Q15915 (ZIC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein ZIC 1

Alternative name(s):
Zinc finger protein 201
Zinc finger protein of the cerebellum 1

Gene names

Name:	ZIC1
Synonyms:	ZIC, ZNF201

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

General annotation (Comments)

Function	Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3 in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' By similarity.
Subunit structure	Interacts (via the C2H2-type domains 3, 4 and 5) with MDFIC (via the C2H2-type domains 3, 4 and 5). Interacts with GLI1; the interaction enhances transcription activation. Interacts with GLI2. Interacts with GLI3; the interaction enhances transcription activation By similarity.
Subcellular location	Nucleus. Cytoplasm By similarity. Note: Localizes in the cytoplasm in presence of MDFIC overexpression By similarity.
Tissue specificity	CNS. A high level expression is seen in the cerebellum. Detected in the nuclei of the cerebellar granule cell lineage from the progenitor cells of the external germinal layer to the postmigrated cells of the internal granular layer. Detected in medulloblastoma (26/29 cases), but not present in all other tumors examined. Ref.1
Domain	The C2H2-type 3, 4 and 5 zinc finger domains are necessary for transcription activation By similarity.
Sequence similarities	Belongs to the GLI C2H2-type zinc-finger protein family. Contains 5 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	behavior Inferred from sequence or structural similarity. Source: UniProtKB brain development Inferred from direct assay Ref.1. Source: UniProtKB cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW inner ear morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB pattern specification process Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of protein import into nucleus Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB regulation of smoothened signaling pathway Inferred from sequence or structural similarity. Source: UniProtKB spinal cord development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Inferred from sequence or structural similarity. Source: UniProtKB 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 – 447	447	Zinc finger protein ZIC 1		PRO_0000047244
Regions
	Zinc finger	225 – 260	36	C2H2-type 1; atypical
	Zinc finger	269 – 296	28	C2H2-type 2; atypical
	Zinc finger	302 – 326	25	C2H2-type 3
	Zinc finger	332 – 356	25	C2H2-type 4
	Zinc finger	362 – 384	23	C2H2-type 5
	Compositional bias	72 – 76	5	Poly-Ala
	Compositional bias	79 – 82	4	Poly-His
	Compositional bias	110 – 116	7	Poly-Ala
	Compositional bias	386 – 440	55	Ser-rich
Experimental info
	Sequence conflict	377	1	L → V in BAA11179. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q15915 [UniParc]. Last modified October 14, 2008. Version 2. Checksum: 4DA3E32C99BF1AAE	FASTA	447	48,309
	10 20 30 40 50 60 MLLDAGPQYP AIGVTTFGAS RHHSAGDVAE RDVGLGINPF ADGMGAFKLN PSSHELASAG 70 80 90 100 110 120 QTAFTSQAPG YAAAAALGHH HHPGHVGSYS SAAFNSTRDF LFRNRGFGDA AAAASAQHSL 130 140 150 160 170 180 FAASAGGFGG PHGHTDAAGH LLFPGLHEQA AGHASPNVVN GQMRLGFSGD MYPRPEQYGQ 190 200 210 220 230 240 VTSPRSEHYA APQLHGYGPM NVNMAAHHGA GAFFRYMRQP IKQELICKWI EPEQLANPKK 250 260 270 280 290 300 SCNKTFSTMH ELVTHVTVEH VGGPEQSNHI CFWEECPREG KPFKAKYKLV NHIRVHTGEK 310 320 330 340 350 360 PFPCPFPGCG KVFARSENLK IHKRTHTGEK PFKCEFEGCD RRFANSSDRK KHMHVHTSDK 370 380 390 400 410 420 PYLCKMCDKS YTHPSSLRKH MKVHESSSQG SQPSPAASSG YESSTPPTIV SPSTDNPTTS 430 440 SLSPSSSAVH HTAGHSALSS NFNEWYV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Predominant expression of human zic in cerebellar granule cell lineage and medulloblastoma." Yokota N., Aruga J., Takai S., Yamada K., Hamazaki M., Iwase T., Sugimura H., Mikoshiba K. Cancer Res. 56:377-383(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Cerebellum.
[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 (SEP-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]. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D76435 mRNA. Translation: BAA11179.1. CH471052 Genomic DNA. Translation: EAW78915.1. BC104848 mRNA. Translation: AAI04849.1. BC104850 mRNA. Translation: AAI04851.1.
IPI	IPI00302870.
RefSeq	NP_003403.2. NM_003412.3.
UniGene	Hs.598590. Hs.647962.
3D structure databases
ProteinModelPortal	Q15915.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000282928.
Polymorphism databases
DMDM	209572702.
Proteomic databases
PaxDb	Q15915.
PRIDE	Q15915.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282928; ENSP00000282928; ENSG00000152977.
GeneID	7545.
KEGG	hsa:7545.
UCSC	uc003ewe.3. human.
Organism-specific databases
CTD	7545.
GeneCards	GC03P147111.
HGNC	HGNC:12872. ZIC1.
HPA	HPA004098.
MIM	600470. gene.
neXtProt	NX_Q15915.
Orphanet	217. Isolated Dandy-Walker malformation.
PharmGKB	PA37461.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000232057.
HOVERGEN	HBG007135.
InParanoid	Q15915.
KO	K09224.
OMA	MNMNMAA.
OrthoDB	EOG4S4PG5.
PhylomeDB	Q15915.
Gene expression databases
Bgee	Q15915.
CleanEx	HS_ZIC1.
Genevestigator	Q15915.
GermOnline	ENSG00000152977. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 4 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF00096. zf-C2H2. 1 hit. [Graphical view]
SMART	SM00355. ZnF_C2H2. 5 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 3 hits. PS50157. ZINC_FINGER_C2H2_2. 4 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7545.
NextBio	29521.
SOURCE	Search...

Entry information

Entry name

ZIC1_HUMAN

Accession

Primary (citable) accession number: Q15915
Secondary accession number(s): Q2M3N1

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	October 14, 2008
Last modified:	May 1, 2013
This is version 117 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.