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Tissue-resident T-cell transcription regulator protein ZNF683 (Homolog of Blimp-1 in T-cell) (Hobit) (Zinc finger protein 683)

 ZN683_HUMAN             Reviewed;         524 AA.
Q8IZ20; Q5T141; Q5T146; Q5T147; Q5T149; Q8NEN4;
02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
02-SEP-2008, sequence version 3.
20-JUN-2018, entry version 141.
RecName: Full=Tissue-resident T-cell transcription regulator protein ZNF683 {ECO:0000305};
AltName: Full=Homolog of Blimp-1 in T-cell {ECO:0000250|UniProtKB:I7HJS4};
Short=Hobit {ECO:0000250|UniProtKB:I7HJS4};
AltName: Full=Zinc finger protein 683 {ECO:0000312|HGNC:HGNC:28495};
Name=ZNF683 {ECO:0000312|HGNC:HGNC:28495};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
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.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
ASN-204.
TISSUE=Testis;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[3]
TISSUE SPECIFICITY (MICROBIAL INFECTION), AND INDUCTION (MICROBIAL
INFECTION).
PubMed=20921622; DOI=10.1172/JCI42758;
Hertoghs K.M., Moerland P.D., van Stijn A., Remmerswaal E.B.,
Yong S.L., van de Berg P.J., van Ham S.M., Baas F., ten Berge I.J.,
van Lier R.A.;
"Molecular profiling of cytomegalovirus-induced human CD8+ T cell
differentiation.";
J. Clin. Invest. 120:4077-4090(2010).
[4]
FUNCTION (ISOFORM 1), LACK OF FUNCTION (ISOFORM 2), DNA-BINDING
(ISOFORMS 1 AND 2), DOMAIN, ALTERNATIVE SPLICING (ISOFORMS 1 AND 2),
AND TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
PubMed=26179882; DOI=10.1002/eji.201545650;
Vieira Braga F.A., Hertoghs K.M., Kragten N.A., Doody G.M.,
Barnes N.A., Remmerswaal E.B., Hsiao C.C., Moerland P.D., Wouters D.,
Derks I.A., van Stijn A., Demkes M., Hamann J., Eldering E.,
Nolte M.A., Tooze R.M., ten Berge I.J., van Gisbergen K.P.,
van Lier R.A.;
"Blimp-1 homolog Hobit identifies effector-type lymphocytes in
humans.";
Eur. J. Immunol. 45:2945-2958(2015).
-!- FUNCTION: Transcription factor that mediates a transcriptional
program in various innate and adaptive immune tissue-resident
lymphocyte T-cell types such as tissue-resident memory T (Trm),
natural killer (trNK) and natural killer T (NKT) cells and
negatively regulates gene expression of proteins that promote the
egress of tissue-resident T-cell populations from non-lymphoid
organs. Plays a role in the development, retention and long-term
establishment of adaptive and innate tissue-resident lymphocyte T
cell types in non-lymphoid organs, such as the skin and gut, but
also in other nonbarrier tissues like liver and kidney, and
therefore may provide immediate immunological protection against
reactivating infections or viral reinfection. Plays also a role in
the differentiation of both thymic and peripheral NKT cells.
Negatively regulates the accumulation of interferon-gamma (IFN-
gamma) in NKT cells at steady state or after antigenic
stimulation. Positively regulates granzyme B production in NKT
cells after innate stimulation. Associates with the
transcriptional repressor PRDM1/BLIMP1 to chromatin at gene
promoter regions. {ECO:0000250|UniProtKB:I7HJS4}.
-!- FUNCTION: Isoform 1: Lacks transcriptional repressor activity.
Binds to DNA within promoter regions of the transcriptional
repressor PRDM1/BLIMP1 target sites. Unable to regulate
interferon-gamma (IFN-gamma) production in cytomegalovirus (CMV)-
infected effector CD8(+) T-cells. {ECO:0000269|PubMed:26179882}.
