LOCUS       NM_014592               2030 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens potassium voltage-gated channel interacting protein 1
            (KCNIP1), transcript variant 2, mRNA.
ACCESSION   NM_014592
VERSION     NM_014592.4
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 2030)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2030)
  AUTHORS   Xu,Y., Shi,W., Song,R., Long,W., Guo,H., Yuan,S. and Zhang,T.
  TITLE     Divergent patterns of genic copy number variation in KCNIP1 gene
            reveal risk locus of type 2 diabetes in Chinese population
  JOURNAL   Endocr J 65 (5), 537-545 (2018)
   PUBMED   29491224
  REMARK    GeneRIF: This is the first copy number variation association study
            of the KCNIP1 gene in Chinese population, and these data indicated
            that KCNIP1 might function as a type 2 diabetes-susceptibility gene
            whose dysregulation alters insulin production.
REFERENCE   3  (bases 1 to 2030)
  AUTHORS   Yuan,F.F., Gu,X., Huang,X., Hou,Y.W., Zhong,Y., Lin,J. and Wu,J.
  TITLE     Attention-deficit/hyperactivity disorder associated with KChIP1
            rs1541665 in Kv channels accessory proteins
  JOURNAL   PLoS One 12 (11), e0188678 (2017)
   PUBMED   29176790
  REMARK    GeneRIF: the current study provides evidence that genetic variants
            of Kv accessory proteins may contribute to the susceptibility of
            Attention-deficit/hyperactivity disorder.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2030)
  AUTHORS   Gomez-Suaga,P., Paillusson,S., Stoica,R., Noble,W., Hanger,D.P. and
            Miller,C.C.J.
  TITLE     The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates
            Autophagy
  JOURNAL   Curr Biol 27 (3), 371-385 (2017)
   PUBMED   28132811
  REMARK    GeneRIF: Study shows that the VAPB-PTPIP51 tethers regulate
            autophagy and demonstrates that overexpression of VAPB or PTPIP51
            to tighten endoplasmic reticulum-mitochondria contacts impairs,
            whereas small interfering RNA-mediated loss of VAPB or PTPIP51 to
            loosen contacts stimulates, autophagosome formation.
REFERENCE   5  (bases 1 to 2030)
  AUTHORS   Tsai,C.T., Hsieh,C.S., Chang,S.N., Chuang,E.Y., Ueng,K.C.,
            Tsai,C.F., Lin,T.H., Wu,C.K., Lee,J.K., Lin,L.Y., Wang,Y.C.,
            Yu,C.C., Lai,L.P., Tseng,C.D., Hwang,J.J., Chiang,F.T. and Lin,J.L.
  TITLE     Genome-wide screening identifies a KCNIP1 copy number variant as a
            genetic predictor for atrial fibrillation
  JOURNAL   Nat Commun 7, 10190 (2016)
   PUBMED   26831368
  REMARK    GeneRIF: These studies showed that a common copy number variation
            in KCNIP1 gene is a genetic predictor of atrial fibrillation risk
            possibly pointing to a functional pathway.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2030)
  AUTHORS   Hatano,N., Ohya,S. and Imaizumi,Y.
  TITLE     Functional interaction between KChIP1 and GFP-fused Kv4.3L
            co-expressed in HEK293 cells
  JOURNAL   Pflugers Arch 444 (1-2), 80-88 (2002)
   PUBMED   11976919
REFERENCE   7  (bases 1 to 2030)
  AUTHORS   Bahring,R., Dannenberg,J., Peters,H.C., Leicher,T., Pongs,O. and
            Isbrandt,D.
  TITLE     Conserved Kv4 N-terminal domain critical for effects of Kv
            channel-interacting protein 2.2 on channel expression and gating
  JOURNAL   J Biol Chem 276 (26), 23888-23894 (2001)
   PUBMED   11287421
REFERENCE   8  (bases 1 to 2030)
  AUTHORS   Nakamura,T.Y., Nandi,S., Pountney,D.J., Artman,M., Rudy,B. and
            Coetzee,W.A.
