LOCUS       NM_022096               5429 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens ankyrin repeat and EF-hand domain containing 1
            (ANKEF1), transcript variant 1, mRNA.
ACCESSION   NM_022096
VERSION     NM_022096.6
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 5429)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 5429)
  AUTHORS   Raby,B.A., Soto-Quiros,M.E., Avila,L., Lake,S.L., Murphy,A.,
            Liang,C., Fournier,E., Spesny,M., Sylvia,J.S., Verner,A.,
            Hudson,T.J., Klanderman,B.J., Freimer,N.B., Silverman,E.K. and
            Celedon,J.C.
  TITLE     Sex-specific linkage to total serum immunoglobulin E in families of
            children with asthma in Costa Rica
  JOURNAL   Hum Mol Genet 16 (3), 243-253 (2007)
   PUBMED   17142250
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL109754.13, BP279314.1, BI562273.1, AK097689.1, AK025322.1 and
            BU621946.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022096.5.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.84743.1, BC022878.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378392.6/ ENSP00000367644.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AL109754.13        57380-57391
            13-62               BP279314.1         1-50
            63-411              BI562273.1         14-362
            412-2947            AK097689.1         269-2804
            2948-3514           AK025322.1         1509-2075
            3515-3664           AL109754.13        78782-78931
            3665-3888           BU621946.1         18-241              c
            3889-5429           AL109754.13        79156-80696
FEATURES             Location/Qualifiers
     source          1..5429
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.2"
     gene            1..5429
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="ankyrin repeat and EF-hand domain containing 1"
                     /db_xref="GeneID:63926"
                     /db_xref="HGNC:HGNC:15803"
     exon            1..347
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            348..411
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            412..801
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     CDS             456..2786
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ankyrin repeat domain-containing protein 5; ankyrin repeat
                     and EF-hand domain-containing protein 1"
                     /codon_start=1
                     /product="ankyrin repeat and EF-hand domain-containing
                     protein 1 isoform 1"
                     /protein_id="NP_071379.3"
                     /db_xref="CCDS:CCDS13108.1"
                     /db_xref="GeneID:63926"
                     /db_xref="HGNC:HGNC:15803"
                     /translation="MALADKRLENLQIYKVLQCVRNKDKKQIEKLTKLGYPELINYTE
                     PINGLSALHLASVSNDIDMVSFLLDLGAHPDVQDRMGCTPTMRAAELGHELSMEILAK
                     AKADMTIVDNEGKGVLFYCILPTKRHYRCALIALEHGADVNNSTYEGKPIFLRACEDA
                     HDVKDVCLTFLEKGANPNAINSSTGRTALMEASREGVVEIVRGILERGGEVNAFDNDR
                     HHAAHFAAKGGFFDILKLLFAYNGDVGLISINGNTPLHYAAMGGFADCCKYIAQRGCD
                     LKWKNLDHKTPRAVAKEGGFKAASKEIRRAERIANKLARPGAKNPNPLWALRLHDWSV
                     EREAFLREAFAVLDRGDGSISKNDFVMVLEERQDYASSEQLAAIAHLHEKTRGGGVNI
                     NEFFKGTRYLNKSFVLGSYGPKKKEKGMGKKGKKGKFVLPLPICVIPEYAFPRRQDGG
                     PPYYMIETYKNVTDSSRFNRDHPPEHPIQDDSVWYIDDSEKVFSNINIITKAGDLASL
                     KKAFESGIPVDMKDNYYKTPLMTACASGNIDVVKFLLEKGANVNATDNFLWTPLHFAC
                     HAGQQDIVELLVESGALIDAASINNSTPLNRAIESCRLDTVKYLLDIGAKFQLENRKG
                     HSAMDVAKAYADYRIIDLIKEKLDNLPKPAENQKLKGKTPPILKTEGPEIKKEEELLS
                     SIYGVPTTSEGKKVQKGNVVHLNSLITSGYTKKVDITFIPRRIWSPEATTAELIRKRE
                     LRRERFTHEVDFDDFMMPFQKNITEKARALEAALKT"
     exon            802..1001
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1002..1151
