LOCUS       NM_152522               3242 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ARF like GTPase 6 interacting protein 6 (ARL6IP6),
            transcript variant 1, mRNA.
ACCESSION   NM_152522
VERSION     NM_152522.7
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 3242)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3242)
  AUTHORS   Abumansour,I.S., Hijazi,H., Alazmi,A., Alzahrani,F., Bashiri,F.A.,
            Hassan,H., Alhaddab,M. and Alkuraya,F.S.
  TITLE     ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in
            a patient with syndromic Cutis Marmorata Telangiectatica Congenita
  JOURNAL   Hum Genet 134 (8), 815-822 (2015)
   PUBMED   25957586
  REMARK    GeneRIF: ARL6IP6 as a novel candidate gene for a syndromic form of
            CMTC.
REFERENCE   3  (bases 1 to 3242)
  AUTHORS   Ingley,E., Williams,J.H., Walker,C.E., Tsai,S., Colley,S.,
            Sayer,M.S., Tilbrook,P.A., Sarna,M., Beaumont,J.G. and Klinken,S.P.
  TITLE     A novel ADP-ribosylation like factor (ARL-6), interacts with the
            protein-conducting channel SEC61beta subunit
  JOURNAL   FEBS Lett 459 (1), 69-74 (1999)
   PUBMED   10508919
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079344.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 30, 2019 this sequence version replaced NM_152522.6.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074968.2706632.1,
                                           SRR18074969.1592613.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326446.10/ ENSP00000315357.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-405               AC079344.5         41674-42078
            406-459             AC079344.5         43587-43640
            460-592             AC079344.5         58048-58180
            593-3242            AC079344.5         82801-85450
FEATURES             Location/Qualifiers
     source          1..3242
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q23.3"
     gene            1..3242
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="ARF like GTPase 6 interacting protein 6"
                     /db_xref="GeneID:151188"
                     /db_xref="HGNC:HGNC:24048"
                     /db_xref="MIM:616495"
     exon            1..405
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             6..686
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="isoform a is encoded by transcript variant 1;
                     ADP-ribosylation factor-like protein 6-interacting protein
                     6; regulated by phosphonoformate; phosphonoformate
                     immuno-associated protein 1; ARL-6-interacting protein 6;
                     ADP-ribosylation-like factor 6 interacting protein 6;
                     ADP-ribosylation factor GTPase 6 interacting protein 6;
                     ADP-ribosylation factor-like 6 interacting protein 6; ADP
                     ribosylation factor like GTPase 6 interacting protein 6"
                     /codon_start=1
                     /product="ADP-ribosylation factor-like protein
                     6-interacting protein 6 isoform a"
                     /protein_id="NP_689735.1"
                     /db_xref="CCDS:CCDS2197.1"
                     /db_xref="GeneID:151188"
                     /db_xref="HGNC:HGNC:24048"
                     /db_xref="MIM:616495"
                     /translation="MSFAESGWRSALRRRGPGTPGPVARPSYSSFTQGDSWGEGEVDE
                     EEGCDQVARDLRAEFSAGAWSEPRKRSVLPPDGNGSPVLPDKRNGIFPAAAGSRAQPR
                     RWPVQVLSILCSLLFAILLAFLLAIAYLIVKELHAENLKNEDDVDTGLLGFWTLLIIS
                     LTAGFSCCSFSWTVTYFDSFEPGMFPPTPLSPARFKKLTGHSFHMGYSMAILNGIVAA
                     LTVAWCLM"
     exon            406..459
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..592
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /inference="alignment:Splign:2.1.0"
     exon            593..3242
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1591..1596
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="hexamer: AATAAA"
     polyA_site      1609
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="major polyA site"
     regulatory      2004..2009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="hexamer: AACAAG"
     polyA_site      2019
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="major polyA site"
     polyA_site      2099
