LOCUS       NM_030799               3144 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens Yip1 domain family member 5 (YIPF5), transcript
            variant 2, mRNA.
ACCESSION   NM_030799
VERSION     NM_030799.9
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 3144)
  AUTHORS   David,D., Fino,J., Oliveira,R., Doria,S. and Morton,C.C.
  TITLE     Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in
            non-obstructive oligoasthenozoospermia and oligozoospermia and of a
            derivative chromosome 22 in recurrent miscarriage
  JOURNAL   Gene 887, 147737 (2023)
   PUBMED   37625567
  REMARK    GeneRIF: Balanced chromosomal rearrangements implicate YIPF5 and
            SPATC1L in non-obstructive oligoasthenozoospermia and
            oligozoospermia and of a derivative chromosome 22 in recurrent
            miscarriage.
REFERENCE   2  (bases 1 to 3144)
  AUTHORS   Liu,X., Wu,Y., Li,Y., Li,K., Hou,S., Ding,M., Tan,J., Zhu,Z.,
            Tang,Y., Liu,Y., Sun,Q., Wang,C. and Zhang,C.
  TITLE     Vitamin D receptor (VDR) mediates the quiescence of activated
            hepatic stellate cells (aHSCs) by regulating M2 macrophage exosomal
            smooth muscle cell-associated protein 5 (SMAP-5)
  JOURNAL   J Zhejiang Univ Sci B 24 (3), 248-261 (2023)
   PUBMED   36916000
  REMARK    GeneRIF: Vitamin D receptor (VDR) mediates the quiescence of
            activated hepatic stellate cells (aHSCs) by regulating M2
            macrophage exosomal smooth muscle cell-associated protein 5
            (SMAP-5).
REFERENCE   3  (bases 1 to 3144)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3144)
  AUTHORS   De Franco,E., Lytrivi,M., Ibrahim,H., Montaser,H., Wakeling,M.N.,
            Fantuzzi,F., Patel,K., Demarez,C., Cai,Y., Igoillo-Esteve,M.,
            Cosentino,C., Lithovius,V., Vihinen,H., Jokitalo,E., Laver,T.W.,
            Johnson,M.B., Sawatani,T., Shakeri,H., Pachera,N., Haliloglu,B.,
            Ozbek,M.N., Unal,E., Yildirim,R., Godbole,T., Yildiz,M., Aydin,B.,
            Bilheu,A., Suzuki,I., Flanagan,S.E., Vanderhaeghen,P., Senee,V.,
            Julier,C., Marchetti,P., Eizirik,D.L., Ellard,S.,
            Saarimaki-Vire,J., Otonkoski,T., Cnop,M. and Hattersley,A.T.
  TITLE     YIPF5 mutations cause neonatal diabetes and microcephaly through
            endoplasmic reticulum stress
  JOURNAL   J Clin Invest 130 (12), 6338-6353 (2020)
   PUBMED   33164986
  REMARK    GeneRIF: YIPF5 mutations cause neonatal diabetes and microcephaly
            through endoplasmic reticulum stress.
REFERENCE   5  (bases 1 to 3144)
  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   6  (bases 1 to 3144)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   7  (bases 1 to 3144)
  AUTHORS   Chen,C.Z., Calero,M., DeRegis,C.J., Heidtman,M., Barlowe,C. and
            Collins,R.N.
  TITLE     Genetic analysis of yeast Yip1p function reveals a requirement for
            Golgi-localized rab proteins and rab-Guanine nucleotide
            dissociation inhibitor
  JOURNAL   Genetics 168 (4), 1827-1841 (2004)
   PUBMED   15611160
REFERENCE   8  (bases 1 to 3144)
  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 3144)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 3144)
  AUTHORS   Tang,B.L., Ong,Y.S., Huang,B., Wei,S., Wong,E.T., Qi,R.,
            Horstmann,H. and Hong,W.
  TITLE     A membrane protein enriched in endoplasmic reticulum exit sites
            interacts with COPII
  JOURNAL   J Biol Chem 276 (43), 40008-40017 (2001)
   PUBMED   11489904
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP310538.1 and AY640926.1.
