ID ZNF41_HUMAN Reviewed; 821 AA. AC P51814; A8K1V6; B4DH01; Q96LE8; Q9UMC4; Q9UMV5; Q9UMV6; Q9UMV7; AC Q9UMV8; Q9UMV9; Q9UMW0; Q9UMW1; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 23-JAN-2002, sequence version 2. DT 05-OCT-2010, entry version 111. DE RecName: Full=Zinc finger protein 41; GN Name=ZNF41; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA], AND ALTERNATIVE SPLICING. RX MEDLINE=99380103; PubMed=10449920; RA Rosati M., Franze A., Matarazzo M.R., Grimaldi G.; RT "Coding region intron/exon organization, alternative splicing and X- RT chromosome inactivation of the KRAB/FPB-domain-containing human zinc RT finger gene ZNF41."; RL Cytogenet. Cell Genet. 85:291-296(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 6). RC TISSUE=Brain, and Hippocampus; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). RC TISSUE=Uterus; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 280-821. RX MEDLINE=91244317; PubMed=2037297; DOI=10.1016/0888-7543(91)90367-N; RA Franze A., Archidiacono N., Rocchi M., Marino M., Grimaldi G.; RT "Isolation and expression analysis of a human zinc finger gene (ZNF41) RT located on the short arm of the X chromosome."; RL Genomics 9:728-736(1991). RN [7] RP ALTERNATIVE SPLICING, TISSUE SPECIFICITY, VARIANT MRX89 LEU-153, AND RP VARIANTS ARG-167 AND GLU-357. RX PubMed=14628291; DOI=10.1086/380309; RA Shoichet S.A., Hoffmann K., Menzel C., Trautmann U., Moser B., RA Hoeltzenbein M., Echenne B., Partington M., Van Bokhoven H., RA Moraine C., Fryns J.-P., Chelly J., Rott H.-D., Ropers H.-H., RA Kalscheuer V.M.; RT "Mutations in the ZNF41 gene are associated with cognitive deficits: RT identification of a new candidate for X-linked mental retardation."; RL Am. J. Hum. Genet. 73:1341-1354(2003). CC -!- FUNCTION: May be involved in transcriptional regulation. CC -!- SUBCELLULAR LOCATION: Nucleus (Potential). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=8; CC Comment=Additional isoforms seem to exist; CC Name=1; CC IsoId=P51814-1; Sequence=Displayed; CC Name=2; CC IsoId=P51814-2; Sequence=VSP_006883; CC Name=3; CC IsoId=P51814-3; Sequence=VSP_006884; CC Name=4; CC IsoId=P51814-4; Sequence=VSP_006887; CC Name=5; CC IsoId=P51814-5; Sequence=VSP_006886; CC Name=6; CC IsoId=P51814-6; Sequence=VSP_006885; CC Name=7; CC IsoId=P51814-7; Sequence=VSP_006883, VSP_006888; CC Name=8; CC IsoId=P51814-8; Sequence=VSP_006885, VSP_006888; CC -!- TISSUE SPECIFICITY: Expressed in the heart, brain, placenta, lung, CC liver, skeletal muscle, kidney and pancreas. CC -!- DISEASE: Defects in ZNF41 are the cause of mental retardation X- CC linked type 89 (MRX89) [MIM:314995]. Mental retardation is CC characterized by significantly sub-average general intellectual CC functioning associated with impairments in adaptative behavior and CC manifested during the developmental period. Non-syndromic mental CC retardation patients do not manifest other clinical signs. CC -!- DISEASE: Note=A chromosomal aberration involving ZNF41 has been CC found in a patient with sever mental retardation. Translocation CC t(X;7)(p11.3;q11.21). CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein CC family. CC -!- SIMILARITY: Contains 18 C2H2-type zinc fingers. CC -!- SIMILARITY: Contains 1 KRAB domain. CC -!- WEB RESOURCE: Name=GeneReviews; CC URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZNF41"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; X60155; CAB51740.1; -; mRNA. DR EMBL; AJ010017; CAB53035.1; -; mRNA. DR EMBL; AJ010018; CAB53036.1; -; mRNA. DR EMBL; AJ010019; CAB53037.1; -; mRNA. DR EMBL; AJ010020; CAB53038.1; -; mRNA. DR EMBL; AJ010021; CAB53039.1; -; mRNA. DR EMBL; AJ010022; CAB53040.1; -; mRNA. DR EMBL; AJ010023; CAB53041.1; -; mRNA. DR EMBL; AK290021; BAF82710.1; -; mRNA. DR EMBL; AK294858; BAG57962.1; -; mRNA. DR EMBL; AL590283; CAI41627.1; -; Genomic_DNA. DR EMBL; AL590223; CAI41627.1; JOINED; Genomic_DNA. DR EMBL; AL590223; CAI41591.1; -; Genomic_DNA. DR EMBL; AL590283; CAI41591.1; JOINED; Genomic_DNA. DR EMBL; CH471164; EAW59303.1; -; Genomic_DNA. DR EMBL; BC015023; AAH15023.1; -; mRNA. DR EMBL; M92443; AAA61312.1; -; Genomic_DNA. DR IPI; IPI00020900; -. DR IPI; IPI00221192; -. DR IPI; IPI00221194; -. DR IPI; IPI00221195; -. DR IPI; IPI00221196; -. DR IPI; IPI00221197; -. DR IPI; IPI00221198; -. DR IPI; IPI00221200; -. DR PIR; A54661; A54661. DR RefSeq; NP_009061.1; -. DR RefSeq; NP_700359.1; -. DR UniGene; Hs.496074; -. DR ProteinModelPortal; P51814; -. DR IntAct; P51814; 1. DR MINT; MINT-1188906; -. DR STRING; P51814; -. DR PRIDE; P51814; -. DR Ensembl; ENST00000397050; ENSP00000380243; ENSG00000147124. DR GeneID; 7592; -. DR KEGG; hsa:7592; -. DR UCSC; uc004dhs.2; human. DR UCSC; uc004dht.2; human. DR UCSC; uc004dhu.2; human. DR UCSC; uc004dhx.2; human. DR CTD; 7592; -. DR GeneCards; GC0XM047305; -. DR HGNC; HGNC:13107; ZNF41. DR MIM; 314995; gene+phenotype. DR Orphanet; 101685; Rare intellectual deficit without developmental anomaly. DR PharmGKB; PA37682; -. DR eggNOG; prNOG11747; -. DR HOVERGEN; HBG018163; -. DR InParanoid; P51814; -. DR OMA; SIKRLHN; -. DR OrthoDB; EOG9ZCWPM; -. DR PhylomeDB; P51814; -. DR NextBio; 29667; -. DR ArrayExpress; P51814; -. DR Bgee; P51814; -. DR Genevestigator; P51814; -. DR GermOnline; ENSG00000147124; Homo sapiens. DR GO; GO:0005634; C:nucleus; NAS:UniProtKB. DR GO; GO:0003700; F:transcription factor activity; NAS:UniProtKB. DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro. DR GO; GO:0006355; P:regulation of transcription, DNA-dependent; NAS:UniProtKB. DR GO; GO:0006350; P:transcription; IEA:UniProtKB-KW. DR InterPro; IPR001909; Krueppel-associated_box. DR InterPro; IPR007087; Znf_C2H2. DR InterPro; IPR015880; Znf_C2H2-like. DR InterPro; IPR013087; Znf_C2H2/integrase_DNA-bd. DR Gene3D; G3DSA:3.30.160.60; Znf_C2H2/integrase_DNA-bd; 17. DR Pfam; PF01352; KRAB; 1. DR Pfam; PF00096; zf-C2H2; 14. DR SMART; SM00349; KRAB; 1. DR SMART; SM00355; ZnF_C2H2; 17. DR SUPFAM; SSF109640; Krueppel-associated_box; 1. DR PROSITE; PS50805; KRAB; 1. DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 17. DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 18. PE 1: Evidence at protein level; KW Alternative splicing; Chromosomal rearrangement; Complete proteome; KW Disease mutation; DNA-binding; Mental retardation; Metal-binding; KW Nucleus; Polymorphism; Repeat; Transcription; KW Transcription regulation; Zinc; Zinc-finger. FT CHAIN 1 821 Zinc finger protein 41. FT /FTId=PRO_0000047374. FT DOMAIN 69 140 KRAB. FT ZN_FING 313 335 C2H2-type 1. FT ZN_FING 341 364 C2H2-type 2; degenerate. FT ZN_FING 369 391 C2H2-type 3. FT ZN_FING 397 419 C2H2-type 4. FT ZN_FING 425 447 C2H2-type 5. FT ZN_FING 453 475 C2H2-type 6. FT ZN_FING 481 503 C2H2-type 7. FT ZN_FING 509 531 C2H2-type 8. FT ZN_FING 537 559 C2H2-type 9. FT ZN_FING 565 587 C2H2-type 10. FT ZN_FING 593 615 C2H2-type 11. FT ZN_FING 621 643 C2H2-type 12. FT ZN_FING 649 671 C2H2-type 13. FT ZN_FING 677 699 C2H2-type 14. FT ZN_FING 705 727 C2H2-type 15. FT ZN_FING 733 755 C2H2-type 16. FT ZN_FING 761 783 C2H2-type 17. FT ZN_FING 789 811 C2H2-type 18. FT VAR_SEQ 1 128 Missing (in isoform 4). FT /FTId=VSP_006887. FT VAR_SEQ 1 60 MAANGDSPPWSPALAAEGRGSSCEVRRERTPEARIHSVKRY FT PDLSPGPKGRSSADHAALN -> MGTLPHGPRPWLQRDVAA FT HV (in isoform 7 and isoform 2). FT /FTId=VSP_006883. FT VAR_SEQ 1 52 MAANGDSPPWSPALAAEGRGSSCEVRRERTPEARIHSVKRY FT PDLSPGPKGRS -> MGTLPHGPRPWLQRDVAAHV (in FT isoform 3). FT /FTId=VSP_006884. FT VAR_SEQ 25 66 Missing (in isoform 6 and isoform 8). FT /FTId=VSP_006885. FT VAR_SEQ 53 60 Missing (in isoform 5). FT /FTId=VSP_006886. FT VAR_SEQ 141 176 Missing (in isoform 7 and isoform 8). FT /FTId=VSP_006888. FT VARIANT 153 153 P -> L (in MRX89). FT /FTId=VAR_021785. FT VARIANT 167 167 I -> R (in dbSNP:rs17147624). FT /FTId=VAR_021786. FT VARIANT 357 357 D -> E (in dbSNP:rs2498170). FT /FTId=VAR_021787. FT CONFLICT 111 111 Q -> R (in Ref. 1; CAB53039). SQ SEQUENCE 821 AA; 93728 MW; F44B7808C9A8AF13 CRC64; MAANGDSPPW SPALAAEGRG SSCEVRRERT PEARIHSVKR YPDLSPGPKG RSSADHAALN SIVSLQASVS FEDVTVDFSK EEWQHLDPAQ RRLYWDVTLE NYSHLLSVGY QIPKSEAAFK LEQGEGPWML EGEAPHQSCS GEAIGKMQQQ GIPGGIFFHC ERFDQPIGED SLCSILEELW QDNDQLEQRQ ENQNNLLSHV KVLIKERGYE HKNIEKIIHV TTKLVPSIKR LHNCDTILKH TLNSHNHNRN SATKNLGKIF GNGNNFPHSP SSTKNENAKT GANSCEHDHY EKHLSHKQAP THHQKIHPEE KLYVCTECVM GFTQKSHLFE HQRIHAGEKS RECDKSNKVF PQKPQVDVHP SVYTGEKPYL CTQCGKVFTL KSNLITHQKI HTGQKPYKCS ECGKAFFQRS DLFRHLRIHT GEKPYECSEC GKGFSQNSDL SIHQKTHTGE KHYECNECGK AFTRKSALRM HQRIHTGEKP YVCADCGKAF IQKSHFNTHQ RIHTGEKPYE CSDCGKSFTK KSQLHVHQRI HTGEKPYICT ECGKVFTHRT NLTTHQKTHT GEKPYMCAEC GKAFTDQSNL IKHQKTHTGE KPYKCNGCGK AFIWKSRLKI HQKSHIGERH YECKDCGKAF IQKSTLSVHQ RIHTGEKPYV CPECGKAFIQ KSHFIAHHRI HTGEKPYECS DCGKCFTKKS QLRVHQKIHT GEKPNICAEC GKAFTDRSNL ITHQKIHTRE KPYECGDCGK TFTWKSRLNI HQKSHTGERH YECSKCGKAF IQKATLSMHQ IIHTGKKPYA CTECQKAFTD RSNLIKHQKM HSGEKRYKAS D //