PMFBP_HUMAN
ID PMFBP_HUMAN Reviewed; 1007 AA.
AC Q8TBY8; B3KVI9; G3V1Q7; H7BY07; Q8NA09; Q9BY16; Q9H0H4;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 08-MAY-2019, sequence version 3.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Polyamine-modulated factor 1-binding protein 1;
DE Short=PMF-1-binding protein;
GN Name=PMFBP1;
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 VARIANT ASN-913.
RC TISSUE=Testis;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP ASN-913.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 790-1007 (ISOFORM 2), AND VARIANT ASN-913.
RA Wang Y., Devereux W.L., Murray-Stewart T., Casero R.A. Jr.;
RT "PMF-1 binding protein.";
RL Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP FUNCTION.
RX PubMed=1770140; DOI=10.1093/oxfordjournals.humrep.a137283;
RA Haidl G., Becker A., Henkel R.;
RT "Poor development of outer dense fibers as a major cause of tail
RT abnormalities in the spermatozoa of asthenoteratozoospermic men.";
RL Hum. Reprod. 6:1431-1438(1991).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN SPGF31, AND VARIANTS SPGF31
RP 488-GLN--LEU-1007 DEL; 802-GLN--LEU-1007 DEL AND 909-ARG--LEU-1007 DEL.
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 [9]
RP FUNCTION, INVOLVEMENT IN SPGF31, SUBCELLULAR LOCATION, AND VARIANT SPGF31
RP 109-TYR--LEU-1022 DEL.
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:1770140,
CC PubMed:30032984, PubMed:30298696). It functions as a scaffold protein
CC that attaches the sperm head-tail connecting piece to the nuclear
CC envelope, thus maintaining sperm head and tail integrity
CC (PubMed:30032984). May also be involved in the general organization of
CC cellular cytoskeleton (By similarity). {ECO:0000250|UniProtKB:Q9WVQ0,
CC ECO:0000269|PubMed:1770140, ECO:0000269|PubMed:30032984,
CC ECO:0000269|PubMed:30298696}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}.
CC Note=Localized at the sperm head-tail connecting piece
CC (PubMed:30032984, PubMed:30298696). During spermatogenesis, it is first
CC observed in the cytoplasm of round spermatids, it later appears in the
CC implantation fossa region of the sperm nucleus during sperm head
CC elongation and differentiation, and finally it localizes to the head-
CC tail connecting piece (By similarity). {ECO:0000250|UniProtKB:Q9WVQ0,
CC ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=2;
CC IsoId=Q8TBY8-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q8TBY8-1; Sequence=VSP_060105, VSP_060108;
CC Name=3;
CC IsoId=Q8TBY8-3; Sequence=VSP_060106;
CC Name=4;
CC IsoId=Q8TBY8-4; Sequence=VSP_060104, VSP_060107;
CC -!- DISEASE: Spermatogenic failure 31 (SPGF31) [MIM:618112]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects that
CC result in oligozoospermia with a high proportion of acephalic sperm.
CC {ECO:0000269|PubMed:30032984, ECO:0000269|PubMed:30298696}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK15456.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL136795; CAB66729.1; -; mRNA.
DR EMBL; AK093285; BAC04121.1; -; mRNA.
DR EMBL; AK122925; BAG53801.1; -; mRNA.
DR EMBL; AC004682; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC009087; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471166; EAW59178.1; -; Genomic_DNA.
DR EMBL; CH471166; EAW59176.1; -; Genomic_DNA.
DR EMBL; BC028423; AAH28423.1; -; mRNA.
DR EMBL; AF239683; AAK15456.1; ALT_INIT; mRNA.
DR CCDS; CCDS32483.1; -. [Q8TBY8-2]
DR RefSeq; NP_001153685.1; NM_001160213.1. [Q8TBY8-4]
DR RefSeq; NP_112583.2; NM_031293.2. [Q8TBY8-2]
DR AlphaFoldDB; Q8TBY8; -.
DR SMR; Q8TBY8; -.
DR BioGRID; 123651; 10.
DR IntAct; Q8TBY8; 6.
DR STRING; 9606.ENSP00000237353; -.
DR iPTMnet; Q8TBY8; -.
DR PhosphoSitePlus; Q8TBY8; -.
DR BioMuta; PMFBP1; -.
DR DMDM; 74751395; -.
