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Q96NL3 (ZN599_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Zinc finger protein 599
Gene names
Name:ZNF599
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length588 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be involved in transcriptional regulation.

Subcellular location

Nucleus Probable.

Sequence similarities

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

Contains 14 C2H2-type zinc fingers.

Contains 1 KRAB domain.

Sequence caution

The sequence AAH44615.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96NL3-1)

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: Q96NL3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     81-95: GEKAKPKITEPTASQ → ASFSLLWKSYHPGHG
     96-588: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 588588Zinc finger protein 599
PRO_0000234592

Regions

Domain9 – 8072KRAB
Zinc finger199 – 22123C2H2-type 1
Zinc finger227 – 24923C2H2-type 2
Zinc finger255 – 27723C2H2-type 3
Zinc finger283 – 30523C2H2-type 4
Zinc finger311 – 33323C2H2-type 5
Zinc finger339 – 36123C2H2-type 6
Zinc finger367 – 38923C2H2-type 7
Zinc finger395 – 41723C2H2-type 8
Zinc finger423 – 44523C2H2-type 9
Zinc finger451 – 47323C2H2-type 10
Zinc finger479 – 50123C2H2-type 11
Zinc finger507 – 52923C2H2-type 12
Zinc finger535 – 55723C2H2-type 13
Zinc finger563 – 58523C2H2-type 14

Natural variations

Alternative sequence81 – 9515GEKAK…PTASQ → ASFSLLWKSYHPGHG in isoform 2.
VSP_018385
Alternative sequence96 – 588493Missing in isoform 2.
VSP_018386
Natural variant1781L → F De novo variant found in a patient with mental retardation. Ref.3
VAR_065087

Experimental info

Sequence conflict4591A → T in AAH44615. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 0A6E87DD0A817D57

FASTA58867,492
        10         20         30         40         50         60 
MAAPALALVS FEDVVVTFTG EEWGHLDLAQ RTLYQEVMLE TCRLLVSLGH PVPKPELIYL 

        70         80         90        100        110        120 
LEHGQELWTV KRGLSQSTCA GEKAKPKITE PTASQLAFSE ESSFQELLAQ RSSRDSRLGQ 

       130        140        150        160        170        180 
ARDEEKLIKI QEGNLRPGTN PHKEICPEKL SYKHDDLEPD DSLGLRVLQE RVTPQDALHE 

       190        200        210        220        230        240 
CDSQGPGKDP MTDARNNPYT CTECGKGFSK KWALVRHQQI HAGVKPYECN ECGKACRYMA 

       250        260        270        280        290        300 
DVIRHMRLHT GEKPYKCIEC GKAFKRRFHL TEHQRIHTGD KPYECKECGK AFTHRSSFIQ 

       310        320        330        340        350        360 
HNMTHTREKP FLCKECGKAF YYSSSFAQHM RIHTGKKLYE CGECGKAFTH RSTFIQHNVT 

       370        380        390        400        410        420 
HTGEKPFLCK ECGKTFCLNS SFTQHMRIHT GEKPYECGEC GKAFTHRSTF IRHKRTHTGE 

       430        440        450        460        470        480 
KPFECKECGK AFCDSSSLIQ HMRIHTGEKP YECSECGKAF THHSVFIRHN RTHSGQKPLE 

       490        500        510        520        530        540 
CKECAKAFYY SSSFTRHMRI HTGEKPYVCR ECGKAFTQPA NFVRHNRIHT GEKPFECKEC 

       550        560        570        580 
EKAFCDNFAL TQHMRTHTGE KPFECNECGK TFSHSSSFTH HRKIHTRV 

« Hide

Isoform 2 [UniParc].

Checksum: F9A4A7F085A0E1D9
Show »

FASTA9510,606

References

« Hide 'large scale' references
[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. expand/collapse author list , 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 1).
Tissue: Brain.
[2]"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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 33-588 (ISOFORM 1).
Tissue: Testis.
[3]"A de novo paradigm for mental retardation."
Vissers L.E., de Ligt J., Gilissen C., Janssen I., Steehouwer M., de Vries P., van Lier B., Arts P., Wieskamp N., del Rosario M., van Bon B.W., Hoischen A., de Vries B.B., Brunner H.G., Veltman J.A.
Nat. Genet. 42:1109-1112(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PHE-178.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK055225 mRNA. Translation: BAB70879.1.
BC044615 mRNA. Translation: AAH44615.1. Different initiation.
BC092428 mRNA. Translation: AAH92428.1.
RefSeqNP_001007249.1. NM_001007248.2.
UniGeneHs.590961.

3D structure databases

ProteinModelPortalQ96NL3.
SMRQ96NL3. Positions 3-57, 192-587.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127117. 1 interaction.
IntActQ96NL3. 1 interaction.
STRING9606.ENSP00000333802.

PTM databases

PhosphoSiteQ96NL3.

Polymorphism databases

DMDM74762682.

Proteomic databases

PaxDbQ96NL3.
PRIDEQ96NL3.

Protocols and materials databases

DNASU148103.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000329285; ENSP00000333802; ENSG00000153896. [Q96NL3-1]
ENST00000587354; ENSP00000468446; ENSG00000153896. [Q96NL3-2]
GeneID148103.
KEGGhsa:148103.
UCSCuc010edm.2. human. [Q96NL3-1]
uc010edo.3. human. [Q96NL3-2]

Organism-specific databases

CTD148103.
GeneCardsGC19M035248.
HGNCHGNC:26408. ZNF599.
HPAHPA014701.
neXtProtNX_Q96NL3.
PharmGKBPA134983786.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000234617.
HOVERGENHBG018163.
InParanoidQ96NL3.
KOK09228.
OMAFCDNFAL.
OrthoDBEOG7KSX7Q.
PhylomeDBQ96NL3.
TreeFamTF341817.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ96NL3.
BgeeQ96NL3.
CleanExHS_ZNF599.
GenevestigatorQ96NL3.

Family and domain databases

Gene3D3.30.160.60. 15 hits.
InterProIPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamPF01352. KRAB. 1 hit.
[Graphical view]
SMARTSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 14 hits.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 14 hits.
PS50157. ZINC_FINGER_C2H2_2. 14 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi148103.
NextBio85827.
PROQ96NL3.

Entry information

Entry nameZN599_HUMAN
AccessionPrimary (citable) accession number: Q96NL3
Secondary accession number(s): Q569K0, Q5PRG1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 101 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

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 19

Human chromosome 19: entries, gene names and cross-references to MIM