ZMAT1_HUMAN
ID ZMAT1_HUMAN Reviewed; 638 AA.
AC Q5H9K5; Q8NDS3; Q96JN6;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Zinc finger matrin-type protein 1;
GN Name=ZMAT1; Synonyms=KIAA1789;
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 MRNA] (ISOFORM 2), AND VARIANT ARG-536.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [2]
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., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., 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., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., 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., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., 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., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., 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., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 429-638, AND VARIANT ARG-536.
RC TISSUE=Brain;
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).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5H9K5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5H9K5-2; Sequence=VSP_029533;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB47418.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB058692; BAB47418.1; ALT_INIT; mRNA.
DR EMBL; Z68868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z69304; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL831883; CAD38564.1; -; mRNA.
DR CCDS; CCDS35348.1; -. [Q5H9K5-1]
DR RefSeq; NP_001269329.1; NM_001282400.1.
DR RefSeq; NP_001269330.1; NM_001282401.1.
DR RefSeq; XP_006724774.1; XM_006724711.3.
DR RefSeq; XP_016885393.1; XM_017029904.1.
DR AlphaFoldDB; Q5H9K5; -.
DR SMR; Q5H9K5; -.
DR BioGRID; 124094; 26.
DR IntAct; Q5H9K5; 7.
DR MINT; Q5H9K5; -.
DR STRING; 9606.ENSP00000361868; -.
DR iPTMnet; Q5H9K5; -.
DR PhosphoSitePlus; Q5H9K5; -.
DR BioMuta; ZMAT1; -.
DR DMDM; 74762181; -.
DR MassIVE; Q5H9K5; -.
DR MaxQB; Q5H9K5; -.
DR PaxDb; Q5H9K5; -.
DR PeptideAtlas; Q5H9K5; -.
DR PRIDE; Q5H9K5; -.
DR ProteomicsDB; 62892; -. [Q5H9K5-1]
DR ProteomicsDB; 62893; -. [Q5H9K5-2]
DR Antibodypedia; 539; 60 antibodies from 16 providers.
DR DNASU; 84460; -.
DR Ensembl; ENST00000372782.4; ENSP00000361868.3; ENSG00000166432.16.
DR Ensembl; ENST00000540921.5; ENSP00000437529.1; ENSG00000166432.16.
DR GeneID; 84460; -.
DR KEGG; hsa:84460; -.
DR UCSC; uc011mrl.3; human. [Q5H9K5-1]
DR CTD; 84460; -.
DR DisGeNET; 84460; -.
DR GeneCards; ZMAT1; -.
DR HGNC; HGNC:29377; ZMAT1.
DR HPA; ENSG00000166432; Low tissue specificity.
DR MIM; 301007; gene.
DR neXtProt; NX_Q5H9K5; -.
DR PharmGKB; PA134880461; -.
DR VEuPathDB; HostDB:ENSG00000166432; -.
DR eggNOG; ENOG502S5D7; Eukaryota.
DR HOGENOM; CLU_032533_1_0_1; -.
DR InParanoid; Q5H9K5; -.
DR OrthoDB; 1565630at2759; -.
DR PhylomeDB; Q5H9K5; -.
DR TreeFam; TF337202; -.
DR PathwayCommons; Q5H9K5; -.
DR SignaLink; Q5H9K5; -.
DR BioGRID-ORCS; 84460; 11 hits in 707 CRISPR screens.
DR ChiTaRS; ZMAT1; human.
DR GenomeRNAi; 84460; -.
DR Pharos; Q5H9K5; Tdark.
DR PRO; PR:Q5H9K5; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5H9K5; protein.
DR Bgee; ENSG00000166432; Expressed in right uterine tube and 161 other tissues.
DR ExpressionAtlas; Q5H9K5; baseline and differential.
DR Genevisible; Q5H9K5; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR InterPro; IPR003604; Matrin/U1-like-C_Znf_C2H2.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR SMART; SM00355; ZnF_C2H2; 3.
DR SMART; SM00451; ZnF_U1; 3.
DR SUPFAM; SSF57667; SSF57667; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Zinc; Zinc-finger.
FT CHAIN 1..638
FT /note="Zinc finger matrin-type protein 1"
FT /id="PRO_0000311348"
FT ZN_FING 56..86
FT /note="Matrin-type 1"
FT ZN_FING 121..151
FT /note="Matrin-type 2"
FT ZN_FING 172..206
FT /note="Matrin-type 3"
FT REGION 496..638
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 499..529
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 543..590
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 602..626
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..171
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_029533"
FT VARIANT 214
FT /note="R -> K (in dbSNP:rs17282855)"
FT /id="VAR_053766"
FT VARIANT 536
FT /note="Q -> R (in dbSNP:rs5944882)"
FT /evidence="ECO:0000269|PubMed:11347906,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_062159"
SQ SEQUENCE 638 AA; 74755 MW; D35B4FC2D112A87F CRC64;
MESCSVTRLE CSGAISAHCS LHLPGSSDSP ASASQIAGTT DAIWNEQEKA ELFTDKFCQV
CGVMLQFESQ RISHYEGEKH AQNVSFYFQM HGEQNEVPGK KMKMHVENFQ VHRYEGVDKN
KFCDLCNMMF SSPLIAQSHY VGKVHAKKLK QLMEEHDQAS PSGFQPEMAF SMRTYVCHIC
SIAFTSLDMF RSHMQGSEHQ IKESIVINLV KNSRKTQDSY QNECADYINV QKARGLEAKT
CFRKMEESSL ETRRYREVVD SRPRHRMFEQ RLPFETFRTY AAPYNISQAM EKQLPHSKKT
YDSFQDELED YIKVQKARGL DPKTCFRKMR ENSVDTHGYR EMVDSGPRSR MCEQRFSHEA
SQTYQRPYHI SPVESQLPQW LPTHSKRTYD SFQDELEDYI KVQKARGLEP KTCFRKIGDS
SVETHRNREM VDVRPRHRML EQKLPCETFQ TYSGPYSISQ VVENQLPHCL PAHDSKQRLD
SISYCQLTRD CFPEKPVPLS LNQQENNSGS YSVESEVYKH LSSENNTADH QAGHKQKHQK
RKRHLEEGKE RPEKEQSKHK RKKSYEDTDL DKDKSIRQRK REEDRVKVSS GKLKHRKKKK
SHDVPSEKEE RKHRKEKKKS VEERTEEEML WDESILGF
