P10074 (ZBT48_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger and BTB domain-containing protein 48

Alternative name(s):
Krueppel-related zinc finger protein 3
Protein HKR3
Zinc finger protein 855

Gene names

Name:	ZBTB48
Synonyms:	HKR3, ZNF855

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

General annotation (Comments)

Function	Binds to and regulates the J and/or S elements in MHC II promoter. Ref.1
Subcellular location	Nucleus.
Tissue specificity	Detected in adrenal gland and neuroblastoma. Ref.2
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 1 BTB (POZ) domain. Contains 11 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc 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 – 688

688

Zinc finger and BTB domain-containing protein 48

PRO_0000047272

Regions

Domain

26 – 89

64

BTB

Zinc finger

291 – 313

23

C2H2-type 1

Zinc finger

319 – 341

23

C2H2-type 2; degenerate

Zinc finger

350 – 372

23

C2H2-type 3

Zinc finger

378 – 401

24

C2H2-type 4

Zinc finger

407 – 430

24

C2H2-type 5

Zinc finger

436 – 459

24

C2H2-type 6

Zinc finger

465 – 487

23

C2H2-type 7

Zinc finger

493 – 515

23

C2H2-type 8

Zinc finger

521 – 544

24

C2H2-type 9

Zinc finger

550 – 572

23

C2H2-type 10

Zinc finger

578 – 600

23

C2H2-type 11

Natural variations

Natural variant

675

1

S → A.
Corresponds to variant rs2229330 [ dbSNP | Ensembl ].

VAR_052925

Experimental info

Sequence conflict

201

1

P → S in AAA65124. Ref.1

Sequence conflict

244

1

D → S in AAA65124. Ref.1

Sequence conflict

350 – 351

2

FT → LP in AAA65124. Ref.1

Sequence conflict

607

1

N → K in AAA65124. Ref.1

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

688

Helix Strand Turn

Details...

Helix

5 – 21

17

Beta strand

28 – 31

4

Beta strand

36 – 39

4

Helix

41 – 47

7

Helix

49 – 54

6

Turn

70 – 72

3

Helix

76 – 81

6

Helix

92 – 101

10

Helix

105 – 113

9

Sequences

	Sequence		Length	Mass (Da)
	P10074 [UniParc]. Last modified October 1, 1996. Version 2. Checksum: EBECCE3D6CBBD524	FASTA	688	77,054
	10 20 30 40 50 60 MDGSFVQHSV RVLQELNKQR EKGQYCDATL DVGGLVFKAH WSVLACCSHF FQSLYGDGSG 70 80 90 100 110 120 GSVVLPAGFA EIFGLLLDFF YTGHLALTSG NRDQVLLAAR ELRVPEAVEL CQSFKPKTSV 130 140 150 160 170 180 GQAAGGQSGL GPPASQNVNS HVKEPAGLEE EEVSRTLGLV PRDQEPRGSH SPQRPQLHSP 190 200 210 220 230 240 AQSEGPSSLC GKLKQALKPC PLEDKKPEDC KVPPRPLEAE GAQLQGGSNE WEVVVQVEDD 250 260 270 280 290 300 GDGDYMSEPE AVLTRRKSNV IRKPCAAEPA LSAGSLAAEP AENRKGTAVP VECPTCHKKF 310 320 330 340 350 360 LSKYYLKVHN RKHTGEKPFE CPKCGKCYFR KENLLEHEAR NCMNRSEQVF TCSVCQETFR 370 380 390 400 410 420 RRMELRVHMV SHTGEMPYKC SSCSQQFMQK KDLQSHMIKL HGAPKPHACP TCAKCFLSRT 430 440 450 460 470 480 ELQLHEAFKH RGEKLFVCEE CGHRASSRNG LQMHIKAKHR NERPHVCEFC SHAFTQKANL 490 500 510 520 530 540 NMHLRTHTGE KPFQCHLCGK TFRTQASLDK HNRTHTGERP FSCEFCEQRF TEKGPLLRHV 550 560 570 580 590 600 ASRHQEGRPH FCQICGKTFK AVEQLRVHVR RHKGVRKFEC TECGYKFTRQ AHLRRHMEIH 610 620 630 640 650 660 DRVENYNPRQ RKLRNLIIED EKMVVVALQP PAELEVGSAE VIVESLAQGG LASQLPGQRL 670 680 CAEESFTGPG VLEPSLIITA AVPEDCDT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A factor that regulates the class II major histocompatibility complex gene DPA is a member of a subfamily of zinc finger proteins that includes a Drosophila developmental control protein." Sugawara M., Scholl T., Ponath P.D., Strominger J.L. Mol. Cell. Biol. 14:8438-8450(1994) [PubMed: 7969177] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], DNA-BINDING, FUNCTION.
[2]	"Human Kruppel-related 3 (HKR3): a candidate for the 1p36 neuroblastoma tumour suppressor gene?" Maris J.M., Jensen J., Sulman E.P., Beltinger C.P., Allen C., Biegel J.A., Brodeur G.M., White P.S. Eur. J. Cancer 33:1991-1996(1997) [PubMed: 9516840] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
[3]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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]. Tissue: Uterus.
[5]	"The GLI-Kruppel family of human genes." Ruppert J.M., Kinzler K.W., Wong A.J., Bigner S.H., Kao F.T., Law M.L., Seuanez H.N., O'Brien S.J., Vogelstein B. Mol. Cell. Biol. 8:3104-3113(1988) [PubMed: 2850480] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 461-488.
[6]	"Crystal structure of the human BTB domain of the krueppel-related zinc finger protein 3 (hKR3)." Structural genomics consortium (SGC) Submitted (NOV-2007) to the PDB data bank Cited for: X-RAY CRYSTALLOGRAPHY (1.74 ANGSTROMS) OF 2-120.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

