ZN831_HUMAN
ID ZN831_HUMAN Reviewed; 1677 AA.
AC Q5JPB2; Q5TDR4; Q8TCP0;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-OCT-2007, sequence version 4.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Zinc finger protein 831;
GN Name=ZNF831; Synonyms=C20orf174;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 379-1677.
RC TISSUE=Lymph node;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP VARIANT HIS-1615.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- SEQUENCE CAUTION:
CC Sequence=CAI46154.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL121919; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL713683; CAD28487.1; -; mRNA.
DR EMBL; AL833682; CAI46154.1; ALT_INIT; mRNA.
DR CCDS; CCDS42894.1; -.
DR RefSeq; NP_848552.1; NM_178457.2.
DR RefSeq; XP_005260329.1; XM_005260272.3.
DR RefSeq; XP_005260330.1; XM_005260273.3.
DR RefSeq; XP_006723761.1; XM_006723698.3.
DR RefSeq; XP_011526836.1; XM_011528534.2.
DR RefSeq; XP_011526838.1; XM_011528536.2.
DR RefSeq; XP_011526839.1; XM_011528537.2.
DR RefSeq; XP_011526840.1; XM_011528538.2.
DR RefSeq; XP_016883131.1; XM_017027642.1.
DR RefSeq; XP_016883132.1; XM_017027643.1.
DR RefSeq; XP_016883133.1; XM_017027644.1.
DR AlphaFoldDB; Q5JPB2; -.
DR SMR; Q5JPB2; -.
DR BioGRID; 126136; 4.
DR IntAct; Q5JPB2; 1.
DR STRING; 9606.ENSP00000360069; -.
DR GlyGen; Q5JPB2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5JPB2; -.
DR PhosphoSitePlus; Q5JPB2; -.
DR BioMuta; ZNF831; -.
DR DMDM; 160370001; -.
DR jPOST; Q5JPB2; -.
DR MassIVE; Q5JPB2; -.
DR MaxQB; Q5JPB2; -.
DR PaxDb; Q5JPB2; -.
DR PeptideAtlas; Q5JPB2; -.
DR PRIDE; Q5JPB2; -.
DR ProteomicsDB; 63006; -.
DR Antibodypedia; 5844; 8 antibodies from 7 providers.
DR Ensembl; ENST00000371030.4; ENSP00000360069.2; ENSG00000124203.7.
DR Ensembl; ENST00000637017.1; ENSP00000490240.1; ENSG00000124203.7.
DR GeneID; 128611; -.
DR KEGG; hsa:128611; -.
DR MANE-Select; ENST00000371030.4; ENSP00000360069.2; NM_178457.3; NP_848552.1.
DR UCSC; uc002yan.4; human.
DR CTD; 128611; -.
DR DisGeNET; 128611; -.
DR GeneCards; ZNF831; -.
DR HGNC; HGNC:16167; ZNF831.
DR HPA; ENSG00000124203; Group enriched (brain, intestine, lymphoid tissue).
DR neXtProt; NX_Q5JPB2; -.
DR OpenTargets; ENSG00000124203; -.
DR PharmGKB; PA162410774; -.
DR VEuPathDB; HostDB:ENSG00000124203; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161664; -.
DR HOGENOM; CLU_243145_0_0_1; -.
DR InParanoid; Q5JPB2; -.
DR OMA; RINPKRY; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q5JPB2; -.
DR TreeFam; TF338213; -.
DR PathwayCommons; Q5JPB2; -.
DR BioGRID-ORCS; 128611; 9 hits in 1087 CRISPR screens.
DR ChiTaRS; ZNF831; human.
DR GenomeRNAi; 128611; -.
DR Pharos; Q5JPB2; Tdark.
DR PRO; PR:Q5JPB2; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q5JPB2; protein.
DR Bgee; ENSG00000124203; Expressed in granulocyte and 81 other tissues.
DR Genevisible; Q5JPB2; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 1.
DR SMART; SM00355; ZnF_C2H2; 2.
DR SUPFAM; SSF57667; SSF57667; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 2.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 2.
PE 2: Evidence at transcript level;
KW Coiled coil; Metal-binding; Reference proteome; Repeat; Zinc; Zinc-finger.
