LOCUS       NM_144688               2343 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens KASH domain containing 5 (KASH5), mRNA.
ACCESSION   NM_144688
VERSION     NM_144688.5
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 2343)
  AUTHORS   Hou,X., Zeb,A., Dil,S., Zhou,J., Zhang,H., Shi,B., Muhammad,Z.,
            Khan,I., Zaman,Q., Shah,W.A., Jiang,X., Wu,L., Ma,H. and Shi,Q.
  TITLE     A homozygous KASH5 frameshift mutation causes diminished ovarian
            reserve, recurrent miscarriage, and non-obstructive azoospermia in
            humans
  JOURNAL   Front Endocrinol (Lausanne) 14, 1128362 (2023)
   PUBMED   36864840
  REMARK    GeneRIF: A homozygous KASH5 frameshift mutation causes diminished
            ovarian reserve, recurrent miscarriage, and non-obstructive
            azoospermia in humans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2343)
  AUTHORS   Wu,H., Zhang,X., Hua,R., Li,Y., Cheng,L., Li,K., Liu,Y., Gao,Y.,
            Shen,Q., Wang,G., Lv,M., Xu,Y., He,X., Cao,Y. and Liu,M.
  TITLE     Homozygous missense mutation in CCDC155 disrupts the transmembrane
            distribution of CCDC155 and SUN1, resulting in non-obstructive
            azoospermia and premature ovarian insufficiency in humans
  JOURNAL   Hum Genet 141 (11), 1795-1809 (2022)
   PUBMED   35587281
  REMARK    GeneRIF: Homozygous missense mutation in CCDC155 disrupts the
            transmembrane distribution of CCDC155 and SUN1, resulting in
            non-obstructive azoospermia and premature ovarian insufficiency in
            humans.
REFERENCE   3  (bases 1 to 2343)
  AUTHORS   Zhang,Q., Tao,C., Gao,S., Li,S., Xu,B., Ke,H., Wang,Y., Zhang,F.,
            Qin,Y., Zhang,L. and Guo,T.
  TITLE     Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency
            by Disordered Meiotic Homologous Pairing
  JOURNAL   J Clin Endocrinol Metab 107 (9), 2589-2597 (2022)
   PUBMED   35708642
  REMARK    GeneRIF: Homozygous Variant in KASH5 Causes Premature Ovarian
            Insufficiency by Disordered Meiotic Homologous Pairing.
REFERENCE   4  (bases 1 to 2343)
  AUTHORS   Yang,C., Lin,X., Ji,Z., Huang,Y., Zhang,L., Luo,J., Chen,H., Li,P.,
            Tian,R., Zhi,E., Hong,Y., Zhou,Z., Zhang,F., Li,Z. and Yao,C.
  TITLE     Novel bi-allelic variants in KASH5 are associated with meiotic
            arrest and non-obstructive azoospermia
  JOURNAL   Mol Hum Reprod 28 (7) (2022)
   PUBMED   35674372
  REMARK    GeneRIF: Novel bi-allelic variants in KASH5 are associated with
            meiotic arrest and non-obstructive azoospermia.
REFERENCE   5  (bases 1 to 2343)
  AUTHORS   Bentebbal,S.A., Meqbel,B.R., Salter,A., Allan,V., Burke,B. and
            Horn,H.F.
  TITLE     A human infertility-associated KASH5 variant promotes mitochondrial
            localization
  JOURNAL   Sci Rep 11 (1), 10133 (2021)
   PUBMED   33980926
  REMARK    GeneRIF: A human infertility-associated KASH5 variant promotes
            mitochondrial localization.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2343)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2343)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2343)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   9  (bases 1 to 2343)
  AUTHORS   Morimoto,A., Shibuya,H., Zhu,X., Kim,J., Ishiguro,K., Han,M. and
            Watanabe,Y.
  TITLE     A conserved KASH domain protein associates with telomeres, SUN1,
            and dynactin during mammalian meiosis
  JOURNAL   J Cell Biol 198 (2), 165-172 (2012)
   PUBMED   22826121
REFERENCE   10 (bases 1 to 2343)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB024870.1, AK057220.1 and DB517121.1.
            
            On Nov 22, 2018 this sequence version replaced NM_144688.4.
            
            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 :: AK057220.1, BC029811.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000447857.8/ ENSP00000404220.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DB024870.1         32-47
            17-2342             AK057220.1         17-2342
            2343-2343           DB517121.1         425-425
FEATURES             Location/Qualifiers
     source          1..2343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..2343
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /note="KASH domain containing 5"
                     /db_xref="GeneID:147872"
                     /db_xref="HGNC:HGNC:26520"
                     /db_xref="MIM:618125"
     exon            1..79
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            80..217
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     CDS             175..1863
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /EC_number="3.1.3.48"
                     /note="KASH domain-containing protein 5; coiled-coil
                     domain containing 155"
                     /codon_start=1
                     /product="protein KASH5"
                     /protein_id="NP_653289.3"
                     /db_xref="CCDS:CCDS46140.1"
                     /db_xref="GeneID:147872"
                     /db_xref="HGNC:HGNC:26520"
                     /db_xref="MIM:618125"
                     /translation="MDLPEGPVGGPTAEMYLRERPEEARLGMPVSLEEQILNSTFEAC
                     DPQRTGTVAVAQVLAYLEAVTGQGPQDARLQTLANSLDPNGEGPKATVDLDTFLVVMR
                     DWIAACQLHGGLELEEETAFQGALTSRQLPSGCPEAEEPANLESFGGEDPRPELQATA
                     DLLSSLEDLELSNRRLVGENAKLQRSMETAEEGSARLGEEILALRKQLHSTQQALQFA
                     KAMDEELEDLKTLARSLEEQNRSLLAQARQAEKEQQHLVAEMETLQEENGKLLAERDG
                     VKKRSQELAMEKDTLKRQLFECEHLICQRDTILSERTRDVESLAQTLEEYRVTTQELR
                     LEISRLEEQLSQTYEGPDELPEGAQLRRVGWTELLPPSLGLEIEAIRQKQEVATADLS
                     NPLCGVWQWEEVIHETSEETEFPSEAPAGGQRNFQGEPAHPEEGRKEPSMWLTRREEE
                     EDAESQVTADLPVPLGAPRPGDIPENPPERPARRELQQALVPVMKKLVPVRRRAWGQL
                     CLPPQRLRVTRHPLIPAPVLGLLLLLLLSVLLLGPSPPPTWPHLQLCYLQPPPV"
     exon            218..322
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            323..509
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            510..574
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            575..641
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            642..803
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            804..921
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            922..972
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1050
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1107
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1167
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1232
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1320
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1443
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1502
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1503..1548
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1613
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1614..1721
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..2343
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /note="hexamer: AATAAA"
     polyA_site      2343
                     /gene="KASH5"
                     /gene_synonym="CCDC155; POF22; SPGF88"
                     /note="major polyA site"
ORIGIN      
        1 acgcgcacct cccccaactc aactgccgtt cgtcgttcgt ggatgtccgt tgtgtcccga
       61 gactaggacg tggctccagg agtgctcggg ccagctggtc cttttcccat ccctccccat
      121 gaaggaggga ggctggtagc tttgccagca gctgcgccgc ggcaggggtg gcccatggac
      181 ctgcccgagg gcccggtggg tggccccact gcggaaatgt acctccggga gcggcctgag
      241 gaggcaaggc tgggaatgcc ggtcagcttg gaggagcaaa tactcaactc cacgttcgaa
      301 gcttgtgacc ctcagaggac aggcactgtg gctgtggccc aggtgctggc ctacctggag
      361 gctgtgacag gccagggccc ccaggatgca cgcctccaaa cattggccaa cagcctggac
      421 cccaatgggg agggccctaa ggccactgtg gacttggaca ctttcctggt tgtcatgcgt
      481 gactggattg ctgcctgtca actacatggg ggattagagc tggaagagga gaccgccttc
      541 cagggagccc tgacctcccg gcaactgcca tctggatgcc cagaagctga ggagccagcc
      601 aacctggaga gcttcggagg cgaagacccc agacccgagc tacaagccac agctgacctg
      661 ctgagcagcc tggaggacct ggagctcagc aaccgacgtc tggttgggga gaatgccaaa
      721 ttgcagcgga gcatggagac agctgaggag gggtcagcac gccttgggga ggagatcttg
      781 gctctgcgta agcagcttca cagcacccag caggccctgc agtttgccaa ggccatggat
      841 gaggagctgg aggacctgaa gactctggcc aggagcctgg aggaacagaa tcgcagcctt
      901 ctggcccaag cccggcaggc ggaaaaggag cagcagcatc tggtggctga gatggagact
      961 ctgcaggagg agaacgggaa gctgcttgcc gagcgggatg gagtgaaaaa gagaagtcag
     1021 gagctggcca tggagaagga cactttgaag cggcagctct ttgagtgtga acacctcatt
     1081 tgccaaagag acaccatcct ctctgagcgc actcgcgatg tggagagcct ggcccagacc
     1141 ctggaagaat acagagtgac gacgcaggaa ctgaggctgg agatttcacg cctggaggag
     1201 cagctgagtc agacctatga ggggcccgat gagctacctg aaggggccca gctgagaaga
     1261 gtgggctgga ccgagctgct acccccatcg ctgggcttgg agatcgaggc cattcgacag
     1321 aaacaggaag tggcaactgc tgatctctcc aaccctctgt gtggggtgtg gcagtgggag
     1381 gaagtcatcc atgagaccag tgaggaaact gagtttccat ctgaagcccc agctggggga
     1441 cagagaaact tccagggaga gccagcgcac cctgaagaag gaaggaagga gccatccatg
     1501 tggttgacca gaagagagga agaggaggat gcagagagcc aggtcacggc tgatctccct
     1561 gtccctctag gagcccctcg ccctggagac atcccagaaa accctccaga gagacctgcg
     1621 cggcgggaac tccagcaagc cctggtgcct gtgatgaaaa agctggtccc agtcaggagg
     1681 agggcctggg gccagctctg cctgccccca cagcggctca gagtcactcg acatccactg
     1741 atcccagctc ctgtcctggg cctgctgctg ctgctgctgc tctctgtcct gctgcttggc
     1801 ccgtccccac ctcccacctg gccccacctc cagctctgct acctccagcc ccctccagtg
     1861 tgagaggctc tacttgcccc tcagagcagt gtctagctca ataaatcccc tggccctctc
     1921 tccactggga tccccattgt tagtccactg ttgcgcaggc ttaccctaga tagagtacag
     1981 gggatccaca tccctgtatt tttatgtgaa gtctcctagt tttttaatgc tgacatttct
     2041 taacaatagc aaaactcccc cagtaatgga ttaagcacta aggattattc cctcacaaaa
     2101 caagcctggc gagggcagct gtgggcacac agctaagtct cggttgcctt ggggtcaggg
     2161 cctcagtgat tctcctgtcc cctccctcat gctcaggagt tggcagttgt agcttcctac
     2221 atcacatctg cgggaaacgg aaatttcttc cttccttttt ataaagagag gcagtagcct
     2281 cagtgtgcag tgggtagatt caaatcatat tcataataaa agagaagcag ttgcctgccc
     2341 aga
//