-!- FUNCTION: Isoform 2: Transcriptional repressor that binds to DNA
within promoter regions of the transcriptional repressor
PRDM1/BLIMP1 target sites. Regulates interferon-gamma (IFN-gamma)
production in cytomegalovirus (CMV)-infected effector CD8(+) T
cells. {ECO:0000269|PubMed:26179882}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1; Synonyms=Extra large, XL {ECO:0000303|PubMed:26179882};
IsoId=Q8IZ20-1; Sequence=Displayed;
Name=2; Synonyms=Large, L {ECO:0000303|PubMed:26179882};
IsoId=Q8IZ20-2; Sequence=VSP_018167;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in terminally differentiated
effector CD8(+) T-cells, but not in naive and central memory cells
(PubMed:26179882). Expressed in terminally differentiated natural
killer (NK) cells and natural killer (NKT) T-cells (at protein
level) (PubMed:26179882). Expressed strongly in effector-type
CD8(+) T-cells and weakly in naive and memory CD8(+) T-cells
(PubMed:26179882). Expressed in terminally differentiated natural
killer (NK) cells (PubMed:26179882). Isoform 2 is strongly
expressed in effector CD8(+) T and natural killer (NK) cells
(PubMed:26179882). Isoform 1 is expressed in effector CD8(+) T and
natural killer (NK) cells (PubMed:26179882).
{ECO:0000269|PubMed:26179882}.
-!- TISSUE SPECIFICITY: (Microbial infection) Expressed in
cytomegalovirus (CMV)-infected effector CD8(+) T-cells (at protein
level) (PubMed:20921622). {ECO:0000269|PubMed:20921622}.
-!- INDUCTION: (Microbial infection) Up-regulated by cytomegalovirus
(CMV) infection in long-lived effector CD8(+) T-cells
(PubMed:20921622). {ECO:0000269|PubMed:20921622}.
-!- DOMAIN: The C2H2-type zinc finger are necessary for DNA-binding
(PubMed:26179882). {ECO:0000269|PubMed:26179882}.
-!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAH28731.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=AAH29505.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAI15857.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=CAI15858.2; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AL451139; CAI15853.2; -; Genomic_DNA.
EMBL; AL451139; CAI15854.2; -; Genomic_DNA.
EMBL; AL451139; CAI15855.2; -; Genomic_DNA.
EMBL; AL451139; CAI15856.2; -; Genomic_DNA.
EMBL; AL451139; CAI15857.2; ALT_INIT; Genomic_DNA.
EMBL; AL451139; CAI15858.2; ALT_INIT; Genomic_DNA.
EMBL; BC028731; AAH28731.2; ALT_INIT; mRNA.
EMBL; BC029505; AAH29505.1; ALT_INIT; mRNA.
CCDS; CCDS279.2; -. [Q8IZ20-2]
CCDS; CCDS76126.1; -. [Q8IZ20-1]
RefSeq; NP_001108231.1; NM_001114759.2. [Q8IZ20-2]
RefSeq; NP_001294854.1; NM_001307925.1. [Q8IZ20-1]
RefSeq; NP_775845.2; NM_173574.3. [Q8IZ20-2]
RefSeq; XP_005245887.1; XM_005245830.3. [Q8IZ20-1]
RefSeq; XP_005245889.1; XM_005245832.3. [Q8IZ20-1]
RefSeq; XP_011539500.1; XM_011541198.2. [Q8IZ20-1]
UniGene; Hs.353208; -.
ProteinModelPortal; Q8IZ20; -.
SMR; Q8IZ20; -.
IntAct; Q8IZ20; 5.
STRING; 9606.ENSP00000344095; -.
iPTMnet; Q8IZ20; -.
PhosphoSitePlus; Q8IZ20; -.
BioMuta; ZNF683; -.
DMDM; 205371859; -.
PaxDb; Q8IZ20; -.
PeptideAtlas; Q8IZ20; -.
PRIDE; Q8IZ20; -.
ProteomicsDB; 71269; -.
ProteomicsDB; 71270; -. [Q8IZ20-2]
DNASU; 257101; -.
Ensembl; ENST00000349618; ENSP00000344095; ENSG00000176083. [Q8IZ20-2]
Ensembl; ENST00000403843; ENSP00000384782; ENSG00000176083. [Q8IZ20-1]
Ensembl; ENST00000436292; ENSP00000388792; ENSG00000176083. [Q8IZ20-1]
GeneID; 257101; -.
KEGG; hsa:257101; -.
UCSC; uc001bmg.2; human. [Q8IZ20-1]
CTD; 257101; -.
DisGeNET; 257101; -.
EuPathDB; HostDB:ENSG00000176083.17; -.
GeneCards; ZNF683; -.
HGNC; HGNC:28495; ZNF683.
HPA; HPA023865; -.
neXtProt; NX_Q8IZ20; -.
OpenTargets; ENSG00000176083; -.
PharmGKB; PA142670484; -.
eggNOG; KOG2461; Eukaryota.
eggNOG; ENOG410ZFVU; LUCA.
GeneTree; ENSGT00880000137973; -.
HOGENOM; HOG000155807; -.
