DZI1L_HUMAN
ID DZI1L_HUMAN Reviewed; 767 AA.
AC Q8IYY4; C9JUG5; Q96M38;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Cilium assembly protein DZIP1L {ECO:0000305|PubMed:19852954};
DE AltName: Full=DAZ-interacting zinc finger protein 1-like {ECO:0000312|HGNC:HGNC:26551};
GN Name=DZIP1L {ECO:0000312|HGNC:HGNC:26551};
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 VARIANT TRP-321.
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ALA-545
RP AND HIS-593.
RC TISSUE=Brain;
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 [4]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=19852954; DOI=10.1016/j.ydbio.2009.10.025;
RA Glazer A.M., Wilkinson A.W., Backer C.B., Lapan S.W., Gutzman J.H.,
RA Cheeseman I.M., Reddien P.W.;
RT "The Zn finger protein Iguana impacts Hedgehog signaling by promoting
RT ciliogenesis.";
RL Dev. Biol. 337:148-156(2010).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SEPTIN2, INVOLVEMENT IN
RP PKD5, AND VARIANTS PKD5 VAL-90; HIS-91 AND 155-GLN--TRP-767 DEL.
RX PubMed=28530676; DOI=10.1038/ng.3871;
RA Lu H., Galeano M.C.R., Ott E., Kaeslin G., Kausalya P.J., Kramer C.,
RA Ortiz-Bruechle N., Hilger N., Metzis V., Hiersche M., Tay S.Y.,
RA Tunningley R., Vij S., Courtney A.D., Whittle B., Wuehl E., Vester U.,
RA Hartleben B., Neuber S., Frank V., Little M.H., Epting D.,
RA Papathanasiou P., Perkins A.C., Wright G.D., Hunziker W., Gee H.Y.,
RA Otto E.A., Zerres K., Hildebrandt F., Roy S., Wicking C., Bergmann C.;
RT "Mutations in DZIP1L, which encodes a ciliary-transition-zone protein,
RT cause autosomal recessive polycystic kidney disease.";
RL Nat. Genet. 49:1025-1034(2017).
CC -!- FUNCTION: Involved in primary cilium formation (PubMed:19852954,
CC PubMed:28530676). Probably acts as a transition zone protein required
CC for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane
CC (PubMed:28530676). {ECO:0000269|PubMed:19852954,
CC ECO:0000269|PubMed:28530676}.
CC -!- SUBUNIT: Interacts with SEPTIN2 (PubMed:28530676).
CC {ECO:0000269|PubMed:28530676}.
CC -!- INTERACTION:
CC Q8IYY4; Q9Y2J4: AMOTL2; NbExp=3; IntAct=EBI-10264440, EBI-746752;
CC Q8IYY4; Q9Y3M2: CBY1; NbExp=3; IntAct=EBI-10264440, EBI-947308;
CC Q8IYY4; Q8NA61: CBY2; NbExp=3; IntAct=EBI-10264440, EBI-741724;
CC Q8IYY4; Q8NA61-2: CBY2; NbExp=5; IntAct=EBI-10264440, EBI-11524851;
CC Q8IYY4; Q8TAP6: CEP76; NbExp=5; IntAct=EBI-10264440, EBI-742887;
CC Q8IYY4; Q8WUT4: LRRN4; NbExp=3; IntAct=EBI-10264440, EBI-745046;
CC Q8IYY4; Q96PV4: PNMA5; NbExp=3; IntAct=EBI-10264440, EBI-10171633;
CC Q8IYY4; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-10264440, EBI-5280197;
CC Q8IYY4; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-10264440, EBI-11139477;
CC Q8IYY4; O94972: TRIM37; NbExp=3; IntAct=EBI-10264440, EBI-741602;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome, centriole
CC {ECO:0000269|PubMed:28530676}. Note=Localizes to centrioles and to the
CC distal ends of basal bodies (PubMed:28530676).
CC {ECO:0000269|PubMed:28530676}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IYY4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IYY4-2; Sequence=VSP_033158, VSP_033159;
CC -!- DISEASE: Polycystic kidney disease 5 (PKD5) [MIM:617610]: A form of
CC polycystic kidney disease, a disorder characterized by progressive
CC formation and enlargement of cysts in both kidneys, typically leading
CC to end-stage renal disease in adult life. Cysts may also occur in other
CC organs, particularly the liver. PKD5 inheritance is autosomal
CC recessive. {ECO:0000269|PubMed:28530676}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the DZIP C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
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DR EMBL; AK057406; BAB71474.1; -; mRNA.
DR EMBL; AC023049; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC033308; AAH33308.1; -; mRNA.
DR CCDS; CCDS3096.1; -. [Q8IYY4-1]
DR CCDS; CCDS54645.1; -. [Q8IYY4-2]
DR RefSeq; NP_001164009.1; NM_001170538.1. [Q8IYY4-2]
DR RefSeq; NP_775814.2; NM_173543.2. [Q8IYY4-1]
DR AlphaFoldDB; Q8IYY4; -.
DR SMR; Q8IYY4; -.
DR BioGRID; 128259; 16.
DR IntAct; Q8IYY4; 10.
DR STRING; 9606.ENSP00000332148; -.
DR iPTMnet; Q8IYY4; -.
DR PhosphoSitePlus; Q8IYY4; -.
DR BioMuta; DZIP1L; -.
DR DMDM; 296434487; -.
DR EPD; Q8IYY4; -.
DR jPOST; Q8IYY4; -.
DR MassIVE; Q8IYY4; -.
DR PaxDb; Q8IYY4; -.
DR PeptideAtlas; Q8IYY4; -.
DR PRIDE; Q8IYY4; -.
DR ProteomicsDB; 71261; -. [Q8IYY4-1]
DR ProteomicsDB; 71262; -. [Q8IYY4-2]
DR Antibodypedia; 33422; 18 antibodies from 9 providers.
DR DNASU; 199221; -.
DR Ensembl; ENST00000327532.7; ENSP00000332148.2; ENSG00000158163.15. [Q8IYY4-1]
DR Ensembl; ENST00000469243.5; ENSP00000419486.1; ENSG00000158163.15. [Q8IYY4-2]
DR GeneID; 199221; -.
DR KEGG; hsa:199221; -.
DR MANE-Select; ENST00000327532.7; ENSP00000332148.2; NM_173543.3; NP_775814.2.
DR UCSC; uc003erq.4; human. [Q8IYY4-1]
DR CTD; 199221; -.
DR DisGeNET; 199221; -.
DR GeneCards; DZIP1L; -.
DR HGNC; HGNC:26551; DZIP1L.
DR HPA; ENSG00000158163; Low tissue specificity.
DR MalaCards; DZIP1L; -.
DR MIM; 617570; gene.
DR MIM; 617610; phenotype.
DR neXtProt; NX_Q8IYY4; -.
DR OpenTargets; ENSG00000158163; -.
DR Orphanet; 731; Autosomal recessive polycystic kidney disease.
DR PharmGKB; PA134951988; -.
DR VEuPathDB; HostDB:ENSG00000158163; -.
DR eggNOG; ENOG502QRAI; Eukaryota.
DR GeneTree; ENSGT00940000160898; -.
DR HOGENOM; CLU_018051_0_1_1; -.
DR InParanoid; Q8IYY4; -.
DR OMA; LMPHGFD; -.
DR OrthoDB; 1162102at2759; -.
DR PhylomeDB; Q8IYY4; -.
DR TreeFam; TF330044; -.
DR PathwayCommons; Q8IYY4; -.
DR SignaLink; Q8IYY4; -.
DR BioGRID-ORCS; 199221; 14 hits in 1072 CRISPR screens.
DR ChiTaRS; DZIP1L; human.
DR GenomeRNAi; 199221; -.
DR Pharos; Q8IYY4; Tdark.
DR PRO; PR:Q8IYY4; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IYY4; protein.
DR Bgee; ENSG00000158163; Expressed in right uterine tube and 152 other tissues.
DR ExpressionAtlas; Q8IYY4; baseline and differential.
DR Genevisible; Q8IYY4; HS.
DR GO; GO:0005930; C:axoneme; IEA:Ensembl.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:1905349; P:ciliary transition zone assembly; IEA:Ensembl.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0033504; P:floor plate development; IEA:Ensembl.
DR GO; GO:0021532; P:neural tube patterning; IEA:Ensembl.
DR GO; GO:0061512; P:protein localization to cilium; IEA:Ensembl.
DR GO; GO:0032880; P:regulation of protein localization; IMP:UniProtKB.
DR GO; GO:0007224; P:smoothened signaling pathway; IEA:Ensembl.
DR InterPro; IPR032714; DZIP1_N.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF13815; Dzip-like_N; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 1.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium; Coiled coil;
KW Cytoplasm; Cytoskeleton; Disease variant; Metal-binding; Phosphoprotein;
KW Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..767
FT /note="Cilium assembly protein DZIP1L"
FT /id="PRO_0000331306"
FT ZN_FING 166..189
FT /note="C2H2-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 122..144
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 518..767
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 205..406
FT /evidence="ECO:0000255"
FT COMPBIAS 130..144
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 529..562
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 575..589
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 596..610
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 655..676
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 730..746
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 426
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q499E4"
FT VAR_SEQ 539
FT /note="V -> G (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033158"
FT VAR_SEQ 540..767
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033159"
FT VARIANT 90
FT /note="A -> V (in PKD5; dbSNP:rs555349004)"
FT /evidence="ECO:0000269|PubMed:28530676"
FT /id="VAR_078962"
FT VARIANT 91
FT /note="Q -> H (in PKD5; dbSNP:rs1135402754)"
FT /evidence="ECO:0000269|PubMed:28530676"
FT /id="VAR_078963"
FT VARIANT 155..767
FT /note="Missing (in PKD5)"
FT /evidence="ECO:0000269|PubMed:28530676"
FT /id="VAR_078964"
FT VARIANT 321
FT /note="R -> W (in dbSNP:rs2724693)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_042756"
FT VARIANT 545
FT /note="T -> A (in dbSNP:rs446644)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042757"
FT VARIANT 551
FT /note="A -> V (in dbSNP:rs11917468)"
FT /id="VAR_042758"
FT VARIANT 593
FT /note="R -> H (in dbSNP:rs374045)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042759"
FT VARIANT 645
FT /note="K -> E (in dbSNP:rs442800)"
FT /id="VAR_042760"
FT CONFLICT 158
FT /note="M -> T (in Ref. 1; BAB71474)"
FT /evidence="ECO:0000305"
FT CONFLICT 382
FT /note="S -> N (in Ref. 1; BAB71474)"
FT /evidence="ECO:0000305"
FT CONFLICT 529
FT /note="V -> A (in Ref. 3; AAH33308)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 767 AA; 86848 MW; B491D287A667CCB9 CRC64;
MQSPAATAEG LSGPLFGAYT FPTFKFQPRH DSMDWRRIST LDVDRVAREL DVATLQENIA
GITFCNLDRE VCSRCGQPVD PALLKVLRLA QLIIEYLLHC QDCLSASVAQ LEARLQTSLG
QQQRGQQELG RQADELKGVR EESRRRRKMI STLQQLLMQT GTHSYHTCHL CDKTFMNATF
LRGHIQRRHA GVAEGGKQKK QEQPVEEVLE ELRAKLKWTQ GELEAQREAE RQRQLQEAEL
IHQREIEAKK EFDKWKEQEW TKLYGEIDKL KKLFWDEFKN VAKQNSTLEE KLRALQSHSV
MESKLGSLRD EESEEWLRQA RELQALREKT EIQKTEWKRK VKELHEEHMA EKKELQEENQ
RLQASLSQDQ KKAAAQSQCQ ISTLRAQLQE QARIIASQEE MIQSLSLRKV EGIHKVPKAV
DTEEDSPEEE MEDSQDEQHK VLAALRRNPT LLKHFRPILE DTLEEKLESM GIRKDAKGIS
IQTLRHLESL LRVQREQKAR KFSEFLSLRG KLVKEVTSRA KERQENGAVV SQPDGQPSVK
SQQSTLVTRE AQPKTRTLQV ALPSTPAEPP PPTRQSHGSH GSSLTQVSAP APRPGLHGPS
STPPSSGPGM STPPFSSEED SEGDRVQRVS LQPPKVPSRM VPRPKDDWDW SDTETSEENA
QPPGQGSGTL VQSMVKNLEK QLEAPAKKPA GGVSLFFMPN AGPQRAATPG RKPQLSEDES
DLEISSLEDL PLDLDQREKP KPLSRSKLPE KFGTGPQSSG QPRVPAW
