P17039 (ZNF30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 30

Alternative name(s):
Zinc finger protein KOX28

Gene names

Name:	ZNF30
Synonyms:	KOX28

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	623 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 18 C2H2-type zinc fingers. Contains 1 KRAB domain.

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: P17039-1)

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: P17039-2)

The sequence of this isoform differs from the canonical sequence as follows:
     53-53: M → MA

Isoform 3 (identifier: P17039-3)

The sequence of this isoform differs from the canonical sequence as follows:
     86-86: D → G
     87-623: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 623	623	Zinc finger protein 30		PRO_0000047359
Regions
	Domain	14 – 85	72	KRAB
	Zinc finger	120 – 142	23	C2H2-type 1; degenerate
	Zinc finger	148 – 170	23	C2H2-type 2
	Zinc finger	176 – 198	23	C2H2-type 3; degenerate
	Zinc finger	204 – 226	23	C2H2-type 4
	Zinc finger	232 – 254	23	C2H2-type 5
	Zinc finger	260 – 282	23	C2H2-type 6
	Zinc finger	288 – 310	23	C2H2-type 7
	Zinc finger	316 – 338	23	C2H2-type 8
	Zinc finger	344 – 366	23	C2H2-type 9
	Zinc finger	372 – 394	23	C2H2-type 10
	Zinc finger	400 – 422	23	C2H2-type 11
	Zinc finger	428 – 450	23	C2H2-type 12
	Zinc finger	456 – 478	23	C2H2-type 13
	Zinc finger	484 – 506	23	C2H2-type 14
	Zinc finger	512 – 534	23	C2H2-type 15
	Zinc finger	540 – 562	23	C2H2-type 16
	Zinc finger	568 – 590	23	C2H2-type 17
	Zinc finger	596 – 618	23	C2H2-type 18
Natural variations
	Alternative sequence	53	1	M → MA in isoform 2.		VSP_040942
	Alternative sequence	86	1	D → G in isoform 3.		VSP_040943
	Alternative sequence	87 – 623	537	Missing in isoform 3.		VSP_040944
	Natural variant	123	1	Q → R. Ref.1 Ref.2 Ref.3 Corresponds to variant rs1811 [ dbSNP | Ensembl ].		VAR_047736
	Natural variant	190	1	A → T. Corresponds to variant rs8100497 [ dbSNP | Ensembl ].		VAR_047737
	Natural variant	379	1	R → K. Ref.1 Ref.2 Corresponds to variant rs1345658 [ dbSNP | Ensembl ].		VAR_047738
	Natural variant	400	1	Y → C. Ref.1 Corresponds to variant rs765746 [ dbSNP | Ensembl ].		VAR_047739
Experimental info
	Sequence conflict	14	1	V → M in BAG58432. Ref.1
	Sequence conflict	24	1	S → F in BAG58432. Ref.1
	Sequence conflict	193	1	K → R in CAE45802. Ref.2
	Sequence conflict	238	1	G → W in CAE45802. Ref.2
	Sequence conflict	304	1	A → V in CAE45802. Ref.2
	Sequence conflict	492	1	T → A in AAI42997. Ref.4
	Sequence conflict	493	1	F → L in CAE45802. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 3, 2011. Version 5. Checksum: 50F63EFB2027C717	FASTA	623	71,417
	10 20 30 40 50 60 MAHKYVGLQY HGSVTFEDVA IAFSQQEWES LDSSQRGLYR DVMLENYRNL VSMGHSRSKP 70 80 90 100 110 120 HVIALLEQWK EPEVTVRKDG RRWCTDLQLE DDTIGCKEMP TSENCPSFAL HQKISRQKPR 130 140 150 160 170 180 ECQEYGKTLC QDSKPVQHER IHSSEKPNRC KECGKNFSNG HQLTIHQRLH VGEKPYKYEK 190 200 210 220 230 240 CGKAFISGSA FVKHGRIHTG EKPLKCKQCG KTISGSYQLT VHKSIHTGKK PYECGECGKA 250 260 270 280 290 300 FLVYGKLTRH QSTHTGEKPF GCEECGKAFS TFSYLVQHQR IHTSEKPYEC KECGKAFSTS 310 320 330 340 350 360 SPLAKHQRIH TGEKPYECKE CGKSFTVYGQ LTRHQSIHTG EKPFECKECG KAFRLSSFLH 370 380 390 400 410 420 AHQRIHAEIK PYGCKECGRT FSRASYLVQH GRLHTGEKPY ECKECGKAFS TGSYLVQHQR 430 440 450 460 470 480 IHTGEKPYEC KECGKAFISR HQLTVHQRVH TGEKPYECKE CGKAFRVHVH LTQHRKIHTD 490 500 510 520 530 540 VKPYECKECG KTFSRASYLV QHSRIHTGKK PYECKECGKA FSSGSYLVQH QRIHTGEKPY 550 560 570 580 590 600 ECNKCGKAFT VYGQLIGHQS VHTGEKPFEC KECGKAFRLN SFLTEHQRVH TGEKPFKCKK 610 620 CGKTFRYSSA LKVHLRKHMS VIP
	Isoform 2 [UniParc]. Checksum: 2B02E220567934F5	FASTA	624	71,489
	10 20 30 40 50 60 MAHKYVGLQY HGSVTFEDVA IAFSQQEWES LDSSQRGLYR DVMLENYRNL VSMAGHSRSK 70 80 90 100 110 120 PHVIALLEQW KEPEVTVRKD GRRWCTDLQL EDDTIGCKEM PTSENCPSFA LHQKISRQKP 130 140 150 160 170 180 RECQEYGKTL CQDSKPVQHE RIHSSEKPNR CKECGKNFSN GHQLTIHQRL HVGEKPYKYE 190 200 210 220 230 240 KCGKAFISGS AFVKHGRIHT GEKPLKCKQC GKTISGSYQL TVHKSIHTGK KPYECGECGK 250 260 270 280 290 300 AFLVYGKLTR HQSTHTGEKP FGCEECGKAF STFSYLVQHQ RIHTSEKPYE CKECGKAFST 310 320 330 340 350 360 SSPLAKHQRI HTGEKPYECK ECGKSFTVYG QLTRHQSIHT GEKPFECKEC GKAFRLSSFL 370 380 390 400 410 420 HAHQRIHAEI KPYGCKECGR TFSRASYLVQ HGRLHTGEKP YECKECGKAF STGSYLVQHQ 430 440 450 460 470 480 RIHTGEKPYE CKECGKAFIS RHQLTVHQRV HTGEKPYECK ECGKAFRVHV HLTQHRKIHT 490 500 510 520 530 540 DVKPYECKEC GKTFSRASYL VQHSRIHTGK KPYECKECGK AFSSGSYLVQ HQRIHTGEKP 550 560 570 580 590 600 YECNKCGKAF TVYGQLIGHQ SVHTGEKPFE CKECGKAFRL NSFLTEHQRV HTGEKPFKCK 610 620 KCGKTFRYSS ALKVHLRKHM SVIP
	Isoform 3 [UniParc]. Checksum: D2FB1AA24ACFDC1D	FASTA	86	10,040
	10 20 30 40 50 60 MAHKYVGLQY HGSVTFEDVA IAFSQQEWES LDSSQRGLYR DVMLENYRNL VSMGHSRSKP 70 80 HVIALLEQWK EPEVTVRKDG RRWCTG

