MYBPP_HUMAN
ID MYBPP_HUMAN Reviewed; 947 AA.
AC Q8TBZ2; A6NHJ3; Q8TDV8; Q9H0K0;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-SEP-2007, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=MYCBP-associated protein;
DE AltName: Full=AMAM-1;
DE AltName: Full=AMY-1-binding protein 1;
DE Short=AMAP-1;
GN Name=MYCBPAP {ECO:0000312|EMBL:AAH28393.1};
GN Synonyms=AMAP1 {ECO:0000312|EMBL:BAB88692.1};
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] {ECO:0000305, ECO:0000312|EMBL:BAB88692.1}
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH MYCBP, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Testis {ECO:0000312|EMBL:BAB88692.1};
RX PubMed=12151104; DOI=10.1016/s0167-4781(02)00411-6;
RA Yukitake H., Furusawa M., Taira T., Iguchi-Ariga S.M.M., Ariga H.;
RT "AMAP-1, a novel testis-specific AMY-1-binding protein, is differentially
RT expressed during the course of spermatogenesis.";
RL Biochim. Biophys. Acta 1577:126-132(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3] {ECO:0000305, ECO:0000312|EMBL:AAH28393.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS THR-387; TRP-688 AND
RP ARG-910.
RC TISSUE=Testis {ECO:0000312|EMBL:AAH28393.1};
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] {ECO:0000305, ECO:0000312|EMBL:CAB66699.2}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-947, AND VARIANTS THR-387 AND
RP ARG-910.
RC TISSUE=Testis {ECO:0000312|EMBL:CAB66699.2};
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
CC -!- FUNCTION: May play a role in spermatogenesis. May be involved in
CC synaptic processes (By similarity). {ECO:0000250|UniProtKB:Q69CM7,
CC ECO:0000269|PubMed:12151104}.
CC -!- SUBUNIT: Interacts with MYCBP. {ECO:0000269|PubMed:12151104}.
CC -!- INTERACTION:
CC Q8TBZ2; Q99417: MYCBP; NbExp=4; IntAct=EBI-1391585, EBI-716185;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12151104}. Membrane
CC {ECO:0000250|UniProtKB:Q69CM7}. Note=Colocalizes with MYCBP in the
CC cytoplasm. {ECO:0000250|UniProtKB:Q69CM7, ECO:0000269|PubMed:12151104}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in testis.
CC {ECO:0000269|PubMed:12151104}.
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DR EMBL; AB083068; BAB88692.1; -; mRNA.
DR EMBL; AC021491; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028393; AAH28393.1; -; mRNA.
DR EMBL; AL136765; CAB66699.2; -; mRNA.
DR RefSeq; NP_115509.4; NM_032133.4.
DR AlphaFoldDB; Q8TBZ2; -.
DR SMR; Q8TBZ2; -.
DR BioGRID; 123868; 29.
DR IntAct; Q8TBZ2; 6.
DR MINT; Q8TBZ2; -.
DR STRING; 9606.ENSP00000323184; -.
DR iPTMnet; Q8TBZ2; -.
DR PhosphoSitePlus; Q8TBZ2; -.
DR BioMuta; MYCBPAP; -.
DR DMDM; 158563934; -.
DR MassIVE; Q8TBZ2; -.
DR PaxDb; Q8TBZ2; -.
DR PeptideAtlas; Q8TBZ2; -.
DR PRIDE; Q8TBZ2; -.
DR ProteomicsDB; 74056; -.
DR TopDownProteomics; Q8TBZ2; -.
DR Antibodypedia; 45319; 52 antibodies from 14 providers.
DR DNASU; 84073; -.
DR Ensembl; ENST00000323776.11; ENSP00000323184.6; ENSG00000136449.15.
DR Ensembl; ENST00000436259.6; ENSP00000397209.2; ENSG00000136449.15.
DR GeneID; 84073; -.
DR KEGG; hsa:84073; -.
DR UCSC; uc010wmr.3; human.
DR CTD; 84073; -.
DR DisGeNET; 84073; -.
DR GeneCards; MYCBPAP; -.
DR HGNC; HGNC:19677; MYCBPAP.
DR HPA; ENSG00000136449; Tissue enriched (testis).
DR MIM; 609835; gene.
