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UniProtKB - Q96KN7 (RPGR1_HUMAN)

Entry version 166 (11 Dec 2019)
Sequence version 2 (18 May 2010)
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Protein

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Gene

RPGRIP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96KN7

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Short name:
RPGR-interacting protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RPGRIP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000092200.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:13436 RPGRIP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605446 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96KN7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_067186631H → P in LCA6. 1 Publication1
Natural variantiVAR_017833746G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar.1
Natural variantiVAR_0178361114D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar.1
Natural variantiVAR_0768231211V → E in LCA6. 2 Publications1
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017831547A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar.1
Natural variantiVAR_017834827R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar.1
Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the progressive degeneration of retinal ganglion neurons (PubMed:21224891).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1121E → A: Nearly abolishes interaction with RPGR; when associated with A-1174 and A-1245. 1 Publication1
Mutagenesisi1121E → K: Decreases interaction with RPGR. 1 Publication1
Mutagenesisi1174H → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1245. 1 Publication1
Mutagenesisi1174H → D: Abolishes interaction with RPGR. 1 Publication1
Mutagenesisi1245E → A: Nearly abolishes interaction with RPGR; when associated with A-1121 and A-1174. 1 Publication1
Mutagenesisi1245E → K: No effect on interaction with RPGR. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		57096

MalaCards human disease database

More...MalaCardsi		RPGRIP1
MIMi608194 phenotype
613826 phenotype

Open Targets

More...OpenTargetsi		ENSG00000092200

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		1872 Cone rod dystrophy
65 Leber congenital amaurosis
564 Meckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34657

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96KN7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RPGRIP1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452882

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000974321 – 1286X-linked retinitis pigmentosa GTPase regulator-interacting protein 1Add BLAST1286

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96KN7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96KN7

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96KN7

PeptideAtlas

More...PeptideAtlasi		Q96KN7

PRoteomics IDEntifications database

More...PRIDEi		Q96KN7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77089 [Q96KN7-1]
77090 [Q96KN7-2]
77091 [Q96KN7-3]
77092 [Q96KN7-4]
77093 [Q96KN7-5]
77094 [Q96KN7-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96KN7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96KN7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000092200 Expressed in 96 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96KN7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96KN7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA042955
HPA060190

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms homodimers and elongated homopolymers (By similarity).

Interacts with RPGR (PubMed:10958648, PubMed:10958647, PubMed:24981858).

Interacts with NPHP4 (PubMed:16339905, PubMed:21224891).

Interacts with NEK4 (PubMed:21685204).

Interacts with SPATA7 (PubMed:25398945).

Interacts with CEP290/NPHP6; mediating the association between RPGR and CEP290/NPHP6 (PubMed:20200501).

By similarity8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		121364, 65 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96KN7

Protein interaction database and analysis system

More...IntActi		Q96KN7, 62 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000382895

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96KN7 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11286
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q96KN7

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini801 – 890C2Add BLAST90

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1091 – 1281Interaction with RPGR1 PublicationAdd BLAST191

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili294 – 584Sequence analysisAdd BLAST291

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<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

Belongs to the RPGRIP1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IGZN Eukaryota
ENOG410YNUX LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00520000055620

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96KN7

KEGG Orthology (KO)

More...KOi		K16512

Identification of Orthologs from Complete Genome Data

More...OMAi		NTLAAGW

Database of Orthologous Groups

More...OrthoDBi		152378at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96KN7

TreeFam database of animal gene trees

More...TreeFami		TF328883

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.150, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR031134 RPGRIP1
IPR041091 RPGRIP1_C
IPR031139 RPGRIP1_fam

The PANTHER Classification System

More...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
PF18111 RPGR1_C, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i00AC1C2A0AC82253
GO
Isoform 2 (identifier: Q96KN7-2) [UniParc]FASTAAdd 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

Show »
Length:669
Mass (Da):76,372
Checksum:iF27A364596947FA9
GO
Isoform 3 (identifier: Q96KN7-3) [UniParc]FASTAAdd 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

Show »
Length:645
Mass (Da):74,179
Checksum:i231F8AE6557EEEDB
GO
Isoform 4 (identifier: Q96KN7-4) [UniParc]FASTAAdd to basket

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

Show »
Length:612
Mass (Da):70,051
Checksum:iC444C7EBA35D4918
GO
Isoform 5 (identifier: Q96KN7-5) [UniParc]FASTAAdd to basket