InParanoid; Q8IZ20; -.
OMA; FQCALCQ; -.
OrthoDB; EOG091G0467; -.
PhylomeDB; Q8IZ20; -.
TreeFam; TF316545; -.
ChiTaRS; ZNF683; human.
GenomeRNAi; 257101; -.
PRO; PR:Q8IZ20; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000176083; -.
CleanEx; HS_ZNF683; -.
ExpressionAtlas; Q8IZ20; baseline and differential.
Genevisible; Q8IZ20; HS.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0001047; F:core promoter binding; IDA:UniProtKB.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:1990841; F:promoter-specific chromatin binding; ISS:UniProtKB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0001191; F:transcriptional repressor activity, RNA polymerase II transcription factor binding; IDA:UniProtKB.
GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
GO; GO:1904637; P:cellular response to ionomycin; IDA:UniProtKB.
GO; GO:0045087; P:innate immune response; IEA:UniProtKB-KW.
GO; GO:0032689; P:negative regulation of interferon-gamma production; IDA:UniProtKB.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:UniProtKB.
GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
GO; GO:0033082; P:regulation of extrathymic T cell differentiation; ISS:UniProtKB.
GO; GO:0010468; P:regulation of gene expression; ISS:UniProtKB.
GO; GO:0032823; P:regulation of natural killer cell differentiation; ISS:UniProtKB.
GO; GO:0032826; P:regulation of natural killer cell differentiation involved in immune response; ISS:UniProtKB.
GO; GO:0051136; P:regulation of NK T cell differentiation; ISS:UniProtKB.
GO; GO:0050852; P:T cell receptor signaling pathway; IDA:UniProtKB.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
InterPro; IPR036236; Znf_C2H2_sf.
InterPro; IPR013087; Znf_C2H2_type.
SMART; SM00355; ZnF_C2H2; 4.
SUPFAM; SSF57667; SSF57667; 2.
PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
PROSITE; PS50157; ZINC_FINGER_C2H2_2; 4.
1: Evidence at protein level;
Adaptive immunity; Alternative splicing; Complete proteome;
DNA-binding; Immunity; Innate immunity; Metal-binding; Nucleus;
Polymorphism; Reference proteome; Repeat; Transcription;
Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 524 Tissue-resident T-cell transcription
regulator protein ZNF683.
/FTId=PRO_0000234002.
ZN_FING 322 344 C2H2-type 1. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 350 372 C2H2-type 2. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 398 420 C2H2-type 3; degenerate.
{ECO:0000255|PROSITE-ProRule:PRU00042}.
ZN_FING 426 448 C2H2-type 4. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
VAR_SEQ 382 401 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_018167.
VARIANT 22 22 G -> V (in dbSNP:rs35040247).
/FTId=VAR_057442.
VARIANT 48 48 D -> G (in dbSNP:rs10794532).
/FTId=VAR_057443.
VARIANT 53 53 H -> R (in dbSNP:rs10794531).
/FTId=VAR_057444.
VARIANT 204 204 H -> N (in dbSNP:rs17852672).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_026155.
VARIANT 288 288 R -> L (in dbSNP:rs11247933).
/FTId=VAR_057445.
SEQUENCE 524 AA; 56905 MW; F6D800F2A8EE829A CRC64;
MKEESAAQLG CCHRPMALGG TGGSLSPSLD FQLFRGDQVF SACRPLPDMV DAHGPSCASW
LCPLPLAPGR SALLACLQDL DLNLCTPQPA PLGTDLQGLQ EDALSMKHEP PGLQASSTDD
KKFTVKYPQN KDKLGKQPER AGEGAPCPAF SSHNSSSPPP LQNRKSPSPL AFCPCPPVNS
ISKELPFLLH AFYPGYPLLL PPPHLFTYGA LPSDQCPHLL MLPQDPSYPT MAMPSLLMMV
NELGHPSARW ETLLPYPGAF QASGQALPSQ ARNPGAGAAP TDSPGLERGG MASPAKRVPL
SSQTGTAALP YPLKKKNGKI LYECNICGKS FGQLSNLKVH LRVHSGERPF QCALCQKSFT
QLAHLQKHHL VHTGERPHKC SIPWVPGRNH WKSFQAWRER EVCHKRFSSS SNLKTHLRLH
SGARPFQCSV CRSRFTQHIH LKLHHRLHAP QPCGLVHTQL PLASLACLAQ WHQGALDLMA
VASEKHMGYD IDEVKVSSTS QGKARAVSLS SAGTPLVMGQ DQNN


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