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Q96NL3

- ZN599_HUMAN

UniProt

Q96NL3 - ZN599_HUMAN

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Protein

Zinc finger protein 599

Gene

ZNF599

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

May be involved in transcriptional regulation.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri199 – 22123C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri227 – 24923C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri255 – 27723C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri283 – 30523C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri311 – 33323C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri339 – 36123C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri367 – 38923C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri395 – 41723C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri423 – 44523C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri451 – 47323C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri479 – 50123C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri507 – 52923C2H2-type 12PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri535 – 55723C2H2-type 13PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri563 – 58523C2H2-type 14PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_12627. Generic Transcription Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 599
Gene namesi
Name:ZNF599
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:26408. ZNF599.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134983786.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 588588Zinc finger protein 599PRO_0000234592Add
BLAST

Proteomic databases

PaxDbiQ96NL3.
PRIDEiQ96NL3.

PTM databases

PhosphoSiteiQ96NL3.

Expressioni

Gene expression databases

BgeeiQ96NL3.
CleanExiHS_ZNF599.
ExpressionAtlasiQ96NL3. baseline and differential.
GenevestigatoriQ96NL3.

Organism-specific databases

HPAiHPA014701.

Interactioni

Protein-protein interaction databases

BioGridi127117. 1 interaction.
IntActiQ96NL3. 1 interaction.
STRINGi9606.ENSP00000333802.

Structurei

3D structure databases

ProteinModelPortaliQ96NL3.
SMRiQ96NL3. Positions 198-587.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 8072KRABPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 14 C2H2-type zinc fingers.PROSITE-ProRule annotation
Contains 1 KRAB domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri199 – 22123C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri227 – 24923C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri255 – 27723C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri283 – 30523C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri311 – 33323C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri339 – 36123C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri367 – 38923C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri395 – 41723C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri423 – 44523C2H2-type 9PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri451 – 47323C2H2-type 10PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri479 – 50123C2H2-type 11PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri507 – 52923C2H2-type 12PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri535 – 55723C2H2-type 13PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri563 – 58523C2H2-type 14PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00750000117699.
HOGENOMiHOG000234617.
HOVERGENiHBG018163.
InParanoidiQ96NL3.
KOiK09228.
OMAiFCDNFAL.
OrthoDBiEOG7KSX7Q.
PhylomeDBiQ96NL3.
TreeFamiTF341817.

Family and domain databases

Gene3Di3.30.160.60. 15 hits.
InterProiIPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
PfamiPF01352. KRAB. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 14 hits.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 14 hits.
PS50157. ZINC_FINGER_C2H2_2. 14 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96NL3-1) [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
MAAPALALVS FEDVVVTFTG EEWGHLDLAQ RTLYQEVMLE TCRLLVSLGH
60 70 80 90 100
PVPKPELIYL LEHGQELWTV KRGLSQSTCA GEKAKPKITE PTASQLAFSE
110 120 130 140 150
ESSFQELLAQ RSSRDSRLGQ ARDEEKLIKI QEGNLRPGTN PHKEICPEKL
160 170 180 190 200
SYKHDDLEPD DSLGLRVLQE RVTPQDALHE CDSQGPGKDP MTDARNNPYT
210 220 230 240 250
CTECGKGFSK KWALVRHQQI HAGVKPYECN ECGKACRYMA DVIRHMRLHT
260 270 280 290 300
GEKPYKCIEC GKAFKRRFHL TEHQRIHTGD KPYECKECGK AFTHRSSFIQ
310 320 330 340 350
HNMTHTREKP FLCKECGKAF YYSSSFAQHM RIHTGKKLYE CGECGKAFTH
360 370 380 390 400
RSTFIQHNVT HTGEKPFLCK ECGKTFCLNS SFTQHMRIHT GEKPYECGEC
410 420 430 440 450
GKAFTHRSTF IRHKRTHTGE KPFECKECGK AFCDSSSLIQ HMRIHTGEKP
460 470 480 490 500
YECSECGKAF THHSVFIRHN RTHSGQKPLE CKECAKAFYY SSSFTRHMRI
510 520 530 540 550
HTGEKPYVCR ECGKAFTQPA NFVRHNRIHT GEKPFECKEC EKAFCDNFAL
560 570 580
TQHMRTHTGE KPFECNECGK TFSHSSSFTH HRKIHTRV
Length:588
Mass (Da):67,492
Last modified:December 1, 2001 - v1
Checksum:i0A6E87DD0A817D57
GO
Isoform 2 (identifier: Q96NL3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-95: GEKAKPKITEPTASQ → ASFSLLWKSYHPGHG
     96-588: Missing.