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1275
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..2098
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2099..2325
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2326..2489
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2490..2627
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     exon            2628..5429
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3862..3867
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="hexamer: AATAAA"
     polyA_site      3890
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="major polyA site"
     regulatory      4955..4960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="hexamer: AATACA"
     polyA_site      4973
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
     regulatory      5405..5410
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="hexamer: AATACA"
     polyA_site      5429
                     /gene="ANKEF1"
                     /gene_synonym="ANKRD5"
                     /note="major polyA site"
ORIGIN      
        1 gccccggcag ccgcgccctg cgtggcggaa gctcacaatc agcccggtcc ctccggcttc
       61 caccccgccc cctgcgctca cctgcccgcg cgctcgcctt ccggggaccc ggggcccatg
      121 gacacataca cccagccctg ctgtcccgcg cgccagctca ccagccctac ccaagggaca
      181 tcattcacgc ctgggcgcct ccgccgggct ccgggagccc aaggtcgcgg ctgggccagc
      241 gctgagcgtc agaggacgag agcaggggcc tccccggtcg ccccagcagg cccaggcaca
      301 taggtgccca gagatccctg gcttctgatc gcccggaaga ctaagagtcc catgaagtgg
      361 gcaccattgc tattgccagt tcacagatgc agaaactgag gtaaaaacta gctttagttt
      421 tggtccagaa agcattttca aggagctggt caagcatggc tttagcagat aagagacttg
      481 agaacttaca gatctacaaa gttcttcaat gtgtgcggaa caaagacaag aagcagatag
      541 agaagctgac caagcttgga taccctgaac taatcaatta tacagaaccc attaatggac
      601 ttagtgcttt gcacttagcc tcagtttcca atgatattga tatggtcagc tttctccttg
      661 accttggtgc tcaccctgat gtgcaagacc gaatgggctg tactcccaca atgagggctg
      721 cagaactggg ccatgaattg tcaatggaaa tattagcaaa ggcaaaggct gatatgacta
      781 tagttgataa tgaaggaaaa ggtgttttgt tttactgcat tttaccgact aagcggcatt
      841 atcgctgtgc tctgatcgcc cttgaacatg gtgcagatgt caacaattct acctatgaag
      901 gaaagccaat attccttaga gcttgtgaag atgcacatga tgttaaagat gtgtgcctga
      961 catttttgga aaaaggagcc aatcctaatg caatcaactc atccacaggc cgcacagctt
     1021 taatggaagc gtcaagagaa ggggtagtgg aaatagttcg aggcatattg gaaagaggag
     1081 gtgaagtgaa tgcatttgac aacgacaggc atcacgctgc tcattttgct gctaaaggag
     1141 gctttttcga tatattgaag cttctttttg cctacaatgg agacgtgggg ctgatttcga
     1201 taaatgggaa cacaccactt cattatgctg ccatgggtgg ttttgcagac tgctgtaaat
     1261 atatagctca gcgaggatgt gacctgaaat ggaagaattt agatcataaa acgcccaggg
     1321 ctgtggctaa ggaaggcggc ttcaaagcag caagcaaaga aatacgccga gcagagagaa
     1381 tcgctaataa actagccagg ccaggagcca aaaatccaaa tccactgtgg gcccttagac
     1441 tgcacgattg gtccgtagaa cgtgaggctt tcctccggga agcctttgcg gttttagaca
     1501 ggggtgatgg aagcatcagc aagaacgact tcgtgatggt gttggaggaa aggcaggatt
     1561 atgcaagctc agaacagctg gctgccatcg ctcaccttca tgagaaaacc cggggaggag
     1621 gggtcaatat taatgaattc tttaaaggaa ccagatattt aaacaagtct tttgtcttag
     1681 gatcgtatgg acctaagaaa aaggaaaaag ggatgggcaa aaaaggaaag aaagggaaat
     1741 ttgtcttacc ccttccaatc tgtgtcattc ctgagtacgc gtttccacgc cggcaggatg
     1801 gtgggccacc gtattacatg attgagacct acaagaatgt cactgatagc agccggttta
     1861 atagagatca tcccccagaa catcccattc aggatgactc tgtttggtac attgatgatt
     1921 cagagaaggt attttcaaac attaatatta tcaccaaagc aggggatctg gcttctctga
     1981 aaaaggcctt tgaatcagga atacctgtgg atatgaagga taattattac aaaactccgc
     2041 taatgacggc gtgtgcaagt ggaaacatag atgtggtcaa gtttcttctt gaaaaaggag
     2101 ctaacgttaa tgcaacagat aactttctgt ggactccact tcattttgca tgccatgcag
     2161 gccaacaaga cattgttgag cttcttgttg aatctggagc tttaatagat gcagcttcaa
     2221 tcaacaactc aactccttta aatagagcca ttgaaagctg cagactggat acagtaaaat