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

Show »
Length:902
Mass (Da):103,124
Checksum:i2A9013EC2A8319CD
GO
Isoform 6 (identifier: Q96KN7-6) [UniParc]FASTAAdd to basket

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

Show »
Length:581
Mass (Da):66,319
Checksum:i481BE9E573F48A33
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V3F7G3V3F7_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
1,248Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V236G3V236_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
943Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3I7G3V3I7_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
761Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V577G3V577_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJK6H0YJK6_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
134Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YIY1H0YIY1_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
143Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ18H0YJ18_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
26Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ99H0YJ99_HUMAN
X-linked retinitis pigmentosa GTPas...
RPGRIP1
59Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

The sequence CAE11866 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti539Missing in AAG10246 (PubMed:10958648).Curated1
Sequence conflicti554 – 555HK → SQR in AAG10246 (PubMed:10958648).Curated2
Sequence conflicti611G → R in CAE11866 (PubMed:17974005).Curated1
Sequence conflicti1159P → L in CAE11866 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06572032M → L1 Publication1
Natural variantiVAR_05777296P → Q1 PublicationCorresponds to variant dbSNP:rs1040904EnsemblClinVar.1
Natural variantiVAR_065721135S → R1 Publication1
Natural variantiVAR_017830192K → E1 PublicationCorresponds to variant dbSNP:rs6571751EnsemblClinVar.1
Natural variantiVAR_065722318A → V in a patient with primary open angle glaucoma. 1 PublicationCorresponds to variant dbSNP:rs1325466987Ensembl.1
Natural variantiVAR_065723363R → T in a patient with normal tension glaucoma. 1 Publication1
Natural variantiVAR_067184432S → F Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs190985984Ensembl.1
Natural variantiVAR_017831547A → S in CORD13. 2 PublicationsCorresponds to variant dbSNP:rs10151259EnsemblClinVar.1
Natural variantiVAR_065724585P → S1 PublicationCorresponds to variant dbSNP:rs147586703EnsemblClinVar.1
Natural variantiVAR_065725589Q → H Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs34067949EnsemblClinVar.1
Natural variantiVAR_065726598R → 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_017832601S → L. Corresponds to variant dbSNP:rs3748360Ensembl.1
Natural variantiVAR_067185601S → W Found in a patient with LCA6. 1 PublicationCorresponds to variant dbSNP:rs3748360Ensembl.1
Natural variantiVAR_065727603C → S1 Publication1
Natural variantiVAR_067186631H → P in LCA6. 1 Publication1
Natural variantiVAR_065728635A → 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_065729638T → I1 PublicationCorresponds to variant dbSNP:rs1010290273Ensembl.1
Natural variantiVAR_017833746G → E in LCA6. 1 PublicationCorresponds to variant dbSNP:rs61751268EnsemblClinVar.1
Natural variantiVAR_065730764A → V Does not affect the interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758652031Ensembl.1
Natural variantiVAR_065731806T → 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_065732812R → H Does not affect the interaction with NPHP4. 1 Publication1
Natural variantiVAR_065733814R → L1 PublicationCorresponds to variant dbSNP:rs372647080Ensembl.1
Natural variantiVAR_017834827R → L in CORD13. 1 PublicationCorresponds to variant dbSNP:rs28937883EnsemblClinVar.1
Natural variantiVAR_065734837A → 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_065735838I → 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_065736841A → T1 Publication1
Natural variantiVAR_065737852R → Q1 PublicationCorresponds to variant dbSNP:rs181758389EnsemblClinVar.1
Natural variantiVAR_076792876D → G Impairs interaction with NPHP4. 1 PublicationCorresponds to variant dbSNP:rs61751274EnsemblClinVar.1
Natural variantiVAR_065738883G → D1 Publication1
Natural variantiVAR_057773960A → P. Corresponds to variant dbSNP:rs35810926EnsemblClinVar.1
Natural variantiVAR_0178351033E → Q4 PublicationsCorresponds to variant dbSNP:rs3748361EnsemblClinVar.1
Natural variantiVAR_0671871057H → L Found in a patient associated with LCA6. 1 PublicationCorresponds to variant dbSNP:rs201521970Ensembl.1
Natural variantiVAR_0178361114D → G in LCA6; no effect on interaction with RPGR. 2 PublicationsCorresponds to variant dbSNP:rs17103671EnsemblClinVar.1
Natural variantiVAR_0671881130E → Q Found in a patient with LCA6. 1 Publication1
Natural variantiVAR_0768231211V → E in LCA6. 2 Publications1
Natural variantiVAR_0577741240G → E. Corresponds to variant dbSNP:rs34725281EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0095221 – 641Missing in isoform 3. 1 PublicationAdd BLAST641
Alternative sequenceiVSP_0095211 – 617Missing in isoform 2. 1 PublicationAdd BLAST617
Alternative sequenceiVSP_0095201 – 384Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST384
Alternative sequenceiVSP_0095191 – 358Missing in isoform 4. 1 PublicationAdd BLAST358
Alternative sequenceiVSP_009523359 – 383EFQER…DKLLE → MLKLDNKDVISHPLGYPSES LLSIA in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_009524588 – 903Missing in isoform 4. 1 PublicationAdd BLAST316
Alternative sequenceiVSP_009525618 – 623ISLLHQ → MTFQHL in isoform 2. 1 Publication6
Alternative sequenceiVSP_009526642 – 673LAQAG…SVGPQ → MLLMAPDRCRYVWKHCQPME MRIKWIFLCCIR in isoform 3. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_009527966 – 1286Missing in isoform 6. 1 PublicationAdd BLAST321

