MRO2B_HUMAN
ID MRO2B_HUMAN Reviewed; 1585 AA.
AC Q7Z745; Q68DM1; Q7Z4U4; Q8N7X3;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Maestro heat-like repeat-containing protein family member 2B {ECO:0000312|HGNC:HGNC:26857};
DE AltName: Full=HEAT repeat-containing protein 7B2;
DE AltName: Full=Sperm PKA-interacting factor {ECO:0000250|UniProtKB:Q7M6Y6};
DE Short=SPIF {ECO:0000250|UniProtKB:Q7M6Y6};
GN Name=MROH2B {ECO:0000312|HGNC:HGNC:26857}; Synonyms=HEATR7B2;
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 VARIANTS ILE-496;
RP HIS-526 AND PRO-1179.
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS VAL-11;
RP ARG-191; ILE-496; HIS-526; ASN-617 AND PRO-1179.
RC TISSUE=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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 823-1585 (ISOFORM 1), AND VARIANT
RP PRO-1179.
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1049-1585 (ISOFORM 1), AND
RP VARIANT PRO-1179.
RA Guo J.H., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May play a role in the process of sperm capacitation.
CC {ECO:0000250|UniProtKB:Q7M6Y6}.
CC -!- SUBUNIT: Found in a complex at least composed of MROH2B, PRKACA isoform
CC 2 and TCP11. Interacts with PRKACA. Interacts with TCP11.
CC {ECO:0000250|UniProtKB:Q7M6Y6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q7M6Y6}.
CC Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q7M6Y6}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q7M6Y6}. Note=Colocalizes with PRKACA and TCP11
CC on the acrosome and tail regions in round spermatids and spermatozoa
CC regardless of the capacitation status of the sperm.
CC {ECO:0000250|UniProtKB:Q7M6Y6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q7Z745-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z745-2; Sequence=VSP_033361;
CC -!- PTM: Constitutively phosphorylated on serine and threonine residues in
CC acrosomal region of the sperm head, midpiece and flagellar regions of
CC noncapacitated spermatozoa. Phosphorylation on tyrosine residues
CC increases upon sperm capacitation within the acrosomal and tail regions
CC in a protein kinase A (PKA)-dependent signaling pathway.
CC {ECO:0000250|UniProtKB:Q7M6Y6}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP97306.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC05103.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; CR749346; CAH18199.1; -; mRNA.
DR EMBL; AC114967; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC052962; AAH52962.1; -; mRNA.
DR EMBL; AK097562; BAC05103.1; ALT_INIT; mRNA.
DR EMBL; AF432068; AAP97306.1; ALT_FRAME; mRNA.
DR CCDS; CCDS47202.1; -. [Q7Z745-1]
DR RefSeq; NP_775760.3; NM_173489.4. [Q7Z745-1]
DR AlphaFoldDB; Q7Z745; -.
DR BioGRID; 126362; 4.
DR IntAct; Q7Z745; 2.
DR STRING; 9606.ENSP00000382476; -.
DR iPTMnet; Q7Z745; -.
DR PhosphoSitePlus; Q7Z745; -.
DR BioMuta; MROH2B; -.
DR DMDM; 296453066; -.
DR jPOST; Q7Z745; -.
DR MassIVE; Q7Z745; -.
DR PaxDb; Q7Z745; -.
DR PeptideAtlas; Q7Z745; -.
DR PRIDE; Q7Z745; -.
DR ProteomicsDB; 69484; -. [Q7Z745-1]
DR ProteomicsDB; 69485; -. [Q7Z745-2]
DR Antibodypedia; 56251; 19 antibodies from 6 providers.
DR DNASU; 133558; -.
DR Ensembl; ENST00000399564.5; ENSP00000382476.4; ENSG00000171495.17. [Q7Z745-1]
DR GeneID; 133558; -.
DR KEGG; hsa:133558; -.
DR MANE-Select; ENST00000399564.5; ENSP00000382476.4; NM_173489.5; NP_775760.3.
DR UCSC; uc003jmj.5; human. [Q7Z745-1]
DR CTD; 133558; -.
DR GeneCards; MROH2B; -.
DR HGNC; HGNC:26857; MROH2B.
DR HPA; ENSG00000171495; Tissue enriched (testis).
