ZN141_HUMAN
ID ZN141_HUMAN Reviewed; 474 AA.
AC Q15928; Q6DK07;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1997, sequence version 1.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Zinc finger protein 141;
GN Name=ZNF141; Synonyms=D4S90;
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 [MRNA].
RC TISSUE=Insulinoma;
RX PubMed=8268908; DOI=10.1093/hmg/2.10.1571;
RA Tommerup N., Aagaard L., Lund C.L., Boel E., Baxendale S., Bates G.P.,
RA Lehrach H., Vissing H.;
RT "A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for
RT the Wolf-Hirschhorn (4p-) syndrome.";
RL Hum. Mol. Genet. 2:1571-1575(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP FUNCTION, AND VARIANT PAPA6 ILE-474.
RX PubMed=23160277; DOI=10.1136/jmedgenet-2012-101219;
RA Kalsoom U.E., Klopocki E., Wasif N., Tariq M., Khan S., Hecht J.,
RA Krawitz P., Mundlos S., Ahmad W.;
RT "Whole exome sequencing identified a novel zinc-finger gene ZNF141
RT associated with autosomal recessive postaxial polydactyly type A.";
RL J. Med. Genet. 50:47-53(2013).
CC -!- FUNCTION: May be involved in transcriptional regulation as a repressor.
CC Plays a role in limb development. {ECO:0000269|PubMed:23160277}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Ubiquitously low expression.
CC -!- DISEASE: Polydactyly, postaxial A6 (PAPA6) [MIM:615226]: A condition
CC characterized by the occurrence of supernumerary digits in the upper
CC and/or lower extremities. In postaxial polydactyly type A, the extra
CC digit is well-formed and articulates with the fifth or a sixth
CC metacarpal/metatarsal. {ECO:0000269|PubMed:23160277}. Note=The disease
CC is caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
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DR EMBL; L15309; AAC37529.1; -; mRNA.
DR EMBL; BC074853; AAH74853.3; -; mRNA.
DR CCDS; CCDS33931.1; -.
DR PIR; I54338; I54338.
DR RefSeq; NP_003432.1; NM_003441.3.
DR AlphaFoldDB; Q15928; -.
DR SMR; Q15928; -.
DR STRING; 9606.ENSP00000240499; -.
DR iPTMnet; Q15928; -.
DR PhosphoSitePlus; Q15928; -.
DR BioMuta; ZNF141; -.
DR DMDM; 2501717; -.
DR EPD; Q15928; -.
DR jPOST; Q15928; -.
DR MassIVE; Q15928; -.
DR PaxDb; Q15928; -.
DR PeptideAtlas; Q15928; -.
DR PRIDE; Q15928; -.
DR ProteomicsDB; 60818; -.
DR Antibodypedia; 7954; 59 antibodies from 14 providers.
DR DNASU; 7700; -.
DR Ensembl; ENST00000240499.8; ENSP00000240499.7; ENSG00000131127.14.
DR GeneID; 7700; -.
DR KEGG; hsa:7700; -.
DR MANE-Select; ENST00000240499.8; ENSP00000240499.7; NM_003441.4; NP_003432.1.
DR UCSC; uc003gaa.3; human.
DR CTD; 7700; -.
DR DisGeNET; 7700; -.
DR GeneCards; ZNF141; -.
DR HGNC; HGNC:12926; ZNF141.
DR HPA; ENSG00000131127; Low tissue specificity.
DR MalaCards; ZNF141; -.
DR MIM; 194648; gene.
DR MIM; 615226; phenotype.
DR neXtProt; NX_Q15928; -.
DR OpenTargets; ENSG00000131127; -.
DR Orphanet; 93334; Postaxial polydactyly type A.
DR PharmGKB; PA37513; -.
DR VEuPathDB; HostDB:ENSG00000131127; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000161765; -.
DR HOGENOM; CLU_002678_44_0_1; -.
DR InParanoid; Q15928; -.
DR OMA; CEHELSR; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q15928; -.
DR TreeFam; TF342117; -.
DR PathwayCommons; Q15928; -.
DR Reactome; R-HSA-212436; Generic Transcription Pathway.
DR BioGRID-ORCS; 7700; 104 hits in 1057 CRISPR screens.
DR ChiTaRS; ZNF141; human.
DR GenomeRNAi; 7700; -.
DR Pharos; Q15928; Tbio.
DR PRO; PR:Q15928; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q15928; protein.
DR Bgee; ENSG00000131127; Expressed in calcaneal tendon and 128 other tissues.
DR ExpressionAtlas; Q15928; baseline and differential.
DR Genevisible; Q15928; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0035108; P:limb morphogenesis; IMP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0006366; P:transcription by RNA polymerase II; TAS:ProtInc.
DR CDD; cd07765; KRAB_A-box; 1.
DR InterPro; IPR001909; KRAB.
DR InterPro; IPR036051; KRAB_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF01352; KRAB; 1.
DR Pfam; PF00096; zf-C2H2; 8.
DR SMART; SM00349; KRAB; 1.
DR SMART; SM00355; ZnF_C2H2; 11.
DR SUPFAM; SSF109640; SSF109640; 1.
DR SUPFAM; SSF57667; SSF57667; 6.
DR PROSITE; PS50805; KRAB; 1.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; DNA-binding; Metal-binding;
KW Nucleus; Reference proteome; Repeat; Repressor; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..474
FT /note="Zinc finger protein 141"
FT /id="PRO_0000047424"
FT DOMAIN 4..75
FT /note="KRAB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00119"
FT ZN_FING 171..193
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 199..221
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 227..249
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 255..277
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 283..305
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 311..333
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 339..361
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 367..389
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 395..417
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 423..445
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 451..473
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT VARIANT 124
FT /note="K -> E (in dbSNP:rs2229296)"
FT /id="VAR_019973"
FT VARIANT 349
FT /note="R -> K (in dbSNP:rs955417)"
FT /id="VAR_012026"
FT VARIANT 358
FT /note="K -> N (in dbSNP:rs2018645)"
FT /id="VAR_012027"
FT VARIANT 474
FT /note="T -> I (in PAPA6; dbSNP:rs587776959)"
FT /evidence="ECO:0000269|PubMed:23160277"
FT /id="VAR_069637"
SQ SEQUENCE 474 AA; 55249 MW; 6133202F1DB207E8 CRC64;
MELLTFRDVA IEFSPEEWKC LDPDQQNLYR DVMLENYRNL VSLGVAISNP DLVTCLEQRK
EPYNVKIHKI VARPPAMCSH FTQDHWPVQG IEDSFHKLIL RRYEKCGHDN LQLRKGCKSL
NECKLQKGGY NEFNECLSTT QSKILQCKAS VKVVSKFSNS NKRKTRHTGE KHFKECGKSF
QKFSHLTQHK VIHAGEKPYT CEECGKAFKW SLIFNEHKRI HTGEKPFTCE ECGSIFTTSS
HFAKHKIIHT GEKPYKCEEC GKAFNRFTTL TKHKRIHAGE KPITCEECRK IFTSSSNFAK
HKRIHTGEKP YKCEECGKAF NRSTTLTKHK RIHTGEKPYT CEECGKAFRQ SSKLNEHKKV
HTGERPYKCD ECGKAFGRSR VLNEHKKIHT GEKPYKCEEC GKAFRRSTDR SQHKKIHSAD
KPYKCKECDK AFKQFSLLSQ HKKIHTVDKP YKCKDCDKAF KRFSHLNKHK KIHT