References

	« Hide 'large scale' referencesShow 'large scale' 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 2 AND 3), VARIANTS ARG-123; LYS-379 AND CYS-400.
[2]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ARG-123 AND LYS-379. Tissue: Uterine endothelium.
[3]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-123.
[4]	"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).
[5]	"Multiple genes encoding zinc finger domains are expressed in human T cells." Thiesen H.-J. New Biol. 2:363-374(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 484-623. Tissue: Lymphoid tissue.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK295515 mRNA. Translation: BAG58432.1. AK290435 mRNA. Translation: BAF83124.1. BX640666 mRNA. Translation: CAE45802.1. AC008555 Genomic DNA. No translation available. BC142996 mRNA. Translation: AAI42997.1. X52359 mRNA. Translation: CAA36585.1.
IPI	IPI00031473. IPI00795740. IPI01009245.
PIR	I37968.
RefSeq	NP_001092907.1. NM_001099437.1. NP_001092908.1. NM_001099438.1. NP_919306.2. NM_194325.2.
UniGene	Hs.657402.
3D structure databases
ProteinModelPortal	P17039.
SMR	P17039. Positions 14-62, 145-618.
ModBase	Search...
PTM databases
PhosphoSite	P17039.
Polymorphism databases
DMDM	215274196.
Proteomic databases
PaxDb	P17039.
PRIDE	P17039.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303586; ENSP00000303889; ENSG00000168661. ENST00000426813; ENSP00000416457; ENSG00000168661. ENST00000439785; ENSP00000403441; ENSG00000168661. ENST00000601142; ENSP00000469954; ENSG00000168661. ENST00000601957; ENSP00000470094; ENSG00000168661.
GeneID	90075.
KEGG	hsa:90075.
UCSC	uc002nxf.2. human. uc010edq.1. human.
Organism-specific databases
CTD	90075.
GeneCards	GC19P035417.
HGNC	HGNC:13090. ZNF30.
HPA	HPA030400.
neXtProt	NX_P17039.
PharmGKB	PA37665.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000234617.
HOVERGEN	HBG018163.
InParanoid	P17039.
KO	K09228.
OMA	FVKHGRI.
OrthoDB	EOG4D52X5.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
Bgee	P17039.
CleanEx	HS_ZNF30.
Genevestigator	P17039.
GermOnline	ENSG00000168661. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 18 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. 17 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 16 hits. PS50157. ZINC_FINGER_C2H2_2. 18 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	90075.
NextBio	76509.

Entry information

Entry name

ZNF30_HUMAN

Accession

Primary (citable) accession number: P17039
Secondary accession number(s): A5PLP1 , A8K320, B4DIC0, Q6N068

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1990
Last sequence update:	May 3, 2011
Last modified:	May 1, 2013
This is version 126 of the entry and version 5 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.