LOCUS       NM_007059               1636 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens kaptin, actin binding protein (KPTN), transcript
            variant 1, mRNA.
ACCESSION   NM_007059
VERSION     NM_007059.4
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 1636)
  AUTHORS   Li,J., Yang,D., Lin,Y., Xu,W., Zhao,S.M. and Wang,C.
  TITLE     OTUD3 suppresses the mTORC1 signaling by deubiquitinating KPTN
  JOURNAL   Front Pharmacol 14, 1337732 (2024)
   PUBMED   38288086
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1636)
  AUTHORS   Liaqat,K., Bharadwaj,T., Shah,K., Nasir,A., Acharya,A., Khan,S.,
            Ullah,I., Schrauwen,I., Ahmad,W. and Leal,S.M.
  TITLE     Nonsense variant in a consanguineous family expands the phenotype
            of KPTN gene-related syndrome to include hearing impairment
  JOURNAL   Clin Genet 104 (4), 499-501 (2023)
   PUBMED   37311648
  REMARK    GeneRIF: Nonsense variant in a consanguineous family expands the
            phenotype of KPTN gene-related syndrome to include hearing
            impairment.
REFERENCE   3  (bases 1 to 1636)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1636)
  AUTHORS   Pacio Miguez,M., Santos-Simarro,F., Garcia-Minaur,S., Velazquez
            Fragua,R., Del Pozo,A., Solis,M., Jimenez Rodriguez,C.,
            Rufo-Rabadan,V., Fernandez,V.E., Rueda,I., Gomez Del Pozo,M.V.,
            Gallego,N., Lapunzina,P. and Palomares-Bralo,M.
  TITLE     Pathogenic variants in KPTN, a rare cause of macrocephaly and
            intellectual disability
  JOURNAL   Am J Med Genet A 182 (10), 2222-2225 (2020)
   PUBMED   32808430
  REMARK    GeneRIF: Pathogenic variants in KPTN, a rare cause of macrocephaly
            and intellectual disability.
REFERENCE   5  (bases 1 to 1636)
  AUTHORS   Thiffault,I., Atherton,A., Heese,B.A., T Abdelmoity,A., Pawar,K.,
            Farrow,E., Zellmer,L., Miller,N., Soden,S. and Saunders,C.
  TITLE     Pathogenic variants in KPTN gene identified by clinical
            whole-genome sequencing
  JOURNAL   Cold Spring Harb Mol Case Stud 6 (3), a003970 (2020)
   PUBMED   32358097
  REMARK    GeneRIF: Pathogenic variants in KPTN gene identified by clinical
            whole-genome sequencing.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1636)
  AUTHORS   Baple,E.L., Maroofian,R., Chioza,B.A., Izadi,M., Cross,H.E.,
            Al-Turki,S., Barwick,K., Skrzypiec,A., Pawlak,R., Wagner,K.,
            Coblentz,R., Zainy,T., Patton,M.A., Mansour,S., Rich,P.,
            Qualmann,B., Hurles,M.E., Kessels,M.M. and Crosby,A.H.
  TITLE     Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and
            seizures
  JOURNAL   Am J Hum Genet 94 (1), 87-94 (2014)
   PUBMED   24239382
  REMARK    GeneRIF: We have demonstrated that mutations in KPTN, encoding
            kaptin, cause a syndrome typified by macrocephaly,
            neurodevelopmental delay, and seizures.
REFERENCE   7  (bases 1 to 1636)
  AUTHORS   Bearer,E.L., Chen,A.F., Chen,A.H., Li,Z., Mark,H.F., Smith,R.J. and
            Jackson,C.L.
  TITLE     2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus,
            DFNA4
  JOURNAL   Ann Hum Genet 64 (Pt 3), 189-196 (2000)
   PUBMED   11409409
REFERENCE   8  (bases 1 to 1636)
  AUTHORS   Bearer,E.L. and Abraham,M.T.
  TITLE     2E4 (kaptin): a novel actin-associated protein from human blood
            platelets found in lamellipodia and the tips of the stereocilia of
            the inner ear
  JOURNAL   Eur J Cell Biol 78 (2), 117-126 (1999)
   PUBMED   10099934
REFERENCE   9  (bases 1 to 1636)
  AUTHORS   Rawlins,L.E., Crino,P.B., Iffland,P.H., Crosby,A.H. and Baple,E.L.
  TITLE     KPTN-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   39083632
REFERENCE   10 (bases 1 to 1636)
  AUTHORS   Bearer,E.L.
  TITLE     An actin-associated protein present in the microtubule organizing
            center and the growth cones of PC-12 cells
  JOURNAL   J Neurosci 12 (3), 750-761 (1992)
   PUBMED   1372044
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA129265.1, AK023996.1,
            AF105369.1 and AK225419.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_007059.3.