Note: No experimental confirmation available.

Show »
Length:95
Mass (Da):10,606
Checksum:iF9A4A7F085A0E1D9
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti459 – 4591A → T in AAH44615. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781L → F De novo variant found in a patient with mental retardation. 1 Publication
VAR_065087

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei81 – 9515GEKAK…PTASQ → ASFSLLWKSYHPGHG in isoform 2. 1 PublicationVSP_018385Add
BLAST
Alternative sequencei96 – 588493Missing in isoform 2. 1 PublicationVSP_018386Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055225 mRNA. Translation: BAB70879.1.
BC044615 mRNA. Translation: AAH44615.1. Different initiation.
BC092428 mRNA. Translation: AAH92428.1.
CCDSiCCDS32991.1. [Q96NL3-1]
RefSeqiNP_001007249.1. NM_001007248.2. [Q96NL3-1]
UniGeneiHs.590961.

Genome annotation databases

EnsembliENST00000329285; ENSP00000333802; ENSG00000153896. [Q96NL3-1]
ENST00000587354; ENSP00000468446; ENSG00000153896. [Q96NL3-2]
GeneIDi148103.
KEGGihsa:148103.
UCSCiuc010edm.2. human. [Q96NL3-1]
uc010edo.3. human. [Q96NL3-2]

Polymorphism databases

DMDMi74762682.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055225 mRNA. Translation: BAB70879.1 .
BC044615 mRNA. Translation: AAH44615.1 . Different initiation.
BC092428 mRNA. Translation: AAH92428.1 .
CCDSi CCDS32991.1. [Q96NL3-1 ]
RefSeqi NP_001007249.1. NM_001007248.2. [Q96NL3-1 ]
UniGenei Hs.590961.

3D structure databases

ProteinModelPortali Q96NL3.
SMRi Q96NL3. Positions 198-587.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127117. 1 interaction.
IntActi Q96NL3. 1 interaction.
STRINGi 9606.ENSP00000333802.

PTM databases

PhosphoSitei Q96NL3.

Polymorphism databases

DMDMi 74762682.

Proteomic databases

PaxDbi Q96NL3.
PRIDEi Q96NL3.

Protocols and materials databases

DNASUi 148103.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329285 ; ENSP00000333802 ; ENSG00000153896 . [Q96NL3-1 ]
ENST00000587354 ; ENSP00000468446 ; ENSG00000153896 . [Q96NL3-2 ]
GeneIDi 148103.
KEGGi hsa:148103.
UCSCi uc010edm.2. human. [Q96NL3-1 ]
uc010edo.3. human. [Q96NL3-2 ]

Organism-specific databases

CTDi 148103.
GeneCardsi GC19M035248.
HGNCi HGNC:26408. ZNF599.
HPAi HPA014701.
neXtProti NX_Q96NL3.
PharmGKBi PA134983786.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00750000117699.
HOGENOMi HOG000234617.
HOVERGENi HBG018163.
InParanoidi Q96NL3.
KOi K09228.
OMAi FCDNFAL.
OrthoDBi EOG7KSX7Q.
PhylomeDBi Q96NL3.
TreeFami TF341817.

Enzyme and pathway databases

Reactomei REACT_12627. Generic Transcription Pathway.

Miscellaneous databases

GenomeRNAii 148103.
NextBioi 85827.
PROi Q96NL3.

Gene expression databases

Bgeei Q96NL3.
CleanExi HS_ZNF599.
ExpressionAtlasi Q96NL3. baseline and differential.
Genevestigatori Q96NL3.

Family and domain databases

Gene3Di 3.30.160.60. 15 hits.
InterProi IPR001909. Krueppel-associated_box.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
Pfami PF01352. KRAB. 1 hit.
[Graphical view ]
SMARTi SM00349. KRAB. 1 hit.
SM00355. ZnF_C2H2. 14 hits.
[Graphical view ]
SUPFAMi SSF109640. SSF109640. 1 hit.
PROSITEi PS50805. KRAB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 14 hits.
PS50157. ZINC_FINGER_C2H2_2. 14 hits.
[Graphical view ]
ProtoNeti Search...

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 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. Cited for: VARIANT PHE-178.

Entry informationi

Entry nameiZN599_HUMAN
AccessioniPrimary (citable) accession number: Q96NL3
Secondary accession number(s): Q569K0, Q5PRG1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 107 of the entry and version 1 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 19
    Human chromosome 19: 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

External Data

Dasty 3