CRX

Functionⁱ

Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.1 Publication

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
DNA bindingⁱ	39 – 98	HomeoboxPROSITE-ProRule annotationAdd BLAST		60

GO - Molecular functionⁱ

DNA-binding transcription factor activity Source: UniProtKB
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
leucine zipper domain binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 10887186
nuclear hormone receptor binding Source: UniProtKB
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific
Source: NTNU_SB
Inferred from direct assayⁱ
- 10625658
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- 10625658

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

animal organ morphogenesis
Source: ProtInc
Traceable author statementⁱ
- 9390563
circadian rhythm Source: Ensembl
positive regulation of photoreceptor cell differentiation Source: Ensembl
positive regulation of transcription by RNA polymerase II
Source: NTNU_SB
Inferred from direct assayⁱ
- 10625658
regulation of transcription, DNA-templated Source: UniProtKB
response to stimulus Source: UniProtKB-KW
visual perception
Source: ProtInc
Traceable author statementⁱ
- 9390563

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, Developmental protein, DNA-binding
Biological process	Differentiation, Neurogenesis, Sensory transduction, Transcription, Transcription regulation, Vision

Enzyme and pathway databases

SIGNORⁱ	O43186

SIGNORⁱ

O43186

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Cone-rod homeobox protein
Gene namesⁱ	Name:CRX Synonyms:CORD2
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 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000105392.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:2383 CRX
MIMⁱ	602225 gene
neXtProtⁱ	NX_O43186

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Leber congenital amaurosis 7 (LCA7)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_067189	42	E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar.	1
Natural variantⁱVAR_063919	88	K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication	1
Natural variantⁱVAR_008714	90	R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar.	1
Natural variantⁱVAR_007947	146 – 149	Missing in LCA7. 1 Publication	4

Cone-rod dystrophy 2 (CORD2)4 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	Length
Natural variantⁱVAR_003750	41	R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar.	1
Natural variantⁱVAR_003751	80	E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar.	1
Natural variantⁱVAR_007949	242	V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459EnsemblClinVar.	1

Retinitis pigmentosa (RP)3 Publications

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

Disease descriptionA 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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_007946	41	R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar.		1
Natural variantⁱVAR_076958	115	R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl.		1

Keywords - Diseaseⁱ

Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1406
GeneReviewsⁱ	CRX
MalaCards human disease database More...MalaCardsⁱ	CRX
MIMⁱ	120970 phenotype 268000 phenotype 613829 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000105392
Orphanetⁱ	1872 Cone rod dystrophy 65 Leber congenital amaurosis 791 Retinitis pigmentosa
PharmGKBⁱ	PA26903

Polymorphism and mutation databases

BioMutaⁱ	CRX

BioMutaⁱ

CRX

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000048862	1 – 299	Cone-rod homeobox proteinAdd BLAST		299

Proteomic databases

PaxDbⁱ	O43186
PeptideAtlas More...PeptideAtlasⁱ	O43186
PRIDEⁱ	O43186
ProteomicsDBⁱ	48803

PTM databases

iPTMnetⁱ	O43186
PhosphoSitePlusⁱ	O43186

Expressionⁱ

Tissue specificityⁱ

Retina.

Gene expression databases

Bgeeⁱ	ENSG00000105392 Expressed in 24 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_CRX
ExpressionAtlasⁱ	O43186 baseline and differential
Genevisibleⁱ	O43186 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA036762 HPA036763

