Q96IT1 (ZN496_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 496

Alternative name(s):
Zinc finger protein with KRAB and SCAN domains 17

Gene names

Name:	ZNF496
Synonyms:	ZKSCAN17

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	587 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	DNA-binding transcription factor that can both act as an activator and a repressor By similarity.
Subunit structure	Interacts (via zinc-fingers) with JARID2. Interacts with NSD1 By similarity.
Subcellular location	Nucleus By similarity.
Domain	The C2H2-type zinc finger 1, also named C2HR, mediates the interaction with NSD1 By similarity.
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers. Contains 1 KRAB domain. Contains 1 SCAN box domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW viral reproduction Inferred from electronic annotation. Source: InterPro
Molecular function	DNA binding Inferred from sequence or structural similarity. Source: UniProtKB sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ARR3	P36575	2	EBI-743906,EBI-718116

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96IT1-1)

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: Q96IT1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     217-217: P → PRIFQFNNHRSNGYILEMLGSGGKKAQIISVLSQIYV

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 587	587	Zinc finger protein 496		PRO_0000047617
Regions
	Domain	42 – 124	83	SCAN box
	Domain	221 – 291	71	KRAB
	Zinc finger	406 – 428	23	C2H2-type 1; degenerate
	Zinc finger	435 – 457	23	C2H2-type 2
	Zinc finger	463 – 485	23	C2H2-type 3
	Zinc finger	522 – 545	24	C2H2-type 4
	Zinc finger	553 – 575	23	C2H2-type 5
Amino acid modifications
	Modified residue	185	1	Phosphoserine Ref.3
	Modified residue	299	1	Phosphoserine Ref.4
Natural variations
	Alternative sequence	217	1	P → PRIFQFNNHRSNGYILEMLG SGGKKAQIISVLSQIYV in isoform 2.		VSP_038755

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 72A4F4D5CD309013	FASTA	587	66,908
	10 20 30 40 50 60 MPTALCPRVL APKESEEPRK MRSPPGENPS PQGELPSPES SRRLFRRFRY QEAAGPREAL 70 80 90 100 110 120 QRLWDLCGGW LRPERHTKEQ ILELLVLEQF LAILPREIQS WVRAQEPESG EQAVAAVEAL 130 140 150 160 170 180 EREPGRPWQW LKHCEDPVVI DDGDSPLDQE QEQLPVEPHS DLAKNQDAQP ITLAQCLGLP 190 200 210 220 230 240 SRPPSQLSGD PVLQDAFLLQ EENVRDTQQV TTLQLPPSRV SPFKDMILCF SEEDWSLLDP 250 260 270 280 290 300 AQTGFYGEFI IGEDYGVSMP PNDLAAQPDL SQGEENEPRV PELQDLQGKE VPQVSYLDSP 310 320 330 340 350 360 SLQPFQVEER RKREELQVPE FQACPQTVVP QNTYPAGGNP RSLENSLDEE VTIEIVLSSS 370 380 390 400 410 420 GDEDSQHGPY CTEELGSPTE KQRSLPASHR SSTEAGGEVQ TSKKSYVCPN CGKIFRWRVN 430 440 450 460 470 480 FIRHLRSRRE QEKPHECSVC GELFSDSEDL DGHLESHEAQ KPYRCGACGK SFRLNSHLLS 490 500 510 520 530 540 HRRIHLQPDR LQPVEKREQA ASEDADKGPK EPLENGKAKL SFQCCECGKA FQRHDHLARH 550 560 570 580 RSHFHLKDKA RPFQCRYCVK SFTQNYDLLR HERLHMKRRS KQALNSY
	Isoform 2 [UniParc]. Checksum: DF5166381C72A355	FASTA	623	70,973
	10 20 30 40 50 60 MPTALCPRVL APKESEEPRK MRSPPGENPS PQGELPSPES SRRLFRRFRY QEAAGPREAL 70 80 90 100 110 120 QRLWDLCGGW LRPERHTKEQ ILELLVLEQF LAILPREIQS WVRAQEPESG EQAVAAVEAL 130 140 150 160 170 180 EREPGRPWQW LKHCEDPVVI DDGDSPLDQE QEQLPVEPHS DLAKNQDAQP ITLAQCLGLP 190 200 210 220 230 240 SRPPSQLSGD PVLQDAFLLQ EENVRDTQQV TTLQLPPRIF QFNNHRSNGY ILEMLGSGGK 250 260 270 280 290 300 KAQIISVLSQ IYVSRVSPFK DMILCFSEED WSLLDPAQTG FYGEFIIGED YGVSMPPNDL 310 320 330 340 350 360 AAQPDLSQGE ENEPRVPELQ DLQGKEVPQV SYLDSPSLQP FQVEERRKRE ELQVPEFQAC 370 380 390 400 410 420 PQTVVPQNTY PAGGNPRSLE NSLDEEVTIE IVLSSSGDED SQHGPYCTEE LGSPTEKQRS 430 440 450 460 470 480 LPASHRSSTE AGGEVQTSKK SYVCPNCGKI FRWRVNFIRH LRSRREQEKP HECSVCGELF 490 500 510 520 530 540 SDSEDLDGHL ESHEAQKPYR CGACGKSFRL NSHLLSHRRI HLQPDRLQPV EKREQAASED 550 560 570 580 590 600 ADKGPKEPLE NGKAKLSFQC CECGKAFQRH DHLARHRSHF HLKDKARPFQ CRYCVKSFTQ 610 620 NYDLLRHERL HMKRRSKQAL NSY