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
     regulatory      3210..3215
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
                     /note="hexamer: AATAAA"
     polyA_site      3242
                     /gene="ARL6IP6"
                     /gene_synonym="AIP-6; AIP6; PFAAP1"
ORIGIN      
        1 gcgccatgtc gtttgctgag agcgggtggc ggtcggctct gcggcgccgc ggtcccggca
       61 ccccgggccc tgtggctcgg ccatcgtatt cctcctttac tcagggggac agctggggtg
      121 aaggcgaagt cgacgaggag gagggatgcg accaagtggc ccgcgacctg cgggcggagt
      181 tctcggctgg ggcgtggtca gagcccagaa agcgctcggt gctcccgccg gacgggaacg
      241 ggtcgcccgt tctgcccgat aagcgcaatg gtatctttcc cgcggccgcg ggcagcagag
      301 cccagcctcg gcggtggccg gtccaggtcc tctctattct ctgctcgctg ctcttcgcca
      361 ttcttctcgc cttcctcctc gccatcgcct acttgatcgt taaagagttg catgctgaga
      421 atttgaaaaa tgaagatgat gtagacactg gactattagg attctggact ctacttataa
      481 tatccctaac tgctggattc tcctgttgca gcttttcttg gacagtgact tactttgatt
      541 cttttgaacc aggaatgttt cctcctactc ctctttcacc tgccaggttc aagaaactga
      601 ctggacattc tttccacatg ggctatagca tggcgatttt gaatggcatc gtagctgctc
      661 ttactgtagc atggtgcctc atgtaaaccc acactggagc gatattgttg gcaaaactta
      721 atcatgattg ttttgtaata acaagaagga gcatcactgt ctactcagaa gactgagaaa
      781 cctgctgttc attatgtagt tcagatattt atcacaatca tcctcattat ggaagacctt
      841 ttaaagcatt gttttagaat gtctgagtat taagatacag attaattggg aatatctgag
      901 tattaagtac tttcttcaga gtataagatg tttacctcat ctttttactt ttgtgtgtgt
      961 agttctttca agttgtagga aacattttaa tggaatttaa actcaaaaac ttgaatacag
     1021 gacaatgctt gccttttcat gtatgtacta cattttttgc taagaaatac tgatatttct
     1081 gtttagttga gctagaaata cttcttattt atacatttag gaaagcaaat aatgcctact
     1141 actccgactt ttatagaagc tacttttaaa tcagaatatt taatttttga tattcatata
     1201 attaatagaa gttgcattta tattttttat ggggcatagt tccttatgtg tttttttaat
     1261 gtattttcat actacatact gaatttgtat gtttttaaaa ttgttacatc tagacaactg
     1321 taaacattat ttttttagct agtgcaaacc tagtacctgc catttttact aatttttgtc
     1381 tttaaaaaaa gcaaaaaagc acattgacct aagttgaaaa ttaagtaagt ttatttttaa
     1441 caaaaaatgc ctgaaaaaag ctaaattatt taagtcatta agatattgag aaaaaatttg
     1501 aaatttttac tatttctgtt tccacaattc caaatattta tcttggtgta tatattgtta
     1561 ctttaacaga acttgcatta ttttgttttt aataaatata aacatgaaat ttttgtatgt
     1621 gagaatgatt gaactagttt gttcttaatc tcaaaaattt agttaccaaa gtagaaaagg
     1681 tattttgata ctagatatta aaaactacat atagttaata taattttata atttttgtaa
     1741 ttaaatgtgc tcctgtaatt gtgatatttt gttttctaag taattaagcc ttaatttttc
     1801 ccctatgtta ctaaagactt ttaatgttta gaaagttacc tcagttttag aaagatggac
     1861 tacttacaaa gctgttttcc ctggccatag gaaaacttac aataagaaac cattaagtag
     1921 tcaaactgct tattcaggct aagtgggaaa tgaatttgtg cagtgtgttc ccttaattat
     1981 ctactgaatg ttgttaccga ctaaacaagg tttctaaaag tctcgcattt cttttactat
     2041 tcaaaactct ttggttggaa atgactaata ctgctccaat ttaaattatc tgaaatgtgt
     2101 gtgtgtgtgt gtgtatctaa atatcaatcc catggcttaa gtattcctac cagagtggtg
     2161 gttgccatca gtctattttc actccctgcc ttccttcctg cacgcttaaa ctcttcaccc
     2221 tttgactcca aagagccctt tcattgcaaa gatgtacaca agtaacagaa tcaatttatc
     2281 ttctctccac cactctgtat tcccacgcac caccaatgtg agtaactccc tccagattgt
     2341 ttgtgtctaa tgactaggaa agttattaac agtagaccct agatagagat atgtacaccc
     2401 tagacagtca tgtgccatat aacaacgttt tggtcacaac gaactgtact tatgatagtg
     2461 aatccccccg taagattata ctgctgcatt ttttacttta ttttttctct gtttagatac
     2521 acaaatattt accattgtgt tacagttgcc tgcaatattc agtacagtaa catgcagtac
     2581 aggtttatag tctaggagca ataagctata ccatatagcc taggtgtgta gtaggctata
     2641 ccatctaggt ttgtgtaagt atactctgat gttcacacaa tgatgaaatt gcctaatgac
     2701 gcttttctca gaatatatcc ttgtcattaa gccaaacatg actatatata cctacaagat
     2761 atatattaat atagataaat atagagagag atgtatccgt aagatatttt tgtggaatcc
     2821 taattcttct ggactgttac tccccttttt tgggaaatga ccctcctctc tccagtctga
     2881 cacagggtcc aaatataaat catctatatg cagaatgatt aggcaaggat agtcacctaa
     2941 ctctggctga gctaatccta atctcatttt gcctggctac aatgagtaga atagagaaat
     3001 gacttcagtg aagtatgtct cttcccagga tttttcagct tgaaattaag atgtgacgaa
     3061 gctgggaaaa tgcaagccca ggaaatgctg gcagctgtag ttcagccagg ctcagtggga
     3121 aagaataagg ctgataacgg atattgctaa tggcgttacc ctggtccctg aagcccagtg
     3181 gcaatcctgc cattcttgat acgtgagtca ataaatttct gtcttttggc ctttgcagtt
     3241 ta
//
