P62633 (CNBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cellular nucleic acid-binding protein
Short name=CNBP

Alternative name(s):
Zinc finger protein 9

Gene names

Name:	CNBP
Synonyms:	RNF163, ZNF9

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

General annotation (Comments)

Function	Single stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.
Subcellular location	Cytoplasm By similarity. Endoplasmic reticulum By similarity.
Tissue specificity	Present in all tissues examined.
Involvement in disease	Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. Note: The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene. Ref.3
Sequence similarities	Contains 7 CCHC-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Cytoplasm Endoplasmic reticulum
Coding sequence diversity	Alternative splicing
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cholesterol biosynthetic process Traceable author statement Ref.1. Source: ProtInc positive regulation of cell proliferation Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription from RNA polymerase II promoter Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytosol Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum Inferred from sequence or structural similarity. Source: UniProtKB nucleus Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P62633-1)

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: P62633-2)

The sequence of this isoform differs from the canonical sequence as follows:
     36-42: Missing.

Isoform 3 (identifier: P62633-3)

The sequence of this isoform differs from the canonical sequence as follows:
     42-51: Missing.

Isoform 4 (identifier: P62633-4)

The sequence of this isoform differs from the canonical sequence as follows:
     72-72: D → DE

Isoform 5 (identifier: P62633-5)

The sequence of this isoform differs from the canonical sequence as follows:
     36-42: Missing.
     72-72: D → DVE

Note: No experimental confirmation available.

Isoform 6 (identifier: P62633-6)

The sequence of this isoform differs from the canonical sequence as follows:
     72-72: D → DVE

