LOCUS       NM_031293               3427 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens polyamine modulated factor 1 binding protein 1
            (PMFBP1), transcript variant 1, mRNA.
ACCESSION   NM_031293
VERSION     NM_031293.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3427)
  AUTHORS   Liu,G., Xing,X., Zhang,H., Zhu,W., Lin,G., Lu,G. and Li,W.
  TITLE     Patients with acephalic spermatozoa syndrome linked to novel
            TSGA10/PMFBP1 variants have favorable pregnancy outcomes from
            intracytoplasmic sperm injection
  JOURNAL   Clin Genet 100 (3), 334-339 (2021)
   PUBMED   34089195
  REMARK    GeneRIF: Patients with acephalic spermatozoa syndrome linked to
            novel TSGA10/PMFBP1 variants have favorable pregnancy outcomes from
            intracytoplasmic sperm injection.
REFERENCE   2  (bases 1 to 3427)
  AUTHORS   Lu,M., Kong,S., Xiang,M., Wang,Y., Zhang,J., Duan,Z., Zha,X.,
            Wang,F., Cao,Y. and Zhu,F.
  TITLE     A novel homozygous missense mutation of PMFBP1 causes acephalic
            spermatozoa syndrome
  JOURNAL   J Assist Reprod Genet 38 (4), 949-955 (2021)
   PUBMED   33484382
  REMARK    GeneRIF: A novel homozygous missense mutation of PMFBP1 causes
            acephalic spermatozoa syndrome.
REFERENCE   3  (bases 1 to 3427)
  AUTHORS   Liu,G., Wang,N., Zhang,H., Yin,S., Dai,H., Lin,G. and Li,W.
  TITLE     Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the spectrum
            of mutations that may cause acephalic spermatozoa
  JOURNAL   Clin Genet 97 (6), 938-939 (2020)
   PUBMED   32285443
  REMARK    GeneRIF: Novel mutations in PMFBP1, TSGA10 and SUN5: Expanding the
            spectrum of mutations that may cause acephalic spermatozoa.
REFERENCE   4  (bases 1 to 3427)
  AUTHORS   Sha,Y.W., Wang,X., Xu,X., Ding,L., Liu,W.S., Li,P., Su,Z.Y.,
            Chen,J., Mei,L.B., Zheng,L.K., Wang,H.L., Kong,S.B., You,M. and
            Wu,J.F.
  TITLE     Biallelic mutations in PMFBP1 cause acephalic spermatozoa
  JOURNAL   Clin Genet 95 (2), 277-286 (2019)
   PUBMED   30298696
  REMARK    GeneRIF: our data indicate that PMFBP1 is necessary for sperm
            morphology in both humans and mice, and that biallelic truncating
            mutations in PMFBP1 cause acephalic spermatozoa
REFERENCE   5  (bases 1 to 3427)
  AUTHORS   Zhu,F., Liu,C., Wang,F., Yang,X., Zhang,J., Wu,H., Zhang,Z., He,X.,
            Zhang,Z., Zhou,P., Wei,Z., Shang,Y., Wang,L., Zhang,R.,
            Ouyang,Y.C., Sun,Q.Y., Cao,Y. and Li,W.
  TITLE     Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
  JOURNAL   Am J Hum Genet 103 (2), 188-199 (2018)
   PUBMED   30032984
REFERENCE   6  (bases 1 to 3427)
  AUTHORS   Ohuchi,J., Arai,T., Kon,Y., Asano,A., Yamauchi,H. and Watanabe,T.
  TITLE     Characterization of a novel gene, sperm-tail-associated protein
            (Stap), in mouse post-meiotic testicular germ cells
  JOURNAL   Mol Reprod Dev 59 (4), 350-358 (2001)
   PUBMED   11468771
REFERENCE   7  (bases 1 to 3427)
  AUTHORS   Loftus,B.J., Kim,U.J., Sneddon,V.P., Kalush,F., Brandon,R.,
            Fuhrmann,J., Mason,T., Crosby,M.L., Barnstead,M., Cronin,L.,
            Deslattes Mays,A., Cao,Y., Xu,R.X., Kang,H.L., Mitchell,S.,
            Eichler,E.E., Harris,P.C., Venter,J.C. and Adams,M.D.
  TITLE     Genome duplications and other features in 12 Mb of DNA sequence
            from human chromosome 16p and 16q
  JOURNAL   Genomics 60 (3), 295-308 (1999)
   PUBMED   10493829
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB019901.1, AL136795.1, AK093285.1 and AF239683.1.
            
            On May 17, 2019 this sequence version replaced NM_031293.2.
