Q6ZSB9 (ZBT49_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger and BTB domain-containing protein 49

Alternative name(s):
Zinc finger protein 509

Gene names

Name:	ZBTB49
Synonyms:	ZNF509

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	765 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Potential.
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 BTB (POZ) domain. Contains 7 C2H2-type zinc fingers.
Sequence caution	The sequence AAH16477.1 differs from that shown. Reason: Erroneous termination at position 372. Translated as Glu.

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: Q6ZSB9-1)

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: Q6ZSB9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     419-540: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 765	765	Zinc finger and BTB domain-containing protein 49		PRO_0000047626
Regions
	Domain	25 – 91	67	BTB
	Zinc finger	395 – 417	23	C2H2-type 1
	Zinc finger	423 – 445	23	C2H2-type 2
	Zinc finger	451 – 473	23	C2H2-type 3
	Zinc finger	479 – 501	23	C2H2-type 4
	Zinc finger	507 – 529	23	C2H2-type 5
	Zinc finger	535 – 557	23	C2H2-type 6
	Zinc finger	563 – 585	23	C2H2-type 7
Natural variations
	Alternative sequence	419 – 540	122	Missing in isoform 2.		VSP_016343
	Natural variant	320	1	Y → S. Corresponds to variant rs2920217 [ dbSNP | Ensembl ].		VAR_057422
	Natural variant	348	1	A → T. Corresponds to variant rs4689254 [ dbSNP | Ensembl ].		VAR_057423
	Natural variant	642	1	A → V. Ref.3 Corresponds to variant rs34293093 [ dbSNP | Ensembl ].		VAR_057424
Experimental info
	Sequence conflict	449	1	K → E in BAC87035. Ref.1
	Sequence conflict	506	1	V → I in BAC87035. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 287EC40D48764399	FASTA	765	85,061
	10 20 30 40 50 60 MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ 70 80 90 100 110 120 KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA 130 140 150 160 170 180 TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS 190 200 210 220 230 240 VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP 250 260 270 280 290 300 FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ 310 320 330 340 350 360 MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKASS QSAEEKESEE 370 380 390 400 410 420 VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGE 430 440 450 460 470 480 KPFECNICGK HFSQAGNLQT HLRRHSGEKP YICEICGKRF AASGDVQRHI IIHSGEKPHL 490 500 510 520 530 540 CDICGRGFSN FSNLKEHKKT HTADKVFTCD ECGKSFNMQR KLVKHRIRHT GERPYSCSAC 550 560 570 580 590 600 GKCFGGSGDL RRHVRTHTGE KPYTCEICNK CFTRSAVLRR HKKMHCKAGD ESPDVLEELS 610 620 630 640 650 660 QAIETSDLEK SQSSDSFSQD TSVTLMPVSV KLPVHPVENS VAEFDSHSGG SYCKLRSMIQ 670 680 690 700 710 720 PHGVSDQEKL SLDPGKLAKP QMQQTQPQAY AYSDVDTPAG GEPLQADGMA MIRSSLAALD 730 740 750 760 NHGGDPLGSR ASSTTYRNSE GQFFSSMTLW GLAMKTLQNE NELDQ
	Isoform 2 [UniParc]. Checksum: E79A7A702A0B4CED	FASTA	643	71,222
	10 20 30 40 50 60 MDPVATHSCH LLQQLHEQRI QGLLCDCMLV VKGVCFKAHK NVLAAFSQYF RSLFQNSSSQ 70 80 90 100 110 120 KNDVFHLDVK NVSGIGQILD FMYTSHLDLN QDNIQVMLDT AQCLQVQNVL SLCHTFLKSA 130 140 150 160 170 180 TVVQPPGMPC NSTLSLQSTL TPDATCVISE NYPPHLLQEC SADAQQNKTL DESHPHASPS 190 200 210 220 230 240 VNRHHSAGEI SKQAPDTSDG SCTELPFKQP NYYYKLRNFY SKQYHKHAAG PSQERVVEQP 250 260 270 280 290 300 FAFSTSTDLT TVESQPCAVS HSECILESPE HLPSNFLAQP VNDSAPHPES DATCQQPVKQ 310 320 330 340 350 360 MRLKKAIHLK KLNFLKSQKY AEQVSEPKSD DGLTKRLESA SKNTLEKASS QSAEEKESEE 370 380 390 400 410 420 VVSCENFNCI SETERPEDPA ALEDQSQTLQ SQRQYACELC GKPFKHPSNL ELHKRSHTGK 430 440 450 460 470 480 CFGGSGDLRR HVRTHTGEKP YTCEICNKCF TRSAVLRRHK KMHCKAGDES PDVLEELSQA 490 500 510 520 530 540 IETSDLEKSQ SSDSFSQDTS VTLMPVSVKL PVHPVENSVA EFDSHSGGSY CKLRSMIQPH 550 560 570 580 590 600 GVSDQEKLSL DPGKLAKPQM QQTQPQAYAY SDVDTPAGGE PLQADGMAMI RSSLAALDNH 610 620 630 640 GGDPLGSRAS STTYRNSEGQ FFSSMTLWGL AMKTLQNENE LDQ

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] (ISOFORM 1). Tissue: Tongue.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [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] OF 52-765 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 265-765 (ISOFORM 2), VARIANT VAL-642. Tissue: Lymph and Ovary.
[4]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 504-765. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK127560 mRNA. Translation: BAC87035.1. AC011744 Genomic DNA. No translation available. AC105415 Genomic DNA. No translation available. BC016477 mRNA. Translation: AAH16477.1. Sequence problems. BC089401 mRNA. Translation: AAH89401.1. AB209466 Transcribed RNA. Translation: BAD92703.1.
IPI	IPI00152157. IPI00554487.
RefSeq	NP_660334.3. NM_145291.3.
UniGene	Hs.419997.
3D structure databases
ProteinModelPortal	Q6ZSB9.
SMR	Q6ZSB9. Positions 7-119, 362-585.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6ZSB9. 2 interactions.
PTM databases
PhosphoSite	Q6ZSB9.
Polymorphism databases
DMDM	296453078.
Proteomic databases
PaxDb	Q6ZSB9.
PRIDE	Q6ZSB9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337872; ENSP00000338807; ENSG00000168826. ENST00000355834; ENSP00000348091; ENSG00000168826.
GeneID	166793.
KEGG	hsa:166793.
UCSC	uc003ghu.3. human. uc010icz.3. human.
Organism-specific databases
CTD	166793.
GeneCards	GC04P004291.
HGNC	HGNC:19883. ZBTB49.
HPA	HPA024450.
neXtProt	NX_Q6ZSB9.
PharmGKB	PA165664822.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000140405.
HOVERGEN	HBG061540.
InParanoid	Q6ZSB9.
OMA	MPVSVKL.
OrthoDB	EOG4PC9RT.
PhylomeDB	Q6ZSB9.
Gene expression databases
ArrayExpress	Q6ZSB9.
Bgee	Q6ZSB9.
CleanEx	HS_ZNF509.
Genevestigator	Q6ZSB9.
GermOnline	ENSG00000168826. Homo sapiens.
Family and domain databases
Gene3D	2.30.30.20. 1 hit. 3.30.160.60. 7 hits. 3.30.710.10. 1 hit.
InterPro	IPR020542. Asp_carbamoyltrfase_reg_C. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00651. BTB. 1 hit. [Graphical view]
SMART	SM00225. BTB. 1 hit. SM00355. ZnF_C2H2. 7 hits. [Graphical view]
SUPFAM	SSF54695. BTB/POZ_fold. 1 hit.
PROSITE	PS50097. BTB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 7 hits. PS50157. ZINC_FINGER_C2H2_2. 7 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	166793.
NextBio	88623.

Entry information

Entry name

ZBT49_HUMAN

Accession

Primary (citable) accession number: Q6ZSB9
Secondary accession number(s): Q59FJ4, Q5EBN0, Q8TB80

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 22, 2005
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 97 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.