DR neXtProt; NX_Q7Z745; -.
DR OpenTargets; ENSG00000171495; -.
DR PharmGKB; PA164720440; -.
DR VEuPathDB; HostDB:ENSG00000171495; -.
DR eggNOG; KOG2032; Eukaryota.
DR GeneTree; ENSGT00940000161231; -.
DR HOGENOM; CLU_003168_1_0_1; -.
DR InParanoid; Q7Z745; -.
DR OMA; HREDFCE; -.
DR PhylomeDB; Q7Z745; -.
DR TreeFam; TF315201; -.
DR PathwayCommons; Q7Z745; -.
DR SignaLink; Q7Z745; -.
DR BioGRID-ORCS; 133558; 6 hits in 1062 CRISPR screens.
DR GenomeRNAi; 133558; -.
DR Pharos; Q7Z745; Tdark.
DR PRO; PR:Q7Z745; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q7Z745; protein.
DR Bgee; ENSG00000171495; Expressed in sperm and 74 other tissues.
DR ExpressionAtlas; Q7Z745; baseline and differential.
DR Genevisible; Q7Z745; HS.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; ISS:UniProtKB.
DR GO; GO:0097225; C:sperm midpiece; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0010737; P:protein kinase A signaling; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR045206; Maestro_heat-like_prot.
DR PANTHER; PTHR23120; PTHR23120; 1.
DR SUPFAM; SSF48371; SSF48371; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm;
KW Cytoplasmic vesicle; Differentiation; Flagellum; Reference proteome;
KW Repeat; Spermatogenesis.
FT CHAIN 1..1585
FT /note="Maestro heat-like repeat-containing protein family
FT member 2B"
FT /id="PRO_0000332243"
FT REPEAT 28..65
FT /note="HEAT 1"
FT REPEAT 228..263
FT /note="HEAT 2"
FT REPEAT 272..309
FT /note="HEAT 3"
FT REPEAT 310..346
FT /note="HEAT 4"
FT REPEAT 405..445
FT /note="HEAT 5"
FT REPEAT 531..569
FT /note="HEAT 6"
FT REPEAT 572..611
FT /note="HEAT 7"
FT REPEAT 662..699
FT /note="HEAT 8"
FT REPEAT 777..819
FT /note="HEAT 9"
FT REPEAT 964..1001
FT /note="HEAT 10"
FT REPEAT 1021..1059
FT /note="HEAT 11"
FT REPEAT 1112..1151
FT /note="HEAT 12"
FT REPEAT 1157..1195
FT /note="HEAT 13"
FT REPEAT 1258..1295
FT /note="HEAT 14"
FT REPEAT 1363..1402
FT /note="HEAT 15"
FT VAR_SEQ 1..296
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_033361"
FT VARIANT 11
FT /note="M -> V (in dbSNP:rs13174484)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042983"
FT VARIANT 191
FT /note="W -> R (in dbSNP:rs865093)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042984"
FT VARIANT 263
FT /note="L -> I (in dbSNP:rs10045243)"
FT /id="VAR_042985"
FT VARIANT 468
FT /note="E -> V (in dbSNP:rs17198125)"
FT /id="VAR_042986"
FT VARIANT 496
FT /note="V -> I (in dbSNP:rs325864)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_042987"
FT VARIANT 526
FT /note="R -> H (in dbSNP:rs13173930)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_042988"
FT VARIANT 617
