Q8TF68 (ZN384_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 384

Alternative name(s):
CAG repeat protein 1
CAS-interacting zinc finger protein
Nuclear matrix transcription factor 4
Short name=Nuclear matrix protein 4
Trinucleotide repeat-containing gene 1 protein

Gene names

Name:	ZNF384
Synonyms:	CAGH1, CIZ, NMP4, TNRC1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	577 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor that binds the consensus DNA sequence [GC]AAAAA. Seems to bind and regulate the promoters of MMP1, MMP3, MMP7 and COL1A1 By similarity.
Subunit structure	Interacts with BCAR1 By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 8 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
PTM	Phosphoprotein
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 direct assay. Source: HPA
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]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q8TF68-1)

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: Q8TF68-2)

The sequence of this isoform differs from the canonical sequence as follows:
     300-360: Missing.

Isoform 3 (identifier: Q8TF68-3)

The sequence of this isoform differs from the canonical sequence as follows:
     102-156: Missing.
     293-353: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 577	577	Zinc finger protein 384		PRO_0000047552
Regions
	Zinc finger	228 – 250	23	C2H2-type 1
	Zinc finger	256 – 278	23	C2H2-type 2
	Zinc finger	284 – 306	23	C2H2-type 3
	Zinc finger	317 – 339	23	C2H2-type 4
	Zinc finger	345 – 367	23	C2H2-type 5
	Zinc finger	373 – 397	25	C2H2-type 6
	Zinc finger	403 – 425	23	C2H2-type 7
	Zinc finger	433 – 455	23	C2H2-type 8
	Compositional bias	461 – 521	61	Gln-rich
	Compositional bias	466 – 499	34	Ala-rich
Amino acid modifications
	Modified residue	214	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	102 – 156	55	Missing in isoform 3.		VSP_040314
	Alternative sequence	293 – 353	61	Missing in isoform 3.		VSP_040315
	Alternative sequence	300 – 360	61	Missing in isoform 2.		VSP_006920
Experimental info
	Sequence conflict	501	1	Missing in BAB85125. Ref.1
	Sequence conflict	501	1	Missing in BAC04618. Ref.2
	Sequence conflict	501	1	Missing in EAW88756. Ref.4
	Sequence conflict	501	1	Missing in AAH53361. Ref.5
	Sequence conflict	501	1	Missing in AAB91437. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 5899CAB02DBBE0CB	FASTA	577	63,219
	10 20 30 40 50 60 MEESHFNSNP YFWPSIPTVS GQIENTMFIN KMKDQLLPEK GCGLAPPHYP TLLTVPASVS 70 80 90 100 110 120 LPSGISMDTE SKSDQLTPHS QASVTQNITV VPVPSTGLMT AGVSCSQRWR REGSQSRGPG 130 140 150 160 170 180 LVITSPSGSL VTTASSAQTF PISAPMIVSA LPPGSQALQV VPDLSKKVAS TLTEEGGGGG 190 200 210 220 230 240 GGGGSVAPKP PRGRKKKRML ESGLPEMNDP YVLSPEDDDD HQKDGKTYRC RMCSLTFYSK 250 260 270 280 290 300 SEMQIHSKSH TETKPHKCPH CSKTFANSSY LAQHIRIHSG AKPYSCNFCE KSFRQLSHLQ 310 320 330 340 350 360 QHTRIHSKMH TETIKPHKCP HCSKTFANTS YLAQHLRIHS GAKPYNCSYC QKAFRQLSHL 370 380 390 400 410 420 QQHTRIHTGD RPYKCAHPGC EKAFTQLSNL QSHRRQHNKD KPFKCHNCHR AYTDAASLEV 430 440 450 460 470 480 HLSTHTVKHA KVYTCTICSR AYTSETYLMK HMRKHNPPDL QQQVQAAAAA AAVAQAQAQA 490 500 510 520 530 540 QAQAQAQAQA QAQAQASQAS QQQQQQQQQQ QQQQQQPPPH FQSPGAAPQG GGGGDSNPNP 550 560 570 PPQCSFDLTP YKTAEHHKDI CLTVTTSTIQ VEHLASS
	Isoform 2 [UniParc]. Checksum: F42612264741B6DD	FASTA	516	56,106
	10 20 30 40 50 60 MEESHFNSNP YFWPSIPTVS GQIENTMFIN KMKDQLLPEK GCGLAPPHYP TLLTVPASVS 70 80 90 100 110 120 LPSGISMDTE SKSDQLTPHS QASVTQNITV VPVPSTGLMT AGVSCSQRWR REGSQSRGPG 130 140 150 160 170 180 LVITSPSGSL VTTASSAQTF PISAPMIVSA LPPGSQALQV VPDLSKKVAS TLTEEGGGGG 190 200 210 220 230 240 GGGGSVAPKP PRGRKKKRML ESGLPEMNDP YVLSPEDDDD HQKDGKTYRC RMCSLTFYSK 250 260 270 280 290 300 SEMQIHSKSH TETKPHKCPH CSKTFANSSY LAQHIRIHSG AKPYSCNFCE KSFRQLSHLQ 310 320 330 340 350 360 QHTRIHTGDR PYKCAHPGCE KAFTQLSNLQ SHRRQHNKDK PFKCHNCHRA YTDAASLEVH 370 380 390 400 410 420 LSTHTVKHAK VYTCTICSRA YTSETYLMKH MRKHNPPDLQ QQVQAAAAAA AVAQAQAQAQ 430 440 450 460 470 480 AQAQAQAQAQ AQAQASQASQ QQQQQQQQQQ QQQQQPPPHF QSPGAAPQGG GGGDSNPNPP 490 500 510 PQCSFDLTPY KTAEHHKDIC LTVTTSTIQV EHLASS