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57096

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57096

UCSC genome browser

More...UCSCi		uc001wag.4 human [Q96KN7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS45080.1 [Q96KN7-1]
RefSeqiNP_065099.3, NM_020366.3 [Q96KN7-1]

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 entryMethodResolution (Å)ChainPositionsPDBsum
4QAMX-ray1.83B1091-1286[»]
SMRiQ96KN7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi121364, 65 interactors
CORUMiQ96KN7
IntActiQ96KN7, 62 interactors
STRINGi9606.ENSP00000382895

PTM databases

iPTMnetiQ96KN7
PhosphoSitePlusiQ96KN7

Polymorphism and mutation databases

BioMutaiRPGRIP1
DMDMi296452882

Proteomic databases

MassIVEiQ96KN7
MaxQBiQ96KN7
PaxDbiQ96KN7
PeptideAtlasiQ96KN7
PRIDEiQ96KN7
ProteomicsDBi77089 [Q96KN7-1]
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

Genome annotation databases

EnsembliENST00000382933; ENSP00000372391; ENSG00000092200 [Q96KN7-4]
ENST00000400017; ENSP00000382895; ENSG00000092200 [Q96KN7-1]
GeneIDi57096
KEGGihsa:57096
UCSCiuc001wag.4 human [Q96KN7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57096
DisGeNETi57096
EuPathDBiHostDB:ENSG00000092200.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		RPGRIP1
HGNCiHGNC:13436 RPGRIP1
HPAiHPA042955
HPA060190
MalaCardsiRPGRIP1
MIMi605446 gene
608194 phenotype
613826 phenotype
neXtProtiNX_Q96KN7
OpenTargetsiENSG00000092200
Orphaneti1872 Cone rod dystrophy
65 Leber congenital amaurosis
564 Meckel syndrome
PharmGKBiPA34657

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGZN Eukaryota
ENOG410YNUX LUCA
GeneTreeiENSGT00520000055620
InParanoidiQ96KN7
KOiK16512
OMAiNTLAAGW
OrthoDBi152378at2759
PhylomeDBiQ96KN7
TreeFamiTF328883

Enzyme and pathway databases

SIGNORiQ96KN7

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		RPGRIP1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RPGRIP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		57096
PharosiQ96KN7 Tbio

Protein Ontology

More...PROi		PR:Q96KN7
RNActiQ96KN7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000092200 Expressed in 96 organ(s), highest expression level in testis
ExpressionAtlasiQ96KN7 baseline and differential
GenevisibleiQ96KN7 HS

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR021656 C2-C2_1
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR031134 RPGRIP1
IPR041091 RPGRIP1_C
IPR031139 RPGRIP1_fam
PANTHERiPTHR14240 PTHR14240, 1 hit
PTHR14240:SF3 PTHR14240:SF3, 1 hit
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF11618 C2-C2_1, 1 hit
PF18111 RPGR1_C, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRPGR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96KN7
Secondary accession number(s): Q7Z2W6
, Q8IXV5, Q96QA8, Q9HB94, Q9HB95, Q9HBK6, Q9NR40
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: May 18, 2010
Last modified: December 11, 2019
This is version 166 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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