Q8IZ20 (ZN683_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 683

Gene names

Name:

ZNF683

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	524 AA.
Sequence status	Complete.
Protein existence	Evidence 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

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 524	524	Zinc finger protein 683		PRO_0000234002
Regions
	Zinc finger	322 – 344	23	C2H2-type 1
	Zinc finger	350 – 372	23	C2H2-type 2
	Zinc finger	398 – 420	23	C2H2-type 3; degenerate
	Zinc finger	426 – 448	23	C2H2-type 4
Natural variations
	Alternative sequence	382 – 401	20	Missing in isoform 2.		VSP_018167
	Natural variant	22	1	G → V. Corresponds to variant rs35040247 [ dbSNP | Ensembl ].		VAR_057442
	Natural variant	48	1	D → G. Corresponds to variant rs10794532 [ dbSNP | Ensembl ].		VAR_057443
	Natural variant	53	1	H → R. Corresponds to variant rs10794531 [ dbSNP | Ensembl ].		VAR_057444
	Natural variant	204	1	H → N. Ref.2 Corresponds to variant rs17852672 [ dbSNP | Ensembl ].		VAR_026155
	Natural variant	288	1	R → L. Corresponds to variant rs11247933 [ dbSNP | Ensembl ].		VAR_057445

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 2, 2008. Version 3. Checksum: F6D800F2A8EE829A	FASTA	524	56,905
	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
	Isoform 2 [UniParc]. Checksum: F98ABF65955604E8	FASTA	504	54,343
	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 SVCHKRFSSS SNLKTHLRLH SGARPFQCSV CRSRFTQHIH 430 440 450 460 470 480 LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA VASEKHMGYD IDEVKVSSTS 490 500 QGKARAVSLS SAGTPLVMGQ DQNN

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. , 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.
IPI	IPI00176335. IPI00335135.
RefSeq	NP_001108231.1. NM_001114759.1. NP_775845.2. NM_173574.2.
UniGene	Hs.353208.
3D structure databases
ProteinModelPortal	Q8IZ20.
ModBase	Search...
Polymorphism databases
DMDM	205371859.
Proteomic databases
PaxDb	Q8IZ20.
PRIDE	Q8IZ20.
Protocols and materials databases
DNASU	257101.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000349618; ENSP00000344095; ENSG00000176083. ENST00000374204; ENSP00000363320; ENSG00000176083. ENST00000403843; ENSP00000384782; ENSG00000176083. ENST00000416125; ENSP00000401961; ENSG00000176083. ENST00000423508; ENSP00000391584; ENSG00000176083. ENST00000436292; ENSP00000388792; ENSG00000176083. ENST00000451801; ENSP00000411290; ENSG00000176083. ENST00000455900; ENSP00000411289; ENSG00000176083.
GeneID	257101.
KEGG	hsa:257101.
UCSC	uc001bmg.1. human. uc001bmh.1. human.
Organism-specific databases
CTD	257101.
GeneCards	GC01M026688.
HGNC	HGNC:28495. ZNF683.
HPA	HPA023865.
neXtProt	NX_Q8IZ20.
PharmGKB	PA142670484.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000155807.
InParanoid	Q8IZ20.
OMA	CALCQKS.
OrthoDB	EOG4KD6KS.
Gene expression databases
ArrayExpress	Q8IZ20.
Bgee	Q8IZ20.
CleanEx	HS_ZNF683.
Genevestigator	Q8IZ20.
GermOnline	ENSG00000176083. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 4 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
SMART	SM00355. ZnF_C2H2. 4 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 3 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	257101.
NextBio	92926.

Entry information

Entry name

ZN683_HUMAN

Accession

Primary (citable) accession number: Q8IZ20
Secondary accession number(s): Q5T141 , Q5T146, Q5T147, Q5T149, Q8NEN4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
Last sequence update:	September 2, 2008
Last modified:	May 1, 2013
This is version 95 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.