DR EPD; Q8TBY8; -.
DR jPOST; Q8TBY8; -.
DR MassIVE; Q8TBY8; -.
DR PaxDb; Q8TBY8; -.
DR PeptideAtlas; Q8TBY8; -.
DR PRIDE; Q8TBY8; -.
DR ProteomicsDB; 32408; -.
DR ProteomicsDB; 43462; -.
DR ProteomicsDB; 74048; -. [Q8TBY8-1]
DR ProteomicsDB; 74049; -. [Q8TBY8-2]
DR ProteomicsDB; 74050; -. [Q8TBY8-3]
DR Antibodypedia; 1776; 92 antibodies from 20 providers.
DR DNASU; 83449; -.
DR Ensembl; ENST00000237353.15; ENSP00000237353.10; ENSG00000118557.16. [Q8TBY8-2]
DR Ensembl; ENST00000355636.10; ENSP00000347854.6; ENSG00000118557.16. [Q8TBY8-4]
DR Ensembl; ENST00000537465.5; ENSP00000443817.1; ENSG00000118557.16. [Q8TBY8-1]
DR GeneID; 83449; -.
DR KEGG; hsa:83449; -.
DR MANE-Select; ENST00000237353.15; ENSP00000237353.10; NM_031293.3; NP_112583.2.
DR UCSC; uc002fcc.5; human.
DR UCSC; uc002fcd.4; human. [Q8TBY8-2]
DR CTD; 83449; -.
DR DisGeNET; 83449; -.
DR GeneCards; PMFBP1; -.
DR HGNC; HGNC:17728; PMFBP1.
DR HPA; ENSG00000118557; Tissue enhanced (epididymis, testis).
DR MalaCards; PMFBP1; -.
DR MIM; 618085; gene.
DR MIM; 618112; phenotype.
DR neXtProt; NX_Q8TBY8; -.
DR OpenTargets; ENSG00000118557; -.
DR Orphanet; 529970; Male infertility due to acephalic spermatozoa.
DR PharmGKB; PA38464; -.
DR VEuPathDB; HostDB:ENSG00000118557; -.
DR eggNOG; ENOG502QUDT; Eukaryota.
DR GeneTree; ENSGT00390000012700; -.
DR HOGENOM; CLU_012841_0_0_1; -.
DR InParanoid; Q8TBY8; -.
DR OMA; SKYNASQ; -.
DR OrthoDB; 291625at2759; -.
DR PhylomeDB; Q8TBY8; -.
DR TreeFam; TF336266; -.
DR PathwayCommons; Q8TBY8; -.
DR SignaLink; Q8TBY8; -.
DR BioGRID-ORCS; 83449; 5 hits in 1065 CRISPR screens.
DR ChiTaRS; PMFBP1; human.
DR GeneWiki; PMFBP1; -.
DR GenomeRNAi; 83449; -.
DR Pharos; Q8TBY8; Tbio.
DR PRO; PR:Q8TBY8; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8TBY8; protein.
DR Bgee; ENSG00000118557; Expressed in sperm and 100 other tissues.
DR ExpressionAtlas; Q8TBY8; baseline and differential.
DR Genevisible; Q8TBY8; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
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 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil;
KW Disease variant; Flagellum; Reference proteome.
