Q92610 (ZN592_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 592

Gene names

Name:	ZNF592
Synonyms:	KIAA0211

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	1267 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Probable.
Tissue specificity	Widely expressed, with highest levels in skeletal muscle. Expressed throughout the central nervous system, including in the cerebellum and cerebellar vermis, with higher expression in the substantia nigra. Widely expressed in fetal tissues. Ref.9
Involvement in disease	Spinocerebellar ataxia, autosomal recessive, 5 (SCAR5) [MIM:606937]: Spinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR5 patients show developmental delay, psychomotor retardation, proportionate short stature, cerebellar spastic ataxia, microcephaly, optic atrophy, speech defect, abnormal osmiophilic pattern of skin vessels and cerebellar atrophy. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 13 C2H2-type zinc fingers.
Sequence caution	The sequence BAA13202.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Neurodegeneration
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell death Inferred from electronic annotation. Source: UniProtKB-KW 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 – 1267	1267	Zinc finger protein 592		PRO_0000047682
Regions
	Zinc finger	587 – 612	26	C2H2-type 1; atypical
	Zinc finger	615 – 639	25	C2H2-type 2; atypical
	Zinc finger	711 – 731	21	C2H2-type 3; degenerate
	Zinc finger	740 – 764	25	C2H2-type 4
	Zinc finger	768 – 790	23	C2H2-type 5; atypical
	Zinc finger	799 – 822	24	C2H2-type 6
	Zinc finger	827 – 850	24	C2H2-type 7
	Zinc finger	892 – 915	24	C2H2-type 8
	Zinc finger	983 – 1006	24	C2H2-type 9
	Zinc finger	1013 – 1036	24	C2H2-type 10
	Zinc finger	1043 – 1069	27	C2H2-type 11; atypical
	Zinc finger	1124 – 1146	23	C2H2-type 12; atypical
	Zinc finger	1153 – 1176	24	C2H2-type 13
Amino acid modifications
	Modified residue	142	1	Phosphoserine Ref.4
	Modified residue	145	1	Phosphoserine Ref.6
	Modified residue	146	1	Phosphoserine Ref.6
	Modified residue	331	1	Phosphoserine By similarity
	Modified residue	334	1	Phosphoserine By similarity
	Modified residue	573	1	Phosphoserine Ref.6 Ref.7
	Modified residue	691	1	Phosphoserine Ref.6 Ref.7
	Modified residue	1089	1	Phosphoserine Ref.7
	Modified residue	1205	1	Phosphoserine By similarity
	Modified residue	1250	1	Phosphoserine Ref.5
Natural variations
	Natural variant	926	1	S → N. Ref.1 Ref.3 Corresponds to variant rs8182086 [ dbSNP | Ensembl ].		VAR_047033
	Natural variant	1046	1	G → R in SCAR5. Ref.9		VAR_064583