FT /note="K -> N (in dbSNP:rs17854768)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042989"
FT VARIANT 648
FT /note="D -> V (in dbSNP:rs16870720)"
FT /id="VAR_042990"
FT VARIANT 781
FT /note="M -> V (in dbSNP:rs10067611)"
FT /id="VAR_042991"
FT VARIANT 918
FT /note="N -> K (in dbSNP:rs10054110)"
FT /id="VAR_042992"
FT VARIANT 1179
FT /note="L -> P (in dbSNP:rs2271704)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.5"
FT /id="VAR_042993"
FT CONFLICT 624
FT /note="A -> V (in Ref. 1; CAH18199)"
FT /evidence="ECO:0000305"
FT CONFLICT 897
FT /note="L -> P (in Ref. 4; BAC05103)"
FT /evidence="ECO:0000305"
FT CONFLICT 1059
FT /note="V -> L (in Ref. 5; AAP97306)"
FT /evidence="ECO:0000305"
FT CONFLICT 1072
FT /note="E -> D (in Ref. 5; AAP97306)"
FT /evidence="ECO:0000305"
FT CONFLICT 1424
FT /note="I -> T (in Ref. 1; CAH18199 and 5; AAP97306)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1585 AA; 180781 MW; A57EF4E9DC182FAD CRC64;
MTLSTEESIE MFGDINLTLG MLNKEDIVNK EDIYSHLTSV IQNTDILDDA IVQRLIYYAS
KDMRDNNMLR EIRMLAGEVL VSLAAHDFNS VMYEVQSNFR ILELPDEFVV LALAELATSY
VSQSIPFMMM TLLTMQTMLR LAEDERMKGT FCIALEKFSK AIYKYVNHWR DFPYPRLDAN
RLSDKIFMLF WYIMEKWAPL ASPMQTLSIV KAHGPTVSLL LHREDFRGYA LGQVPWLLNQ
YKDKEIDFHV TQSLKQILTA AVLYDIGLPR SLRRSIFINL LQQICRAPEP PVKENEMKAS
SCFLILAHSN PGELMEFFDE QVRSNNEAIR VGILTLLRLA VNADEPRLRD HIISIERTVK
IVMGDLSTKV RNSVLLLIQT MCEKSYIEAR EGWPLIDYVF SQFATLNRNL EKPVKTNFHE
NEKEEESVRE TSLEVLKTLD PLVIGMPQVL WPRILTFVVP AEYTEALEPL FSIIRILIMA
EEKKQHSAKE STALVVSTGA VKLPSPQQLL ARLLVISMPA SLGELRGAGA IGLLKILPEI
IHPKLVDLWK TRLPELLQPL EGKNISTVLW ETMLLQLLKE SLWKISDVAW TIQLTQDFKQ
QMGSYSNNST EKKFLWKALG TTLACCQDSD FVNSQIKEFL TAPNQLGDQR QGITSILGYC
AENHLDIVLK VLKTFQNQEK FFMNRCKSLF SGKKSLTKTD VMVIYGAVAL HAPKKQLLSR
LNQDIISQVL SLHGQCSQVL GMSVMNKDMD LQMSFTRSIT EIGIAVQDAE DQGFQFSYKE
MLIGYMLDFI RDEPLDSLAS PIRWKALIAI RYLSKLKPQL SLQDHLNILE ENIRRLLPLP
PLENLKSEGQ TDKDKEHIQF LYERSMDALG KLLKTMMWDN VNAEDCQEMF NLLQMWLVSQ
KEWERERAFQ ITAKVLTNDI EAPENFKIGS LLGLLAPHSC DTLPTIRQAA ASSTIGLFYI
KGIHLEVERL QGLQEGLESD DVQVQIKISS KIAKIVSKFI PNEEILMFLE EMLDGLESLN
PTCTKACGIW MITVLKQQGA ALEDQLLEIL GTIYHHMPVL RQKEESFQFI LEAISQIASF
HMDTVVVNLL QKPLPFDRDT KTLWKALAEK PASSGKLLQA LIDKLETELE DDIARVEAIS
VACAMYEVIS MGTSVTGLYP ELFTLLLKLV SCTLGQKMLT CPWSHRRHVM QQGEQQQIPD
PCRLSTATLK CLQAQAMREG LAKESDEGDN LWTLLSSPST HHIGVCSLAR SMAVWQHGVI
LDIMEQLLSS LTSSSENYRI TGAAFFSELM KEPILWKHGN LRNVLILMDQ SAWDSNATLR
QMAIRGLGNT ASGAPHKVKK HKQLMLESII RGLYHLARTE VVCESLKALK KILELLTDRD
VSFYFKEIVL QTRTFFEDEQ DDVRLTAIFL FEDLAPLTGR RWKIFFAEEI KKSLISFLLH
LWDPNPKIGV ACRDVLMVCI PFLGLQELYG VLDRLLDQDL PRARDFYRQF CVKLAKKNQE
ILWILHTHSF TFFTSTWEVI RSAAVKLTDA VVLNLTSQYV ELLDREQLTT RLQALRQDPC
ISVQRAAEAA LQTLLRRCKE TSIPL
