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Q8IZ20

- ZN683_HUMAN

UniProt

Q8IZ20 - ZN683_HUMAN

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Protein

Zinc finger protein 683

Gene

ZNF683

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 fingeri322 – 34423C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri350 – 37223C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri398 – 42023C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri426 – 44823C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. natural killer cell differentiation Source: Ensembl
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger protein 683
Gene namesi
Name:ZNF683
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28495. ZNF683.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670484.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 524524Zinc finger protein 683PRO_0000234002Add
BLAST

Proteomic databases

PaxDbiQ8IZ20.
PRIDEiQ8IZ20.

Expressioni

Gene expression databases

BgeeiQ8IZ20.
CleanExiHS_ZNF683.
ExpressionAtlasiQ8IZ20. baseline.
GenevestigatoriQ8IZ20.

Organism-specific databases

HPAiHPA023865.

Structurei

3D structure databases

ProteinModelPortaliQ8IZ20.
SMRiQ8IZ20. Positions 322-478.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 4 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri322 – 34423C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri350 – 37223C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri398 – 42023C2H2-type 3; degeneratePROSITE-ProRule annotationAdd
BLAST
Zinc fingeri426 – 44823C2H2-type 4PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
GeneTreeiENSGT00740000115517.
HOGENOMiHOG000155807.
InParanoidiQ8IZ20.
OMAiFQCALCQ.
OrthoDBiEOG7VMP5D.
PhylomeDBiQ8IZ20.
TreeFamiTF316545.

Family and domain databases

Gene3Di3.30.160.60. 4 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IZ20-1) [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
MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV
60 70 80 90 100
DAHGPSCASW LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ
110 120 130 140 150
EDALSMKHEP PGLQASSTDD KKFTVKYPQN KDKLGKQPER AGEGAPCPAF
160 170 180 190 200
SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS ISKELPFLLH AFYPGYPLLL
210 220 230 240 250
PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV NELGHPSARW
260 270 280 290 300
ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
310 320 330 340 350
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF
360 370 380 390 400
QCALCQKSFT QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER
410 420 430 440 450
EVCHKRFSSS SNLKTHLRLH SGARPFQCSV CRSRFTQHIH LKLHHRLHAP
460 470 480 490 500
QPCGLVHTQL PLASLACLAQ WHQGALDLMA VASEKHMGYD IDEVKVSSTS
510 520
QGKARAVSLS SAGTPLVMGQ DQNN
Length:524
Mass (Da):56,905
Last modified:September 2, 2008 - v3
Checksum:iF6D800F2A8EE829A
GO
Isoform 2 (identifier: Q8IZ20-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     382-401: Missing.

Note: No experimental confirmation available.

Show »
Length:504
Mass (Da):54,343
Checksum:iF98ABF65955604E8
GO

Sequence cautioni

The sequence AAH28731.2 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH29505.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI15857.2 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI15858.2 differs from that shown. Reason: Erroneous initiation. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221G → V.
Corresponds to variant rs35040247 [ dbSNP | Ensembl ].
VAR_057442
Natural varianti48 – 481D → G.
Corresponds to variant rs10794532 [ dbSNP | Ensembl ].
VAR_057443
Natural varianti53 – 531H → R.
Corresponds to variant rs10794531 [ dbSNP | Ensembl ].
VAR_057444
Natural varianti204 – 2041H → N.1 Publication
Corresponds to variant rs17852672 [ dbSNP | Ensembl ].
VAR_026155
Natural varianti288 – 2881R → L.
Corresponds to variant rs11247933 [ dbSNP | Ensembl ].
VAR_057445

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei382 – 40120Missing in isoform 2. 1 PublicationVSP_018167Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL451139 Genomic DNA. Translation: CAI15853.2.
AL451139 Genomic DNA. Translation: CAI15854.2.
AL451139 Genomic DNA. Translation: CAI15855.2.
AL451139 Genomic DNA. Translation: CAI15856.2.
AL451139 Genomic DNA. Translation: CAI15857.2. Different initiation.
AL451139 Genomic DNA. Translation: CAI15858.2. Different initiation.
BC028731 mRNA. Translation: AAH28731.2. Different initiation.
BC029505 mRNA. Translation: AAH29505.1. Different initiation.
CCDSiCCDS279.2. [Q8IZ20-2]
RefSeqiNP_001108231.1. NM_001114759.1. [Q8IZ20-2]
NP_775845.2. NM_173574.2. [Q8IZ20-2]
XP_005245887.1. XM_005245830.1. [Q8IZ20-1]
XP_005245888.1. XM_005245831.1. [Q8IZ20-1]
XP_005245889.1. XM_005245832.1. [Q8IZ20-1]
XP_006710619.1. XM_006710556.1. [Q8IZ20-1]
XP_006710620.1. XM_006710557.1. [Q8IZ20-1]
UniGeneiHs.353208.

