PANKY_HUMAN
ID PANKY_HUMAN Reviewed; 452 AA.
AC Q7Z3H0; Q0VAA7; Q5K619; Q5K621; Q5K622; Q5K623; Q5K624; Q6ZUN0;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 20-DEC-2017, sequence version 4.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Photoreceptor ankyrin repeat protein {ECO:0000250|UniProtKB:Q8BXP5};
DE AltName: Full=Ankyrin repeat domain-containing protein 33 {ECO:0000312|HGNC:HGNC:13788};
GN Name=ANKRD33 {ECO:0000312|HGNC:HGNC:13788}; Synonyms=C12orf7, PANKY;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS PHE-140
RP AND ARG-257.
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Retina;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 136-346 (ISOFORM 1).
RA Schulz H.L., Stoehr H.B., Weber B.H.F.;
RT "Retina-abundant C12orf7 gene.";
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Acts as a transcriptional repressor for CRX-activated
CC photoreceptor gene regulation. {ECO:0000250|UniProtKB:Q8BXP5}.
CC -!- INTERACTION:
CC Q7Z3H0-1; X5D778: ANKRD11; NbExp=3; IntAct=EBI-16746154, EBI-17183751;
CC Q7Z3H0-1; Q13515: BFSP2; NbExp=3; IntAct=EBI-16746154, EBI-10229433;
CC Q7Z3H0-1; Q9Y4H4: GPSM3; NbExp=5; IntAct=EBI-16746154, EBI-347538;
CC Q7Z3H0-1; Q9UM19: HPCAL4; NbExp=3; IntAct=EBI-16746154, EBI-744820;
CC Q7Z3H0-1; Q9P2K6: KLHL42; NbExp=3; IntAct=EBI-16746154, EBI-739890;
CC Q7Z3H0-1; O95983-2: MBD3; NbExp=3; IntAct=EBI-16746154, EBI-11978579;
CC Q7Z3H0-1; O00560: SDCBP; NbExp=3; IntAct=EBI-16746154, EBI-727004;
CC Q7Z3H0-1; O43711: TLX3; NbExp=3; IntAct=EBI-16746154, EBI-3939165;
CC Q7Z3H0-1; Q8IWR1: TRIM59; NbExp=3; IntAct=EBI-16746154, EBI-10262539;
CC Q7Z3H0-1; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-16746154, EBI-947187;
CC Q7Z3H0-1; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-16746154, EBI-739895;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q8BXP5}. Nucleus {ECO:0000250|UniProtKB:Q8BXP5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=2;
CC IsoId=Q7Z3H0-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q7Z3H0-1; Sequence=VSP_059265, VSP_059266, VSP_059267;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ07991.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAQ07992.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK125517; BAC86190.1; -; mRNA.
DR EMBL; BX537908; CAD97893.1; -; mRNA.
DR EMBL; BX640656; CAE45798.1; -; mRNA.
DR EMBL; AC025259; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC121153; AAI21154.1; -; mRNA.
DR EMBL; AF517112; AAQ07991.1; ALT_INIT; mRNA.
DR EMBL; AF517113; AAQ07992.1; ALT_INIT; mRNA.
DR EMBL; AF517114; AAQ07993.1; -; mRNA.
DR EMBL; AF517115; AAQ07994.1; -; mRNA.
DR EMBL; AF517118; AAQ07996.1; -; mRNA.
DR CCDS; CCDS44892.1; -. [Q7Z3H0-1]
DR CCDS; CCDS8815.1; -. [Q7Z3H0-2]
DR RefSeq; NP_001123487.1; NM_001130015.1. [Q7Z3H0-1]
DR RefSeq; NP_001291388.1; NM_001304459.1.
DR RefSeq; NP_872414.3; NM_182608.3. [Q7Z3H0-2]
DR AlphaFoldDB; Q7Z3H0; -.
DR SMR; Q7Z3H0; -.
DR BioGRID; 131136; 14.
DR IntAct; Q7Z3H0; 11.
DR STRING; 9606.ENSP00000301190; -.
DR PhosphoSitePlus; Q7Z3H0; -.
DR BioMuta; ANKRD33; -.
DR DMDM; 296439441; -.
DR MassIVE; Q7Z3H0; -.
DR PaxDb; Q7Z3H0; -.
DR PeptideAtlas; Q7Z3H0; -.
DR PRIDE; Q7Z3H0; -.
DR ProteomicsDB; 69048; -. [Q7Z3H0-2]
DR Antibodypedia; 50682; 69 antibodies from 20 providers.
DR DNASU; 341405; -.
DR Ensembl; ENST00000301190.11; ENSP00000301190.6; ENSG00000167612.13. [Q7Z3H0-2]
DR Ensembl; ENST00000340970.8; ENSP00000344690.4; ENSG00000167612.13. [Q7Z3H0-1]
DR GeneID; 341405; -.
DR KEGG; hsa:341405; -.
