PMFBP_MOUSE
ID PMFBP_MOUSE Reviewed; 1022 AA.
AC Q9WVQ0;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 112.
DE RecName: Full=Polyamine-modulated factor 1-binding protein 1;
DE Short=PMF-1-binding protein;
DE AltName: Full=Sperm tail-associated protein;
GN Name=Pmfbp1; Synonyms=Stap;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, AND SUBCELLULAR
RP LOCATION.
RC TISSUE=Testis;
RX PubMed=11468771; DOI=10.1002/mrd.1041;
RA Ohuchi J., Arai T., Kon Y., Asano A., Yamauchi H., Watanabe T.;
RT "Characterization of a novel gene, sperm-tail-associated protein (Stap), in
RT mouse post-meiotic testicular germ cells.";
RL Mol. Reprod. Dev. 59:350-358(2001).
RN [2]
RP FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND SUBCELLULAR
RP LOCATION.
RX PubMed=30032984; DOI=10.1016/j.ajhg.2018.06.010;
RA Zhu F., Liu C., Wang F., Yang X., Zhang J., Wu H., Zhang Z., He X.,
RA Zhang Z., Zhou P., Wei Z., Shang Y., Wang L., Zhang R., Ouyang Y.C.,
RA Sun Q.Y., Cao Y., Li W.;
RT "Mutations in PMFBP1 cause acephalic spermatozoa syndrome.";
RL Am. J. Hum. Genet. 103:188-199(2018).
RN [3]
RP FUNCTION, DISRUPTION PHENOTYPE, AND SUBCELLULAR LOCATION.
RX PubMed=30298696; DOI=10.1111/cge.13461;
RA Sha Y.W., Wang X., Xu X., Ding L., Liu W.S., Li P., Su Z.Y., Chen J.,
RA Mei L.B., Zheng L.K., Wang H.L., Kong S.B., You M., Wu J.F.;
RT "Biallelic mutations in PMFBP1 cause acephalic spermatozoa.";
RL Clin. Genet. 95:277-286(2019).
CC -!- FUNCTION: Required for normal spermatogenesis (PubMed:30032984,
CC PubMed:30298696). It functions as a scaffold protein that attaches the
CC sperm head-tail connecting piece to the nuclear envelope, thus
CC maintaining sperm head and tail integrity (PubMed:30032984). May also
CC be involved in the general organization of cellular cytoskeleton.
CC {ECO:0000269|PubMed:11468771, ECO:0000269|PubMed:30032984,
CC ECO:0000269|PubMed:30298696}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:11468771, ECO:0000269|PubMed:30032984,
CC ECO:0000269|PubMed:30298696}. Note=Localized at the sperm head-tail
CC connecting piece (PubMed:30032984, PubMed:30298696). During
CC spermatogenesis, it is first observed in the cytoplasm of round
CC spermatids, it later appears in the implantation fossa region of the
CC sperm nucleus during sperm head elongation and differentiation, and
CC finally it localizes to the head-tail connecting piece
CC (PubMed:30032984). {ECO:0000269|PubMed:30032984,
CC ECO:0000269|PubMed:30298696}.
CC -!- TISSUE SPECIFICITY: Expressed in the testis.
CC {ECO:0000269|PubMed:11468771, ECO:0000269|PubMed:30032984}.
CC -!- DISRUPTION PHENOTYPE: Knockout male mice are infertile and have
CC acephalic spermatozoa, while females are fertile and show normal
CC follicle development. {ECO:0000269|PubMed:30032984,
CC ECO:0000269|PubMed:30298696}.
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DR EMBL; AB029919; BAA82514.1; -; mRNA.
DR CCDS; CCDS40468.1; -.
DR RefSeq; NP_064322.1; NM_019938.3.
DR RefSeq; XP_006531277.1; XM_006531214.3.
DR AlphaFoldDB; Q9WVQ0; -.
DR SMR; Q9WVQ0; -.
DR STRING; 10090.ENSMUSP00000034162; -.
DR iPTMnet; Q9WVQ0; -.
DR PhosphoSitePlus; Q9WVQ0; -.
DR MaxQB; Q9WVQ0; -.
DR PaxDb; Q9WVQ0; -.
DR PRIDE; Q9WVQ0; -.
DR ProteomicsDB; 289550; -.
DR Antibodypedia; 1776; 92 antibodies from 20 providers.
DR DNASU; 56523; -.
DR Ensembl; ENSMUST00000034162; ENSMUSP00000034162; ENSMUSG00000031727.