HPAⁱ

HPA036762
HPA036763

Interactionⁱ

Subunit structureⁱ

Interacts (via the homeobox) with NRL (via the leucine-zipper domain). Interacts with PDC, RAX2, RORB and SCA7.2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ABI2	Q9NYB9	3	EBI-748171,EBI-743598
ACBD4	K7EM05	3	EBI-748171,EBI-16431307
AES	Q08117	3	EBI-748171,EBI-717810
ATG12	O94817	3	EBI-748171,EBI-746742
BANP	A0A0S2Z5G4	3	EBI-748171,EBI-16429704
BANP	B4DE54	3	EBI-748171,EBI-16429313
BANP	Q8N9N5-2	5	EBI-748171,EBI-11524452
BANP	Q8N9N5-7	3	EBI-748171,EBI-16429296
C1orf109	Q9NX04	3	EBI-748171,EBI-8643161
C9orf72	Q96LT7	3	EBI-748171,EBI-2961725
CA8	P35219	6	EBI-748171,EBI-718700
CCNC	P24863	3	EBI-748171,EBI-395261
EIF5A	P63241	3	EBI-748171,EBI-373150
GCM2	O75603	8	EBI-748171,EBI-10188645
GUCD1	Q96NT3	3	EBI-748171,EBI-8293751
HGS	O14964	5	EBI-748171,EBI-740220
KIAA0141	Q14154	3	EBI-748171,EBI-2805660
KLHL32	Q5THT1	3	EBI-748171,EBI-10247181
LARP4	Q71RC2-6	3	EBI-748171,EBI-10255841
LONRF1	Q17RB8	4	EBI-748171,EBI-2341787
M1AP	Q8TC57	3	EBI-748171,EBI-748182
MLLT6	Q6P2C6	3	EBI-748171,EBI-5773143
NIP7	Q9Y221	3	EBI-748171,EBI-749003
OSGIN1	Q9UJX0	3	EBI-748171,EBI-9057006
PID1	Q7Z2X4	3	EBI-748171,EBI-10256685
PPP1R16B	Q96T49	3	EBI-748171,EBI-10293968
PRKAB2	O43741	5	EBI-748171,EBI-1053424
PSMB10	P40306	3	EBI-748171,EBI-603329
QRICH1	Q2TAL8	5	EBI-748171,EBI-2798044
ROR2	A1L4F5	3	EBI-748171,EBI-10172778
SMAD3	P84022	3	EBI-748171,EBI-347161
SMUG1	Q53HV7	3	EBI-748171,EBI-749970
SOX5	P35711	3	EBI-748171,EBI-3505701
STK16	O75716	3	EBI-748171,EBI-749295
SZT2	Q5T011-5	3	EBI-748171,EBI-10245139
tax	P03410	3	EBI-748171,EBI-9676218	From Human T-cell leukemia virus 2.
UBXN2B	Q14CS0	3	EBI-748171,EBI-1993619
ZNF688	A0A0S2Z6P0	3	EBI-748171,EBI-16429989

GO - Molecular functionⁱ

leucine zipper domain binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 10887186
nuclear hormone receptor binding Source: UniProtKB

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	107796, 49 interactors
IntActⁱ	O43186, 105 interactors
Molecular INTeraction database More...MINTⁱ	O43186
STRINGⁱ	9606.ENSP00000221996

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43186
SMRⁱ	O43186
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the paired homeobox family.Curated

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG2251 Eukaryota ENOG4111XIJ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00930000150828
HOGENOMⁱ	HOG000082677
HOVERGENⁱ	HBG004028
InParanoidⁱ	O43186
KEGG Orthology (KO) More...KOⁱ	K09337
OMAⁱ	VDLMHPA
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0K9K
PhylomeDBⁱ	O43186
TreeFamⁱ	TF351179

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR032966 CRX IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR013851 Otx_TF_C
PANTHERⁱ	PTHR24329:SF331 PTHR24329:SF331, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit PF03529 TF_Otx, 1 hit
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

O43186-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MMAYMNPGPH YSVNALALSG PSVDLMHQAV PYPSAPRKQR RERTTFTRSQ 
        60         70         80         90        100
LEELEALFAK TQYPDVYARE EVALKINLPE SRVQVWFKNR RAKCRQQRQQ 
       110        120        130        140        150
QKQQQQPPGG QAKARPAKRK AGTSPRPSTD VCPDPLGISD SYSPPLPGPS 
       160        170        180        190        200
GSPTTAVATV SIWSPASESP LPEAQRAGLV ASGPSLTSAP YAMTYAPASA 
       210        220        230        240        250
FCSSPSAYGS PSSYFSGLDP YLSPMVPQLG GPALSPLSGP SVGPSLAQSP 
       260        270        280        290 
TSLSGQSYGA YSPVDSLEFK DPTGTWKFTY NPMDPLDYKD QSAWKFQIL

