MA7D2_HUMAN
ID MA7D2_HUMAN Reviewed; 732 AA.
AC Q96T17; B7Z2J8; B7Z3S7; B9EGC7; C9JMA4; C9JYW0; Q5EBN1; Q5JPS7; Q6PIC7;
AC Q8N792;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=MAP7 domain-containing protein 2;
GN Name=MAP7D2;
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] (ISOFORMS 1; 4 AND 5), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 67-732 (ISOFORM 3).
RC TISSUE=Brain, Teratocarcinoma, and Thalamus;
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 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] (ISOFORMS 1 AND 2), AND VARIANT
RP SER-182.
RC TISSUE=Liver, Lymph, and Testis;
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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1 (ISOFORM 5), AND IDENTIFICATION
RP 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).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] PRO-32.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q96T17-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96T17-2; Sequence=VSP_028492;
CC Name=3;
CC IsoId=Q96T17-3; Sequence=VSP_028490, VSP_028491, VSP_028493;
CC Name=4;
CC IsoId=Q96T17-4; Sequence=VSP_043337;
CC Name=5;
CC IsoId=Q96T17-5; Sequence=VSP_044657, VSP_044658;
CC -!- SIMILARITY: Belongs to the MAP7 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC05407.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK027409; BAB55093.1; -; mRNA.
DR EMBL; AK098768; BAC05407.1; ALT_INIT; mRNA.
DR EMBL; AK294788; BAH11884.1; -; mRNA.
DR EMBL; AK296319; BAH12313.1; -; mRNA.
DR EMBL; AL732366; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037165; AAH37165.1; -; mRNA.
DR EMBL; BC089400; AAH89400.1; -; mRNA.
DR EMBL; BC136379; AAI36380.1; -; mRNA.
DR CCDS; CCDS14195.1; -. [Q96T17-1]
DR CCDS; CCDS55384.1; -. [Q96T17-5]
DR CCDS; CCDS55385.1; -. [Q96T17-4]
DR CCDS; CCDS55386.1; -. [Q96T17-2]
DR RefSeq; NP_001161937.1; NM_001168465.1. [Q96T17-2]
DR RefSeq; NP_001161938.1; NM_001168466.1. [Q96T17-4]
DR RefSeq; NP_001161939.1; NM_001168467.1. [Q96T17-5]
DR RefSeq; NP_689993.2; NM_152780.3. [Q96T17-1]
DR AlphaFoldDB; Q96T17; -.
DR BioGRID; 129178; 76.
DR IntAct; Q96T17; 33.
DR MINT; Q96T17; -.
DR STRING; 9606.ENSP00000368964; -.
DR iPTMnet; Q96T17; -.
DR PhosphoSitePlus; Q96T17; -.
DR BioMuta; MAP7D2; -.
DR DMDM; 296434580; -.
DR EPD; Q96T17; -.
DR jPOST; Q96T17; -.
DR MassIVE; Q96T17; -.
DR MaxQB; Q96T17; -.
DR PeptideAtlas; Q96T17; -.
DR PRIDE; Q96T17; -.
DR ProteomicsDB; 12313; -.
DR ProteomicsDB; 78169; -. [Q96T17-1]
DR ProteomicsDB; 78170; -. [Q96T17-2]
DR ProteomicsDB; 78171; -. [Q96T17-3]
DR ProteomicsDB; 78172; -. [Q96T17-4]
DR Antibodypedia; 63281; 17 antibodies from 8 providers.
DR DNASU; 256714; -.
DR Ensembl; ENST00000379643.10; ENSP00000368964.5; ENSG00000184368.16. [Q96T17-2]
DR Ensembl; ENST00000379651.7; ENSP00000368972.3; ENSG00000184368.16. [Q96T17-1]
DR Ensembl; ENST00000443379.7; ENSP00000388239.3; ENSG00000184368.16. [Q96T17-4]
DR Ensembl; ENST00000452324.3; ENSP00000413301.3; ENSG00000184368.16. [Q96T17-5]
DR GeneID; 256714; -.
DR KEGG; hsa:256714; -.
DR MANE-Select; ENST00000379643.10; ENSP00000368964.5; NM_001168465.2; NP_001161937.1. [Q96T17-2]
DR UCSC; uc004czr.3; human. [Q96T17-1]
DR CTD; 256714; -.
DR DisGeNET; 256714; -.
DR GeneCards; MAP7D2; -.
DR HGNC; HGNC:25899; MAP7D2.
DR HPA; ENSG00000184368; Tissue enhanced (brain, epididymis).
DR neXtProt; NX_Q96T17; -.
DR OpenTargets; ENSG00000184368; -.
DR PharmGKB; PA162394971; -.
DR VEuPathDB; HostDB:ENSG00000184368; -.
