LOCUS       NM_003886               2866 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens A-kinase anchoring protein 4 (AKAP4), transcript
            variant 1, mRNA.
ACCESSION   NM_003886
VERSION     NM_003886.3
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 2866)
  AUTHORS   Wei,H., Zhang,X., Wang,C., Wang,J., Li,T., Chen,S., Li,H. and
            Wang,B.
  TITLE     A pathogenic AKAP4 variant, p.R429H, causes male in/subfertility in
            humans and mice
  JOURNAL   Clin Transl Med 13 (12), e1463 (2023)
   PUBMED   38050179
REFERENCE   2  (bases 1 to 2866)
  AUTHORS   Ma,N., Liu,H., Zhang,Y., Liu,W., Liang,Z., Wang,Q., Sun,Y.,
            Wang,L., Li,Y., Ren,H. and Dong,Y.
  TITLE     Identification of CD8+ T-cell epitope from multiple
            myeloma-specific antigen AKAP4
  JOURNAL   Front Immunol 13, 927804 (2022)
   PUBMED   35967402
  REMARK    GeneRIF: Identification of CD8(+) T-cell epitope from multiple
            myeloma-specific antigen AKAP4.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2866)
  AUTHORS   Zhang,B., Hu,Q., Zhang,J., Jin,Z., Ruan,Y., Xia,L. and Wang,C.
  TITLE     Silencing of A-kinase anchor protein 4 inhibits the metastasis and
            growth of non-small cell lung cancer
  JOURNAL   Bioengineered 13 (3), 6895-6907 (2022)
   PUBMED   35253625
  REMARK    GeneRIF: Silencing of A-kinase anchor protein 4 inhibits the
            metastasis and growth of non-small cell lung cancer.
REFERENCE   4  (bases 1 to 2866)
  AUTHORS   Zhang,G., Li,D., Tu,C., Meng,L., Tan,Y., Ji,Z., Cheng,J., Lu,G.,
            Lin,G., Zhang,H., Sun,J., Wang,M., Du,J. and Xu,W.
  TITLE     Loss-of-function missense variant of AKAP4 induced male infertility
            through reduced interaction with QRICH2 during sperm flagella
            development
  JOURNAL   Hum Mol Genet 31 (2), 219-231 (2021)
   PUBMED   34415320
  REMARK    GeneRIF: Loss-of-function missense variant of AKAP4 induced male
            infertility through reduced interaction with QRICH2 during sperm
            flagella development.
REFERENCE   5  (bases 1 to 2866)
  AUTHORS   Gu,L., Liu,X., Yang,J. and Bai,J.
  TITLE     A new hemizygous missense mutation, c.454TC (p.S152P), in AKAP4
            gene is associated with asthenozoospermia
  JOURNAL   Mol Reprod Dev 88 (9), 587-597 (2021)
   PUBMED   34409659
  REMARK    GeneRIF: A new hemizygous missense mutation, c.454TC (p.S152P), in
            AKAP4 gene is associated with asthenozoospermia.
REFERENCE   6  (bases 1 to 2866)
  AUTHORS   Turner,R.M., Foster,J.A., Gerton,G.L., Moss,S.B. and Patrizio,P.
  TITLE     Molecular evaluation of two major human sperm fibrous sheath
            proteins, pro-hAKAP82 and hAKAP82, in stump tail sperm
  JOURNAL   Fertil Steril 76 (2), 267-274 (2001)
   PUBMED   11476771
REFERENCE   7  (bases 1 to 2866)
  AUTHORS   Miki,K. and Eddy,E.M.
  TITLE     Identification of tethering domains for protein kinase A type
            Ialpha regulatory subunits on sperm fibrous sheath protein FSC1
  JOURNAL   J Biol Chem 273 (51), 34384-34390 (1998)
   PUBMED   9852104
REFERENCE   8  (bases 1 to 2866)
  AUTHORS   Turner,R.M., Johnson,L.R., Haig-Ladewig,L., Gerton,G.L. and
            Moss,S.B.
  TITLE     An X-linked gene encodes a major human sperm fibrous sheath
            protein, hAKAP82. Genomic organization, protein kinase A-RII
            binding, and distribution of the precursor in the sperm tail
  JOURNAL   J Biol Chem 273 (48), 32135-32141 (1998)
   PUBMED   9822690
REFERENCE   9  (bases 1 to 2866)
  AUTHORS   Mohapatra,B., Verma,S., Shankar,S. and Suri,A.
  TITLE     Molecular cloning of human testis mRNA specifically expressed in
            haploid germ cells, having structural homology with the A-kinase
            anchoring proteins
  JOURNAL   Biochem Biophys Res Commun 244 (2), 540-545 (1998)
   PUBMED   9514854
REFERENCE   10 (bases 1 to 2866)
  AUTHORS   Lester,L.B. and Scott,J.D.