            
            Transcript Variant: This variant (1) represents the shorter
            transcript but encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL136795.1, AK315004.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237353.15/ ENSP00000237353.10
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DB019901.1         101-130
            31-2900             AL136795.1         1-2870
            2901-3421           AK093285.1         2277-2797
            3422-3427           AF239683.1         893-898
FEATURES             Location/Qualifiers
     source          1..3427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.2"
     gene            1..3427
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /note="polyamine modulated factor 1 binding protein 1"
                     /db_xref="GeneID:83449"
                     /db_xref="HGNC:HGNC:17728"
                     /db_xref="MIM:618085"
     exon            1..102
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            103..174
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..3186
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /note="isoform a is encoded by transcript variant 1; PMF-1
                     binding protein"
                     /codon_start=1
                     /product="polyamine-modulated factor 1-binding protein 1
                     isoform a"
                     /protein_id="NP_112583.2"
                     /db_xref="CCDS:CCDS32483.1"
                     /db_xref="GeneID:83449"
                     /db_xref="HGNC:HGNC:17728"
                     /db_xref="MIM:618085"
                     /translation="MKDEAGERDREVSSLNSKLLSLQLDIKNLHDVCKRQRKTLQDNQ
                     LCMEEAMNSSHDKKQAQALAFEESEVEFGSSKQCHLRQLQQLKKKLLVLQQELEFHTE
                     ELQTSYYSLRQYQSILEKQTSDLVLLHHHCKLKEDEVILYEEEMGNHNENTGEKLHLA
                     QEQLALAGDKIASLERSLNLYRDKYQSSLSNIELLECQVKMLQGELGGIMGQEPENKG
                     DHSKVRIYTSPCMIQEHQETQKRLSEVWQKVSQQDDLIQELRNKLACSNALVLEREKA
                     LIKLQADFASCTATHRYPPSSSEECEDIKKILKHLQEQKDSQCLHVEEYQNLVKDLRV
                     ELEAVSEQKRNIMKDMMKLELDLHGLREETSAHIERKDKDITILQCRLQELQLEFTET
                     QKLTLKKDKFLQEKDEMLQELEKKLTQVQNSLLKKEKELEKQQCMATELEMTVKEAKQ
                     DKSKEAECKALQAEVQKLKNSLEEAKQQERLAAQQAAQCKEEAALAGCHLEDTQRKLQ
                     KGLLLDKQKADTIQELQRELQMLQKESSMAEKEQTSNRKRVEELSLELSEALRKLENS
                     DKEKRQLQKTVAEQDMKMNDMLDRIKHQHREQGSIKCKLEEDLQEATKLLEDKREQLK
                     KSKEHEKLMEGELEALRQEFKKKDKTLKENSRKLEEENENLRAELQCCSTQLESSLNK
                     YNTSQQVIQDLNKEIALQKESLMSLQAQLDKALQKEKHYLQTTITKEAYDALSRKSAA
                     CQDDLTQALEKLNHVTSETKSLQQSLTQTQEKKAQLEEEIIAYEERMKKLNTELRKLR
                     GFHQESELEVHAFDKKLEEMSCQVLQWQKQHQNDLKMLAAKEEQLREFQEEMAALKEN
                     LLEDDKEPCCLPQWSVPKDTCRLYRGNDQIMTNLEQWAKQQKVANEKLGNQLREQVKY
                     IAKLSGEKDHLHSVMVHLQQENKKLKKEIEEKKMKAENTRLCTKALGPSRTESTQREK
                     VCGTLGWKGLPQDMGQRMDLTKYIGMPHCPGSSYC"
     exon            175..327
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            328..576
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            577..798
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            799..969
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1080
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1207
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1365
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1366..1609
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1610..1799
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1944
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1945..2112
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..2250
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2251..2415
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2416..2583
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2584..2751
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2752..2855
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2856..2930
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            2931..3169
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     exon            3170..3427
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3404..3409
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /note="hexamer: AATAAA"
     polyA_site      3427
                     /gene="PMFBP1"