DR eggNOG; ENOG502QTSG; Eukaryota.
DR GeneTree; ENSGT00950000182941; -.
DR HOGENOM; CLU_017315_1_0_1; -.
DR InParanoid; Q96T17; -.
DR OMA; LNTCQEI; -.
DR OrthoDB; 265189at2759; -.
DR PhylomeDB; Q96T17; -.
DR TreeFam; TF332273; -.
DR PathwayCommons; Q96T17; -.
DR SignaLink; Q96T17; -.
DR BioGRID-ORCS; 256714; 13 hits in 694 CRISPR screens.
DR ChiTaRS; MAP7D2; human.
DR GenomeRNAi; 256714; -.
DR Pharos; Q96T17; Tdark.
DR PRO; PR:Q96T17; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q96T17; protein.
DR Bgee; ENSG00000184368; Expressed in Brodmann (1909) area 23 and 133 other tissues.
DR Genevisible; Q96T17; HS.
DR GO; GO:0015630; C:microtubule cytoskeleton; IBA:GO_Central.
DR GO; GO:0000226; P:microtubule cytoskeleton organization; IBA:GO_Central.
DR InterPro; IPR008604; MAP7_fam.
DR Pfam; PF05672; MAP7; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..732
FT /note="MAP7 domain-containing protein 2"
FT /id="PRO_0000306809"
FT REGION 1..64
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 95..123
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 157..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 210..244
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 279..509
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 51..146
FT /evidence="ECO:0000255"
FT COMPBIAS 47..64
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 165..186
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 214..239
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..305
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 329..344
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 359..375
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 401..509
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..44
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044657"
FT VAR_SEQ 161
FT /note="D -> DGESENTPPPPLGLAASTLPPDAGTTAAAAESTN (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028490"
FT VAR_SEQ 162..206
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043337"
FT VAR_SEQ 198..201
FT /note="RVFH -> QAEG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028491"
FT VAR_SEQ 198
FT /note="R -> RAHHMHLSPMEAILVSRLLTPTQSSLARSRASVMLSGQANDS (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_028492"
FT VAR_SEQ 199..206
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044658"
FT VAR_SEQ 202..732
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_028493"
FT VARIANT 32
FT /note="A -> P (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035450"
FT VARIANT 182
FT /note="N -> S (in dbSNP:rs34519770)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035313"
FT CONFLICT 14
FT /note="P -> L (in Ref. 3; AAH89400)"
FT /evidence="ECO:0000305"
FT CONFLICT 423
FT /note="L -> V (in Ref. 1; BAB55093)"
FT /evidence="ECO:0000305"
FT CONFLICT 557
FT /note="S -> P (in Ref. 1; BAB55093)"
FT /evidence="ECO:0000305"
FT CONFLICT 590
FT /note="N -> S (in Ref. 1; BAH11884)"
FT /evidence="ECO:0000305"
FT MOD_RES Q96T17-5:1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
SQ SEQUENCE 732 AA; 81965 MW; 9F3C004D6942F08E CRC64;
MERGGGGSGT GSRPEGTARG TSLPGKIAEP GAVRTSQPNY RPQGMEGFLK SDERQRLAKE
RREEREKCLA AREQQILEKQ KRARLQYEKQ MEERWRKLEE QRQREDQKRA AVEEKRKQKL
REEEERLEAM MRRSLERTQQ LELKKKYSWG APLAIGPGGH DACDKLSTST MSLPKPTEPP
MNKRLSSSTV AISYSPDRVF HVCPRLAPLG PLNPSYKSSP TRNIEKKKAT STSTSGAGDV
GKEALSGGEA SLVEKVKRGQ RTATSLPVVN FGSPLRRCEF SGGIPKRPSS PVISKTATKA
YPQSPKTTKP PYPGSPVKYR LPALSGQDMP KRKAEKEKSN KEREGTLAQQ AAGPQGEEAL
EKHVVDKHAS EKHAAAAGGK AENSAALGKP TAGTTDAGEA AKILAEKRRQ ARLQKEQEEQ
ERLEKEEQDR LEREELKRKA EEERLRLEEE ARKQEEERKR QEEEKKKQEG EEKRKAGEEA
KRKAEEELLL KEKQEQEKQE KAMIEKQKEA AETKAREVAE QMRLEREQIM LQIEQERLER
KKRIDEIMKR TRKSDVSPQV KKEDPKVGVQ PAVCVEKKTK LVVPNKMEIN GLNTCQEVNG
VDHAAPETYP QDIFSNGLKP AGGLIHLDAL DGKSNSLDDS TEEVQSMDVS PVSKEELISI
PEFSPVSEMI PGVSLDQNGT GNARALQDLL DFTGPPTFPK RSSENLSLDD CNKNLIEGFN
SPGQETPLNT FC