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: 16710414] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 112-587 (ISOFORM 2). Tissue: Colon and Lung.
[3]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-185, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[4]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC104335 Genomic DNA. No translation available. BC007263 mRNA. Translation: AAH07263.1. BC025794 mRNA. Translation: AAH25794.1.
IPI	IPI00063800. IPI00152251.
RefSeq	NP_116141.1. NM_032752.1.
UniGene	Hs.654803.
3D structure databases
ProteinModelPortal	Q96IT1.
SMR	Q96IT1. Positions 34-125, 216-269, 311-584.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96IT1. 2 interactions.
MINT	MINT-1456018.
STRING	Q96IT1.
PTM databases
PhosphoSite	Q96IT1.
Polymorphism databases
DMDM	55976755.
Proteomic databases
PRIDE	Q96IT1.
Protocols and materials databases
DNASU	84838.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000294753; ENSP00000294753; ENSG00000162714.
GeneID	84838.
KEGG	hsa:84838.
UCSC	uc001ico.3. human. uc009xgv.3. human.
Organism-specific databases
CTD	84838.
GeneCards	GC01M247460.
HGNC	HGNC:23713. ZNF496.
MIM	613911. gene.
neXtProt	NX_Q96IT1.
PharmGKB	PA134888470.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG254109.
GeneTree	ENSGT00650000092961.
HOGENOM	HOG000234619.
HOVERGEN	HBG058089.
KO	K09229.
OrthoDB	EOG4FBHSF.
PhylomeDB	Q96IT1.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q96IT1.
Bgee	Q96IT1.
CleanEx	HS_ZNF496.
Genevestigator	Q96IT1.
GermOnline	ENSG00000162714. Homo sapiens.
Family and domain databases
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 5 hits.
InterPro	IPR001909. Krueppel-associated_box. IPR008916. Retrov_capsid_C. IPR003309. Tscrpt_reg_SCAN. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF01352. KRAB. 1 hit. PF02023. SCAN. 1 hit. PF00096. zf-C2H2. 4 hits. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00431. SCAN. 1 hit. SM00355. ZnF_C2H2. 5 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit. SSF47353. Retrov_capsid_C. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS50804. SCAN_BOX. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 4 hits. PS50157. ZINC_FINGER_C2H2_2. 5 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	75061.
SOURCE	Search...

Entry information

Entry name

ZN496_HUMAN

Accession

Primary (citable) accession number: Q96IT1
Secondary accession number(s): Q8TBS2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 23, 2004
Last sequence update:	December 1, 2001
Last modified:	May 16, 2012
This is version 84 of the entry and version 1 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.