Genome annotation databases

EnsembliENST00000349618; ENSP00000344095; ENSG00000176083. [Q8IZ20-2]
ENST00000403843; ENSP00000384782; ENSG00000176083. [Q8IZ20-1]
ENST00000436292; ENSP00000388792; ENSG00000176083. [Q8IZ20-1]
GeneIDi257101.
KEGGihsa:257101.
UCSCiuc001bmg.1. human. [Q8IZ20-1]
uc001bmh.1. human. [Q8IZ20-2]

Polymorphism databases

DMDMi205371859.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL451139 Genomic DNA. Translation: CAI15853.2 .
AL451139 Genomic DNA. Translation: CAI15854.2 .
AL451139 Genomic DNA. Translation: CAI15855.2 .
AL451139 Genomic DNA. Translation: CAI15856.2 .
AL451139 Genomic DNA. Translation: CAI15857.2 . Different initiation.
AL451139 Genomic DNA. Translation: CAI15858.2 . Different initiation.
BC028731 mRNA. Translation: AAH28731.2 . Different initiation.
BC029505 mRNA. Translation: AAH29505.1 . Different initiation.
CCDSi CCDS279.2. [Q8IZ20-2 ]
RefSeqi NP_001108231.1. NM_001114759.1. [Q8IZ20-2 ]
NP_775845.2. NM_173574.2. [Q8IZ20-2 ]
XP_005245887.1. XM_005245830.1. [Q8IZ20-1 ]
XP_005245888.1. XM_005245831.1. [Q8IZ20-1 ]
XP_005245889.1. XM_005245832.1. [Q8IZ20-1 ]
XP_006710619.1. XM_006710556.1. [Q8IZ20-1 ]
XP_006710620.1. XM_006710557.1. [Q8IZ20-1 ]
UniGenei Hs.353208.

3D structure databases

ProteinModelPortali Q8IZ20.
SMRi Q8IZ20. Positions 322-478.
ModBasei Search...
MobiDBi Search...

Polymorphism databases

DMDMi 205371859.

Proteomic databases

PaxDbi Q8IZ20.
PRIDEi Q8IZ20.

Protocols and materials databases

DNASUi 257101.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000349618 ; ENSP00000344095 ; ENSG00000176083 . [Q8IZ20-2 ]
ENST00000403843 ; ENSP00000384782 ; ENSG00000176083 . [Q8IZ20-1 ]
ENST00000436292 ; ENSP00000388792 ; ENSG00000176083 . [Q8IZ20-1 ]
GeneIDi 257101.
KEGGi hsa:257101.
UCSCi uc001bmg.1. human. [Q8IZ20-1 ]
uc001bmh.1. human. [Q8IZ20-2 ]

Organism-specific databases

CTDi 257101.
GeneCardsi GC01M026688.
HGNCi HGNC:28495. ZNF683.
HPAi HPA023865.
neXtProti NX_Q8IZ20.
PharmGKBi PA142670484.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
GeneTreei ENSGT00740000115517.
HOGENOMi HOG000155807.
InParanoidi Q8IZ20.
OMAi FQCALCQ.
OrthoDBi EOG7VMP5D.
PhylomeDBi Q8IZ20.
TreeFami TF316545.

Miscellaneous databases

GenomeRNAii 257101.
NextBioi 92926.
PROi Q8IZ20.

Gene expression databases

Bgeei Q8IZ20.
CleanExi HS_ZNF683.
ExpressionAtlasi Q8IZ20. baseline.
Genevestigatori Q8IZ20.

Family and domain databases

Gene3Di 3.30.160.60. 4 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 4 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORMS 1 AND 2), VARIANT ASN-204.
    Tissue: Testis.

Entry informationi

Entry nameiZN683_HUMAN
AccessioniPrimary (citable) accession number: Q8IZ20
Secondary accession number(s): Q5T141
, Q5T146, Q5T147, Q5T149, Q8NEN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: September 2, 2008
Last modified: November 26, 2014
This is version 109 of the entry and version 3 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 1
    Human chromosome 1: 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