DR neXtProt; NX_Q8TBZ2; -.
DR PharmGKB; PA134886355; -.
DR VEuPathDB; HostDB:ENSG00000136449; -.
DR eggNOG; ENOG502QT8X; Eukaryota.
DR HOGENOM; CLU_014509_0_0_1; -.
DR InParanoid; Q8TBZ2; -.
DR OrthoDB; 650849at2759; -.
DR PhylomeDB; Q8TBZ2; -.
DR TreeFam; TF329788; -.
DR PathwayCommons; Q8TBZ2; -.
DR SignaLink; Q8TBZ2; -.
DR BioGRID-ORCS; 84073; 21 hits in 1062 CRISPR screens.
DR GenomeRNAi; 84073; -.
DR Pharos; Q8TBZ2; Tbio.
DR PRO; PR:Q8TBZ2; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8TBZ2; protein.
DR Bgee; ENSG00000136449; Expressed in left testis and 98 other tissues.
DR ExpressionAtlas; Q8TBZ2; baseline and differential.
DR Genevisible; Q8TBZ2; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007268; P:chemical synaptic transmission; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEP:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR032707; MYCBPAP.
DR Pfam; PF14646; MYCBPAP; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Differentiation; Membrane;
KW Phosphoprotein; Reference proteome; Spermatogenesis.
FT CHAIN 1..947
FT /note="MYCBP-associated protein"
FT /id="PRO_0000302877"
FT REGION 1..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 181..204
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 656..692
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 805..880
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 822..879
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 576
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q69CM7"
FT MOD_RES 582
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q69CM7"
FT VARIANT 387
FT /note="A -> T (in dbSNP:rs1380657)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_035003"
FT VARIANT 688
FT /note="R -> W (in dbSNP:rs9890721)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035004"
FT VARIANT 910
FT /note="S -> R (in dbSNP:rs1133818)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_035005"
SQ SEQUENCE 947 AA; 108153 MW; D3AB62D00F5621A1 CRC64;
MVPGGTMKSL KKDSRLRITP TRLLEASENV KEKKRAKGPE QPTPTIQEEP EPVSNVLQGD
DILALAIKKE DLKEQHIPRL TEKEDKRVIT QKFIIRKLKP MDPRRKVCHL VARPANPDEA
TKPLDYSGPG DSFDGSDQIL PHHILGSLQD FKRIALARGN TQLAERIPTS PCLMTLISAE
GESKQKAPKE EKRPPWAPPP QHNFLKNWQR NTALRKKQQE ALSEHLKKPV SELLMHTGET
YRRIQEEREL IDCTLPTRRD RKSWENSGFW SRLEYLGDEM TGLVMTKTKT QRGLMEPITH
IRKPHSIRVE TGLPAQRDAS YRYTWDRSLF LIYRRKELQR IMEELDFSQQ DIDGLEVVGK
GWPFSAVTVE DYTVFERSQG SSSEDTAYLG TLASSSDVSM PILGPSLLFC GKPACWIRGS
NPQDKRQVGI AAHLTFETLE GEKTSSELTV VNNGTVAIWY DWRRQHQPDT FQDLKKNRMQ
RFYFDNREGV ILPGEIKTFT FFFKSLTAGV FREFWEFRTH PTLLGGAILQ VNLHAVSLTQ
DVFEDERKVL ESKLTAHEAV TVVREVLQEL LMGVLTPERT PSPVDAYLTE EDLFRHRNPP
LHYEHQVVQS LHQLWRQYMT LPAKAEEARP GDKEHVSPIA TEKASVNAEL LPRFRSPISE
TQVPRPENEA LRESGSQKAR VGTKSPQRKS IMEEILVEES PDVDSTKSPW EPDGLPLLEW
NLCLEDFRKA VMVLPDENHR EDALMRLNKA ALELCQKPRP LQSNLLHQMC LQLWRDVIDS
LVGHSMWLRS VLGLPEKETI YLNVPEEQDQ KSPPIMEVKV PVGKAGKEER KGAAQEKKQL
GIKDKEDKKG AKLLGKEDRP NSKKHKAKDD KKVIKSASQD RFSLEDPTPD IILSSQEPID
PLVMGKYTQS LHSEVRGLLD TLVTDLMVLA DELSPIKNVE EALRLCR