Length:299

Mass (Da):32,261

Last modified:June 1, 1998 - v1

Checksum:ⁱ46747C09277A0864

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H3BUU7	H3BUU7_HUMAN	Cone-rod homeobox protein Cone-rod homeobox protein	CRX	57	Annotation score:
A0A087WTS9	A0A087WTS9_HUMAN	Cone-rod homeobox protein Cone-rod homeobox protein	CRX	41	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_076956	10	H → D1 PublicationCorresponds to variant dbSNP:rs139340178EnsemblClinVar.	1
Natural variantⁱVAR_007946	41	R → Q in RP. 3 PublicationsCorresponds to variant dbSNP:rs61748436EnsemblClinVar.	1
Natural variantⁱVAR_003750	41	R → W in CORD2; exhibits reduced DNA binding, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894672EnsemblClinVar.	1
Natural variantⁱVAR_067189	42	E → K in LCA7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224863EnsemblClinVar.	1
Natural variantⁱVAR_076957	66	V → I1 PublicationCorresponds to variant dbSNP:rs61748438EnsemblClinVar.	1
Natural variantⁱVAR_003751	80	E → A in CORD2. 2 PublicationsCorresponds to variant dbSNP:rs104894671EnsemblClinVar.	1
Natural variantⁱVAR_063919	88	K → N in LCA7; reduces NRL transactivation and reduces steady state levels of CRX and NRL; altered localization to the cytoplasm. 1 Publication	1
Natural variantⁱVAR_008714	90	R → W in LCA7; reduced DNA-binding ability, transcriptional synergy and interaction with NRL. 2 PublicationsCorresponds to variant dbSNP:rs104894673EnsemblClinVar.	1
Natural variantⁱVAR_076958	115	R → Q in RP; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs750727986Ensembl.	1
Natural variantⁱVAR_008282	122	G → D2 PublicationsCorresponds to variant dbSNP:rs61748441EnsemblClinVar.	1
Natural variantⁱVAR_036438	141	S → F in a breast cancer sample; somatic mutation. 1 Publication	1
Natural variantⁱVAR_007947	146 – 149	Missing in LCA7. 1 Publication	4
Natural variantⁱVAR_067190	154	T → A1 PublicationCorresponds to variant dbSNP:rs763651232Ensembl.	1
Natural variantⁱVAR_007948	158	A → T2 PublicationsCorresponds to variant dbSNP:rs61748445EnsemblClinVar.	1
Natural variantⁱVAR_007949	242	V → M in CORD2. 1 PublicationCorresponds to variant dbSNP:rs61748459EnsemblClinVar.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF024711 Genomic DNA Translation: AAB88418.1 BT007364 mRNA Translation: AAP36028.1 AC008745 Genomic DNA No translation available. BC016664 mRNA No translation available. BC053672 mRNA No translation available. DQ426868 mRNA Translation: ABD90533.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12706.1
NCBI Reference Sequences More...RefSeqⁱ	NP_000545.1, NM_000554.5
UniGeneⁱ	Hs.617342 Hs.633434 Hs.639114

Genome annotation databases

Ensemblⁱ	ENST00000221996; ENSP00000221996; ENSG00000105392 ENST00000539067; ENSP00000445565; ENSG00000105392
GeneIDⁱ	1406
KEGGⁱ	hsa:1406
UCSC genome browser More...UCSCⁱ	uc002phq.5 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43186	Cone-rod homeobox		MACFA		299	UniRef100_O43186
CRX isoform 3		PONAB		299
Uncharacterized protein		CERAT		299
Uncharacterized protein		RHIRO		299
Uncharacterized protein		PAPAN		299
+5

Protein	Similar proteins		Species	Score	Length	Source
O43186	Cone-rod homeobox protein		MOUSE		299	UniRef90_O43186
Cone-rod homeobox		MACFA		299
CRX isoform 3		PONAB		299
Uncharacterized protein		CERAT		299
Uncharacterized protein		RHIRO		299
+31

Protein	Similar proteins		Species	Score	Length	Source
O43186	Cone-rod homeobox protein		MOUSE		299	UniRef50_O43186
Cone-rod homeobox protein		CANLF		299
Cone-rod homeobox protein		BOVIN		299
Cone-rod homeobox		MACFA		299
CRX isoform 3		PONAB		299
+171

Cross-referencesⁱ

Web resourcesⁱ

Mutations of the CRX gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF024711 Genomic DNA Translation: AAB88418.1 BT007364 mRNA Translation: AAP36028.1 AC008745 Genomic DNA No translation available. BC016664 mRNA No translation available. BC053672 mRNA No translation available. DQ426868 mRNA Translation: ABD90533.1
CCDSⁱ	CCDS12706.1
RefSeqⁱ	NP_000545.1, NM_000554.5
UniGeneⁱ	Hs.617342 Hs.633434 Hs.639114

3D structure databases

ProteinModelPortalⁱ	O43186
SMRⁱ	O43186
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107796, 49 interactors
IntActⁱ	O43186, 105 interactors
MINTⁱ	O43186
STRINGⁱ	9606.ENSP00000221996

PTM databases

iPTMnetⁱ	O43186
PhosphoSitePlusⁱ	O43186

Polymorphism and mutation databases

BioMutaⁱ	CRX

BioMutaⁱ

CRX

Proteomic databases

PaxDbⁱ	O43186
PeptideAtlasⁱ	O43186
PRIDEⁱ	O43186
ProteomicsDBⁱ	48803

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	1406
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000221996; ENSP00000221996; ENSG00000105392 ENST00000539067; ENSP00000445565; ENSG00000105392
GeneIDⁱ	1406
KEGGⁱ	hsa:1406
UCSCⁱ	uc002phq.5 human

Organism-specific databases

CTDⁱ	1406
DisGeNETⁱ	1406
EuPathDBⁱ	HostDB:ENSG00000105392.15
GeneCardsⁱ	CRX
GeneReviewsⁱ	CRX
HGNCⁱ	HGNC:2383 CRX
HPAⁱ	HPA036762 HPA036763
MalaCardsⁱ	CRX
MIMⁱ	120970 phenotype 268000 phenotype 602225 gene 613829 phenotype
neXtProtⁱ	NX_O43186
OpenTargetsⁱ	ENSG00000105392
Orphanetⁱ	1872 Cone rod dystrophy 65 Leber congenital amaurosis 791 Retinitis pigmentosa
PharmGKBⁱ	PA26903
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2251 Eukaryota ENOG4111XIJ LUCA
GeneTreeⁱ	ENSGT00930000150828
HOGENOMⁱ	HOG000082677
HOVERGENⁱ	HBG004028
InParanoidⁱ	O43186
KOⁱ	K09337
OMAⁱ	VDLMHPA
OrthoDBⁱ	EOG091G0K9K
PhylomeDBⁱ	O43186
TreeFamⁱ	TF351179

Enzyme and pathway databases

SIGNORⁱ	O43186

SIGNORⁱ

O43186

Miscellaneous databases

ChiTaRSⁱ	CRX human
GeneWikiⁱ	CRX_(gene)
GenomeRNAiⁱ	1406
Protein Ontology More...PROⁱ	PR:O43186
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000105392 Expressed in 24 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_CRX
ExpressionAtlasⁱ	O43186 baseline and differential
Genevisibleⁱ	O43186 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit
InterProⁱ	View protein in InterPro IPR032966 CRX IPR009057 Homeobox-like_sf IPR017970 Homeobox_CS IPR001356 Homeobox_dom IPR013851 Otx_TF_C
PANTHERⁱ	PTHR24329:SF331 PTHR24329:SF331, 1 hit
Pfamⁱ	View protein in Pfam PF00046 Homeobox, 1 hit PF03529 TF_Otx, 1 hit
SMARTⁱ	View protein in SMART SM00389 HOX, 1 hit
SUPFAMⁱ	SSF46689 SSF46689, 1 hit
PROSITEⁱ	View protein in PROSITE PS00027 HOMEOBOX_1, 1 hit PS50071 HOMEOBOX_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CRX_HUMAN
Accessionⁱ	O43186Primary (citable) accession number: O43186 Secondary accession number(s): Q0QD45
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
	Last sequence update:	June 1, 1998
	Last modified:	November 7, 2018
	This is version 182 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - O43186 (CRX_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Cone-rod homeobox protein

Select a section on the left to see content.

<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

Regions

<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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Nucleus

Nucleus

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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

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

<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

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