Q6P9A1 (ZN530_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 530

Gene names

Name:	ZNF530
Synonyms:	KIAA1508

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

General annotation (Comments)

Function	May be involved in transcriptional regulation By similarity.
Subcellular location	Nucleus Probable.
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers. Contains 1 KRAB domain.
Sequence caution	The sequence AAC24609.1 differs from that shown. Reason: Erroneous gene model prediction. The sequence BAA96032.1 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	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...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 599	599	Zinc finger protein 530		PRO_0000304997
Regions
	Domain	14 – 94	81	KRAB
	Zinc finger	239 – 261	23	C2H2-type 1
	Zinc finger	267 – 289	23	C2H2-type 2
	Zinc finger	295 – 317	23	C2H2-type 3
	Zinc finger	323 – 345	23	C2H2-type 4
	Zinc finger	351 – 373	23	C2H2-type 5
	Zinc finger	379 – 401	23	C2H2-type 6
	Zinc finger	407 – 429	23	C2H2-type 7
	Zinc finger	435 – 457	23	C2H2-type 8
	Zinc finger	463 – 485	23	C2H2-type 9
	Zinc finger	491 – 513	23	C2H2-type 10
	Zinc finger	519 – 541	23	C2H2-type 11
	Zinc finger	547 – 569	23	C2H2-type 12
	Zinc finger	575 – 597	23	C2H2-type 13
Natural variations
	Natural variant	64	1	T → A. Ref.3 Corresponds to variant rs9677004 [ dbSNP | Ensembl ].		VAR_035144
	Natural variant	110	1	H → Q. Ref.2 Ref.3 Corresponds to variant rs2360543 [ dbSNP | Ensembl ].		VAR_035145
	Natural variant	124	1	S → P. Ref.2 Corresponds to variant rs17855076 [ dbSNP | Ensembl ].		VAR_035146
	Natural variant	169	1	T → M. Corresponds to variant rs11883343 [ dbSNP | Ensembl ].		VAR_035147
	Natural variant	262	1	G → S. Corresponds to variant rs9676259 [ dbSNP | Ensembl ].		VAR_035148

Sequences

	Sequence		Length	Mass (Da)
	Q6P9A1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: 4A1E04810B74CEF2	FASTA	599	68,837
	10 20 30 40 50 60 MAAALRAPTQ QVFVAFEDVA IYFSQEEWEL LDEMQRLLYR DVMLENFAVM ASLGCWCGAV 70 80 90 100 110 120 DEGTPSAESV SVEELSQGRT PKADTSTDKS HPCEICTPVL RDILQMIELH ASPCGQKLYL 130 140 150 160 170 180 GGASRDFWMS SNLHQLQKLD NGEKLFKVDG DQASFMMNCR FHVSGKPFTF GEVGRDFSAT 190 200 210 220 230 240 SGLLQHQVTP TIERPHSRIR HLRVPTGRKP LKYTESRKSF REKSVFIQHQ RADSGERPYK 250 260 270 280 290 300 CSECGKSFSQ SSGFLRHRKA HGRTRTHECS ECGKSFSRKT HLTQHQRVHT GERPYDCSEC 310 320 330 340 350 360 GKSFRQVSVL IQHQRVHTGE RPYECSECGK SFSHSTNLYR HRSAHTSTRP YECSECGKSF 370 380 390 400 410 420 SHSTNLFRHW RVHTGVRPYE CSECGKAFSC NIYLIHHQRF HTGERPYVCS ECGKSFGQKS 430 440 450 460 470 480 VLIQHQRVHT GERPYECSEC GKVFSQSSGL FRHRRAHTKT KPYECSECEK SFSCKTDLIR 490 500 510 520 530 540 HQTVHTGERP YECSVCGKSF IRKTHLIRHQ TVHTNERPYE CDECGKSYSQ SSALLQHRRV 550 560 570 580 590 HTGERPYECR ECGKSFTRKN HLIQHKTVHT GERPYECSEC GKSFSQSSGL LRHRRVHVQ

References

[1]	"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].
[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], VARIANTS GLN-110 AND PRO-124. Tissue: Placenta.
[3]	"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 54-599, VARIANTS ALA-64 AND GLN-110. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC003682 Genomic DNA. Translation: AAC24609.1. Sequence problems. BC060865 mRNA. Translation: AAH60865.1. AB040941 mRNA. Translation: BAA96032.1. Sequence problems.
IPI	IPI00383660.
RefSeq	NP_065931.3. NM_020880.3.
UniGene	Hs.97111.
3D structure databases
HSSP	HSSP built from PDB template 1X6E based on UniProtKB P17028.
ProteinModelPortal	Q6P9A1.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000332861.
PTM databases
PhosphoSite	Q6P9A1.
Polymorphism databases
DMDM	158706493.
Proteomic databases
PaxDb	Q6P9A1.
PRIDE	Q6P9A1.
Protocols and materials databases
DNASU	348327.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000332854; ENSP00000332861; ENSG00000183647. ENST00000600619; ENSP00000472564; ENSG00000183647.
GeneID	348327.
KEGG	hsa:348327.
UCSC	uc002qpk.2. human.
Organism-specific databases
CTD	348327.
GeneCards	GC19P058111.
HGNC	HGNC:29297. ZNF530.
HPA	HPA045868.
neXtProt	NX_Q6P9A1.
PharmGKB	PA134892909.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000234617.
HOVERGEN	HBG018163.
InParanoid	Q6P9A1.
KO	K09228.
OMA	LQKLDNG.
OrthoDB	EOG43JC48.
PhylomeDB	Q6P9A1.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
Bgee	Q6P9A1.
CleanEx	HS_ZNF530.
Genevestigator	Q6P9A1.
Family and domain databases
Gene3D	3.30.160.60. 14 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. PF00096. zf-C2H2. 1 hit. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 13 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 13 hits. PS50157. ZINC_FINGER_C2H2_2. 13 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	348327.
NextBio	99388.

Entry information

Entry name

ZN530_HUMAN

Accession

Primary (citable) accession number: Q6P9A1
Secondary accession number(s): O43340, Q9P220

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	May 1, 2013
This is version 87 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.