UniProtKB - Q7Z3H0 (PANKY_HUMAN)
Protein
Photoreceptor ankyrin repeat protein
Gene
ANKRD33
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation.By similarity
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- negative regulation of transcription regulatory region DNA binding Source: GO_Central
- skeletal muscle cell differentiation Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q7Z3H0 |
Names & Taxonomyi
Protein namesi | Recommended name: Photoreceptor ankyrin repeat proteinBy similarityAlternative name(s): Ankyrin repeat domain-containing protein 33Combined sources |
Gene namesi | Name:ANKRD33 Synonyms:C12orf7, PANKY |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000167612.12 |
HGNCi | HGNC:13788, ANKRD33 |
neXtProti | NX_Q7Z3H0 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 341405 |
OpenTargetsi | ENSG00000167612 |
PharmGKBi | PA25508 |
Miscellaneous databases
Pharosi | Q7Z3H0, Tdark |
Polymorphism and mutation databases
BioMutai | ANKRD33 |
DMDMi | 296439441 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000243908 | 1 – 452 | Photoreceptor ankyrin repeat proteinAdd BLAST | 452 |
Proteomic databases
PaxDbi | Q7Z3H0 |
PeptideAtlasi | Q7Z3H0 |
PRIDEi | Q7Z3H0 |
ProteomicsDBi | 69047 [Q7Z3H0-1] 69048 [Q7Z3H0-2] |
Expressioni
Gene expression databases
Bgeei | ENSG00000167612, Expressed in placenta and 48 other tissues |
ExpressionAtlasi | Q7Z3H0, baseline and differential |
Genevisiblei | Q7Z3H0, HS |
Organism-specific databases
HPAi | ENSG00000167612, Group enriched (placenta, retina) |
Interactioni
Binary interactionsi
Hide detailsIsoform 1 [Q7Z3H0-1]
Protein-protein interaction databases
BioGRIDi | 131136, 15 interactors |
IntActi | Q7Z3H0, 11 interactors |
STRINGi | 9606.ENSP00000301190 |
Miscellaneous databases
RNActi | Q7Z3H0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 94 – 123 | ANK 1Sequence analysisAdd BLAST | 30 | |
Repeati | 130 – 160 | ANK 2Sequence analysisAdd BLAST | 31 | |
Repeati | 164 – 193 | ANK 3Sequence analysisAdd BLAST | 30 | |
Repeati | 223 – 257 | ANK 4Sequence analysisAdd BLAST | 35 |
Keywords - Domaini
ANK repeat, RepeatPhylogenomic databases
eggNOGi | ENOG502QRWZ, Eukaryota |
GeneTreei | ENSGT00500000044852 |
HOGENOMi | CLU_049994_0_0_1 |
InParanoidi | Q7Z3H0 |
OMAi | VTCVASW |
PhylomeDBi | Q7Z3H0 |
TreeFami | TF332022 |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 4 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 2 (identifier: Q7Z3H0-2) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKVQPSVTCV ASWGGIVHLE AFGDPVIVLR GAWAVPRVDC LIDTLRTPNA
60 70 80 90 100
SCMRKGTHLL VPCLEEEELA LHRRRLDMSE ALPCPGKETP TPGCRLGALY
110 120 130 140 150
WACVHNDPTQ LQAILDGGVS PEEATQVDSN GRTGLMVACY HGFQSVVALL
160 170 180 190 200
SHCPFLDVNQ QDKGGDTALM LAAQAGHVPL VSLLLNYYVG LDLERRDQRG
210 220 230 240 250
LTALMKAAMR NRCADLTAVD PVRGKTALEW AVLTDSFDTV WRIRQLLRRP
260 270 280 290 300
QVEQLSQHYK PEWPALSGLV AQAQAQAQVA PSLLERLQAT LSLPFAPSPQ
310 320 330 340 350
EGGVLDHLVT ATTSLASPFV TTACHTLCPD HPPSLGTRSK SVPELLGTAP
360 370 380 390 400
PPPLVPQSPP GSPQRSPWVF VPYQSPQGIL SKCLQWLQPR DSTSPRPQVP
410 420 430 440 450
KILLSKASSS SHQCQPKPSP SGHQSLALPL WRYQELRIEK RKQEEEARMA
QK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8VTQ6 | F8VTQ6_HUMAN | Photoreceptor ankyrin repeat protei... | ANKRD33 | 136 | Annotation score: |
Sequence cautioni
The sequence AAQ07991 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAQ07992 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Sequence conflicti | 303 | G → S in CAD97893 (PubMed:17974005).Curated | 1 | ||
Sequence conflicti | 303 | G → S in CAE45798 (PubMed:17974005).Curated | 1 | ||
Isoform 1 (identifier: Q7Z3H0-1) | |||||
Sequence conflicti | 262 | G → E in CAD97893 (PubMed:17974005).Curated | 1 | ||
Sequence conflicti | 262 | G → E in CAE45798 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_059121 | 140 | Y → F. Corresponds to variant dbSNP:rs697636Ensembl. | 1 | ||
Natural variantiVAR_059122 | 257 | Q → R1 PublicationCorresponds to variant dbSNP:rs34494292Ensembl. | 1 | ||
Natural variantiVAR_059123 | 313 | T → N. Corresponds to variant dbSNP:rs12368048Ensembl. | 1 | ||
Isoform 1 (identifier: Q7Z3H0-1) | |||||