     2281 acctacttga tattggtgct aaattccagc tggaaaatag aaaagggcat agtgccatgg
     2341 acgttgcaaa ggcatatgct gattatagaa taattgatct gattaaagaa aagctagata
     2401 acttgccgaa accagcagaa aatcaaaaac taaaaggcaa gacacctcct atactgaaga
     2461 ctgaaggccc tgaaattaag aaagaagagg aactgctgtc atcaatttat ggtgtaccaa
     2521 ccacatcaga gggaaagaaa gtacagaagg gtaatgtggt tcatctgaat tcattgatta
     2581 ccagtggtta tactaagaaa gtggatatca catttattcc acggaggatt tggagtcctg
     2641 aagccacaac agcagagctg atcaggaaga gggaactacg gcgagagagg tttacacatg
     2701 aggtggactt cgacgatttt atgatgcctt ttcagaagaa catcacagag aaagctcgag
     2761 cactggaagc tgccttgaag acctaagtca tagcagttat ttcttggggt aaatgctttg
     2821 aggcccaggg accaatcttt ggagaaagta gatatttcca tcaaagccaa agcaatccat
     2881 acaccaagaa cttgttacca agaatttctt tttgctttaa caactataaa tattcttagc
     2941 tgtctagaga aaagatgtat gttattttga aatgaatggt atgtcattct ggataaatcc
     3001 ccaagcccct ttatgaatgt agtgaaatac atggcatgtg ggttataaac gttgctgtca
     3061 aaagatttac caggtctaca ccattatgct tattattttt ttaattatcc tttttattta
     3121 ttaaatagag acagagtctc actatattgc cccagctggt ctcgaactct tgagctcagg
     3181 cagtcctccc aacttggccg tcgaaagtgc tgggattata ggcatgagct actgtgccca
     3241 gcctgcttat tgaagataca tttctagtgg aaattgatga aacaatttag gttttggaaa
     3301 aagaagtaat atttaatctt ttaaggaagg agtttatttc tcacatgcca ttataaacta
     3361 tgtgtattag ataccttggg ttgaatacac ttttaacagc cctagatcga tagccctagc
     3421 cctagataga tagccctagc cctagataga tagctattag gttggtgcaa aagtaattgt
     3481 ggtttttgcc ataaccttta attgcagcaa aaaccgcaat tacttttgct ccaacctgac
     3541 agctaggtat ctagctagct agaaaggcag atagacagat atatagatga tagatagata
     3601 gatgatagat agatagatag atgatagata gatagataga tagatagata gatagataga
     3661 tagagattta ttgcaaataa ttggtttaca taattttggg ccccagatgg ttaagtgcta
     3721 aatttgtagg gtaggctatc aggaagtgca ggctggaaac atgcaggagc tgtccctgaa
     3781 gtccacaagt ggaatttctt cttcatcatg gaaacctcag ttttgttcat acacctaaat
     3841 acttcagtat gtctttccta aaataaaagg catccattta cctaaccaga ttacgattgt
     3901 gaaaatttca actgttgtta aagcgactga tgggatcagt ttcacctaga ttatctaaag
     3961 cagtctcctt tacataaagt caatgaattg taaatattgg ttgcatgtac acaattcctt
     4021 caccacaaca cctaagatta gtatttgatt gagttactgg gtgctacaac ctagccaagt
     4081 tgagtcataa aactgaccat ctctggaggt gtactctgca gtaaaaagct agctgaggca
     4141 ttattcacac caagaaatgc agtgggtacc gaacaggagc tccaaaaata tccaacgtct
     4201 cattgacaga aagaagccac tttagaatct gccttaccag aaggcaccaa ttgcagatta
     4261 cagctctgtc agtcacgtat ggattaaacc cctttcctct aacctcctcc ctctctttcc
     4321 aaccttggag ggaccttcca caggagccag ttagggagga gaagggaaga gagagaatga
     4381 agcaggtaac caggcccacc cctctggagg agacagacct gaacaggggt tgcttacaag
     4441 cattgcattt ggatcccaag atttgctatt acaactaaat tttgtctgtt ttgtaaggtt
     4501 ttggttggtt tttttgttct ctcttttctt tttgttttga cataatttca tatttatgga
     4561 aaagttgcaa taatttgaca aagaattctt atatgccctt tacccagatt acctaaatgt
     4621 taaccactta ccacatttgc tctatctctt tctccctcta catatatgca tatgtatgtt
     4681 taatttttgt ccccgaacta tctgtgtgtc cgttgaagac atgatgaaga catgatgttc
     4741 ttcacatgat gttttcatat ttgtgtgtca gttgaagaca tgatgtttta aatatttcat
     4801 tgtgtatttc ctaaaatcac gatgttcttt tgcataacaa tattaccatt ggcaaactaa
     4861 ggaaattaac acttaagtga actatttaat ctatagacct tattcagatt ttgctattta
     4921 tcccaataat ttcctttgta ctcccaggtc atgaaataca ttcgcttgcc ccatctcttt
     4981 agtctctttt agtttagaac aacctgtatt tcttgtttgt ttgtttgttt gtttgtttat
     5041 gacagtatat aagaagaaca caagccactt ttatcttgta aaatgtctct caactttggt
     5101 ttgtcttaaa tgtcttcaag aatagattca ggtgatgctt ttggggcagc agtgctacag
     5161 atgtcattgc acccttctca gtacatcata tcaggaggca catgatgttg atacctgata
     5221 taaactttaa ctgcatttgc agttgagaga aatgtaaata aaagtaaagc tgcagtaata
     5281 aatcataact gcataaaatt aactgtagta catactgtac aactgtaata atttcatagc
     5341 cacctcctgt tgctattgtg ttgagttcaa ttgttgtctt ttctcaagct tactttattg
     5401 cacaaataca gtatttataa catacaaaa
//