  TITLE     Different effects of the Ca(2+)-binding protein, KChIP1, on two Kv4
            subfamily members, Kv4.1 and Kv4.2
  JOURNAL   FEBS Lett 499 (3), 205-209 (2001)
   PUBMED   11423117
REFERENCE   9  (bases 1 to 2030)
  AUTHORS   An,W.F., Bowlby,M.R., Betty,M., Cao,J., Ling,H.P., Mendoza,G.,
            Hinson,J.W., Mattsson,K.I., Strassle,B.W., Trimmer,J.S. and
            Rhodes,K.J.
  TITLE     Modulation of A-type potassium channels by a family of calcium
            sensors
  JOURNAL   Nature 403 (6769), 553-556 (2000)
   PUBMED   10676964
REFERENCE   10 (bases 1 to 2030)
  AUTHORS   Zhu,X.R., Wulf,A., Schwarz,M., Isbrandt,D. and Pongs,O.
  TITLE     Characterization of human Kv4.2 mediating a rapidly-inactivating
            transient voltage-sensitive K+ current
  JOURNAL   Recept Channels 6 (5), 387-400 (1999)
   PUBMED   10551270
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC008619.7, BC035032.1,
            BF514334.1, AI884645.1, AF199597.1 and AY170821.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_014592.3.
            
            Summary: This gene encodes a member of the family of cytosolic
            voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs),
            which belong to the neuronal calcium sensor (NCS) family of the
            calcium binding EF-hand proteins. They associate with Kv4 alpha
            subunits to form native Kv4 channel complexes. The encoded protein
            may regulate rapidly inactivating (A-type) currents, and hence
            neuronal membrane excitability, in response to changes in the
            concentration of intracellular calcium. Alternative splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (2, also known as KCNP1-Ib
            deltaII) uses an alternate in-frame splice site in the 5' coding
            region compared to variant 5. It encodes isoform 2 which is shorter
            than isoform 5.
            
            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 :: BC035032.1, SRR3476690.275710.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328939.9/ ENSP00000329686.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                AC008619.7         62394-62409         c
            17-217              BC035032.1         6-206
            218-250             BF514334.1         1-33
            251-553             AI884645.1         1-303
            554-1204            AF199597.1         1-651
            1205-1764           BC035032.1         1194-1753
            1765-1851           AY170821.1         1425-1511
            1852-2030           BC035032.1         1841-2019
FEATURES             Location/Qualifiers
     source          1..2030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q35.1"
     gene            1..2030
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /note="potassium voltage-gated channel interacting protein
                     1"
                     /db_xref="GeneID:30820"
                     /db_xref="HGNC:HGNC:15521"
                     /db_xref="MIM:604660"
     exon            1..614
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     CDS             554..1204
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /note="isoform 2 is encoded by transcript variant 2;
                     A-type potassium channel modulatory protein 1; vesicle
                     APC-binding protein; potassium channel interacting protein
                     1; Kv channel interacting protein 1; A-type potassium
                     channel modulatory protein KCNIP1"
                     /codon_start=1
                     /product="A-type potassium channel modulatory protein
                     KCNIP1 isoform 2"
                     /protein_id="NP_055407.1"
                     /db_xref="CCDS:CCDS4374.1"
                     /db_xref="GeneID:30820"
                     /db_xref="HGNC:HGNC:15521"
                     /db_xref="MIM:604660"
                     /translation="MGAVMGTFSSLQTKQRRPSKDKIEDELEMTMVCHRPEGLEQLEA
                     QTNFTKRELQVLYRGFKNECPSGVVNEDTFKQIYAQFFPHGDASTYAHYLFNAFDTTQ
                     TGSVKFEDFVTALSILLRGTVHEKLRWTFNLYDINKDGYINKEEMMDIVKAIYDMMGK
                     YTYPVLKEDTPRQHVDVFFQKMDKNKDGIVTLDEFLESCQEDDNIMRSLQLFQNVM"
     exon            615..739
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            740..809
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            810..880
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            881..988
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1093
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1156
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..2030
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2001..2006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /note="hexamer: AATAAA"
     polyA_site      2030
                     /gene="KCNIP1"
                     /gene_synonym="KCHIP1; VABP"
                     /note="major polyA site"
ORIGIN      
        1 gactctcgcc ccgagcgctg gcagcaggca gcaggcagca ggcgggcgcg ctgtggctcc
       61 gcgccgcgcg gtccgggctc tgttcattca tgattggtac tcggccctcc gagacccagc
      121 ccgagcgcag ggaggggagc cgagtgtgcg gcaggagggg cgggcggacg gcggctcccg
      181 caccgcacgc ggcgctggct cggcagcctc ggccgggcgg ccgctctggc cccgtgtcca
      241 gtgccaggca ggcttcaggg caccgtcctc ggccctgggc gagggaaccg ccgggccggg
      301 tcctcgcgcg gggaagcggt tccgaaggct cgcggggagc ggctagccct gagtccctgc
      361 atgtgcgggg ctgaagaagg aagccagaag cctcctagcc tcgcctccac gcttgctgaa
      421 taccaagctg caggcgagct gccgggcgct tttctctcct ccaattcaga gtagacaaac
      481 cacggggatt tctttccagg gtaggggagg ggccgggccc ggggtcccaa ctcgcactca
      541 agtcttcgct gccatggggg ccgtcatggg caccttctca tctctgcaaa ccaaacaaag
      601 gcgaccctcg aaagataaga ttgaagatga gctggagatg accatggttt gccatcggcc
      661 cgagggactg gagcagctcg aggcccagac caacttcacc aagagggagc tgcaggtcct
      721 ttatcgaggc ttcaaaaatg agtgccccag tggtgtggtc aacgaagaca cattcaagca
      781 gatctatgct cagtttttcc ctcatggaga tgccagcacg tatgcccatt acctcttcaa
      841 tgccttcgac accactcaga caggctccgt gaagttcgag gactttgtaa ccgctctgtc
      901 gattttattg agaggaactg tccacgagaa actaaggtgg acatttaatt tgtatgacat
      961 caacaaggac ggatacataa acaaagagga gatgatggac attgtcaaag ccatctatga
     1021 catgatgggg aaatacacat atcctgtgct caaagaggac actccaaggc agcatgtgga
     1081 cgtcttcttc cagaaaatgg acaaaaataa agatggcatc gtaactttag atgaatttct
     1141 tgaatcatgt caggaggacg acaacatcat gaggtctctc cagctgtttc aaaatgtcat
     1201 gtaactggtg acactcagcc attcagctct cagagacatt gtactaaaca accaccttaa
     1261 caccctgatc tgcccttgtt ctgattttac acaccaactc ttgggacaga aacacctttt
     1321 acactttgga agaattctct gctgaagact ttctatggaa cccagcatca tgtggctcag
     1381 tctctgattg ccaactcttc ctctttcttc ttcttgagag agacaagatg aaatttgagt
     1441 ttgttttgga agcatgctca tctcctcaca ctgctgccct atggaaggtc cctctgctta
     1501 agcttaaaca gtagtgcaca aaatatgctg cttacgtgcc cccagcccac tgcctccaag
     1561 tcaggcagac cttggtgaat ctggaagcaa gaggacctga gccagatgca caccatctct
     1621 gatggcctcc caaaccaatg tgcctgtttc tcttcctttg gtgggaagaa tgagagttat
     1681 ccagaacaat taggatctgt catgaccaga ttgggagagc cagcacctaa catatgtggg
     1741 ataggactga attattaagc atgatattgt ctgatgaccc aaactgccca tgtcatttgt
     1801 ttccagaaac gaggaccaat aattctctca cactggcatt tgtgctggta gtacaagtcc
     1861 tttaatatgt ccaggaaggg agccattgcc cagtggtcca tatctccacc acatcccctg
     1921 cttgagccca gcgctgcatg tccctcccaa gaagtccaga atgcctgcaa attgctgtaa
     1981 ttttatacca tgttctaacc aataaacaga actatttctt acactctcaa
//