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 177	177	Cellular nucleic acid-binding protein		PRO_0000089965
Regions
	Zinc finger	4 – 21	18	CCHC-type 1
	Zinc finger	52 – 69	18	CCHC-type 2
	Zinc finger	72 – 89	18	CCHC-type 3
	Zinc finger	96 – 113	18	CCHC-type 4
	Zinc finger	117 – 134	18	CCHC-type 5
	Zinc finger	135 – 152	18	CCHC-type 6
	Zinc finger	156 – 173	18	CCHC-type 7
Natural variations
	Alternative sequence	36 – 42	7	Missing in isoform 2 and isoform 5.		VSP_010981
	Alternative sequence	42 – 51	10	Missing in isoform 3.		VSP_010982
	Alternative sequence	72	1	D → DE in isoform 4.		VSP_043304
	Alternative sequence	72	1	D → DVE in isoform 5 and isoform 6.		VSP_043424
Experimental info
	Sequence conflict	6	1	C → R in BAF84808. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2004. Version 1. Checksum: 996F398285F52618	FASTA	177	19,463
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGGFTSD RGFQFVSSSL PDICYRCGES 70 80 90 100 110 120 GHLAKDCDLQ EDACYNCGRG GHIAKDCKEP KREREQCCYN CGKPGHLARD CDHADEQKCY 130 140 150 160 170 SCGEFGHIQK DCTKVKCYRC GETGHVAINC SKTSEVNCYR CGESGHLARE CTIEATA
	Isoform 2 [UniParc]. Checksum: 152BEC42881358E8	FASTA	170	18,742
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGFQFVS SSLPDICYRC GESGHLAKDC 70 80 90 100 110 120 DLQEDACYNC GRGGHIAKDC KEPKREREQC CYNCGKPGHL ARDCDHADEQ KCYSCGEFGH 130 140 150 160 170 IQKDCTKVKC YRCGETGHVA INCSKTSEVN CYRCGESGHL ARECTIEATA
	Isoform 3 [UniParc]. Checksum: D59B4E42A6477FF2	FASTA	167	18,413
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGGFTSD RDICYRCGES GHLAKDCDLQ 70 80 90 100 110 120 EDACYNCGRG GHIAKDCKEP KREREQCCYN CGKPGHLARD CDHADEQKCY SCGEFGHIQK 130 140 150 160 DCTKVKCYRC GETGHVAINC SKTSEVNCYR CGESGHLARE CTIEATA
	Isoform 4 [UniParc]. Checksum: DF0CDAB9BF3D96BB	FASTA	178	19,592
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGGFTSD RGFQFVSSSL PDICYRCGES 70 80 90 100 110 120 GHLAKDCDLQ EDEACYNCGR GGHIAKDCKE PKREREQCCY NCGKPGHLAR DCDHADEQKC 130 140 150 160 170 YSCGEFGHIQ KDCTKVKCYR CGETGHVAIN CSKTSEVNCY RCGESGHLAR ECTIEATA
	Isoform 5 [UniParc]. Checksum: E2C0B3EF2820CD94	FASTA	172	18,970
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGFQFVS SSLPDICYRC GESGHLAKDC 70 80 90 100 110 120 DLQEDVEACY NCGRGGHIAK DCKEPKRERE QCCYNCGKPG HLARDCDHAD EQKCYSCGEF 130 140 150 160 170 GHIQKDCTKV KCYRCGETGH VAINCSKTSE VNCYRCGESG HLARECTIEA TA
	Isoform 6 [UniParc]. Checksum: AB793FABFDE0C072	FASTA	179	19,691
	10 20 30 40 50 60 MSSNECFKCG RSGHWARECP TGGGRGRGMR SRGRGGFTSD RGFQFVSSSL PDICYRCGES 70 80 90 100 110 120 GHLAKDCDLQ EDVEACYNCG RGGHIAKDCK EPKREREQCC YNCGKPGHLA RDCDHADEQK 130 140 150 160 170 CYSCGEFGHI QKDCTKVKCY RCGETGHVAI NCSKTSEVNC YRCGESGHLA RECTIEATA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a zinc finger protein that binds to the sterol regulatory element." Rajavashisth T.B., Taylor A.K., Andalibi A., Svenson K.L., Lusis A.J. Science 245:640-643(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Organization of the gene encoding cellular nucleic acid-binding protein." Flink I.L., Morkin E. Gene 163:279-282(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Placenta.
[3]	"Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9." Liquori C.L., Ricker K., Moseley M.L., Jacobsen J.F., Kress W., Naylor S.L., Day J.W., Ranum L.P. Science 293:864-867(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], DISEASE.
[4]	"Cloning of novel transcript variants of human cellular nucleic acid binding protein." Yang F., Yan H., Zhang S. Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5).
[5]	"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; 3 AND 6). Tissue: Placenta and Synovium.
[6]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
[7]	"The DNA sequence, annotation and analysis of human chromosome 3." Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A. Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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] (ISOFORMS 1 AND 2). Tissue: Brain, Lung and Uterus.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M28372 mRNA. Translation: AAA61975.1. U19765 Genomic DNA. Translation: AAA91782.1. AY329622 Genomic DNA. Translation: AAR89462.1. DQ092367 mRNA. Translation: AAY96755.1. DQ091187 mRNA. Translation: AAY89856.1. AK054592 mRNA. Translation: BAB70769.1. AK292119 mRNA. Translation: BAF84808.1. AK314380 mRNA. Translation: BAG37006.1. BT019613 mRNA. Translation: AAV38419.1. AC108673 Genomic DNA. No translation available. AC135587 Genomic DNA. No translation available. CH471052 Genomic DNA. Translation: EAW79271.1. CH471052 Genomic DNA. Translation: EAW79272.1. CH471052 Genomic DNA. Translation: EAW79273.1. CH471052 Genomic DNA. Translation: EAW79274.1. CH471052 Genomic DNA. Translation: EAW79275.1. CH471052 Genomic DNA. Translation: EAW79277.1. BC000288 mRNA. Translation: AAH00288.1. BC014911 mRNA. Translation: AAH14911.1. BC093058 mRNA. Translation: AAH93058.1.
IPI	IPI00430812. IPI00430813. IPI00430814. IPI00895806. IPI00895911. IPI00967344.
PIR	A32760.
RefSeq	NP_001120664.1. NM_001127192.1. NP_001120665.1. NM_001127193.1. NP_001120666.1. NM_001127194.1. NP_001120668.1. NM_001127196.1. NP_003409.1. NM_003418.4.
UniGene	Hs.518249.
3D structure databases
ProteinModelPortal	P62633.
ModBase	Search...
Protein-protein interaction databases
IntAct	P62633. 4 interactions.
STRING	9606.ENSP00000303844.
PTM databases
PhosphoSite	P62633.
Polymorphism databases
DMDM	50401852.
Proteomic databases
PaxDb	P62633.
PRIDE	P62633.
Protocols and materials databases
DNASU	7555.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000422453; ENSP00000410619; ENSG00000169714. ENST00000441626; ENSP00000410769; ENSG00000169714. ENST00000446936; ENSP00000400444; ENSG00000169714. ENST00000451728; ENSP00000399488; ENSG00000169714. ENST00000502976; ENSP00000421323; ENSG00000169714. ENST00000504813; ENSP00000422110; ENSG00000169714.
GeneID	7555.
KEGG	hsa:7555.
UCSC	uc003elq.4. human. uc003elr.4. human.
Organism-specific databases
CTD	7555.
GeneCards	GC03M128886.
HGNC	HGNC:13164. CNBP.
MIM	116955. gene. 602668. phenotype.
neXtProt	NX_P62633.
Orphanet	606. Proximal myotonic myopathy.
PharmGKB	PA37737.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5082.
HOGENOM	HOG000186262.
HOVERGEN	HBG000397.
InParanoid	P62633.
KO	K09250.
OrthoDB	EOG45HRZN.
PhylomeDB	P62633.
Gene expression databases
ArrayExpress	P62633.
Bgee	P62633.
CleanEx	HS_CNBP.
Genevestigator	P62633.
GermOnline	ENSG00000169714. Homo sapiens.
Family and domain databases
Gene3D	4.10.60.10. 4 hits.
InterPro	IPR001878. Znf_CCHC. [Graphical view]
Pfam	PF00098. zf-CCHC. 7 hits. [Graphical view]
SMART	SM00343. ZnF_C2HC. 7 hits. [Graphical view]
SUPFAM	SSF57756. SSF57756. 3 hits.
PROSITE	PS50158. ZF_CCHC. 7 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CNBP. human.
GenomeRNAi	7555.
NextBio	29559.
SOURCE	Search...

Entry information

Entry name

CNBP_HUMAN

Accession

Primary (citable) accession number: P62633
Secondary accession number(s): A8K7V4 , B2RAV9, D3DNB9, D3DNC0, D3DNC1, E9PDR7, P20694, Q4JGY0, Q5QJR0, Q5U0E9, Q6PJI7, Q96NV3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	July 19, 2004
Last modified:	May 1, 2013
This is version 95 of the entry and version 1 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.