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Protein

Zinc finger protein DZIP1L

Gene

DZIP1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Has a role in primary cilium formation.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri166 – 18924C2H2-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • cilium assembly Source: BHF-UCL
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein DZIP1L
Alternative name(s):
DAZ-interacting protein 1-like protein
Gene namesi
Name:DZIP1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:26551. DZIP1L.

Subcellular locationi

GO - Cellular componenti

  • ciliary basal body Source: BHF-UCL
  • cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134951988.

Polymorphism and mutation databases

BioMutaiDZIP1L.
DMDMi296434487.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 767767Zinc finger protein DZIP1LPRO_0000331306Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei426 – 4261PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8IYY4.
PRIDEiQ8IYY4.

PTM databases

iPTMnetiQ8IYY4.
PhosphoSiteiQ8IYY4.

Expressioni

Gene expression databases

BgeeiQ8IYY4.
CleanExiHS_DZIP1L.
ExpressionAtlasiQ8IYY4. baseline and differential.
GenevisibleiQ8IYY4. HS.

Organism-specific databases

HPAiHPA030404.
HPA049678.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP76Q8TAP63EBI-10264440,EBI-742887
SPERTQ8NA613EBI-10264440,EBI-741724

Protein-protein interaction databases

BioGridi128259. 4 interactions.
IntActiQ8IYY4. 2 interactions.
STRINGi9606.ENSP00000332148.

Structurei

3D structure databases

ProteinModelPortaliQ8IYY4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili205 – 406202Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 1 C2H2-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri166 – 18924C2H2-typePROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IJJY. Eukaryota.
ENOG4111HTD. LUCA.
GeneTreeiENSGT00530000063572.
HOGENOMiHOG000060141.
HOVERGENiHBG106652.
InParanoidiQ8IYY4.
KOiK16470.
OMAiKELHEEH.
OrthoDBiEOG7N0C3X.
PhylomeDBiQ8IYY4.
TreeFamiTF330044.

Family and domain databases

InterProiIPR032714. DZIP1_N.
IPR007087. Znf_C2H2.
[Graphical view]
PfamiPF13815. Dzip-like_N. 1 hit.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IYY4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MQSPAATAEG LSGPLFGAYT FPTFKFQPRH DSMDWRRIST LDVDRVAREL
60 70 80 90 100
DVATLQENIA GITFCNLDRE VCSRCGQPVD PALLKVLRLA QLIIEYLLHC
110 120 130 140 150
QDCLSASVAQ LEARLQTSLG QQQRGQQELG RQADELKGVR EESRRRRKMI
160 170 180 190 200
STLQQLLMQT GTHSYHTCHL CDKTFMNATF LRGHIQRRHA GVAEGGKQKK
210 220 230 240 250
QEQPVEEVLE ELRAKLKWTQ GELEAQREAE RQRQLQEAEL IHQREIEAKK
260 270 280 290 300
EFDKWKEQEW TKLYGEIDKL KKLFWDEFKN VAKQNSTLEE KLRALQSHSV
310 320 330 340 350
MESKLGSLRD EESEEWLRQA RELQALREKT EIQKTEWKRK VKELHEEHMA
360 370 380 390 400
EKKELQEENQ RLQASLSQDQ KKAAAQSQCQ ISTLRAQLQE QARIIASQEE
410 420 430 440 450
MIQSLSLRKV EGIHKVPKAV DTEEDSPEEE MEDSQDEQHK VLAALRRNPT
460 470 480 490 500
LLKHFRPILE DTLEEKLESM GIRKDAKGIS IQTLRHLESL LRVQREQKAR
510 520 530 540 550
KFSEFLSLRG KLVKEVTSRA KERQENGAVV SQPDGQPSVK SQQSTLVTRE
560 570 580 590 600
AQPKTRTLQV ALPSTPAEPP PPTRQSHGSH GSSLTQVSAP APRPGLHGPS
610 620 630 640 650
STPPSSGPGM STPPFSSEED SEGDRVQRVS LQPPKVPSRM VPRPKDDWDW
660 670 680 690 700
SDTETSEENA QPPGQGSGTL VQSMVKNLEK QLEAPAKKPA GGVSLFFMPN
710 720 730 740 750
AGPQRAATPG RKPQLSEDES DLEISSLEDL PLDLDQREKP KPLSRSKLPE
760
KFGTGPQSSG QPRVPAW
Length:767
Mass (Da):86,848
Last modified:May 18, 2010 - v2
Checksum:iB491D287A667CCB9
GO
Isoform 2 (identifier: Q8IYY4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-539: V → G
     540-767: Missing.

Show »
Length:539
Mass (Da):62,428
Checksum:i4C0C364A36703840
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti158 – 1581M → T in BAB71474 (PubMed:14702039).Curated
Sequence conflicti382 – 3821S → N in BAB71474 (PubMed:14702039).Curated
Sequence conflicti529 – 5291V → A in AAH33308 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti321 – 3211R → W.1 Publication
Corresponds to variant rs2724693 [ dbSNP | Ensembl ].
VAR_042756
Natural varianti545 – 5451T → A.1 Publication
Corresponds to variant rs446644 [ dbSNP | Ensembl ].
VAR_042757
Natural varianti551 – 5511A → V.
Corresponds to variant rs11917468 [ dbSNP | Ensembl ].
VAR_042758
Natural varianti593 – 5931R → H.1 Publication
Corresponds to variant rs374045 [ dbSNP | Ensembl ].
VAR_042759
Natural varianti645 – 6451K → E.
Corresponds to variant rs442800 [ dbSNP | Ensembl ].
VAR_042760

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei539 – 5391V → G in isoform 2. 1 PublicationVSP_033158
Alternative sequencei540 – 767228Missing in isoform 2. 1 PublicationVSP_033159Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057406 mRNA. Translation: BAB71474.1.
AC023049 Genomic DNA. No translation available.
BC033308 mRNA. Translation: AAH33308.1.
CCDSiCCDS3096.1. [Q8IYY4-1]
CCDS54645.1. [Q8IYY4-2]
RefSeqiNP_001164009.1. NM_001170538.1. [Q8IYY4-2]
NP_775814.2. NM_173543.2. [Q8IYY4-1]
UniGeneiHs.351403.

Genome annotation databases

EnsembliENST00000327532; ENSP00000332148; ENSG00000158163. [Q8IYY4-1]
ENST00000469243; ENSP00000419486; ENSG00000158163. [Q8IYY4-2]
GeneIDi199221.
KEGGihsa:199221.
UCSCiuc003erq.4. human. [Q8IYY4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057406 mRNA. Translation: BAB71474.1.
AC023049 Genomic DNA. No translation available.
BC033308 mRNA. Translation: AAH33308.1.
CCDSiCCDS3096.1. [Q8IYY4-1]
CCDS54645.1. [Q8IYY4-2]
RefSeqiNP_001164009.1. NM_001170538.1. [Q8IYY4-2]
NP_775814.2. NM_173543.2. [Q8IYY4-1]
UniGeneiHs.351403.

3D structure databases

ProteinModelPortaliQ8IYY4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128259. 4 interactions.
IntActiQ8IYY4. 2 interactions.
STRINGi9606.ENSP00000332148.

PTM databases

iPTMnetiQ8IYY4.
PhosphoSiteiQ8IYY4.

Polymorphism and mutation databases

BioMutaiDZIP1L.
DMDMi296434487.

Proteomic databases

PaxDbiQ8IYY4.
PRIDEiQ8IYY4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327532; ENSP00000332148; ENSG00000158163. [Q8IYY4-1]
ENST00000469243; ENSP00000419486; ENSG00000158163. [Q8IYY4-2]
GeneIDi199221.
KEGGihsa:199221.
UCSCiuc003erq.4. human. [Q8IYY4-1]

Organism-specific databases

CTDi199221.
GeneCardsiDZIP1L.
HGNCiHGNC:26551. DZIP1L.
HPAiHPA030404.
HPA049678.
neXtProtiNX_Q8IYY4.
PharmGKBiPA134951988.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJJY. Eukaryota.
ENOG4111HTD. LUCA.
GeneTreeiENSGT00530000063572.
HOGENOMiHOG000060141.
HOVERGENiHBG106652.
InParanoidiQ8IYY4.
KOiK16470.
OMAiKELHEEH.
OrthoDBiEOG7N0C3X.
PhylomeDBiQ8IYY4.
TreeFamiTF330044.

Miscellaneous databases

ChiTaRSiDZIP1L. human.
GenomeRNAii199221.
NextBioi89677.
PROiQ8IYY4.

Gene expression databases

BgeeiQ8IYY4.
CleanExiHS_DZIP1L.
ExpressionAtlasiQ8IYY4. baseline and differential.
GenevisibleiQ8IYY4. HS.

Family and domain databases

InterProiIPR032714. DZIP1_N.
IPR007087. Znf_C2H2.
[Graphical view]
PfamiPF13815. Dzip-like_N. 1 hit.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT TRP-321.
    Tissue: Testis.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ALA-545 AND HIS-593.
    Tissue: Brain.
  4. "The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis."
    Glazer A.M., Wilkinson A.W., Backer C.B., Lapan S.W., Gutzman J.H., Cheeseman I.M., Reddien P.W.
    Dev. Biol. 337:148-156(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiDZI1L_HUMAN
AccessioniPrimary (citable) accession number: Q8IYY4
Secondary accession number(s): C9JUG5, Q96M38
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 112 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.