Sequences

	Sequence		Length	Mass (Da)
	Q92610 [UniParc]. Last modified October 14, 2008. Version 2. Checksum: 5BD1CF586BB30E53	FASTA	1,267	137,528
	10 20 30 40 50 60 MGDMKTPDFD DLLAAFDIPD PTSLDAKEAI QTPSEENESP LKPPGICMDE SVSLSHSGSA 70 80 90 100 110 120 PDVPAVSVIV KNTSRQESFE AEKDHITPSL LHNGFRGSDL PPDPHNCGKF DSTFMNGDSA 130 140 150 160 170 180 RSFPGKLEPP KSEPLPTFNQ FSPISSPEPE DPIKDNGFGI KPKHSDSYFP PPLGCGAVGG 190 200 210 220 230 240 PVLEALAKFP VPELHMFDHF CKKEPKPEPL PLGSQQEHEQ SGQNTVEPHK DPDATRFFGE 250 260 270 280 290 300 ALEFNSHPSN SIGESKGLAR ELGTCSSVPP RQRLKPAHSK LSSCVAALVA LQAKRVASVT 310 320 330 340 350 360 KEDQPGHTKD LSGPTKESSK GSPKMPKSPK SPRSPLEATR KSIKPSDSPR SICSDSSSKG 370 380 390 400 410 420 SPSVAASSPP AIPKVRIKTI KTSSGEIKRT VTRILPDPDD PSKSPVGSPL GSAIAEAPSE 430 440 450 460 470 480 MPGDEVPVEE HFPEAGTNSG SPQGARKGDE SMTKASDSSS PSCSSGPRVP KGAAPGSQTG 490 500 510 520 530 540 KKQQSTALQA STLAPANLLP KAVHLANLNL VPHSVAASVT AKSSVQRRSQ PQLTQMSVPL 550 560 570 580 590 600 VHQVKKAAPL IVEVFNKVLH SSNPVPLYAP NLSPPADSRI HVPASGYCCL ECGDAFALEK 610 620 630 640 650 660 SLSQHYGRRS VHIEVLCTLC SKTLLFFNKC SLLRHARDHK SKGLVMQCSQ LLVKPISADQ 670 680 690 700 710 720 MFVSAPVNST APAAPAPSSS PKHGLTSGSA SPPPPALPLY PDPVRLIRYS IKCLECHKQM 730 740 750 760 770 780 RDYMVLAAHF QRTTEETEGL TCQVCQMLLP NQCSFCAHQR IHAHKSPYCC PECGVLCRSA 790 800 810 820 830 840 YFQTHVKENC LHYARKVGYR CIHCGVVHLT LALLKSHIQE RHCQVFHKCA FCPMAFKTAS 850 860 870 880 890 900 STADHSATQH PTQPHRPSQL IYKCSCEMVF NKKRHIQQHF YQNVSKTQVG VFKCPECPLL 910 920 930 940 950 960 FVQKPELMQH VKSTHGVPRN VDELSSLQSS ADTSSSRPGS RVPTEPPATS VAARSSSLPS 970 980 990 1000 1010 1020 GRWGRPEAHR RVEARPRLRN TGWTCQECQE WVPDRESYVS HMKKSHGRTL KRYPCRQCEQ 1030 1040 1050 1060 1070 1080 SFHTPNSLRK HIRNNHDTVK KFYTCGYCTE DSPSFPRPSL LESHISLMHG IRNPDLSQTS 1090 1100 1110 1120 1130 1140 KVKPPGGHSP QVNHLKRPVS GVGDAPGTSN GATVSSTKRH KSLFQCAKCS FATDSGLEFQ 1150 1160 1170 1180 1190 1200 SHIPQHQVDS STAQCLLCGL CYTSASSLSR HLFIVHKVRD QEEEEEEEAA AAEMAVEVAE 1210 1220 1230 1240 1250 1260 PEEGSGEEVP METRENGLEE CAGEPLSADP EARRLLGPAP EDDGGHNDHS QPQASQDQDS HTLSPQV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain." Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N. DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASN-926. Tissue: Bone marrow.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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], VARIANT ASN-926. Tissue: Brain.
[4]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-142, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[5]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1250, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-145; SER-146; SER-573 AND SER-691, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-573; SER-691 AND SER-1089, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]	"CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592." Nicolas E., Poitelon Y., Chouery E., Salem N., Levy N., Megarbane A., Delague V. Eur. J. Hum. Genet. 18:1107-1113(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SCAR5 ARG-1046, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D86966 mRNA. Translation: BAA13202.2. Different initiation. CH471101 Genomic DNA. Translation: EAX01957.1. BC094688 mRNA. Translation: AAH94688.1. BC112232 mRNA. Translation: AAI12233.1. BC112234 mRNA. Translation: AAI12235.1.
IPI	IPI00022460.
RefSeq	NP_055445.2. NM_014630.2.
UniGene	Hs.79347.
3D structure databases
ProteinModelPortal	Q92610.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92610. 4 interactions.
MINT	MINT-1197629.
STRING	9606.ENSP00000299927.
PTM databases
PhosphoSite	Q92610.
Polymorphism databases
DMDM	209572705.
Proteomic databases
PaxDb	Q92610.
PRIDE	Q92610.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000299927; ENSP00000299927; ENSG00000166716. ENST00000560079; ENSP00000452877; ENSG00000166716.
GeneID	9640.
KEGG	hsa:9640.
UCSC	uc002bld.3. human.
Organism-specific databases
CTD	9640.
GeneCards	GC15P085291.
HGNC	HGNC:28986. ZNF592.
HPA	HPA020332. HPA021600.
MIM	606937. phenotype. 613624. gene.
neXtProt	NX_Q92610.
Orphanet	83472. CAMOS syndrome.
PharmGKB	PA134918837.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG270395.
HOGENOM	HOG000010306.
HOVERGEN	HBG062228.
InParanoid	Q92610.
OMA	GLTCQVC.
OrthoDB	EOG4QRH3D.
PhylomeDB	Q92610.
Gene expression databases
ArrayExpress	Q92610.
Bgee	Q92610.
CleanEx	HS_ZNF592.
Genevestigator	Q92610.
GermOnline	ENSG00000166716. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. [Graphical view]
SMART	SM00355. ZnF_C2H2. 13 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 6 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ZNF592. human.
GenomeRNAi	9640.
NextBio	36187.
SOURCE	Search...

Entry information

Entry name

ZN592_HUMAN

Accession

Primary (citable) accession number: Q92610
Secondary accession number(s): Q2M1T2, Q504Y9

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2001
Last sequence update:	October 14, 2008
Last modified:	May 1, 2013
This is version 114 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.