                     /gene_synonym="SPGF31; STAP"
                     /note="major polyA site"
ORIGIN      
        1 aacattcttt cttcctcttg gcttatatta gggatagggg atgtggtttg ttacaaagga
       61 tgagtatttt gatagcttct cattccttga actattctgc aggtttataa caaagctcag
      121 aaaatactaa aggttaaagg agaattgaga gctgccaagg aaatgaaaga tgaggcgggg
      181 gagagagaca gagaagtgag cagcctgaac agcaagctgt taagcctgca acttgacatc
      241 aagaatctgc acgatgtctg caagagacag aggaagacct tgcaggacaa tcagctctgc
      301 atggaggagg caatgaacag cagccacgac aagaagcaag cacaggcatt agcattcgag
      361 gagtcagagg tggaatttgg gtccagtaaa cagtgtcatc tgagacaact ccagcaactg
      421 aagaaaaaat tgctggtcct tcaacaagaa ctggagtttc acacagagga gttgcagact
      481 tcttactatt ctctccgcca gtatcagtcc atcctagaga agcagacttc cgacctggtt
      541 cttctgcacc atcactgcaa actgaaagaa gatgaggtga ttctctatga ggaggaaatg
      601 ggaaatcaca acgagaacac aggggagaag ctccatttgg cgcaggagca actcgccttg
      661 gccggggaca agatcgcctc tctagagagg agcttaaacc tctacaggga taaataccag
      721 tcttccctga gcaacatcga gttactagaa tgccaagtga agatgttgca gggggaactc
      781 ggcgggatca tgggtcagga gcctgagaac aagggtgatc attcaaaggt acggatatac
      841 acttctcctt gcatgattca agagcatcag gagactcaga aacgactgtc tgaagtctgg
      901 caaaaggtct ctcaacagga tgatctcatt caagaacttc gaaataagct ggcctgcagt
      961 aacgctttgg ttctggagcg tgaaaaggct ttgataaaac tacaagccga ttttgcttcc
     1021 tgtacagcca cccacagata ccctcctagc tcctcagaag agtgtgaaga catcaaaaag
     1081 atactgaagc acttgcagga gcagaaagac agccagtgcc tgcatgtgga ggagtaccag
     1141 aacctggtga aggatctgcg cgtggaacta gaggccgtgt cggaacagaa gagaaacatc
     1201 atgaaggaca tgatgaagct ggagctggac ctgcacggac tgcgggagga gacatctgcc
     1261 cacattgaga ggaaggataa ggacatcacc atcctgcagt gccggctgca ggagctgcag
     1321 ctggagttca ccgagaccca aaagctcact ttgaagaaag acaagttcct ccaagagaaa
     1381 gatgagatgc tgcaagagct ggagaagaaa ctgacacagg ttcagaacag cctcctgaaa
     1441 aaggagaagg agctggagaa gcagcagtgc atggccacag aacttgaaat gacagtcaag
     1501 gaggctaagc aggacaagtc caaggaggcg gagtgcaagg ccctgcaggc tgaggtccag
     1561 aagctgaaga acagtctcga agaggccaag cagcaggaga ggctggctgc tcagcaagca
     1621 gcccagtgca aagaagaggc tgcactggca ggctgtcacc tggaggacac ccagaggaaa
     1681 ctgcagaagg gtctcctcct ggacaagcag aaggcagaca ccatccagga actacagaga
     1741 gaacttcaga tgctgcagaa ggagtcctcg atggctgaga aggaacaaac ctccaacaga
     1801 aaacgggtgg aggagctgtc attagaactc tctgaagccc tgaggaagct tgaaaattca
     1861 gacaaggaaa agaggcagct tcagaagaca gtggctgagc aggatatgaa aatgaatgac
     1921 atgcttgatc gtatcaagca ccagcacagg gagcaaggct ccatcaaatg caagttagaa
     1981 gaagatcttc aggaggccac aaagcttctg gaggacaaac gggagcagtt gaagaagagc
     2041 aaagagcatg agaagctgat ggagggagaa cttgaagctt tgcggcagga atttaaaaag
     2101 aaagacaaga cgttgaaaga gaattccaga aagttggagg aagaaaatga gaatctccga
     2161 gcagagctac agtgttgttc tacacaactg gaatcctctc tcaacaaata caacaccagc
     2221 cagcaagtca tccaagactt gaataaagag atagcccttc agaaggagtc cttaatgagc
     2281 ctgcaggccc agctggacaa agctctgcag aaggagaagc actatctcca gactaccatc
     2341 accaaagaag cctatgatgc attatcccgg aagtcagccg cctgccagga tgacctgaca
     2401 caagccctcg agaagctcaa tcacgtgacc tcagagacaa agagcctgca gcaaagcttg
     2461 acacagaccc aagagaagaa agctcagctg gaagaggaaa tcattgctta tgaggaaagg
     2521 atgaaaaagc tcaatacgga attaagaaaa ctgcggggct tccaccagga gagtgagctg
     2581 gaggtgcacg cctttgacaa gaagctagag gagatgagct gccaggtgct gcagtggcag
     2641 aagcaacacc agaatgacct caagatgctg gcagccaaag aggagcagct cagggagttc
     2701 caggaggaga tggccgcctt aaaagagaac ctccttgagg acgataagga gccctgctgc
     2761 ctgccccagt ggtctgtgcc caaagacacc tgtaggctct accgagggaa tgatcagatt
     2821 atgaccaact tggagcaatg ggcaaaacag cagaaggtcg ccaatgagaa actaggaaac
     2881 cagctccgag agcaggtgaa atacattgcc aagctgagtg gcgaaaagga ccacctccac
     2941 agtgtaatgg tccacttgca gcaggaaaac aagaagctga agaaggagat agaagagaag
     3001 aagatgaaag ccgagaacac aaggctatgc accaaagccc taggcccgag cagaacggag
     3061 tccacacaga gggagaaagt gtgcggcacc ttgggctgga aggggttgcc ccaggatatg
     3121 ggtcaaagaa tggacctcac caagtacatc gggatgcccc actgcccggg ttcctcatac
     3181 tgctagaatc cacatctagc cctgagcagc atttccacgg gtgtttcttc agaggacagt
     3241 gagttcccag ccctccctct ctcttgacct ggatcagctc ttacaggagt atatcacggt
     3301 cccagcctat tttgcaagac actaactttt gttgagtttt gtccacttcc tgccatggag
     3361 tgagctttag aaccatacta ccatctccag gcccaaactc tgaaataaag acatgagcat
     3421 gagcaca
//