            
            Summary: This gene encodes a filamentous-actin-associated protein,
            which is involved in actin dynamics and plays an important role in
            neuromorphogenesis. This protein is part of the KICSTOR protein
            complex that localizes to lysosomes. Mutations in this gene result
            in an autosomal recessive form of intellectual disability.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Jul 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AK225419.1, AK023996.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338134.8/ ENSP00000337850.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA129265.1         46-48
            4-964               AK023996.1         4-964
            965-1286            AF105369.1         942-1263
            1287-1636           AK225419.1         1276-1625
FEATURES             Location/Qualifiers
     source          1..1636
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.32"
     gene            1..1636
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /note="kaptin, actin binding protein"
                     /db_xref="GeneID:11133"
                     /db_xref="HGNC:HGNC:6404"
                     /db_xref="MIM:615620"
     exon            1..285
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1370
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /note="isoform 1 is encoded by transcript variant 1;
                     actin-associated protein 2E4; KICSTOR complex protein
                     kaptin; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="KICSTOR complex protein kaptin isoform 1"
                     /protein_id="NP_008990.2"
                     /db_xref="CCDS:CCDS42583.1"
                     /db_xref="GeneID:11133"
                     /db_xref="HGNC:HGNC:6404"
                     /db_xref="MIM:615620"
                     /translation="MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAA
                     TLKGKVLGFRYQDLRQKIRPVAKELQFNYIPVDAEIVSIDTFNKSPPKRGLVVGITFI
                     KDSGDKGSPFLNIYCDYEPGSEYNLDSIAQSCLNLELQFTPFQLCHAEVQVGDQLETV
                     FLLSGNDPAIHLYKENEGLHQFEEQPVENLFPELTNLTSSVLWLDVHNFPGTSRRLSA
                     LGCQSGYVRVAHVDQRSREVLQMWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVL
                     VASMLEPAVVYRDLLNRGLEDQLLLPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQE
                     LLCYKYRGPESGLPEAQHGFHLLWQRSFSSPLLAMAHVDLTGDGLQELAVVSLKGVHI
                     LQHSLIQASELVLTRLRHQVEQRRRRLQGLEDGAGAGPAENAAS"
     exon            286..368
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            369..453
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            454..508
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            509..584
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            585..658
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            659..768
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            769..846
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            847..922
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1058
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1241
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1636
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1636
                     /gene="KPTN"
                     /gene_synonym="2E4; KICS4; MRT41"
                     /note="major polyA site"
ORIGIN      
        1 gtaggttggg tagtgcgggt tggggcgggg gctgcggaga gggtgcttaa ctgaggggca
       61 tgatggggga ggcggccgtg gccgcggggc cttgtccgtt gcgcgaggac agcttcacgc
      121 gcttctcgtc gcagagcaat gtgtacgggc tggcaggcgg cgccggcggg cgcggggagc
      181 tgctggccgc cacccttaaa ggcaaggtgc tcggcttccg ctaccaagac ctccgacaga
      241 aaatccggcc agtggccaag gagctgcagt tcaactacat tcccgtggat gcggagattg
      301 tctccatcga cactttcaac aagtcacccc ccaagcgggg tctggttgtg gggatcacgt
      361 tcatcaagga ttcaggggac aagggcagcc ccttcctgaa catttactgc gactacgagc
      421 ccggctctga gtacaacctt gactctattg cccagagctg cctgaacctg gagctccagt
      481 tcactccgtt ccagctgtgc catgcggagg tccaggtcgg ggatcaactt gagactgtgt
      541 ttctcttgag tgggaacgac ccggccattc atctctacaa ggagaacgag gggctgcatc
      601 agtttgagga acagcccgtg gaaaacctct tcccagagct gacgaacctg accagtagcg
      661 tcctctggct ggacgtccac aacttccccg gcacgtcccg gcgcctctca gctctgggct
      721 gtcagagtgg ttatgtccgt gtcgcccacg tggaccagcg gagtcgagag gttctgcaga
      781 tgtggtcggt cctgcaggac ggtcccatct cccgagtgat tgtgttcagc ctctcggccg
      841 ccaaggagac caaggacagg ccactacaag atgagtacag cgtgctcgtg gccagcatgt
      901 tggagccagc agtggtgtat cgggacctgc tgaaccgggg tcttgaagac cagcttctcc
      961 tgcccggcag tgaccagttt gacagcgtcc tctgcagcct ggtcaccgat gtggatttgg
     1021 atgggcggcc agaagtcctg gtggccacct atggacagga actgctgtgt tataagtacc
     1081 ggggcccaga gtcggggctt cctgaggccc agcacgggtt ccatctgctg tggcagcgga
     1141 gcttctccag tcccctgctg gccatggctc acgtggacct gaccggggat gggctgcagg
     1201 agcttgccgt ggtctccctg aagggcgtgc acatcctgca gcacagcctg attcaggcct
     1261 cagagctggt cttgacccgg cttcgacatc aagtggagca gaggagacgt cggctacagg
     1321 ggttggagga cggggcaggt gcagggcctg ctgagaatgc agcctcttaa gcacccatgc
     1381 acccactctt cccagacctg gggcgactca tggcgtgctc acctccagcc gctggtgggg
     1441 ggtgtcctga aggacaggat gctctcccca gacctcccca gggtggtgaa gctgtgccct
     1501 ggggccccag ctaacccact cctctctctg tacgtcaatg tccctatttg aaagcaggga
     1561 tgatcccatt ccaccctgtc cactctggat gagaattggc cacctgatgg ttatttatac
     1621 gtccagaaga acatca
//