Natural variantiVAR_082795 | 261 | V → ICuratedCorresponds to variant dbSNP:rs3180417Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_059265 | 1 – 135 | Missing in isoform 1. 1 Publication1 PublicationAdd BLAST | 135 | |
Alternative sequenceiVSP_059266 | 213 | C → CECVATLLMAG in isoform 1. 1 Publication1 Publication | 1 | |
Alternative sequenceiVSP_059267 | 347 – 452 | GTAPP…RMAQK → VPAEAQSFRTPKSGPSSLAI PGAQDREEETGGGGQNGTEV GEDGIGQAGNR in isoform 1. 1 PublicationAdd BLAST | 106 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK125517 mRNA Translation: BAC86190.1 BX537908 mRNA Translation: CAD97893.1 BX640656 mRNA Translation: CAE45798.1 AC025259 Genomic DNA No translation available. BC121153 mRNA Translation: AAI21154.1 AF517112 mRNA Translation: AAQ07991.1 Different initiation. AF517113 mRNA Translation: AAQ07992.1 Different initiation. AF517114 mRNA Translation: AAQ07993.1 AF517115 mRNA Translation: AAQ07994.1 AF517118 mRNA Translation: AAQ07996.1 |
CCDSi | CCDS44892.1 [Q7Z3H0-1] CCDS8815.1 [Q7Z3H0-2] |
RefSeqi | NP_001123487.1, NM_001130015.1 [Q7Z3H0-1] NP_001291388.1, NM_001304459.1 NP_872414.3, NM_182608.3 [Q7Z3H0-2] |
Genome annotation databases
Ensembli | ENST00000301190; ENSP00000301190; ENSG00000167612 [Q7Z3H0-2] ENST00000340970; ENSP00000344690; ENSG00000167612 [Q7Z3H0-1] |
GeneIDi | 341405 |
KEGGi | hsa:341405 |
UCSCi | uc001rzd.4, human [Q7Z3H0-2] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK125517 mRNA Translation: BAC86190.1 BX537908 mRNA Translation: CAD97893.1 BX640656 mRNA Translation: CAE45798.1 AC025259 Genomic DNA No translation available. BC121153 mRNA Translation: AAI21154.1 AF517112 mRNA Translation: AAQ07991.1 Different initiation. AF517113 mRNA Translation: AAQ07992.1 Different initiation. AF517114 mRNA Translation: AAQ07993.1 AF517115 mRNA Translation: AAQ07994.1 AF517118 mRNA Translation: AAQ07996.1 |
CCDSi | CCDS44892.1 [Q7Z3H0-1] CCDS8815.1 [Q7Z3H0-2] |
RefSeqi | NP_001123487.1, NM_001130015.1 [Q7Z3H0-1] NP_001291388.1, NM_001304459.1 NP_872414.3, NM_182608.3 [Q7Z3H0-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 131136, 15 interactors |
IntActi | Q7Z3H0, 11 interactors |
STRINGi | 9606.ENSP00000301190 |
Polymorphism and mutation databases
BioMutai | ANKRD33 |
DMDMi | 296439441 |
Proteomic databases
PaxDbi | Q7Z3H0 |
PeptideAtlasi | Q7Z3H0 |
PRIDEi | Q7Z3H0 |
ProteomicsDBi | 69047 [Q7Z3H0-1] 69048 [Q7Z3H0-2] |
Protocols and materials databases
Antibodypediai | 50682, 61 antibodies |
Genome annotation databases
Ensembli | ENST00000301190; ENSP00000301190; ENSG00000167612 [Q7Z3H0-2] ENST00000340970; ENSP00000344690; ENSG00000167612 [Q7Z3H0-1] |
GeneIDi | 341405 |
KEGGi | hsa:341405 |
UCSCi | uc001rzd.4, human [Q7Z3H0-2] |
Organism-specific databases
CTDi | 341405 |
DisGeNETi | 341405 |
EuPathDBi | HostDB:ENSG00000167612.12 |
GeneCardsi | ANKRD33 |
HGNCi | HGNC:13788, ANKRD33 |
HPAi | ENSG00000167612, Group enriched (placenta, retina) |
neXtProti | NX_Q7Z3H0 |
OpenTargetsi | ENSG00000167612 |
PharmGKBi | PA25508 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRWZ, Eukaryota |
GeneTreei | ENSGT00500000044852 |
HOGENOMi | CLU_049994_0_0_1 |
InParanoidi | Q7Z3H0 |
OMAi | VTCVASW |
PhylomeDBi | Q7Z3H0 |
TreeFami | TF332022 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z3H0 |
Miscellaneous databases
BioGRID-ORCSi | 341405, 7 hits in 844 CRISPR screens |
ChiTaRSi | ANKRD33, human |
GenomeRNAii | 341405 |
Pharosi | Q7Z3H0, Tdark |
PROi | PR:Q7Z3H0 |
RNActi | Q7Z3H0, protein |
Gene expression databases
Bgeei | ENSG00000167612, Expressed in placenta and 48 other tissues |
ExpressionAtlasi | Q7Z3H0, baseline and differential |
Genevisiblei | Q7Z3H0, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 1 hit |
InterProi | View protein in InterPro IPR002110, Ankyrin_rpt IPR020683, Ankyrin_rpt-contain_dom IPR036770, Ankyrin_rpt-contain_sf |
Pfami | View protein in Pfam PF12796, Ank_2, 1 hit |
SMARTi | View protein in SMART SM00248, ANK, 4 hits |
SUPFAMi | SSF48403, SSF48403, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PANKY_HUMAN | |
Accessioni | Q7Z3H0Primary (citable) accession number: Q7Z3H0 Secondary accession number(s): Q0VAA7 Q6ZUN0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | December 20, 2017 | |
Last modified: | December 2, 2020 | |
This is version 127 of the entry and version 4 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations