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Q86YF9 (DZIP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein DZIP1
Alternative name(s):
DAZ-interacting protein 1/2
Gene names
Name:DZIP1
Synonyms:DZIP, DZIP2, KIAA0996
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length867 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May participate in spermatogenesis via its interaction with DAZ. Ref.6

Subunit structure

Isoform 1 and isoform 2 interact with DAZ proteins. May participate in an RNA-binding complex that functions in both ES cells and germ cells.

Subcellular location

Nucleus. Cytoplasm. Note: In testis, it is predominantly nuclear, with some cytoplasmic localization in spermatogonia. Colocalizes with DAZ and DAZL in primordial germ cells. Ref.6

Tissue specificity

Predominantly expressed in testis. Also expressed in fetal brain, adult oocytes and ovary. Expressed in undifferentiated ES cells. In testis, it is probably specifically expressed in germ cells. Expressed in mature germ cells and secondary spermatocytes, while it is weakly or not expressed in primary spermatocytes. Ref.6

Sequence similarities

Belongs to the DZIP C2H2-type zinc-finger protein family.

Contains 1 C2H2-type zinc finger.

Sequence caution

The sequence AAL36978.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAA76840.2 differs from that shown. Reason: Erroneous initiation.

The sequence CAB43211.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PPP2R5EQ165373EBI-998108,EBI-968374

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86YF9-1)

Also known as: DZIPt2; DZIP testis 2;

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.
Isoform 2 (identifier: Q86YF9-2)

Also known as: DZIPt1; DZIP testis 1;

The sequence of this isoform differs from the canonical sequence as follows:
     455-474: GNPLAWQAFESQPAAPAVPM → V
Isoform 3 (identifier: Q86YF9-3)

Also known as: DZIPb; DZIP brain;

The sequence of this isoform differs from the canonical sequence as follows:
     12-12: M → MVRGGRPGRPRRGCRAGENRGFPGPPAPQPARPPSPPPAALSLCPPQ
     229-231: EYQ → GHL
     232-867: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 867867Zinc finger protein DZIP1
PRO_0000047106

Regions

Zinc finger198 – 22124C2H2-type
Coiled coil230 – 340111 Potential
Coiled coil401 – 44545 Potential
Coiled coil568 – 58821 Potential

Natural variations

Alternative sequence121M → MVRGGRPGRPRRGCRAGENR GFPGPPAPQPARPPSPPPAA LSLCPPQ in isoform 3.
VSP_010962
Alternative sequence229 – 2313EYQ → GHL in isoform 3.
VSP_010963
Alternative sequence232 – 867636Missing in isoform 3.
VSP_010964
Alternative sequence455 – 47420GNPLA…PAVPM → V in isoform 2.
VSP_010965
Natural variant1721T → M.
Corresponds to variant rs9561921 [ dbSNP | Ensembl ].
VAR_052710
Natural variant6641M → L.
Corresponds to variant rs34303958 [ dbSNP | Ensembl ].
VAR_052711
Natural variant7361P → S. Ref.5
Corresponds to variant rs11070136 [ dbSNP | Ensembl ].
VAR_019456

Experimental info

Sequence conflict6151D → G in CAB43211. Ref.5
Sequence conflict818 – 8192KN → EK in CAB43211. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (DZIPt2) (DZIP testis 2) [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: 4C5A7B9438D40623

FASTA86798,664
        10         20         30         40         50         60 
MQAEAADWFS SMPFQKHVYY PLASGPEGPD VAVAAAAAGA ASMACAPPSA ASGPLPFFQF 

        70         80         90        100        110        120 
RPRLESVDWR RLSAIDVDKV AGAVDVLTLQ ENIMNITFCK LEDEKCPHCQ SGVDPVLLKL 

       130        140        150        160        170        180 
IRLAQFTIEY LLHSQEFLTS QLHTLEERLR LSHCDGEQSK KLLTKQAGEI KTLKEECKRR 

       190        200        210        220        230        240 
KKMISTQQLM IEAKANYYQC HFCDKAFMNQ AFLQSHIQRR HTEENSHFEY QKNAQIEKLR 

       250        260        270        280        290        300 
SEIVVLKEEL QLTRSELEAA HHASAVRFSK EYEMQKTKEE DFLKLFDRWK EEEKEKLVDE 

       310        320        330        340        350        360 
MEKVKEMFMK EFKELTSKNS ALEYQLSEIQ KSNMQIKSNI GTLKDAHEFK EDRSPYPQDF 

       370        380        390        400        410        420 
HNVMQLLDSQ ESKWTARVQA IHQEHKKEKG RLLSHIEKLR TSMIDDLNAS NVFYKKRIEE 

       430        440        450        460        470        480 
LGQRLQEQNE LIITQRQQIK DFTCNPLNSI SEPKGNPLAW QAFESQPAAP AVPMNAPALH 

       490        500        510        520        530        540 
TLETKSSLPM VHEQAFSSHI LEPIEELSEE EKGRENEQKL NNNKMHLRKA LKSNSSLTKG 

       550        560        570        580        590        600 
LRTMVEQNLM EKLETLGINA DIRGISSDQL HRVLKSVESE RHKQEREIPN FHQIREFLEH 

       610        620        630        640        650        660 
QVSCKIEEKA LLSSDQCSVS QMDTLSTGEV PKMIQLPSKN RQLIRQKAVS TDRTSVPKIK 

       670        680        690        700        710        720 
KNVMEDPFPR KSSTITTPPF SSEEEQEDDD LIRAYASPGP LPVPPPQNKG SFGKNTVKSD 

       730        740        750        760        770        780 
ADGTEGSEIE DTDDSPKPAG VAVKTPTEKV EKMFPHRKNV NKPVGGTNVP EMFIKKEELQ 

       790        800        810        820        830        840 
ELKCADVEDE DWDISSLEEE ISLGKKSGKE QKEPPPAKNE PHFAHVLNAW GAFNPKGPKG 

       850        860 
EGLQENESST LKSSLVTVTD WSDTSDV 

« Hide

Isoform 2 (DZIPt1) (DZIP testis 1) [UniParc].

Checksum: 846EAAA465692C75
Show »

FASTA84896,698
Isoform 3 (DZIPb) (DZIP brain) [UniParc].

Checksum: 3647AE58F3E2915A
Show »

FASTA27730,798

References

« Hide 'large scale' references
[1]"Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins."
Moore F.L., Jaruzelska J., Fox M.S., Urano J., Firpo M.T., Turek P.J., Dorfman D.M., Reijo Pera R.A.
Proc. Natl. Acad. Sci. U.S.A. 100:538-543(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE OF 1-776 (ISOFORM 1), INTERACTION WITH DAZ.
[2]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[3]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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).
Tissue: Testis.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 615-867, VARIANT SER-736.
Tissue: Brain.
[6]"Identification of a novel gene, DZIP (DAZ-interacting protein), that encodes a protein that interacts with DAZ (deleted in azoospermia) and is expressed in embryonic stem cells and germ cells."
Moore F.L., Jaruzelska J., Dorfman D.M., Reijo-Pera R.A.
Genomics 83:834-843(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INTERACTION WITH DAZ.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF272347 mRNA. Translation: AAL36978.1. Sequence problems.
AF272348 mRNA. Translation: AAL36979.1.
AB023213 mRNA. Translation: BAA76840.2. Different initiation.
AL139376 Genomic DNA. Translation: CAH71600.1.
AL139376 Genomic DNA. Translation: CAH71601.1.
BC041804 mRNA. Translation: AAH41804.1.
AL049931 mRNA. Translation: CAB43211.2. Different initiation.
PIRT08668.
RefSeqNP_055749.1. NM_014934.4.
NP_945319.1. NM_198968.3.
UniGeneHs.656580.
Hs.742077.

3D structure databases

ProteinModelPortalQ86YF9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116540. 2 interactions.
IntActQ86YF9. 8 interactions.
STRING9606.ENSP00000257312.

PTM databases

PhosphoSiteQ86YF9.

Polymorphism databases

DMDM50400485.

Proteomic databases

PaxDbQ86YF9.
PRIDEQ86YF9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000347108; ENSP00000257312; ENSG00000134874. [Q86YF9-1]
ENST00000361156; ENSP00000355018; ENSG00000134874. [Q86YF9-2]
ENST00000361396; ENSP00000355175; ENSG00000134874. [Q86YF9-2]
ENST00000376829; ENSP00000366025; ENSG00000134874. [Q86YF9-1]
ENST00000466569; ENSP00000431168; ENSG00000134874. [Q86YF9-3]
GeneID22873.
KEGGhsa:22873.
UCSCuc001vmk.4. human. [Q86YF9-1]
uc001vml.4. human. [Q86YF9-2]

Organism-specific databases

CTD22873.
GeneCardsGC13M096230.
HGNCHGNC:20908. DZIP1.
HPAHPA054891.
HPA057272.
MIM608671. gene.
neXtProtNX_Q86YF9.
PharmGKBPA134960194.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79110.
HOVERGENHBG059529.
InParanoidQ86YF9.
KOK16470.
OMANSALEYQ.
OrthoDBEOG7N0C3X.
PhylomeDBQ86YF9.
TreeFamTF330044.

Gene expression databases

ArrayExpressQ86YF9.
BgeeQ86YF9.
CleanExHS_DZIP1.
GenevestigatorQ86YF9.

Family and domain databases

InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 1 hit.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 1 hit.
PS50157. ZINC_FINGER_C2H2_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDZIP1. human.
GeneWikiDZIP1.
GenomeRNAi22873.
NextBio43419.
PROQ86YF9.
SOURCESearch...

Entry information

Entry nameDZIP1_HUMAN
AccessionPrimary (citable) accession number: Q86YF9
Secondary accession number(s): Q5W078 expand/collapse secondary AC list , Q5W079, Q8WY45, Q8WY46, Q9UGA5, Q9Y2K0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2003
Last modified: April 16, 2014
This is version 93 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM