LOCUS       NM_032139               4432 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens ankyrin repeat domain 27 (ANKRD27), mRNA.
ACCESSION   NM_032139
VERSION     NM_032139.3
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 4432)
  AUTHORS   Crawley-Snowdon,H., Yang,J.C., Zaccai,N.R., Davis,L.J.,
            Wartosch,L., Herman,E.K., Bright,N.A., Swarbrick,J.S.,
            Collins,B.M., Jackson,L.P., Seaman,M.N.J., Luzio,J.P., Dacks,J.B.,
            Neuhaus,D. and Owen,D.J.
  TITLE     Mechanism and evolution of the Zn-fingernail required for
            interaction of VARP with VPS29
  JOURNAL   Nat Commun 11 (1), 5031 (2020)
   PUBMED   33024112
  REMARK    GeneRIF: Mechanism and evolution of the Zn-fingernail required for
            interaction of VARP with VPS29.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4432)
  AUTHORS   Fukuda,M.
  TITLE     Multiple Roles of VARP in Endosomal Trafficking: Rabs, Retromer
            Components and R-SNARE VAMP7 Meet on VARP
  JOURNAL   Traffic 17 (7), 709-719 (2016)
   PUBMED   27103185
  REMARK    GeneRIF: VARP regulates endosomal trafficking and and
            retromer-mediated endosome-to-plasma membrane sorting of
            transmembrane proteins by binding to rab GTP-Binding Proteins and
            R-SNARE VAMP7 [review].
            Review article
REFERENCE   3  (bases 1 to 4432)
  AUTHORS   Sleiman,P.M., Wang,M.L., Cianferoni,A., Aceves,S., Gonsalves,N.,
            Nadeau,K., Bredenoord,A.J., Furuta,G.T., Spergel,J.M. and
            Hakonarson,H.
  TITLE     GWAS identifies four novel eosinophilic esophagitis loci
  JOURNAL   Nat Commun 5, 5593 (2014)
   PUBMED   25407941
  REMARK    GeneRIF: Eosinophilic esophagitis was associate with increased
            expression of ANKRD27.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4432)
  AUTHORS   Hesketh,G.G., Perez-Dorado,I., Jackson,L.P., Wartosch,L.,
            Schafer,I.B., Gray,S.R., McCoy,A.J., Zeldin,O.B., Garman,E.F.,
            Harbour,M.E., Evans,P.R., Seaman,M.N.J., Luzio,J.P. and Owen,D.J.
  TITLE     VARP is recruited on to endosomes by direct interaction with
            retromer, where together they function in export to the cell
            surface
  JOURNAL   Dev Cell 29 (5), 591-606 (2014)
   PUBMED   24856514
REFERENCE   5  (bases 1 to 4432)
  CONSRTM   GENDEP Investigators; MARS Investigators; STAR*D Investigators
  TITLE     Common genetic variation and antidepressant efficacy in major
            depressive disorder: a meta-analysis of three genome-wide
            pharmacogenetic studies
  JOURNAL   Am J Psychiatry 170 (2), 207-217 (2013)
   PUBMED   23377640
REFERENCE   6  (bases 1 to 4432)
  AUTHORS   Wang,F., Zhang,H., Zhang,X., Wang,Y., Ren,F., Zhang,X., Zhai,Y. and
            Chang,Z.
  TITLE     Varp interacts with Rab38 and functions as its potential effector
  JOURNAL   Biochem Biophys Res Commun 372 (1), 162-167 (2008)
   PUBMED   18477474
  REMARK    GeneRIF: Varp physically interacts with Rab38, and preferentially
            binds to the active GTP-bound form of Rab38 both in vitro and in
            vivo.
REFERENCE   7  (bases 1 to 4432)
  AUTHORS   Zhang,X., He,X., Fu,X.Y. and Chang,Z.
  TITLE     Varp is a Rab21 guanine nucleotide exchange factor and regulates
            endosome dynamics
  JOURNAL   J Cell Sci 119 (Pt 6), 1053-1062 (2006)
   PUBMED   16525121
REFERENCE   8  (bases 1 to 4432)
  AUTHORS   Wan,D., Gong,Y., Qin,W., Zhang,P., Li,J., Wei,L., Zhou,X., Li,H.,
            Qiu,X., Zhong,F., He,L., Yu,J., Yao,G., Jiang,H., Qian,L., Yu,Y.,
            Shu,H., Chen,X., Xu,H., Guo,M., Pan,Z., Chen,Y., Ge,C., Yang,S. and
            Gu,J.
  TITLE     Large-scale cDNA transfection screening for genes related to cancer
            development and progression
  JOURNAL   Proc Natl Acad Sci U S A 101 (44), 15724-15729 (2004)
   PUBMED   15498874
  REMARK    Erratum:[Proc Natl Acad Sci U S A. 2004 Dec 14:101(50):17565]
REFERENCE   9  (bases 1 to 4432)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   10 (bases 1 to 4432)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK054561.1 and AA903176.1.
            
            On Nov 23, 2018 this sequence version replaced NM_032139.2.
            
            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 :: SRR1660805.127942.1, BC045605.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306065.9/ ENSP00000304292.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4430              AK054561.1         6-4435
            4431-4432           AA903176.1         14-15               c
FEATURES             Location/Qualifiers
     source          1..4432
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.11"
     gene            1..4432
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /note="ankyrin repeat domain 27"
                     /db_xref="GeneID:84079"
                     /db_xref="HGNC:HGNC:25310"
                     /db_xref="MIM:618957"
     exon            1..110
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            111..242
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..3293
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /note="VPS9-ankyrin-repeat protein; Vps9 domain and
                     ankyrin-repeat-containing protein; VPS9 domain-containing
                     protein; ankyrin repeat domain 27 (VPS9 domain)"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 27"
                     /protein_id="NP_115515.2"
                     /db_xref="CCDS:CCDS32986.1"
                     /db_xref="GeneID:84079"
                     /db_xref="HGNC:HGNC:25310"
                     /db_xref="MIM:618957"
                     /translation="MALYDEDLLKNPFYLALQKCRPDLCSKVAQIHGIVLVPCKGSLS
                     SSIQSTCQFESYILIPVEEHFQTLNGKDVFIQGNRIKLGAGFACLLSVPILFEETFYN
                     EKEESFSILCIAHPLEKRESSEEPLAPSDPFSLKTIEDVREFLGRHSERFDRNIASFH
                     RTFRECERKSLRHHIDSANALYTKCLQQLLRDSHLKMLAKQEAQMNLMKQAVEIYVHH
                     EIYNLIFKYVGTMEASEDAAFNKITRSLQDLQQKDIGVKPEFSFNIPRAKRELAQLNK
                     CTSPQQKLVCLRKVVQLITQSPSQRVNLETMCADDLLSVLLYLLVKTEIPNWMANLSY
                     IKNFRFSSLAKDELGYCLTSFEAAIEYIRQGSLSAKPPESEGFGDRLFLKQRMSLLSQ
                     MTSSPTDCLFKHIASGNQKEVERLLSQEDHDKDTVQKMCHPLCFCDDCEKLVSGRLND
                     PSVVTPFSRDDRGHTPLHVAAVCGQASLIDLLVSKGAMVNATDYHGATPLHLACQKGY
                     QSVTLLLLHYKASAEVQDNNGNTPLHLACTYGHEDCVKALVYYDVESCRLDIGNEKGD
                     TPLHIAARWGYQGVIETLLQNGASTEIQNRLKETPLKCALNSKILSVMEAYHLSFERR
                     QKSSEAPVQSPQRSVDSISQESSTSSFSSMSASSRQEETKKDYREVEKLLRAVADGDL
                     EMVRYLLEWTEEDLEDAEDTVSAADPEFCHPLCQCPKCAPAQKRLAKVPASGLGVNVT
                     SQDGSSPLHVAALHGRADLIPLLLKHGANAGARNADQAVPLHLACQQGHFQVVKCLLD
                     SNAKPNKKDLSGNTPLIYACSGGHHELVALLLQHGASINASNNKGNTALHEAVIEKHV
                     FVVELLLLHGASVQVLNKRQRTAVDCAEQNSKIMELLQVVPSCVASLDDVAETDRKEY
                     VTVKIRKKWNSKLYDLPDEPFTRQFYFVHSAGQFKGKTSREIMARDRSVPNLTEGSLH
                     EPGRQSVTLRQNNLPAQSGSHAAEKGNSDWPERPGLTQTGPGHRRMLRRHTVEDAVVS
                     QGPEAAGPLSTPQEVSASRS"
     exon            243..353
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            354..510
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            511..665
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            666..725
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            726..779
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            780..845
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            846..922
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1044
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1045..1123
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1124..1256
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1349
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1477
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1560
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1561..1676
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..1769
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1967
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2027
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2028..2147
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2148..2192
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2193..2315
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2316..2513
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2514..2633
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2634..2795
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2796..2907
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2908..2986
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            2987..3059
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     exon            3060..4432
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4412..4417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /note="hexamer: AGTAAA"
     polyA_site      4432
                     /gene="ANKRD27"
                     /gene_synonym="PP12899; VARP"
                     /note="major polyA site"
ORIGIN      
        1 agggccagat cgccgcgcga gggtggtggg catcgaggtc ccagcagcgg acgagggagg
       61 tgccgccgtc gcccaggatg ggctgggaat gaagcgatgt agccttttaa gagatttgct
      121 ctgacccatc tgaagtccat atggctctgt atgatgaaga cctcctgaaa aatcctttct
      181 atctggctct gcaaaagtgc cgccctgact tgtgcagcaa agtggcccaa atccatggca
      241 ttgtcttagt accctgcaaa ggaagcctgt cgagcagcat ccagtctact tgtcagtttg
      301 agtcctacat tttgatacct gtggaagagc attttcagac cttaaatgga aaggatgtct
      361 ttattcaagg gaacaggatt aaattaggag ctggttttgc ctgtcttctc tcagtgccca
      421 ttctctttga agaaactttc tacaatgaaa aagaagagag tttcagcatc ctgtgtatag
      481 cccatccttt ggaaaagaga gagagttcag aagagccttt ggcaccctca gatccctttt
      541 ccctgaaaac cattgaagat gtgagagagt tcttgggaag acactccgag cgatttgaca
      601 ggaacatcgc ctctttccat cgaacattcc gagaatgcga gagaaagagc ctccgtcacc
      661 acatagactc agcgaatgct ctctacacca aatgcctcca gcagcttctg agggactctc
      721 acctgaaaat gctcgccaag caggaggccc agatgaacct gatgaagcag gcagtggaga
      781 tatacgtcca tcatgaaatt tacaacctga tctttaaata cgtggggacc atggaggcaa
      841 gtgaggatgc ggcctttaac aaaatcacaa gaagccttca agatcttcag cagaaagata
      901 ttggtgtgaa accggagttc agctttaaca tacctcgtgc caaaagagag ctggctcagc
      961 tgaacaaatg cacctcccca cagcagaagc ttgtctgctt gcgaaaagtg gtgcagctca
     1021 ttacacagtc tccaagccag agagtgaacc tggagaccat gtgtgctgat gatctgctat
     1081 cagtcctgtt atacttgctt gtgaaaacgg agatccctaa ttggatggca aatttgagtt
     1141 acatcaaaaa cttcaggttt agcagcttgg caaaggatga actgggatac tgcctgacct
     1201 cattcgaagc tgccattgaa tatattcggc aaggaagcct ctctgctaaa ccccctgagt
     1261 ctgagggatt tggagacagg ctgttcctta agcagagaat gagcttactc tctcagatga
     1321 cttcgtctcc caccgactgc ctgtttaagc acattgcatc aggtaaccag aaagaagtgg
     1381 agagacttct gagccaagag gaccatgata aagataccgt ccaaaagatg tgtcaccctc
     1441 tctgcttctg cgatgactgt gagaaactcg tctctgggag gttgaatgat ccctcagttg
     1501 tcactccatt ctccagagac gacagggggc acacccctct ccatgtggct gctgtctgtg
     1561 ggcaggcatc cctcatcgac ctcctggttt ccaagggcgc catggtaaat gccacagact
     1621 accatggagc cactccgctc cacctggcct gtcagaaggg ctaccagagc gtgacgctgc
     1681 tgctgctgca ctacaaggcc agcgcggaag tgcaggacaa caatgggaat acgccactcc
     1741 acctggcctg cacctacggc cacgaggact gtgtgaaggc tctggtttac tacgacgtgg
     1801 agtcgtgcag acttgacatt ggcaatgaga aaggagacac ccctctacac attgctgccc
     1861 gctggggcta ccaaggcgtc atagagacat tgctgcagaa cggagcgtcc accgagatcc
     1921 agaacagact gaaggagacg cccctcaagt gtgcattaaa ctcaaagatt ctgtctgtaa
     1981 tggaagccta tcacctgtcc ttcgagagga ggcagaagtc gtccgaggcc cctgtgcagt
     2041 ccccgcagcg ctccgtggac tccatcagcc aagagtcctc cacttccagc ttctcctcca
     2101 tgtcagccag ctcaaggcag gaggagacca agaaggacta cagagaggta gaaaaacttt
     2161 tgagagcagt tgctgatgga gatctagaaa tggtgcgtta cctgttggaa tggacagagg
     2221 aggacctgga ggatgcggag gacactgtca gtgcagcgga ccccgaattc tgtcacccgt
     2281 tgtgccagtg ccccaagtgt gccccagctc agaagaggct ggcgaaggtt cctgccagtg
     2341 ggcttggtgt gaacgtgacc agccaggacg gctcctcccc gctgcatgtc gccgccctgc
     2401 acggccgggc ggacctcatc cccctcctgc tgaagcacgg ggccaacgca ggtgccagga
     2461 acgcagacca agccgtcccg ctccacctgg cctgccagca gggccacttt caggtggtga
     2521 agtgtctgtt agattcgaat gcaaaaccca ataagaagga cctcagtgga aacacgcccc
     2581 tcatttacgc ctgctccggt ggccatcacg agcttgtggc actgctgcta cagcacgggg
     2641 cctccattaa cgcttctaac aataagggca acacagcgct gcacgaggct gtgattgaaa
     2701 agcacgtctt cgtggtagag ctgcttctgc tccacggagc gtcagttcag gtgctgaaca
     2761 agcggcagcg cacggctgta gactgtgctg aacagaattc aaaaataatg gaattgcttc
     2821 aggtggtacc aagctgtgtt gcttcattag atgatgtggc tgaaactgac cgcaaggagt
     2881 atgtcactgt taagatcagg aaaaaatgga actcaaaact gtatgatcta ccagatgagc
     2941 cttttacaag acagttttac tttgtccact cagctggtca gtttaaggga aagacttcaa
     3001 gggagattat ggcaagagat agaagtgtcc ctaatttaac cgaaggttct ttgcatgagc
     3061 cagggaggca aagtgtcaca ctgagacaga ataacctgcc agctcagagt ggatctcatg
     3121 ctgctgagaa aggcaacagc gactggccag agaggcctgg actgacacag actggccctg
     3181 gacacagacg gatgctgcgg agacacacgg tagaggatgc ggtcgtgtcc cagggcccgg
     3241 aggctgctgg ccccctctcc actccccaag aggttagtgc ttcccggtcc taacaggaat
     3301 gaggagttgt tgaacccact gctaggaagc aaggatgcaa caagatgatg ctgagcgtga
     3361 acacatctga gaactaaatg tgcttccatg agactggctt gagaagtctt cagcaccaag
     3421 ttcctgaaag cttttctgtg gcaggaaaga atgcaacaaa aaagttaacc accaccatct
     3481 ctctcctctt caaagctaat gaatacaatt gaaacagaca aaaattccag tagcatccag
     3541 atccttaagc cagaggtgca tgcttctttt taagtatgag ggtttgttgg tcacagtggg
     3601 agaggtttca ccaccgcatt ctgacctcct cctcccaaaa ggtgctaaac ctctctgacc
     3661 tgtgtacatt cacaaaccac agctagaatt cctccaccta ggattaagct ggagagaagt
     3721 aagtaattta ggtttcatgg tactgtagag gccaggctga aatgtcatat ctgaaggaag
     3781 aaagcagcag ctggacaatg tttctttgca aagcaacact cgaaccaaaa gatgcctcaa
     3841 tcccattttg atattcattt tagtgaaagg atgcatcaga cctgttccac atcatgcaca
     3901 tgggaaaggg tggttatcat tttccttcta acaagtaggt acagatattc ggttactaca
     3961 cgtgcacctg tagcagtatt tctagaaaca tccctttttg ttgagaacct cccttgaatg
     4021 tctgtcacac tcacacctga cgggatggtt actggattag agagtagatt tggcacatct
     4081 tttcttagtc ttttgattca aattcaaaac ttaacagcac aaaccaggtc agagttactt
     4141 tcggttagaa tttattgcca tttattcctt tttataaatt tctatagatt atactgttat
     4201 ttttatgtta ttggcctaga gctacacgta tatgggtttg tcctgagtcc gttttcaaat
     4261 gaccttgtga tagggaaatg gttttgtcca tgttcttgga aatacttgtg tatgtacaga
     4321 aggaagggag ggattatttt tctacaaagt aatttatgat ttctaatttt ctaatgtgcc
     4381 ttggatatgt gccaaatgat ggaaaagaaa cagtaaactt tatgattctt ga
//