FT CHAIN 1..1677
FT /note="Zinc finger protein 831"
FT /id="PRO_0000236041"
FT ZN_FING 144..166
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 172..196
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..43
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 193..250
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 270..398
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 516..557
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 663..931
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 950..1062
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1100..1119
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1137..1176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1216..1243
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1510..1597
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1620..1677
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 391..423
FT /evidence="ECO:0000255"
FT COMPBIAS 1..28
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 218..238
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 328..344
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 710..726
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 814..835
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 845..859
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1152..1176
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1227..1241
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1517..1535
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1544..1560
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1642..1677
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 845
FT /note="G -> R (in dbSNP:rs181984)"
FT /id="VAR_026472"
FT VARIANT 1513
FT /note="S -> P (in dbSNP:rs259956)"
FT /id="VAR_026473"
FT VARIANT 1615
FT /note="R -> H (in dbSNP:rs201549554)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069367"
SQ SEQUENCE 1677 AA; 177949 MW; D4D23943AAC3DA89 CRC64;
MEVPEPTCPA PPARDQPAPT PGPPGAPGGQ ASPHLTLGPV LLPPEQGLAP PTVFLKALPI
PLYHTVPPGG LQPRAPLVTG SLDGGNVPFI LSPVLQPEGP GPTQVGKPAA PTLTVNIVGT
LPVLSPGLGP TLGSPGKVRN AGKYLCPHCG RDCLKPSVLE KHIRSHTGER PFPCATCGIA
FKTQSNLYKH RRTQTHLNNS RLSSESEGAG GGLLEEGDKA GEPPRPEGRG ESRCQGMHEG
ASERPLSPGA HVPLLAKNLD VRTEAAPCPG SAFADREAPW DSAPMASPGL PAASTQPWRK
LPEQKSPTAG KPCALQRQQA TAAEKPWDAK APEGRLRKCE STDSGYLSRS DSAEQPHAPC
SPLHSLSEHS AESEGEGGPG PGPGVAGAEP GAREAGLELE KKRLEERIAQ LISHNQAVVD
DAQLDNVRPR KTGLSKQGSI DLPTPYTYKD SFHFDIRALE PGRRRAPGPV RSTWTPPDKS
RPLFFHSVPT QLSTTVECVP VTRSNSLPFV EGSRTWLEPR EPRDPWSRTQ KPLSPRPGPA
RLGCRSGLSS TDVPSGHPRA LVRQAAVEDL PGTPIGDALV PAEDTDAKRT AAREAMAGKG
RAGGRKCGQR RLKMFSQEKW QVYGDETFKR IYQKMKASPH GGKKAREVGM GSGAELGFPL
QKEAAGSSGT VPTQDRRTPV HEDISAGATP EPWGNPPALE ASLVTEPTKH GETVARRGDS
DRPRVEEAVS SPALGGRDSP CSGSRSPLVS PNGRLELGWQ MPPAPGPLKG GDVEAPRPVW
PDPKLEGGAR GVGDVQETCL WAQTVLRWPS RGSGEDKLPS ERKKLKVEDL HSWKQPEPVS
AETPGGPTQP ASLSSQKQDA DPGEVPGGSK ESARQVGEPL ESSGASLAAA SVALKRVGPR
DKATPLHPAA PAPAEHPSLA TPPQAPRVLS ALADNAFSPK YLLRLPQAET PLPLPIPWGP
RHSQDSLCSS GWPEERASFV GSGLGTPLSP SPASGPSPGE ADSILEDPSC SRPQDGRKGA
QLGGDKGDRM ATSRPAAREL PISAPGAPRE ATSSPPTPTC EAHLVQDMEG DSHRIHRLCM
GSTLARARLS GDVLNPWVPN WELGEPPGNA PEDPSSGPLV GPDPCSPLQP GSFLTALTRP
QGVPPGWPEL ALSSHSGTSR SHSTRSPHST QNPFPSLKAE PRLTWCCLSR SVPLPAEQKA
KAASVYLAVH FPGSSLRDEG PNGPPGSNGG WTWTSPGEGG PAQMSKFSYP TVPGVMPQHQ
VSEPEWKKGL PWRAKMSRGN SKQRKLKINP KRYKGNFLQS CVQLRASRLR TPTWVRRRSR
HPPALEGLKP CRTPGQTSSE IAGLNLQEEP SCATSESPPC CGKEEKKEGD CRQTLGTLSL
GTSSRIVREM DKRTVKDISP SAGEHGDCTT HSTAATSGLS LQSDTCLAVV NDVPLPPGKG
LDLGLLETQL LASQDSVSTD PKPYIFSDAQ RPSSFGSKGT FPHHDIATSV AAVCISLPVR
TDHIAQEIHS AESRDHSQTA GRTLTSSSPD SKVTEEGRAQ TLLPGRPSSG QRISDSVPLE
STEKTHLEIP ASGPSSASSH HKEGRHKTFF PSRGQYGCGE MTVPCPSLGS DGRKRQVSGL
ITRKDSVVPS KPEQPIEIPE APSKSLKKRS LEGMRKQTRV EFSDTSSDDE DRLVIEI
