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Q8IZ20 (ZN683_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. 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 683
Gene names
Name:ZNF683
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length524 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 4 C2H2-type zinc fingers.

Sequence caution

The sequence AAH28731.2 differs from that shown. Reason: Erroneous initiation.

The sequence AAH29505.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAI15857.2 differs from that shown. Reason: Erroneous initiation.

The sequence CAI15858.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZ20-1)

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: Q8IZ20-2)

The sequence of this isoform differs from the canonical sequence as follows:
     382-401: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 524524Zinc finger protein 683
PRO_0000234002

Regions

Zinc finger322 – 34423C2H2-type 1
Zinc finger350 – 37223C2H2-type 2
Zinc finger398 – 42023C2H2-type 3; degenerate
Zinc finger426 – 44823C2H2-type 4

Natural variations

Alternative sequence382 – 40120Missing in isoform 2.
VSP_018167
Natural variant221G → V.
Corresponds to variant rs35040247 [ dbSNP | Ensembl ].
VAR_057442
Natural variant481D → G.
Corresponds to variant rs10794532 [ dbSNP | Ensembl ].
VAR_057443
Natural variant531H → R.
Corresponds to variant rs10794531 [ dbSNP | Ensembl ].
VAR_057444
Natural variant2041H → N. Ref.2
Corresponds to variant rs17852672 [ dbSNP | Ensembl ].
VAR_026155
Natural variant2881R → L.
Corresponds to variant rs11247933 [ dbSNP | Ensembl ].
VAR_057445

Sequences

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

Last modified September 2, 2008. Version 3.
Checksum: F6D800F2A8EE829A

FASTA52456,905
        10         20         30         40         50         60 
MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV DAHGPSCASW 

        70         80         90        100        110        120 
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD 

       130        140        150        160        170        180 
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS 

       190        200        210        220        230        240 
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV 

       250        260        270        280        290        300 
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL 

       310        320        330        340        350        360 
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT 

       370        380        390        400        410        420 
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH 

       430        440        450        460        470        480 
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA 

       490        500        510        520 
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN 

« Hide

Isoform 2 [UniParc].

Checksum: F98ABF65955604E8
Show »

FASTA50454,343

References

[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS279.2. [Q8IZ20-2]
RefSeqNP_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]
UniGeneHs.353208.

3D structure databases

ProteinModelPortalQ8IZ20.
SMRQ8IZ20. Positions 322-489.
ModBaseSearch...
MobiDBSearch...

Polymorphism databases

DMDM205371859.

Proteomic databases

PaxDbQ8IZ20.
PRIDEQ8IZ20.

Protocols and materials databases

DNASU257101.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349618; ENSP00000344095; ENSG00000176083. [Q8IZ20-2]
ENST00000374204; ENSP00000363320; ENSG00000176083. [Q8IZ20-2]
ENST00000403843; ENSP00000384782; ENSG00000176083. [Q8IZ20-1]
ENST00000436292; ENSP00000388792; ENSG00000176083. [Q8IZ20-1]
GeneID257101.
KEGGhsa:257101.
UCSCuc001bmg.1. human. [Q8IZ20-1]
uc001bmh.1. human. [Q8IZ20-2]

Organism-specific databases

CTD257101.
GeneCardsGC01M026688.
HGNCHGNC:28495. ZNF683.
HPAHPA023865.
neXtProtNX_Q8IZ20.
PharmGKBPA142670484.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000155807.
InParanoidQ8IZ20.
OMAFQCALCQ.
OrthoDBEOG7VMP5D.
PhylomeDBQ8IZ20.
TreeFamTF316545.

Gene expression databases

ArrayExpressQ8IZ20.
BgeeQ8IZ20.
CleanExHS_ZNF683.
GenevestigatorQ8IZ20.

Family and domain databases

Gene3D3.30.160.60. 4 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 4 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi257101.
NextBio92926.
PROQ8IZ20.

Entry information

Entry nameZN683_HUMAN
AccessionPrimary (citable) accession number: Q8IZ20
Secondary accession number(s): Q5T141 expand/collapse secondary AC list , Q5T146, Q5T147, Q5T149, Q8NEN4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: September 2, 2008
Last modified: July 9, 2014
This is version 106 of the entry and version 3 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 1

Human chromosome 1: entries, gene names and cross-references to MIM