MSS51_HUMAN
ID MSS51_HUMAN Reviewed; 460 AA.
AC Q4VC12; A6NGH6; Q2VP95; Q5F2H5; Q7Z3M9; Q8N8G0;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Putative protein MSS51 homolog, mitochondrial;
DE AltName: Full=Zinc finger MYND domain-containing protein 17;
GN Name=MSS51; Synonyms=ZMYND17;
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).
RC TISSUE=Skeletal muscle;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Fetal 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).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Muscle;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC Q4VC12; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-11599933, EBI-745073;
CC Q4VC12; P55273: CDKN2D; NbExp=3; IntAct=EBI-11599933, EBI-745859;
CC Q4VC12; P40199: CEACAM6; NbExp=5; IntAct=EBI-11599933, EBI-4314501;
CC Q4VC12; Q9NSA3: CTNNBIP1; NbExp=3; IntAct=EBI-11599933, EBI-747082;
CC Q4VC12; P59910: DNAJB13; NbExp=3; IntAct=EBI-11599933, EBI-11514233;
CC Q4VC12; Q86UW9: DTX2; NbExp=3; IntAct=EBI-11599933, EBI-740376;
CC Q4VC12; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11599933, EBI-6658203;
CC Q4VC12; P55040: GEM; NbExp=3; IntAct=EBI-11599933, EBI-744104;
CC Q4VC12; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-11599933, EBI-748420;
CC Q4VC12; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-11599933, EBI-2556193;
CC Q4VC12; P25800: LMO1; NbExp=3; IntAct=EBI-11599933, EBI-8639312;
CC Q4VC12; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-11599933, EBI-14086479;
CC Q4VC12; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-11599933, EBI-79165;
CC Q4VC12; P0CG20: PRR35; NbExp=3; IntAct=EBI-11599933, EBI-11986293;
CC Q4VC12; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-11599933, EBI-748391;
CC Q4VC12; Q2TAY7: SMU1; NbExp=3; IntAct=EBI-11599933, EBI-298027;
CC Q4VC12; Q96RF0: SNX18; NbExp=3; IntAct=EBI-11599933, EBI-298169;
CC Q4VC12; Q92734: TFG; NbExp=3; IntAct=EBI-11599933, EBI-357061;
CC Q4VC12; Q08117-2: TLE5; NbExp=3; IntAct=EBI-11599933, EBI-11741437;
CC Q4VC12; Q9H0E2: TOLLIP; NbExp=3; IntAct=EBI-11599933, EBI-74615;
CC Q4VC12; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-11599933, EBI-10241197;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q4VC12-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q4VC12-2; Sequence=VSP_025898, VSP_025899;
CC Name=3;
CC IsoId=Q4VC12-3; Sequence=VSP_025898, VSP_025899, VSP_025900,
CC VSP_025901;
CC -!- CAUTION: Although no clear MSS51 ortholog is encoded in mammalian
CC genomes, the mammalian MSS51/ZMYND17 protein is significantly similar.
CC Considered by a number of resources to be the ortholog of yeast MSS51.
CC {ECO:0000305}.
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DR EMBL; AK096884; BAC04883.1; -; mRNA.
DR EMBL; BX537678; CAD97808.1; -; mRNA.
DR EMBL; AL353731; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC094693; AAH94693.1; -; mRNA.
DR EMBL; BC109255; AAI09256.1; -; mRNA.
DR EMBL; BC109256; AAI09257.1; -; mRNA.
DR CCDS; CCDS31221.1; -. [Q4VC12-1]
DR RefSeq; NP_001019764.1; NM_001024593.1. [Q4VC12-1]
DR AlphaFoldDB; Q4VC12; -.
DR BioGRID; 125613; 25.
DR IntAct; Q4VC12; 24.
DR STRING; 9606.ENSP00000299432; -.
DR BioMuta; MSS51; -.
DR DMDM; 152143027; -.
DR PaxDb; Q4VC12; -.
DR PeptideAtlas; Q4VC12; -.
DR PRIDE; Q4VC12; -.
DR Antibodypedia; 29415; 104 antibodies from 18 providers.
DR DNASU; 118490; -.
DR Ensembl; ENST00000299432.7; ENSP00000299432.2; ENSG00000166343.10. [Q4VC12-1]
DR Ensembl; ENST00000372912.1; ENSP00000362003.1; ENSG00000166343.10. [Q4VC12-1]
DR GeneID; 118490; -.
DR KEGG; hsa:118490; -.
DR MANE-Select; ENST00000299432.7; ENSP00000299432.2; NM_001024593.2; NP_001019764.1.
DR UCSC; uc001jud.4; human. [Q4VC12-1]
DR CTD; 118490; -.
DR DisGeNET; 118490; -.
DR GeneCards; MSS51; -.
DR HGNC; HGNC:21000; MSS51.
DR HPA; ENSG00000166343; Tissue enriched (skeletal).
DR MIM; 614773; gene.
DR neXtProt; NX_Q4VC12; -.
DR OpenTargets; ENSG00000166343; -.
DR PharmGKB; PA134886837; -.
DR VEuPathDB; HostDB:ENSG00000166343; -.
DR eggNOG; ENOG502QVEJ; Eukaryota.
DR GeneTree; ENSGT00940000153820; -.
DR HOGENOM; CLU_047718_0_0_1; -.
DR InParanoid; Q4VC12; -.
DR OMA; ANPFMSL; -.
DR OrthoDB; 550249at2759; -.
DR PhylomeDB; Q4VC12; -.
DR TreeFam; TF330829; -.
DR PathwayCommons; Q4VC12; -.
DR SignaLink; Q4VC12; -.
DR BioGRID-ORCS; 118490; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; MSS51; human.
DR GenomeRNAi; 118490; -.
DR Pharos; Q4VC12; Tbio.
DR PRO; PR:Q4VC12; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q4VC12; protein.
DR Bgee; ENSG00000166343; Expressed in vastus lateralis and 106 other tissues.
DR ExpressionAtlas; Q4VC12; baseline and differential.
DR Genevisible; Q4VC12; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR InterPro; IPR002893; Znf_MYND.
DR Pfam; PF01753; zf-MYND; 1.
DR PROSITE; PS01360; ZF_MYND_1; 1.
DR PROSITE; PS50865; ZF_MYND_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Reference proteome; Zinc; Zinc-finger.
FT CHAIN 1..460
FT /note="Putative protein MSS51 homolog, mitochondrial"
FT /id="PRO_0000289109"
FT ZN_FING 105..149
FT /note="MYND-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 105
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 108
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 124
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 127
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 133
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 137
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 145
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 149
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT VAR_SEQ 1..221
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_025898"
FT VAR_SEQ 222..309
FT /note="RPDPDVLQGSLKRLLTDVLSRPLTLGLGLRALGIDVRRTGGSTVHVVGASHV
FT ETFLTRPGDYDELGYMFPGHLGLRVVMVGVDVATGF -> MGVPPYQALDFDVLKKCSR
FT GWKTHFDSVLTVEHSLVGFQTPRFSGTVRGAEMSITVVQSARSQTGPHTGGFVKSFVLW
FT LWTVSWNGFW (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_025899"
FT VAR_SEQ 310..316
FT /note="SQSTSTS -> SQVEWWC (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_025900"
FT VAR_SEQ 317..460
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_025901"
FT VARIANT 417
FT /note="L -> P (in dbSNP:rs11591720)"
FT /id="VAR_052993"
FT CONFLICT 409
FT /note="F -> V (in Ref. 4; AAH94693)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 460 AA; 51289 MW; 045C9C9CAE0FD639 CRC64;
MAPRSRRRRH KKPPSSVAPI IMAPTTIVTP VPLTPSKPGP SIDTLGFFSL DDNVPGLSQL
ILQKLNMKSY EEYKLVVDGG TPVSGFGFRC PQEMFQRMED TFRFCAHCRA LPSGLSDSKV
LRHCKRCRNV YYCGPECQKS DWPAHRRVCQ ELRLVAVDRL MEWLLVTGDF VLPSGPWPWP
PEAVQDWDSW FSMKGLHLDA TLDAVLVSHA VTTLWASVGR PRPDPDVLQG SLKRLLTDVL
SRPLTLGLGL RALGIDVRRT GGSTVHVVGA SHVETFLTRP GDYDELGYMF PGHLGLRVVM
VGVDVATGFS QSTSTSPLEP GTIQLSAHRG LYHDFWEEQV ETGQTHHPDL VAAFHPGFHS
SPDLMEAWLP TLLLLRDYKI PTLITVYSHQ ELVSSLQILV ELDTHITAFG SNPFMSLKPE
QVYSSPNKQP VYCSAYYIMF LGSSCQLDNR QLEEKVDGGI