DR MANE-Select; ENST00000301190.11; ENSP00000301190.6; NM_182608.4; NP_872414.3.
DR UCSC; uc001rzd.4; human. [Q7Z3H0-2]
DR CTD; 341405; -.
DR DisGeNET; 341405; -.
DR GeneCards; ANKRD33; -.
DR HGNC; HGNC:13788; ANKRD33.
DR HPA; ENSG00000167612; Tissue enriched (retina).
DR neXtProt; NX_Q7Z3H0; -.
DR OpenTargets; ENSG00000167612; -.
DR PharmGKB; PA25508; -.
DR VEuPathDB; HostDB:ENSG00000167612; -.
DR eggNOG; ENOG502QRWZ; Eukaryota.
DR GeneTree; ENSGT00500000044852; -.
DR HOGENOM; CLU_049994_0_0_1; -.
DR InParanoid; Q7Z3H0; -.
DR OMA; KKRQKGY; -.
DR PhylomeDB; Q7Z3H0; -.
DR TreeFam; TF332022; -.
DR PathwayCommons; Q7Z3H0; -.
DR SignaLink; Q7Z3H0; -.
DR BioGRID-ORCS; 341405; 14 hits in 1067 CRISPR screens.
DR ChiTaRS; ANKRD33; human.
DR GenomeRNAi; 341405; -.
DR Pharos; Q7Z3H0; Tdark.
DR PRO; PR:Q7Z3H0; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q7Z3H0; protein.
DR Bgee; ENSG00000167612; Expressed in placenta and 48 other tissues.
DR ExpressionAtlas; Q7Z3H0; baseline and differential.
DR Genevisible; Q7Z3H0; HS.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; IBA:GO_Central.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 1.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Cytoplasm; Nucleus; Reference proteome;
KW Repeat.
FT CHAIN 1..452
FT /note="Photoreceptor ankyrin repeat protein"
FT /id="PRO_0000243908"
FT REPEAT 94..123
FT /note="ANK 1"
FT /evidence="ECO:0000255"
FT REPEAT 130..160
FT /note="ANK 2"
FT /evidence="ECO:0000255"
FT REPEAT 164..193
FT /note="ANK 3"
FT /evidence="ECO:0000255"
FT REPEAT 223..257
FT /note="ANK 4"
FT /evidence="ECO:0000255"
FT REGION 335..369
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 405..427
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 346..366
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 405..422
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..135
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_059265"
FT VAR_SEQ 213
FT /note="C -> CECVATLLMAG (in isoform 1)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_059266"
FT VAR_SEQ 347..452
FT /note="GTAPPPPLVPQSPPGSPQRSPWVFVPYQSPQGILSKCLQWLQPRDSTSPRPQ
FT VPKILLSKASSSSHQCQPKPSPSGHQSLALPLWRYQELRIEKRKQEEEARMAQK -> V
FT PAEAQSFRTPKSGPSSLAIPGAQDREEETGGGGQNGTEVGEDGIGQAGNR (in
FT isoform 1)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_059267"
FT VARIANT 140
FT /note="Y -> F (in dbSNP:rs697636)"
FT /id="VAR_059121"
FT VARIANT 257
FT /note="Q -> R (in dbSNP:rs34494292)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_059122"
FT VARIANT 313
FT /note="T -> N (in dbSNP:rs12368048)"
FT /id="VAR_059123"
FT CONFLICT 303
FT /note="G -> S (in Ref. 2; CAD97893/CAE45798)"
FT /evidence="ECO:0000305"
FT VARIANT Q7Z3H0-1:261
FT /note="V -> I (in dbSNP:rs3180417)"
FT /evidence="ECO:0000305"
FT /id="VAR_082795"
FT CONFLICT Q7Z3H0-1:262
FT /note="G -> E (in Ref. 2; CAD97893/CAE45798)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 452 AA; 49403 MW; 0367E5EC638339BE CRC64;
MKVQPSVTCV ASWGGIVHLE AFGDPVIVLR GAWAVPRVDC LIDTLRTPNA SCMRKGTHLL
VPCLEEEELA LHRRRLDMSE ALPCPGKETP TPGCRLGALY WACVHNDPTQ LQAILDGGVS
PEEATQVDSN GRTGLMVACY HGFQSVVALL SHCPFLDVNQ QDKGGDTALM LAAQAGHVPL
VSLLLNYYVG LDLERRDQRG LTALMKAAMR NRCADLTAVD PVRGKTALEW AVLTDSFDTV
WRIRQLLRRP QVEQLSQHYK PEWPALSGLV AQAQAQAQVA PSLLERLQAT LSLPFAPSPQ
EGGVLDHLVT ATTSLASPFV TTACHTLCPD HPPSLGTRSK SVPELLGTAP PPPLVPQSPP
GSPQRSPWVF VPYQSPQGIL SKCLQWLQPR DSTSPRPQVP KILLSKASSS SHQCQPKPSP
SGHQSLALPL WRYQELRIEK RKQEEEARMA QK