FT CHAIN 1..1007
FT /note="Polyamine-modulated factor 1-binding protein 1"
FT /id="PRO_0000304619"
FT COILED 76..103
FT /evidence="ECO:0000255"
FT COILED 157..203
FT /evidence="ECO:0000255"
FT COILED 322..717
FT /evidence="ECO:0000255"
FT COILED 759..793
FT /evidence="ECO:0000255"
FT COILED 829..863
FT /evidence="ECO:0000255"
FT COILED 922..956
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..145
FT /note="Missing (in isoform 4)"
FT /id="VSP_060104"
FT VAR_SEQ 481
FT /note="L -> LAGEAP (in isoform 1)"
FT /id="VSP_060105"
FT VAR_SEQ 509..718
FT /note="Missing (in isoform 3)"
FT /id="VSP_060106"
FT VAR_SEQ 923
FT /note="D -> DREPTRASSPNTTRPSSPSHS (in isoform 4)"
FT /id="VSP_060107"
FT VAR_SEQ 1004..1007
FT /note="SSYC -> TSAICQKNKCDFFL (in isoform 1)"
FT /id="VSP_060108"
FT VARIANT 109..1007
FT /note="Missing (in SPGF31)"
FT /evidence="ECO:0000269|PubMed:30298696"
FT /id="VAR_081140"
FT VARIANT 172
FT /note="A -> T (in dbSNP:rs217180)"
FT /id="VAR_035042"
FT VARIANT 193
FT /note="E -> K (in dbSNP:rs35370634)"
FT /id="VAR_035043"
FT VARIANT 381
FT /note="R -> L (in dbSNP:rs35781168)"
FT /id="VAR_035044"
FT VARIANT 488..1007
FT /note="Missing (in SPGF31)"
FT /evidence="ECO:0000269|PubMed:30032984"
FT /id="VAR_081141"
FT VARIANT 645
FT /note="K -> T (in dbSNP:rs34832584)"
FT /id="VAR_035045"
FT VARIANT 650
FT /note="T -> K (in dbSNP:rs34832584)"
FT /id="VAR_056974"
FT VARIANT 802..1007
FT /note="Missing (in SPGF31)"
FT /evidence="ECO:0000269|PubMed:30032984"
FT /id="VAR_081142"
FT VARIANT 909..1007
FT /note="Missing (in SPGF31)"
FT /evidence="ECO:0000269|PubMed:30032984"
FT /id="VAR_081143"
FT VARIANT 913
FT /note="K -> N (in dbSNP:rs16973716)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_069056"
FT CONFLICT 238
FT /note="T -> A (in Ref. 2; BAC04121)"
FT /evidence="ECO:0000305"
FT VARIANT Q8TBY8-1:1013
FT /note="C -> G (in dbSNP:rs17852563)"
FT /evidence="ECO:0000305"
FT /id="VAR_082886"
SQ SEQUENCE 1007 AA; 117494 MW; 98C51191F9C3252D CRC64;
MKDEAGERDR EVSSLNSKLL SLQLDIKNLH DVCKRQRKTL QDNQLCMEEA MNSSHDKKQA
QALAFEESEV EFGSSKQCHL RQLQQLKKKL LVLQQELEFH TEELQTSYYS LRQYQSILEK
QTSDLVLLHH HCKLKEDEVI LYEEEMGNHN ENTGEKLHLA QEQLALAGDK IASLERSLNL
YRDKYQSSLS NIELLECQVK MLQGELGGIM GQEPENKGDH SKVRIYTSPC MIQEHQETQK
RLSEVWQKVS QQDDLIQELR NKLACSNALV LEREKALIKL QADFASCTAT HRYPPSSSEE
CEDIKKILKH LQEQKDSQCL HVEEYQNLVK DLRVELEAVS EQKRNIMKDM MKLELDLHGL
REETSAHIER KDKDITILQC RLQELQLEFT ETQKLTLKKD KFLQEKDEML QELEKKLTQV
QNSLLKKEKE LEKQQCMATE LEMTVKEAKQ DKSKEAECKA LQAEVQKLKN SLEEAKQQER
LAAQQAAQCK EEAALAGCHL EDTQRKLQKG LLLDKQKADT IQELQRELQM LQKESSMAEK
EQTSNRKRVE ELSLELSEAL RKLENSDKEK RQLQKTVAEQ DMKMNDMLDR IKHQHREQGS
IKCKLEEDLQ EATKLLEDKR EQLKKSKEHE KLMEGELEAL RQEFKKKDKT LKENSRKLEE
ENENLRAELQ CCSTQLESSL NKYNTSQQVI QDLNKEIALQ KESLMSLQAQ LDKALQKEKH
YLQTTITKEA YDALSRKSAA CQDDLTQALE KLNHVTSETK SLQQSLTQTQ EKKAQLEEEI
IAYEERMKKL NTELRKLRGF HQESELEVHA FDKKLEEMSC QVLQWQKQHQ NDLKMLAAKE
EQLREFQEEM AALKENLLED DKEPCCLPQW SVPKDTCRLY RGNDQIMTNL EQWAKQQKVA
NEKLGNQLRE QVKYIAKLSG EKDHLHSVMV HLQQENKKLK KEIEEKKMKA ENTRLCTKAL
GPSRTESTQR EKVCGTLGWK GLPQDMGQRM DLTKYIGMPH CPGSSYC