  TITLE     Anchoring and scaffold proteins for kinases and phosphatases
  JOURNAL   Recent Prog Horm Res 52, 409-29 (1997)
   PUBMED   9238861
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC235789.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_003886.2.
            
            Summary: The A-kinase anchor proteins (AKAPs) are a group of
            structurally diverse proteins, which have the common function of
            binding to the regulatory subunit of protein kinase A (PKA) and
            confining the holoenzyme to discrete locations within the cell.
            This gene encodes a member of the AKAP family. The encoded protein
            is localized to the sperm flagellum and may be involved in the
            regulation of sperm motility. Alternative splicing of this gene
            results in two transcript variants encoding different isoforms.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) includes an alternate 5' exon
            and encodes a longer isoform, as compared to variant 2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292463.1, GQ891359.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358526.7/ ENSP00000351327.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-145               AC235789.3         12749-12893
            146-241             AC235789.3         15004-15099
            242-292             AC235789.3         16162-16212
            293-394             AC235789.3         16764-16865
            395-2527            AC235789.3         19320-21452
            2528-2866           AC235789.3         22641-22979
FEATURES             Location/Qualifiers
     source          1..2866
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..2866
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /note="A-kinase anchoring protein 4"
                     /db_xref="GeneID:8852"
                     /db_xref="HGNC:HGNC:374"
                     /db_xref="MIM:300185"
     exon            1..145
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     CDS             119..2683
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     A-kinase anchor protein 82 kDa; cancer/testis antigen 99;
                     A-kinase anchor protein 4; testis-specific gene HI;
                     protein kinase A anchoring protein 4; major sperm fibrous
                     sheath protein; A kinase (PRKA) anchor protein 4;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="A-kinase anchor protein 4 isoform 1"
                     /protein_id="NP_003877.2"
                     /db_xref="CCDS:CCDS14329.1"
                     /db_xref="GeneID:8852"
                     /db_xref="HGNC:HGNC:374"
                     /db_xref="MIM:300185"
                     /translation="MMAYSDTTMMSDDIDWLRSHRGVCKVDLYNPEGQQDQDRKVICF
                     VDVSTLNVEDKDYKDAASSSSEGNLNLGSLEEKEIIVIKDTEKKDQSKTEGSVCLFKQ
                     APSDPVSVLNWLLSDLQKYALGFQHALSPSTSTCKHKVGDTEGEYHRASSENCYSVYA
                     DQVNIDYLMNRPQNLRLEMTAAKNTNNNQSPSAPPAKPPSTQRAVISPDGECSIDDLS
                     FYVNRLSSLVIQMAHKEIKEKLEGKSKCLHHSICPSPGNKERISPRTPASKIASEMAY
                     EAVELTAAEMRGTGEESREGGQKSFLYSELSNKSKSGDKQMSQRESKEFADSISKGLM
                     VYANQVASDMMVSLMKTLKVHSSGKPIPASVVLKRVLLRHTKEIVSDLIDSCMKNLHN
                     ITGVLMTDSDFVSAVKRNLFNQWKQNATDIMEAMLKRLVSALIGEEKETKSQSLSYAS
                     LKAGSHDPKCRNQSLEFSTMKAEMKERDKGKMKSDPCKSLTSAEKVGEHILKEGLTIW
                     NQKQGNSCKVATKACSNKDEKGEKINASTDSLAKDLIVSALKLIQYHLTQQTKGKDTC
                     EEDCPGSTMGYMAQSTQYEKCGGGQSAKALSVKQLESHRAPGPSTCQKENQHLDSQKM
                     DMSNIVLMLIQKLLNENPFKCEDPCEGENKCSEPRASKAASMSNRSDKAEEQCQEHQE
                     LDCTSGMKQANGQFIDKLVESVMKLCLIMAKYSNDGAALAELEEQAASANKPNFRGTR
                     CIHSGAMPQNYQDSLGHEVIVNNQCSTNSLQKQLQAVLQWIAASQFNVPMLYFMGDKD
                     GQLEKLPQVSAKAAEKGYSVGGLLQEVMKFAKERQPDEAVGKVARKQLLDWLLANL"
     exon            146..241
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     exon            242..292
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     exon            293..394
