LOCUS       NM_144696               3391 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens axonemal dynein light chain domain containing 1
            (AXDND1), transcript variant 1, mRNA.
ACCESSION   NM_144696
VERSION     NM_144696.6
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 3391)
  AUTHORS   Houston,B.J., Nguyen,J., Merriner,D.J., O'Connor,A.E., Lopes,A.M.,
            Nagirnaja,L., Friedrich,C., Kliesch,S., Tuttelmann,F., Aston,K.I.,
            Conrad,D.F., Hobbs,R.M., Dunleavy,J.E.M. and O'Bryan,M.K.
  TITLE     AXDND1 is required to balance spermatogonial commitment and for
            sperm tail formation in mice and humans
  JOURNAL   Cell Death Dis 15 (7), 499 (2024)
   PUBMED   38997255
  REMARK    GeneRIF: AXDND1 is required to balance spermatogonial commitment
            and for sperm tail formation in mice and humans.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3391)
  AUTHORS   Ma,Q., Cao,C., Zhuang,C., Luo,X., Li,X., Wan,H., Ye,J., Chen,F.,
            Cui,L., Zhang,Y., Wen,Y., Yuan,S. and Gui,Y.
  TITLE     AXDND1, a novel testis-enriched gene, is required for
            spermiogenesis and male fertility
  JOURNAL   Cell Death Discov 7 (1), 348 (2021)
   PUBMED   34759295
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3391)
  AUTHORS   Pineau,C., Hikmet,F., Zhang,C., Oksvold,P., Chen,S., Fagerberg,L.,
            Uhlen,M. and Lindskog,C.
  TITLE     Cell Type-Specific Expression of Testis Elevated Genes Based on
            Transcriptomics and Antibody-Based Proteomics
  JOURNAL   J Proteome Res 18 (12), 4215-4230 (2019)
   PUBMED   31429579
REFERENCE   4  (bases 1 to 3391)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 3391)
  AUTHORS   Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
  TITLE     Follow-up of a major linkage peak on chromosome 1 reveals
            suggestive QTLs associated with essential hypertension: GenNet
            study
  JOURNAL   Eur J Hum Genet 17 (12), 1650-1657 (2009)
   PUBMED   19536175
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3391)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3391)
  AUTHORS   Baranzini,S.E., Wang,J., Gibson,R.A., Galwey,N., Naegelin,Y.,
            Barkhof,F., Radue,E.W., Lindberg,R.L., Uitdehaag,B.M.,
            Johnson,M.R., Angelakopoulou,A., Hall,L., Richardson,J.C.,
            Prinjha,R.K., Gass,A., Geurts,J.J., Kragt,J., Sombekke,M.,
            Vrenken,H., Qualley,P., Lincoln,R.R., Gomez,R., Caillier,S.J.,
            George,M.F., Mousavi,H., Guerrero,R., Okuda,D.T., Cree,B.A.,
            Green,A.J., Waubant,E., Goodin,D.S., Pelletier,D., Matthews,P.M.,
            Hauser,S.L., Kappos,L., Polman,C.H. and Oksenberg,J.R.
  TITLE     Genome-wide association analysis of susceptibility and clinical
            phenotype in multiple sclerosis
  JOURNAL   Hum Mol Genet 18 (4), 767-778 (2009)
   PUBMED   19010793
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX647935.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_144696.5.