L16896 mRNA. Translation: AAA65124.1.
U45325, U45324 Genomic DNA. Translation: AAB08973.1.
AL591866 Genomic DNA. Translation: CAI16079.1.
BC013573 mRNA. Translation: AAH13573.1.
M20677 Genomic DNA. Translation: AAA35989.1.

IPI

IPI00018893.

PIR

A56360.

RefSeq

NP_005332.1. NM_005341.2.

UniGene

Hs.502330.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3B84	X-ray	1.74	A	4-120	[»]

ProteinModelPortal

P10074.

SMR

P10074. Positions 4-115, 262-678.

ModBase

Search...

Protein-protein interaction databases

IntAct

P10074. 3 interactions.

STRING

P10074.

Polymorphism databases

DMDM

1708212.

Proteomic databases

PRIDE

P10074.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000377674; ENSP00000366902; ENSG00000204859.

GeneID

3104.

KEGG

hsa:3104.

UCSC

uc001anx.1. human.

Organism-specific databases

CTD

3104.

GeneCards

GC01P006640.

H-InvDB

HIX0056764.

HGNC

HGNC:4930. ZBTB48.

HPA

HPA030417.

MIM

165270. gene.

neXtProt

NX_P10074.

PharmGKB

PA162409481.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG10590.

HOGENOM

HBG716096.

HOVERGEN

HBG000087.

InParanoid

P10074.

OMA

CQSFKPK.

OrthoDB

EOG4WQ120.

PhylomeDB

P10074.

Gene expression databases

ArrayExpress

P10074.

Bgee

P10074.

CleanEx

HS_ZBTB48.

Genevestigator

P10074.

GermOnline

ENSG00000204859. Homo sapiens.

Family and domain databases

InterPro

IPR000210. BTB/POZ-like.
IPR011333. BTB/POZ_fold.
IPR013069. BTB_POZ.
IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]

Gene3D

G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit.
G3DSA:3.30.160.60. Znf_C2H2/integrase_DNA-bd. 10 hits.

KO

K10519.

Pfam

PF00651. BTB. 1 hit.
PF00096. zf-C2H2. 8 hits.
[Graphical view]

SMART

SM00225. BTB. 1 hit.
SM00355. ZnF_C2H2. 11 hits.
[Graphical view]

SUPFAM

SSF54695. BTB/POZ_fold. 1 hit.

PROSITE

PS50097. BTB. 1 hit.
PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 11 hits.
[Graphical view]

ProtoNet

Search...

Other

NextBio

12315.

SOURCE

Search...

Entry information

Entry name

ZBT48_HUMAN

Accession

Primary (citable) accession number: P10074
Secondary accession number(s): Q5SY19

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	October 1, 1996
Last modified:	January 25, 2012
This is version 123 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.