Q8TC21 (ZN596_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 596

Gene names

Name:

ZNF596

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	504 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 11 C2H2-type zinc fingers. Contains 1 KRAB domain.
Sequence caution	The sequence AAD05197.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAG36241.1 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 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TC21-1)

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: Q8TC21-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-117: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8TC21-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: Missing.
     235-240: CSDLRK → LIIVNT
     241-504: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 504	504	Zinc finger protein 596		PRO_0000245849
Regions
	Domain	7 – 78	72	KRAB
	Zinc finger	195 – 217	23	C2H2-type 1
	Zinc finger	223 – 245	23	C2H2-type 2
	Zinc finger	251 – 273	23	C2H2-type 3
	Zinc finger	279 – 301	23	C2H2-type 4
	Zinc finger	307 – 329	23	C2H2-type 5
	Zinc finger	335 – 357	23	C2H2-type 6
	Zinc finger	363 – 385	23	C2H2-type 7
	Zinc finger	391 – 413	23	C2H2-type 8
	Zinc finger	419 – 441	23	C2H2-type 9
	Zinc finger	447 – 469	23	C2H2-type 10
	Zinc finger	475 – 497	23	C2H2-type 11
Natural variations
	Alternative sequence	1 – 101	101	Missing in isoform 3.		VSP_019801
	Alternative sequence	48 – 117	70	Missing in isoform 2.		VSP_019802
	Alternative sequence	235 – 240	6	CSDLRK → LIIVNT in isoform 3.		VSP_019803
	Alternative sequence	241 – 504	264	Missing in isoform 3.		VSP_019804
	Natural variant	136	1	T → K. Corresponds to variant rs2074718 [ dbSNP | Ensembl ].		VAR_027014
	Natural variant	476	1	V → G. Corresponds to variant rs2072174 [ dbSNP | Ensembl ].		VAR_027015
Experimental info
	Sequence conflict	89	1	Q → H in AAH26190. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 1, 2009. Version 2. Checksum: 1158FF72312AE7DA	FASTA	504	58,513
	10 20 30 40 50 60 MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGKQL CKSVVLSQLE 70 80 90 100 110 120 QVEKLSTQRI SLLQGREVGI KHQEIPFIQH IYQKGTSTIS TMRSHTQEDP FLCNDLGEDF 130 140 150 160 170 180 TQHIALTQNV ITYMRTKHFV SKKFGKIFSD WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS 190 200 210 220 230 240 ALRPHSVTHT REITLECRVC GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK 250 260 270 280 290 300 HERTHTGEKP YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT 310 320 330 340 350 360 HLGDKPYGCL LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL RQHERSHNGE 370 380 390 400 410 420 KPHGCHLCGK AFTESSVLKR HERIHTGEKP YECHVCGKAF TESSDLRRHE RTHTGEKPYE 430 440 450 460 470 480 CHLCGKAFNH SSVLRRHERT HTGEKPYECN ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC 490 500 GKAFSKFFNL RQHERTHTKK AMNM
	Isoform 2 [UniParc]. Checksum: 149F2838E4B41B33	FASTA	434	50,536
	10 20 30 40 50 60 MPSPDSMTFE DIIVDFTQEE WALLDTSQRK LFQDVMLENI SHLVSIGEDF TQHIALTQNV 70 80 90 100 110 120 ITYMRTKHFV SKKFGKIFSD WLSFNQHKEI HTKCKSYGSH LFDYAFIQNS ALRPHSVTHT 130 140 150 160 170 180 REITLECRVC GKTFSKNSNL RRHEMIHTGE KPHGCHLCGK AFTHCSDLRK HERTHTGEKP 190 200 210 220 230 240 YGCHLCGKAF SKSSNLRRHE MIHTREKAQI CHLCGKAFTH CSDLRKHERT HLGDKPYGCL 250 260 270 280 290 300 LCGKAFSKCS YLRQHERTHN GEKPYECHLC GKAFSHCSHL RQHERSHNGE KPHGCHLCGK 310 320 330 340 350 360 AFTESSVLKR HERIHTGEKP YECHVCGKAF TESSDLRRHE RTHTGEKPYE CHLCGKAFNH 370 380 390 400 410 420 SSVLRRHERT HTGEKPYECN ICGKAFNRSY NFRLHRRVHT GEKPYVCPLC GKAFSKFFNL 430 RQHERTHTKK AMNM
	Isoform 3 [UniParc]. Checksum: C762D2408E4F9966	FASTA	139	16,188
	10 20 30 40 50 60 MRSHTQEDPF LCNDLGEDFT QHIALTQNVI TYMRTKHFVS KKFGKIFSDW LSFNQHKEIH 70 80 90 100 110 120 TKCKSYGSHL FDYAFIQNSA LRPHSVTHTR EITLECRVCG KTFSKNSNLR RHEMIHTGEK 130 PHGCHLCGKA FTHLIIVNT

References

[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] (ISOFORMS 1 AND 3). Tissue: Brain and Testis.
[2]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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 1). Tissue: Testis.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK313454 mRNA. Translation: BAG36241.1. Different initiation. AK093442 mRNA. Translation: BAC04166.1. AC004908 Genomic DNA. Translation: AAD05197.1. Sequence problems. BC026190 mRNA. Translation: AAH26190.2.
IPI	IPI00163775. IPI00176317. IPI00873880.
RefSeq	NP_001035880.1. NM_001042415.1. NP_001035881.1. NM_001042416.1. NP_775810.2. NM_173539.2.
UniGene	Hs.591388.
3D structure databases
ProteinModelPortal	Q8TC21.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TC21. 1 interaction.
STRING	9606.ENSP00000310033.
PTM databases
PhosphoSite	Q8TC21.
Polymorphism databases
DMDM	257050982.
Proteomic databases
PaxDb	Q8TC21.
PRIDE	Q8TC21.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308811; ENSP00000310033; ENSG00000172748. ENST00000320552; ENSP00000318719; ENSG00000172748. ENST00000398612; ENSP00000381613; ENSG00000172748.
GeneID	169270.
KEGG	hsa:169270.
UCSC	uc003wot.3. human.
Organism-specific databases
CTD	169270.
GeneCards	GC08P000174.
HGNC	HGNC:27268. ZNF596.
HPA	HPA055463.
neXtProt	NX_Q8TC21.
PharmGKB	PA134901402.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000234617.
HOVERGEN	HBG018163.
InParanoid	Q8TC21.
KO	K09228.
OMA	FTESSDL.
OrthoDB	EOG4H463J.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q8TC21.
Bgee	Q8TC21.
CleanEx	HS_ZNF596.
Genevestigator	Q8TC21.
GermOnline	ENSG00000172748. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 11 hits.
InterPro	IPR001909. Krueppel-associated_box. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF01352. KRAB. 1 hit. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 11 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 11 hits. PS50157. ZINC_FINGER_C2H2_2. 11 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	169270.
NextBio	88795.

Entry information

Entry name

ZN596_HUMAN

Accession

Primary (citable) accession number: Q8TC21
Secondary accession number(s): B2R8P4, O95015, Q8N9X0

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	September 1, 2009
Last modified:	May 1, 2013
This is version 98 of the entry and version 2 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.