            
            On Nov 23, 2018 this sequence version replaced NM_030799.8.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 2 encode the same protein
            (isoform a).
            
            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 :: SRR3476690.92146.1,
                                           SRR1803613.113151.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274496.10/ ENSP00000274496.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BP310538.1         56-84
            30-3144             AY640926.1         1-3115
FEATURES             Location/Qualifiers
     source          1..3144
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..3144
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /note="Yip1 domain family member 5"
                     /db_xref="GeneID:81555"
                     /db_xref="HGNC:HGNC:24877"
                     /db_xref="MIM:611483"
     exon            1..125
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     exon            126..245
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..909
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /note="isoform a is encoded by transcript variant 2;
                     smooth muscle cell associated protein 5; golgi membrane
                     protein SB140; protein YIPF5; YIP1 family member 5;
                     YPT-interacting protein 1 A; five-pass transmembrane
                     protein localizing in the Golgi apparatus and the
                     endoplasmic reticulum 5"
                     /codon_start=1
                     /product="protein YIPF5 isoform a"
                     /protein_id="NP_110426.4"
                     /db_xref="CCDS:CCDS4279.1"
                     /db_xref="GeneID:81555"
                     /db_xref="HGNC:HGNC:24877"
                     /db_xref="MIM:611483"
                     /translation="MSGFENLNTDFYQTSYSIDDQSQQSYDYGGSGGPYSKQYAGYDY
                     SQQGRFVPPDMMQPQQPYTGQIYQPTQAYTPASPQPFYGNNFEDEPPLLEELGINFDH
                     IWQKTLTVLHPLKVADGSIMNETDLAGPMVFCLAFGATLLLAGKIQFGYVYGISAIGC
                     LGMFCLLNLMSMTGVSFGCVASVLGYCLLPMILLSSFAVIFSLQGMVGIILTAGIIGW
                     CSFSASKIFISALAMEGQQLLVAYPCALLYGVFALISVF"
     exon            246..418
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     exon            419..564
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     exon            565..746
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     exon            747..3144
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2014..2019
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /note="hexamer: ATTAAA"
     polyA_site      2033
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
     regulatory      3115..3120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /note="hexamer: ATTAAA"
     polyA_site      3144
                     /gene="YIPF5"
                     /gene_synonym="FinGER5; MEDS2; SB140; SMAP-5; SMAP5;
                     YIP1A; YIPFalpha1A"
                     /note="major polyA site"
ORIGIN      
        1 ggaagccgtt ctttggccct gtgacacgta gcaacggggc tggttcaggg tctgaaacag
       61 agtttggggg ttgtttggga ttagtgaagc tactgccttt gccgccagcg cagcctcaga
      121 gtttgattat ttgcaatgtc aggctttgaa aacttaaaca cggatttcta ccagacaagt
      181 tacagcatcg atgatcagtc acagcagtcc tatgattatg gaggaagtgg aggaccctat
      241 agcaaacagt atgctggcta tgactattcg cagcaaggca gatttgtccc tccagacatg
      301 atgcagccac aacagccata caccgggcag atttaccagc caactcaggc atatactcca
      361 gcttcacctc agcctttcta tggaaacaac tttgaggatg agccaccttt attagaagag
      421 ttaggtatca attttgacca catctggcaa aaaacactaa cagtattaca tccgttaaaa
      481 gtagcagatg gcagcatcat gaatgaaact gatttggcag gtccaatggt tttttgcctt
      541 gcttttggag ccacattgct actggctggc aaaatccagt ttggctatgt atacgggatc
      601 agtgcaattg gatgtctagg aatgttttgt ttattaaact taatgagtat gacaggtgtt
      661 tcatttggtt gtgtggcaag tgtccttgga tattgtcttc tgcccatgat cctactttcc
      721 agctttgcag tgatattttc tttgcaagga atggtaggaa tcattctcac tgctgggatt
      781 attggatggt gtagtttttc tgcttccaaa atatttattt ctgcattagc catggaagga
      841 cagcaacttt tagtagcata tccttgcgct ttgttatatg gagtctttgc cctgatttcc
      901 gtcttttgaa aatttatctg ggatgtggac atcagtgggc cagatgtaca aaaaggacct
      961 tgaactctta aattggacca gcaaactgct gcagcgcaac tctcatgcag atttacattt
     1021 gactgttgga gcaatgaaag taaacgtgta tctcttgttc atttttatag aacttttgca
     1081 tactatattg gatttacctg cggtgtgact agctttaaat gtttgtgttt atacagataa
     1141 gaaatgctat ttctttctgg ttcctgcagc cattgaaaaa cctttttcct tgcaaattat
     1201 aatgtttttg atagattttt atcaactgtg ggaaaccaaa cacaaagctg ataacctttc
     1261 ttaaaaacga cccagtcaca gtaaagaaga cacaagacgg ccgggcgtgg tagctcacgc
     1321 ctgtaatccc agcactttgg gaggccgagg cgggcggatc acaagggcag gagatcgaga
     1381 ccatcctggt taacacggtg aaaccccgac tctactaaaa ctacaaaaaa aattagctgg
     1441 gcgtggtggc gggcgcctgt agtcccagct actcaggagg ctgaggcagg agaagtgtga
     1501 acccaggagg cggagcttgc agtgagccga gatcacacca ctgcactcca tccagcctgg
     1561 gtgacagggt gagactctgt ctcaaaaaaa aaaaaaaaag gagacacaag acttactgca
     1621 aaaatatttt tccaaggatt taggaaagaa aaattgcctt gtattctcaa gtcaggtaac
     1681 tcaaagcaaa aaagtgatcc aaatgtagag tatgagtttg cactccaaaa atttgacatt
     1741 actgtaaatt atctcatgga atttttgcta aaattcagag atacgggaag ttcacaatct
     1801 accttattgt agacatgaaa tgcgaacact tacttacata ttaatgttaa ctcaacctta
     1861 gggacctgga atggttgcat taatgctata atcgttggat cgccacattt cccaaaaata
     1921 ataaaaaaat cactaacctt ttttaaggaa aatatttaaa gttttacaaa attcaatatt
     1981 gcaattatca atgtaaagta catttgaatg cttattaaaa ctttcccaat taattttaac
     2041 tgtgttattg aatttacttt tactaaacta ctgttctctt tgtctctttt ttaactaggc
     2101 tctgattttg acccctaatt taagctttaa gaatagaaat cagctaatat agaatcagac
     2161 aaaaagggga ttaaatgagc agtttgagtt acattatttt attgtattaa atttatttga
     2221 tttatattgt catgttctct tgccagagag aatctgtagg aaaatactgt atcttgtata
     2281 ctgatcattg gctttttcta gaaaaactgt ctctgattct ggacaaagct cagttatagt
     2341 tacgagaaag atatggtaca gggaggaaaa tactgccttt tttttttttt taaagagatt
     2401 ttcagactaa atagaaatgt caaaatgatg tatcaatggt tcttttttag aacaagtttt
     2461 caaagcataa aaagaggttg agagaaataa catatttatt gattcacata agtatgtttt
     2521 tcttcattaa tcgtctggag aaacccactt gtcattaatt tgttttgggc taggttttca
     2581 aacttaccaa attgctttaa aaaagcaatt tggaaggtaa tttgataggc tttccaactt
     2641 aaccaaattt tttattgtaa ttcttggata gtatttttgt ctttttcaat tcatttgtct
     2701 ttttcagtat agtttttgtt aaggcaaatg tcttccctta atatccaaat attgctaata
     2761 aacggtagaa gatgctttgg aaattaaaat tatctcgctg ttggttagac ttaacactgt
     2821 taatcttcag ccaaatatca catatggatc aaattatttt cttttttgtt gtttacccta
     2881 tcctcaacaa catttttagt ttaaattatt gtagagattt tttttgtggt ggttattttt
     2941 tattttgctc caaaataata aggtgcaaag ctattttatg cttaactgtt gctctgtcaa
     3001 aacagctatg cagtggagtt gcatttgatg ttctagagtt tgattacatg cagagttgta
     3061 tatagccaaa acttctctta tcaaactctg ttatgtaggc atatttatat atacattaaa
     3121 gactgttgta ctgtgtctca aaaa
//
