LOCUS       NM_020940               5774 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FHF complex subunit HOOK interacting protein 2A
            (FHIP2A), transcript variant 1, mRNA.
ACCESSION   NM_020940 XM_049351
VERSION     NM_020940.4
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 5774)
  AUTHORS   Christensen,J.R., Kendrick,A.A., Truong,J.B., Aguilar-Maldonado,A.,
            Adani,V., Dzieciatkowska,M. and Reck-Peterson,S.L.
  TITLE     Cytoplasmic dynein-1 cargo diversity is mediated by the
            combinatorial assembly of FTS-Hook-FHIP complexes
  JOURNAL   Elife 10, e74538 (2021)
   PUBMED   34882091
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5774)
  AUTHORS   Mavioglu,R.N., Kara,B., Akansel,G., Nalbant,G. and Tolun,A.
  TITLE     FAM160B1 deficit associated with microcephaly, severe intellectual
            disability, ataxia, behavioral abnormalities and speech problems
  JOURNAL   Clin Genet 96 (5), 456-460 (2019)
   PUBMED   31353455
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC037207.1, AB046820.2, CR933692.1 and AI521900.1.
            
            On Nov 22, 2018 this sequence version replaced NM_020940.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.197839.1,
                                           SRR1660807.174461.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369248.9/ ENSP00000358251.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-369               BC037207.1         37-405
            370-3190            AB046820.2         1-2821
            3191-5565           CR933692.1         2947-5321
            5566-5774           AI521900.1         19-227              c
FEATURES             Location/Qualifiers
     source          1..5774
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     gene            1..5774
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /note="FHF complex subunit HOOK interacting protein 2A"
                     /db_xref="GeneID:57700"
                     /db_xref="HGNC:HGNC:29320"
                     /db_xref="MIM:617312"
     exon            1..344
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     CDS             300..2597
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /note="isoform a is encoded by transcript variant 1;
                     protein FAM160B1; family with sequence similarity 160
                     member B1"
                     /codon_start=1
                     /product="FHF complex subunit HOOK interacting protein 2A
                     isoform a"
                     /protein_id="NP_065991.3"
                     /db_xref="CCDS:CCDS31290.1"
                     /db_xref="GeneID:57700"
                     /db_xref="HGNC:HGNC:29320"
                     /db_xref="MIM:617312"
                     /translation="MFSKFTSILQHAVEALAPSLPLQEDFVYHWKAITHYYIETSDDK
                     APVTDTNIPSHLEQMLDILVQEENERESGETGPCMEYLLHHKILETLYTLGKADCPPG
                     MKQQVLVFYTKLLGRIRQPLLPHINVHRPVQKLIRLCGEVLATPTENEEIQFLCIVCA
                     KLKQDPYLVNFFLENKMKSLASKGVPNVISEDTLKGQDSLSTDTGQSRQPEELSGATG
                     MEQTELEDEPPHQMDHLSTSLDNLSVTSLPEASVVCPNQDYNLVNSLLNLTRSPDGRI
                     AVKACEGLMLLVSLPEPAAAKCLTQSTCLCELLTDRLASLYKALPQSVDPLDIETVEA
                     INWGLDSYSHKEDASAFPGKRALISFLSWFDYCDQLIKEAQKTAAVALAKAVHERFFI
                     GVMEPQLMQTSEMGILTSTALLHRIVRQVTSDVLLQEMVFFILGEQREPETLAEISRH
                     PLRHRLIEHCDHISDEISIMTLRMFEHLLQKPNEHILYNLVLRNLEERNYTEYKPLCP
                     EDKDVVENGLIAGAVDLEEDPLFTDISPENTLPNQEWLSSSPPATPDHPKNDGKTEVH
                     KIVNSFLCLVPDDAKSSYHVEGTGYDTYLRDAHRQFRDYCAICLRWEWPGSPKALEKC
                     NLEAAFFEGHFLKVLFDRMGRILDQPYDVNLQVTSVLSRLSLFPHPHIHEYLLDPYVN
                     LAPGCRSLFSVIVRVVGDLMLRIQRIQDFTPKLLLVRKRLLGLEPEGPIIDHITLLEG
                     VIVLEEFCKELAAIAFVKYHASSTP"
     exon            345..423
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            424..593
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            594..698
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            699..821
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            822..1115
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1312
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1427
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1504
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1697
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1698..1867
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..2011
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            2012..2102
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            2103..2246
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2387
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            2388..2491
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     exon            2492..5774
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5754..5759
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /note="hexamer: AATAAT"
     polyA_site      5774
                     /gene="FHIP2A"
                     /gene_synonym="bA106M7.3; FAM160B1; KIAA1600"
                     /note="major polyA site"
ORIGIN      
        1 gagccgggct gccaccgtgt cccaaccggt gccgccgccg gagcttctcc gggccccgag
       61 tcctcgccga acgccctcct cgccgcccgc cgcgtcccgg cgccctccgg agccgccgag
      121 ccgcccgcgc acacctgaag cggccgggcc aggccctgcc tcgatcctca gctcgtcctc
      181 cccgccccgc accggccttc actctggagc ggccccggca gccgcagcag gggcggcggc
      241 ggcggatcga ggagctctcc aggtcgtccc gggagaggct gctgcagtcc cgggacagga
      301 tgttctccaa gttcacctcc atcctgcagc acgccgtgga ggcgcttgca ccttctcttc
      361 ctttacaaga agattttgtt tatcactgga aggcaattac ccattactac atagagactt
      421 cagatgataa agccccagtg accgatacaa atattccatc gcatctggaa cagatgttag
      481 atatactggt tcaagaagaa aatgaacggg aatctggaga gacagggcca tgtatggaat
      541 atttgcttca tcacaagatc ttggaaacat tatatacctt ggggaaagct gattgtcctc
      601 cgggaatgaa acagcaggtt ttggttttct atacgaaact tctgggaaga atccggcagc
      661 cactacttcc acacattaac gtgcacaggc cagtgcagaa attaattaga ctctgtggtg
      721 aagtcctagc aacaccaaca gaaaatgaag agattcagtt tctttgcatt gtgtgtgcga
      781 agctgaaaca ggacccctac ctggttaact ttttcctaga gaataagatg aaatcattgg
      841 cttccaaagg agtaccaaat gtaatttcag aagatacatt aaaaggtcag gattccttgt
      901 caacagatac aggacagtcc cgtcaaccag aggaactatc tggtgctact ggaatggagc
      961 aaacagaatt ggaagatgag cctcctcatc agatggatca cctgtccaca agcttggata
     1021 acctcagtgt cacctcactg ccagaggcct cggttgtttg tccaaatcag gattacaatt
     1081 tagtgaattc tttgttaaat cttactagaa gtcctgatgg cagaatagct gtgaaggcat
     1141 gtgaaggctt gatgctgtta gtaagtttgc cagagcctgc ggctgcaaag tgccttacac
     1201 agagcacttg cttgtgtgaa ctactgacag acagacttgc ctccctgtac aaggccctac
     1261 ctcagtcagt ggatccgtta gatattgaaa ccgtggaagc aattaactgg ggcttggact
     1321 catatagtca taaagaagat gcttcagcat ttccaggaaa acgagcctta atttcatttc
     1381 tttcctggtt tgattattgt gatcagctca ttaaggaagc ccaaaagact gctgctgttg
     1441 ctcttgccaa agctgttcat gaaagatttt tcattggtgt tatggaacct caattaatgc
     1501 aaacttctga gatgggtatt ctcacatcca ctgctctgct tcatcgcatc gttcggcaag
     1561 tgacctctga tgttttgctt caagaaatgg tgttttttat ccttggagaa cagagggaac
     1621 cagaaactct ggcagaaatc agcagacatc ctttaaggca taggttaatt gaacattgtg
     1681 atcacatatc tgatgagata agcataatga cattacgaat gtttgaacat cttttacaaa
     1741 aacccaatga gcacattctt tacaacttgg tcttgagaaa tcttgaagaa agaaattata
     1801 cagaatataa acctttgtgc ccagaagata aagatgtggt agaaaatgga ttgatagcag
     1861 gagcagtaga tctggaagaa gatccattat ttactgacat ttcaccagaa aacactttgc
     1921 caaaccaaga gtggcttagt tcttcacctc ctgctactcc agaccacccc aaaaatgatg
     1981 gaaaaactga agttcataaa attgtaaata gttttctctg tctggtaccg gatgacgcaa
     2041 aatcctccta ccatgttgag ggcacaggat atgacactta cctccgagac gctcataggc
     2101 agttccgaga ctactgtgct atctgcttaa gatgggagtg gcctgggtct ccaaaagcat
     2161 tggaaaagtg caatttagaa gctgctttct ttgaaggtca ttttttgaaa gtgctgttcg
     2221 acagaatggg aagaattctt gatcagccat atgatgtaaa cttacaagta acctcagtgt
     2281 tatctagact ttctctcttc cctcatccac acatccacga gtaccttttg gatccttacg
     2341 tgaacctcgc tcctggctgt agatctctct tctctgtaat tgtcagggtt gttggagacc
     2401 ttatgcttcg aatccagcgt attcaagact ttactcccaa gcttctgtta gtcagaaagc
     2461 ggttacttgg tttggaacct gaaggcccta ttattgacca catcacactg ctagagggtg
     2521 tgattgtgtt agaagagttc tgtaaggagc tggcggcaat cgcatttgta aaatatcatg
     2581 cttcctccac accataaata acatctttca tgtaactggg ggaacagaac tactgtgtac
     2641 atttcaccaa aaaagactca gttccaccca gccacaagag gataaaaagc ctttttaaac
     2701 gcagtattgc tgtaaactgg acagaaccat taagaaccta ttgagtggac attcttggtg
     2761 aaatgttgta taatgttgtt ttcattggct ttatcataat ggttctatat atacaattgc
     2821 acattgttga atccaggata caatcaaagg aacttcagga aataagcatt tctaatgact
     2881 gtgaaaagct gcaatatttc caatgtcatg actttgatga tatttctgtt atattaatgt
     2941 ccttttaggt agcaaggcat tttgacattc tctgggactc aaatgcttgt attcttttgg
     3001 attaataagt agcaaaaaaa aatcactaat tttataactt tttaaggtca gaattcttat
     3061 caaacaaaat atgaaaactg taaatgagaa aaaaatacaa ttcagaaacc attgaatgaa
     3121 ttaattatag gcgataaaaa tgtgtagagc accattaact ttcttcagct tttttaagaa
     3181 taacaattta atatgataaa ttcttgatta atataatata tctatatttt taaagaaatg
     3241 ttcttttact cttttgtgca catagccatg ttagtgattt tcttcatgtg tgggtcccag
     3301 tttatttaaa ctgtgtcgtt ttcgcagcag tgttcaattt gctcaccatt ggtagtgttt
     3361 gctaaaattg tattttttta agctaagtaa catgtactgg gttgagaacc tttttccccc
     3421 ctctccctct cagaaaattg ctttataaaa ttgctttata atttgatttt cttactgaaa
     3481 cgcatggtgg tgtctaggtg gggaactgac tgataaccct tggcagcaat caaagtgcca
     3541 gtggctcctc gatgtttaca tttttttcta ttttgttcag tcttttgttt taaatgattc
     3601 taaagagatt aaagaaaaca gagttttaaa tgtcctattt acatgttaaa ggatttgggg
     3661 aaattgggta tgtatgtgaa tgggtgtaca tgtaggaacc tgtagttcag caaagctgcg
     3721 ctgggcacag catgcttgta cttgattgac aaaatcgtgt ttgccagtcc actttctatt
     3781 tttcctttaa gtgatgctga tcactcaaat aatgctttta agctattgtt tgtttttatt
     3841 tgacatgtta agccgcagca ctttcttctt catctttcca tttactgata tttgggggaa
     3901 caggctatca aaggttccgg cttgaaggga actgtcacta ccccctctag gaagttattt
     3961 tatgtagcat gtttgcatat acgcattgtg tggcatgtgc atagaggctt gttttacacc
     4021 tatctgctca ttttgttgtg ttagcttttc tggtttattt catagtttgt tcttgctatt
     4081 tattaagaac agaatatcaa aagattatga atagcctcag ctctagaatg cttaccactg
     4141 ttaaaacaac aaaaagacta aacctctaat ttcatgcaaa tctttgttag cttattctaa
     4201 gaaatttatt aagtaaaaca aagaaaaaac agaagtggga gatagttatt ttgtgcgtaa
     4261 ttttctttaa atcattttga atgatgtgaa ggcattcagt ttgctgtatt tttttaatca
     4321 cttcatacaa ggaaaacttc gacatttaca tttctagatg tagtaacagt ctactttgat
     4381 atatgagtat ttaaactaag gcattaagag atattagata tttcttaatg ttttcatagt
     4441 gctcaatagg tgtagtagca atgatattac ctctgaaacc aaatactctt ttatccttga
     4501 ttccactatg ggaccttata actagtccat gaaaccaagc tcagaaaagc tttaactctt
     4561 atatttgtgt atatgtatgc tgcttctgaa aatataattt ttctaagttg ttgtaatgac
     4621 tttaatttgt aatcagctaa ggcttaagat ttcatttgtt tctaagtttc tgtttttcat
     4681 cccttctttt ttcttttata tttagttcag acctagagcc agtagaagct ctcacagtga
     4741 gttcaatttg ttagtgaaac attgtactgc atcaccagtt tttcttacct tctgttgaca
     4801 gctgaatatt tctgttactc agtacttgca aaaacagtaa ctaaaatgca ctatgctgag
     4861 tggaaagcac cgtcataaca attgattgcc atagcaagtt ccaaagtgaa tttcagcctt
     4921 gcttcacatt tgtatcaata aatatgcaca ttttttaaaa ctttctaaca atatagtctt
     4981 tggatttgtt tttagttatg agccgcattc tttacttgat agaactcaga tttgtcttag
     5041 cctattgcca tatagtactc accttataac tatgtaactt tctcgtaatg tatctgtttg
     5101 tgcaatatgg aagctgtgag tggattcata gctttttggt ttaattgtac attattgtgt
     5161 gtgtatatat gtatatatgt atatatataa ggaccaaaat tcttagctcg cttacactgt
     5221 tgctagtgta aacattgtta cacttaattt tacagggcac aaattatgga attacttcat
     5281 aaattcatgg taatgttttc ataaattatt gcattaacat acaattgcca tttaattatg
     5341 aagtccatca gtattgacag aagacgttac agtgaagtgc taaaaccaca ctatatggta
     5401 attatatttt gggttatgta gtaaatcaaa tatgcatgtc attgtgacac tttatgtgtt
     5461 aaaacatggt agataatcac attttctggg ccctgtaaaa tagtgttact gtaatactct
     5521 gttttgcctc ctgccttgtt tacattaaac aggatatttg gtaaattttt ttgtattgaa
     5581 agttgtgtag gttactgaca gtgttaccag cgtctggaat tcttggtccc tccgtggaga
     5641 aactcttcag atggtcattg tgtacctact ctctcttcaa aggaagttgt gatcaagttc
     5701 aactttttgt gctaacaatg catgcaggac taagagggat gatctaaaaa ataaataatg
     5761 taatttaaac aaaa
//