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     exon            395..2527
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     exon            2528..2866
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2849..2854
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /note="hexamer: AATAAA"
     polyA_site      2866
                     /gene="AKAP4"
                     /gene_synonym="AKAP 82; AKAP-4; AKAP82; CT99; FSC1;
                     hAKAP82; HI; p82; PRKA4"
                     /note="major polyA site"
ORIGIN      
        1 ggcagtcaag gctgtaggag ggcatggaga gttgaagaaa aaagcagtat cttgaggcag
       61 actggaagag tcatcacagc atccaaatca acaagaaaac atcattccag ggtcctacat
      121 gatggcgtac tctgatacta caatgatgtc tgatgatatt gactggttac gcagccacag
      181 gggtgtgtgc aaggtagatc tctacaaccc agaaggacag caagatcagg accggaaagt
      241 gatatgcttt gtcgatgtgt ccaccctgaa tgtagaagat aaagattaca aggatgctgc
      301 tagttccagc tcagaaggca acttaaacct gggaagtctg gaagaaaaag agattatcgt
      361 gatcaaggac actgagaaga aagaccagtc taagacagag ggatctgtat gccttttcaa
      421 acaagctccc tctgatcctg taagtgtcct caactggctt ctcagtgatc tccagaagta
      481 tgccttgggt ttccaacatg cactgagccc ctcaacctct acctgtaaac ataaagtagg
      541 agacacagag ggcgaatatc acagagcatc ctctgagaac tgctacagtg tctatgccga
      601 tcaagtgaac atagattatt tgatgaacag acctcaaaac ctacgtctag aaatgacagc
      661 agctaaaaac accaacaata atcaaagtcc ttcagctcct ccagccaaac ctcctagcac
      721 tcagagagca gtcatttccc ctgatggaga atgttctata gatgaccttt ccttctacgt
      781 caaccgacta tcttctctgg taatccagat ggcccataag gaaatcaagg agaagttgga
      841 aggtaaaagc aaatgccttc atcattcaat ctgtccatcc cctgggaaca aagagagaat
      901 cagtccccga actcctgcga gcaagattgc ttctgaaatg gcctatgaag ctgtggaact
      961 gacagctgca gaaatgcgtg gcactggaga ggagtccagg gaaggtggcc agaaaagctt
     1021 tctatatagc gaattatcca acaagagcaa aagtggagac aaacagatgt cccagagaga
     1081 gagcaaagaa tttgcagatt ccatcagcaa ggggctcatg gtttatgcaa atcaggtggc
     1141 atctgacatg atggtctctc tcatgaagac cttgaaagtg cacagctctg ggaagccaat
     1201 tccagcatct gtggtcctga agagggtgtt gctaaggcac accaaggaga ttgtgtccga
     1261 tttgattgat tcttgcatga agaacctgca taatattact ggggtcctga tgactgactc
     1321 agactttgtc tcagctgtca agagaaatct gttcaaccag tggaaacaaa atgctacaga
     1381 catcatggag gccatgctga agcgcttggt cagtgccctt ataggtgagg agaaggagac
     1441 taagtctcag agtctgtcat atgcatcttt aaaagctggg tcccatgatc ccaaatgcag
     1501 gaatcagagt cttgaattct ccaccatgaa agctgaaatg aaagagaggg acaaaggcaa
     1561 aatgaaatca gacccatgca agtcactgac tagtgctgag aaagtcggtg aacacattct
     1621 caaagagggc ctaaccatct ggaaccaaaa gcaaggaaac tcatgcaagg tggctaccaa
     1681 agcatgcagc aataaagatg agaaaggaga aaagatcaat gcttccacag attcactggc
     1741 caaggacctg attgtctctg cccttaagct gatccagtac catctgaccc agcagactaa
     1801 gggcaaagat acatgtgaag aagactgtcc tggttccacc atgggctata tggctcagag
     1861 tactcaatat gaaaagtgtg gaggtggcca aagtgccaaa gcactttcag tgaaacaact
     1921 agaatctcac agagcccctg gaccatccac ctgtcaaaag gagaaccaac acctggactc
     1981 ccagaaaatg gatatgtcaa acatcgttct aatgctgatt cagaaactgc ttaatgagaa
     2041 ccccttcaaa tgtgaggatc catgcgaagg tgagaacaag tgttctgagc ccagggcaag
     2101 caaagcagct tccatgtcca acagatctga caaagcggaa gaacaatgcc aggagcatca
     2161 agaacttgac tgtaccagtg ggatgaagca agcgaacggg caatttatag ataaactagt
     2221 agaatctgtg atgaagctct gccttatcat ggctaagtat agcaacgatg gggcagccct
     2281 tgctgagttg gaagaacaag cagcctcggc aaataagccc aatttcaggg gcaccagatg
     2341 cattcacagt ggtgcaatgc cacagaacta tcaagactct cttggacatg aagtaattgt
     2401 caataatcag tgctctacaa atagcttgca gaagcagctc caggctgtcc tgcagtggat
     2461 tgcagcctcc cagtttaacg tgcccatgct ctacttcatg ggagataagg atggacaact
     2521 ggaaaagctt cctcaggttt cagctaaagc agcagagaag gggtacagtg taggaggtct
     2581 tcttcaagag gtcatgaagt ttgccaagga acggcaacca gatgaagctg tgggaaaggt
     2641 ggccaggaaa cagttgctgg actggctgct cgctaacctg tgagctgatc cttgactcct
     2701 cttcatctta gcccccctag cagcattcca tcccagccag agcaccccca ccatcaggcc
     2761 agtcaactgc acaatacaca actgtatttc ccaatacact tgagcagttg cctgtgaatg
     2821 taagaggtgt caacaaactg ggaaataaaa taaaaaaaaa taataa
//