DR GeneID; 56523; -.
DR KEGG; mmu:56523; -.
DR UCSC; uc009nii.2; mouse.
DR CTD; 83449; -.
DR MGI; MGI:1930136; Pmfbp1.
DR VEuPathDB; HostDB:ENSMUSG00000031727; -.
DR eggNOG; ENOG502QUDT; Eukaryota.
DR GeneTree; ENSGT00390000012700; -.
DR HOGENOM; CLU_012841_0_0_1; -.
DR InParanoid; Q9WVQ0; -.
DR OMA; SKYNASQ; -.
DR PhylomeDB; Q9WVQ0; -.
DR TreeFam; TF336266; -.
DR BioGRID-ORCS; 56523; 1 hit in 74 CRISPR screens.
DR ChiTaRS; Pmfbp1; mouse.
DR PRO; PR:Q9WVQ0; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q9WVQ0; protein.
DR Bgee; ENSMUSG00000031727; Expressed in seminiferous tubule of testis and 29 other tissues.
DR ExpressionAtlas; Q9WVQ0; baseline and differential.
DR Genevisible; Q9WVQ0; MM.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0097224; C:sperm connecting piece; IDA:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IMP:UniProtKB.
DR InterPro; IPR037391; PMF1-bd.
DR PANTHER; PTHR18881; PTHR18881; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium; Coiled coil; Flagellum; Reference proteome.
FT CHAIN 1..1022
FT /note="Polyamine-modulated factor 1-binding protein 1"
FT /id="PRO_0000304620"
FT REGION 545..582
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 89..121
FT /evidence="ECO:0000255"
FT COILED 169..281
FT /evidence="ECO:0000255"
FT COILED 312..377
FT /evidence="ECO:0000255"
FT COILED 411..732
FT /evidence="ECO:0000255"
FT COILED 758..968
FT /evidence="ECO:0000255"
FT COMPBIAS 545..564
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 1022 AA; 119401 MW; 4C41FE64AFCD984A CRC64;
MLKLKGELRT AKGLKNEAGE RDRDVSNLNS KLLSLQLDIK NLHDVCKRQG KTLQENQLCV
EEAMLKANHN KKQAQTLVFT DNQMDFRVNK QYHLRQLQQL KKKLLTLQQE LEFRTQELQA
SYCSLLQYQS ILEKQTSDLL VLHRHCKLKE DEVILYEEEM GNHSKSTGEK LHLAQEQLAL
AGDKILSLER SLNLYRDKYQ TSLSNIELLE CQVKMLEGEL SGLIGQDPEN KGDHPKVRIY
TSPCVIQEHQ ETLKRLSEVW QKVSEQDDLI QELRNKLACS NSLVLEREEA LIKLQAEFAS
YTATHRHPPT SSEDCEDITK ILKHLQEQKD SQCLHVEEYQ NLVKDLRMEL EAVSEQKKKI
MKDMMKLELD LHGLREETSC VIEKKDKETV FLQYRLQDLQ QQYTESQKLS LKKDKLLQDK
DERLHELEKN LMQVQNSLRE KEAELEKLQC TTKELDTSLQ EARQSTSKID CEALRAEIQK
LKDSLEEARE QLKVSDQNLT QSKEEAHLSA SSLEDAHRKI ENCLLQDKQK EEVIKDLQSQ
LHKLQKESSK IEEERKHNRQ RLQELSSELS EGQRRLSNAE KEKSLLQKTL DEDEKKIDEL
FHSTQVSEQK QRELTNSIRK LEEELLEIKG LLEEKREQLK KSKEQEKALE EEIEALRQEA
KRKEKMAKEH LRKLDEEKEN LQAELTSRSS HLDSSLNKYN SSQKVIQELN AEIARQKDSI
MILQTQLDSA IQKEKNCFQN MVSKEAYEEL VRKSGNCQDD LTQALEKLTQ ATSETKSLNR
SLQQTQERKA QLEDEIAAYE ERMKKLNMEL KKLQGFQQQS EQEVHNFDKK LEEMSNQVLQ
WQRQHQSDLK MLAAKESQLR EFQEEMATLR ESLLADEKEP YSPPAKLTPK ETCRHHREND
QIMNNVEQWA KEQKIANEKL GNKLREQVKY IAKLTGEKDH LHNVMVHLQQ ENKKLKNEIE
EKKLKAGNPR ICVKAFPPNK LEPSQKGKLC CALGWRGIPQ DLTPKTDHKY MGLPHSSGSS
YC
