01136.1 AJ417067 mRNA Translation: CAD01135.1 AL135744 Genomic DNA No translation available. BC039089 mRNA Translation: AAH39089.1 BX571740 mRNA Translation: CAE11866.1 Different initiation.
CCDSⁱ	CCDS45080.1 [Q96KN7-1]
RefSeqⁱ	NP_065099.3, NM_020366.3 [Q96KN7-1]
UniGeneⁱ	Hs.126035

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4QAM	X-ray	1.83	B	1091-1286	[»]
ProteinModelPortalⁱ	Q96KN7
SMRⁱ	Q96KN7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	121364, 63 interactors
IntActⁱ	Q96KN7, 59 interactors
STRINGⁱ	9606.ENSP00000382895

PTM databases

iPTMnetⁱ	Q96KN7
PhosphoSitePlusⁱ	Q96KN7

Polymorphism and mutation databases

BioMutaⁱ	RPGRIP1
DMDMⁱ	296452882

Proteomic databases

MaxQBⁱ	Q96KN7
PaxDbⁱ	Q96KN7
PeptideAtlasⁱ	Q96KN7
PRIDEⁱ	Q96KN7
ProteomicsDBⁱ	77089 77090 [Q96KN7-2] 77091 [Q96KN7-3] 77092 [Q96KN7-4] 77093 [Q96KN7-5] 77094 [Q96KN7-6]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	57096
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4] ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1]
GeneIDⁱ	57096
KEGGⁱ	hsa:57096
UCSCⁱ	uc001wag.4 human [Q96KN7-1]

Organism-specific databases

CTDⁱ	57096
DisGeNETⁱ	57096
EuPathDBⁱ	HostDB:ENSG00000092200.12
GeneCardsⁱ	RPGRIP1
GeneReviewsⁱ	RPGRIP1
HGNCⁱ	HGNC:13436 RPGRIP1
HPAⁱ	HPA042955 HPA060190
MalaCardsⁱ	RPGRIP1
MIMⁱ	605446 gene 608194 phenotype 613826 phenotype
neXtProtⁱ	NX_Q96KN7
OpenTargetsⁱ	ENSG00000092200
Orphanetⁱ	1872 Cone rod dystrophy 65 Leber congenital amaurosis 564 Meckel syndrome
PharmGKBⁱ	PA34657
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IGZN Eukaryota ENOG410YNUX LUCA
GeneTreeⁱ	ENSGT00520000055620
HOVERGENⁱ	HBG060744
InParanoidⁱ	Q96KN7
KOⁱ	K16512
OMAⁱ	KSPEKMW
OrthoDBⁱ	EOG091G03K7
PhylomeDBⁱ	Q96KN7
TreeFamⁱ	TF328883

Enzyme and pathway databases

SIGNORⁱ	Q96KN7

SIGNORⁱ

Q96KN7

Miscellaneous databases

ChiTaRSⁱ	RPGRIP1 human
GeneWikiⁱ	RPGRIP1
GenomeRNAiⁱ	57096
Protein Ontology More...PROⁱ	PR:Q96KN7
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000092200 Expressed in 96 organ(s), highest expression level in testis
CleanExⁱ	HS_RPGRIP1
ExpressionAtlasⁱ	Q96KN7 baseline and differential
Genevisibleⁱ	Q96KN7 HS

Family and domain databases

Gene3Dⁱ	2.60.40.150, 3 hits
InterProⁱ	View protein in InterPro IPR021656 C2-C2_1 IPR000008 C2_dom IPR035892 C2_domain_sf IPR031134 RPGRIP1 IPR031139 RPGRIP1_fam
PANTHERⁱ	PTHR14240 PTHR14240, 1 hit PTHR14240:SF3 PTHR14240:SF3, 1 hit
Pfamⁱ	View protein in Pfam PF00168 C2, 1 hit PF11618 C2-C2_1, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	RPGR1_HUMAN
Accessionⁱ	Q96KN7Primary (citable) accession number: Q96KN7 Secondary accession number(s): Q7Z2W6 Q9NR40
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 1, 2004
	Last sequence update:	May 18, 2010
	Last modified:	September 12, 2018
	This is version 154 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
SIMILARITY comments
Index of protein domains and families
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - Q96KN7 (RPGR1_HUMAN)

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X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Enzyme and pathway databases

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Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Coiled coil

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