	Isoform 3 [UniParc]. Checksum: 01DFDE11A18418D7	FASTA	461	50,538
	10 20 30 40 50 60 MEESHFNSNP YFWPSIPTVS GQIENTMFIN KMKDQLLPEK GCGLAPPHYP TLLTVPASVS 70 80 90 100 110 120 LPSGISMDTE SKSDQLTPHS QASVTQNITV VPVPSTGLMT AALQVVPDLS KKVASTLTEE 130 140 150 160 170 180 GGGGGGGGGS VAPKPPRGRK KKRMLESGLP EMNDPYVLSP EDDDDHQKDG KTYRCRMCSL 190 200 210 220 230 240 TFYSKSEMQI HSKSHTETKP HKCPHCSKTF ANSSYLAQHI RIHSGAKPYS CNFCEKSFRQ 250 260 270 280 290 300 LSHLQQHTRI HTGDRPYKCA HPGCEKAFTQ LSNLQSHRRQ HNKDKPFKCH NCHRAYTDAA 310 320 330 340 350 360 SLEVHLSTHT VKHAKVYTCT ICSRAYTSET YLMKHMRKHN PPDLQQQVQA AAAAAAVAQA 370 380 390 400 410 420 QAQAQAQAQA QAQAQAQAQA SQASQQQQQQ QQQQQQQQQQ PPPHFQSPGA APQGGGGGDS 430 440 450 460 NPNPPPQCSF DLTPYKTAEH HKDICLTVTT STIQVEHLAS S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	Matsuo M.Y. Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[2]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[3]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., 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., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed: 16541075] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis.
[6]	"cDNAs with long CAG trinucleotide repeats from human brain." Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S., Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A. Hum. Genet. 100:114-122(1997) [PubMed: 9225980] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 395-577 (ISOFORMS 1/2/3). Tissue: Brain cortex.
[7]	"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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-214, MASS SPECTROMETRY. Tissue: Cervix carcinoma.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB070238 Genomic DNA. Translation: BAB85125.1. AK095734 mRNA. Translation: BAC04618.1. AC125494 Genomic DNA. No translation available. CH471116 Genomic DNA. Translation: EAW88756.1. BC053361 mRNA. Translation: AAH53361.1. U80738 mRNA. Translation: AAB91437.1.
IPI	IPI00152875. IPI00220697. IPI00385446.
RefSeq	NP_001035009.1. NM_001039920.2. NP_001129206.1. NM_001135734.2. NP_597733.2. NM_133476.4.
UniGene	Hs.103315. Hs.708126. Hs.714839.
3D structure databases
HSSP	HSSP built from PDB template 1G2D based on UniProtKB P08046.
ProteinModelPortal	Q8TF68.
SMR	Q8TF68. Positions 223-466.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8TF68.
PTM databases
PhosphoSite	Q8TF68.
Polymorphism databases
DMDM	296453052.
Proteomic databases
PRIDE	Q8TF68.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355772; ENSP00000348018; ENSG00000126746. ENST00000396801; ENSP00000380019; ENSG00000126746.
GeneID	171017.
KEGG	hsa:171017.
UCSC	uc001qpz.1. human.
Organism-specific databases
CTD	171017.
GeneCards	GC12M006775.
HGNC	HGNC:11955. ZNF384.
HPA	HPA004051.
MIM	609951. gene.
neXtProt	NX_Q8TF68.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG16267.
GeneTree	ENSGT00530000063752.
HOGENOM	HBG716110.
HOVERGEN	HBG058173.
InParanoid	Q8TF68.
OMA	GGNVAPK.
OrthoDB	EOG42FSHG.
PhylomeDB	Q8TF68.
Gene expression databases
ArrayExpress	Q8TF68.
Bgee	Q8TF68.
CleanEx	HS_ZNF384.
Genevestigator	Q8TF68.
GermOnline	ENSG00000126746. Homo sapiens.
Family and domain databases
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Gene3D	G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 8 hits.
Pfam	PF00096. zf-C2H2. 7 hits. [Graphical view]
SMART	SM00355. ZnF_C2H2. 8 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 8 hits. PS50157. ZINC_FINGER_C2H2_2. 8 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	89172.
SOURCE	Search...

Entry information

Entry name

ZN384_HUMAN

Accession

Primary (citable) accession number: Q8TF68
Secondary accession number(s): O15407, Q7Z722, Q8N938

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 28, 2003
Last sequence update:	May 18, 2010
Last modified:	January 25, 2012
This is version 90 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.