            
            Transcript Variant: This variant (1) represents the longer,
            protein-coding transcript.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX647935.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367618.8/ ENSP00000356590.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2097              BX647935.1         253-2349
            2098-3391           BX647935.1         2351-3644
FEATURES             Location/Qualifiers
     source          1..3391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.2"
     gene            1..3391
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /note="axonemal dynein light chain domain containing 1"
                     /db_xref="GeneID:126859"
                     /db_xref="HGNC:HGNC:26564"
     exon            1..30
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            31..233
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..3175
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /codon_start=1
                     /product="axonemal dynein light chain domain-containing
                     protein 1"
                     /protein_id="NP_653297.3"
                     /db_xref="CCDS:CCDS30948.1"
                     /db_xref="GeneID:126859"
                     /db_xref="HGNC:HGNC:26564"
                     /translation="MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMV
                     DRSKLLPTSLQNEFIPKEVLLSLTYAANAGPCPENLLPPKKIKTPKGTLPRLVDHVWH
                     HPVRRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHLARSLQSHDGV
                     IVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLLTDSENRLLLFPSMKPNKR
                     VEVAQLNDVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVD
                     CADRGELLSKVRERYVQMLDQIARQMIDFYKDLVTQRVMDQRILEELYNFKHVIEELT
                     RELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEYHDLYTLQRERMENDMKK
                     LVAERDIWSSATYELALKVIERNRVILARRLYLNEKGWNKYTKHFIILLSNKDTEDLA
                     LLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDILSPNKGNI
                     FNSVLLDFKQWQKILNEKKEEFTGDVLLSKYDTLKIIKHLQENWADIGLGIFNRHKSL
                     EGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNGYSKILPSLISSLDFCSFKLENLEF
                     PDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHIDVDSVSVLQAYIFNMIQQWLLK
                     IGNEINNGNIELQHHMDELHISMIQWMVNLLILMIPNFTDQDCLLKLEEESAEKHDIG
                     VARLELDAIELTRKLYQYSSYLSSCCKGMVTAMALSKSTNSHKNATEDLYEVDKLKKE
                     CYEWINTCSCLLSNIKGRKITLLTYEEIERLLEEEAVKEFIEPEIDESFKEDEEESKE
                     DRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETDVLSSWRESAKQGTL
                     AQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRK
                     ESKEEKENQDEREVKEEEEQQEEEEVRSAENSSKSPKKGH"
     exon            234..406
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            407..510
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            511..631
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            632..717
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            718..774
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            775..877
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            878..999
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1140
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1245
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1366
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1367..1468
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1623
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1624..1699
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1934
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            1935..2133
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2134..2227
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2228..2427
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2428..2524
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2525..2632
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2633..2746
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2747..2851
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2852..2934
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            2935..3167
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     exon            3168..3391
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3370..3375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /note="hexamer: AATAAA"
     polyA_site      3391
                     /gene="AXDND1"
                     /gene_synonym="C1orf125"
                     /note="major polyA site"
ORIGIN      
        1 caaaggagga agtgagcgga tgctgggcgg gactatgtgg cagcctgcaa gtcccagtgc
       61 ggcgctgatt tgtgtctaaa ttagctttcc ggaggactat ttcaaattac taaagagata
      121 ggaggcattg tttattatgt ctctcccgaa aacgccctcc accccgctaa actctacatc
      181 aacatctgag agcaaaaagt taaaagtgtc tgtagccaag gaagggacaa gaggacttcc
      241 tgagctaaag gagaaaaaaa atatggtgga tcgttcaaaa ctccttccta cttcccttca
      301 gaatgagttc attcccaaag aagttcttct ttctctgacc tatgcggcca atgctggtcc
      361 ttgtcctgaa aacttactac ctcctaagaa aattaaaacc ccaaagggca ctcttccacg
      421 ccttgtagac catgtctggc atcaccctgt tcgaaggaat aaattcaaat acctgattga
      481 ccatcccgtc tccctcacag gagctggaag ggatatttct tttctgtacg atgtaacata
      541 tgccaaagga cagactaggg agaaggcagt ttgtccccca catttggccc gttcattaca
      601 gtcacatgat ggtgtcattg tgccccataa gccaaagaca ctaacagata ctttgattcc
      661 tgaagaattt catattgtgt caagtacagg agtttcaggt ttggagtgtt atgatgacaa
      721 atacactact ctcctcacag atagtgaaaa caggctattg ctcttcccat ccatgaaacc
      781 taataaaaga gtagaagtgg cccagctgaa tgatgtgatg gatactatgc tagagagggc
      841 tggtgtggaa aatcaggaat atacaggacc aacgaagatg cacaaactac tacatatatt
      901 gaagaaggaa cagaccattt acaacatgat atttcatgaa cttattcgac aagtcagtgt
      961 ggactgtgca gacagaggag aacttctgtc taaagtcaga gagaggtatg tgcaaatgct
     1021 tgaccagatt gctcggcaga tgattgattt ctacaaagac ttggtaactc agcgagtgat
     1081 ggaccagcgc attttagaag aattgtataa tttcaagcat gttattgaag aactgaccag
     1141 ggaactgtgt ctagttcggg cacatgatgt gaaattaaca aaggaaacag aaaaagccca
     1201 caaggatttg gcacaagctc ttttaaatgc ggaaaagaat gccaaaatag tagaagaata
     1261 tcatgactta tatacattac aaagagaaag gatggagaat gatatgaaaa agttagtggc
     1321 agaaagagat atctggagct cagccacata tgaattggcc ctgaaggtga ttgaaagaaa
     1381 tagagtcata ttggctagaa gactttacct taatgaaaaa ggctggaata aatacactaa
     1441 gcatttcatc atactgctat caaacaagga cactgaagac cttgcactgt tgcagaagtt
     1501 gacacaaaaa tggagaaact tagtgaataa acttaaacaa gaggtagaac aaatggaaga
     1561 gtctacaagc gagacactga aaattgttaa ggatgggctt atcaaatggc aggagttctt
     1621 caatgaaaaa gacattttat cccctaataa gggaaatata tttaattcag ttcttttaga
     1681 cttcaaacag tggcagaaga tcctgaatga gaaaaaagaa gagtttactg gggatgttct
     1741 actgtcaaaa tacgatactc tcaagattat taaacattta caggaaaact gggcagatat
     1801 tgggcttggg atatttaatc ggcataaaag tttggagggg gagatgccat cagagcgaca
     1861 gtacatggag gaaattatca aaaacataca aaaactctac aaagaatatg aaataagaat
     1921 aaatggggac aatggttact ccaaaattct tccaagtttg attagttctc ttgacttctg
     1981 ttctttcaag ttggaaaacc tggagtttcc tgatacgcct cttgaagaat ggcaggaaat
     2041 agatgaaaaa attaatgaaa tgaaatcaca cttggatata ttgttaaacc ttactggtat
     2101 tgttccacag cacatagatg tggattctgt ttcggtactc caagcgtata tatttaacat
     2161 gattcaacaa tggcttttga agataggcaa tgaaattaac aacggtaaca ttgaacttca
     2221 gcaccacatg gatgagttac atatatctat gatccagtgg atggtaaact tgctgatttt
     2281 aatgataccc aactttactg accaagactg tctcctaaag ttggaggagg aaagtgctga
     2341 gaaacatgat ataggagttg cgcgattgga gctagatgcg attgaactga caaggaagtt
     2401 gtaccaatac tccagctatt tgagcagttg ttgcaaaggg atggtaacag caatggctct
     2461 gagtaaatcc actaactcac acaaaaatgc tactgaagac ctttatgagg tggataagtt
     2521 gaagaaagaa tgttatgaat ggatcaacac atgctcttgc ctcctttcta atatcaaagg
     2581 cagaaaaatt acattattga catatgaaga aatagagcgg ctacttgaag aggaggctgt
     2641 aaaagaattc attgagcctg aaatagacga gtcttttaaa gaagatgaag aagaaagtaa
     2701 ggaggatagg aaacttcagg aggaaaataa agagagagca gaagaacaac cttcaacatc
     2761 tacagagaag gaaaaactca ttcgattcat tggagaagat gaaaatgttc attccaaacc
     2821 tctatttgaa acagatgtgt tgtcttcctg gagagagtca gctaagcaag gtacattggc
     2881 ccaaaaatat cttgaagcaa tggctgtaat tgaacatatg caggagaagt tactggaggt
     2941 tgaaaataga gccagacagg cagaggagaa gtttgaagat gcatatgaga aacttcatca
     3001 tacccttata aaaaataaag atctagagga attagtcatg acatcaagaa aggagtctaa
     3061 agaagagaaa gaaaatcaag atgaaagaga agtaaaagaa gaagaagaac aacaagaaga
     3121 agaagaagtc aggtcagcag aaaattcctc aaaatctcca aagaaaggtc actgaatcca
     3181 aggcaacctg tggaaagaag aattcagatg tcagtgggag cctccaggtg ggaggagagc
     3241 atgcctaaac cctggtggcc attgttctgt actaaggaac aacattccct ttgaaaggac
     3301 attatttgcc tgttgtattt aacttcacag tgccttgcaa agagttgttt aacttgcatg
     3361 gtgccaccca ataaatatct gtgcaattga a
//
