LOCUS       NP_001034761             314 aa            linear   PRI 27-APR-2025
DEFINITION  protein YIF1B isoform 5 [Homo sapiens].
ACCESSION   NP_001034761
VERSION     NP_001034761.1
DBSOURCE    REFSEQ: accession NM_001039672.3
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  (residues 1 to 314)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (residues 1 to 314)
  AUTHORS   Diaz,J., Gerard,X., Emerit,M.B., Areias,J., Geny,D., Degardin,J.,
            Simonutti,M., Guerquin,M.J., Collin,T., Viollet,C., Billard,J.M.,
            Metin,C., Hubert,L., Larti,F., Kahrizi,K., Jobling,R., Agolini,E.,
            Shaheen,R., Zigler,A., Rouiller-Fabre,V., Rozet,J.M., Picaud,S.,
            Novelli,A., Alameer,S., Najmabadi,H., Cohn,R., Munnich,A.,
            Barth,M., Lugli,L., Alkuraya,F.S., Blaser,S., Gashlan,M.,
            Besmond,C., Darmon,M. and Masson,J.
  TITLE     YIF1B mutations cause a post-natal neurodevelopmental syndrome
            associated with Golgi and primary cilium alterations
  JOURNAL   Brain 143 (10), 2911-2928 (2020)
   PUBMED   33103737
  REMARK    GeneRIF: YIF1B mutations cause a post-natal neurodevelopmental
            syndrome associated with Golgi and primary cilium alterations.
            Erratum:[Brain. 2021 May 7;144(4):e40. doi: 10.1093/brain/awaa449.
            PMID: 33438001]
REFERENCE   3  (residues 1 to 314)
  AUTHORS   Liu,J., Chen,Z., Zhao,P. and Li,W.
  TITLE     Prognostic and immune regulating roles of YIF1B in Pan-Cancer: a
            potential target for both survival and therapy response evaluation
  JOURNAL   Biosci Rep 40 (7) (2020)
   PUBMED   32648580
  REMARK    GeneRIF: Prognostic and immune regulating roles of YIF1B in
            Pan-Cancer: a potential target for both survival and therapy
            response evaluation.
REFERENCE   4  (residues 1 to 314)
  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   5  (residues 1 to 314)
  AUTHORS   AlMuhaizea,M., AlMass,R., AlHargan,A., AlBader,A., Medico
            Salsench,E., Howaidi,J., Ihinger,J., Karachunski,P., Begtrup,A.,
            Segura Castell,M., Bauer,P., Bertoli-Avella,A., Kaya,I.H.,
            AlSufayan,J., AlQuait,L., Chedrawi,A., Arold,S.T., Colak,D.,
            Barakat,T.S. and Kaya,N.
  TITLE     Truncating mutations in YIF1B cause a progressive encephalopathy
            with various degrees of mixed movement disorder, microcephaly, and
            epilepsy
  JOURNAL   Acta Neuropathol 139 (4), 791-794 (2020)
   PUBMED   32006098
  REMARK    GeneRIF: Truncating mutations in YIF1B cause a progressive
            encephalopathy with various degrees of mixed movement disorder,
            microcephaly, and epilepsy.
REFERENCE   6  (residues 1 to 314)
  AUTHORS   Graab,P., Bock,C., Weiss,K., Hirth,A., Koller,N., Braner,M.,
            Jung,J., Loehr,F., Tampe,R., Behrends,C. and Abele,R.
  TITLE     Lysosomal targeting of the ABC transporter TAPL is determined by
            membrane-localized charged residues
  JOURNAL   J Biol Chem 294 (18), 7308-7323 (2019)
   PUBMED   30877195
REFERENCE   7  (residues 1 to 314)
  AUTHORS   Sokolina,K., Kittanakom,S., Snider,J., Kotlyar,M., Maurice,P.,
            Gandia,J., Benleulmi-Chaachoua,A., Tadagaki,K., Oishi,A., Wong,V.,
            Malty,R.H., Deineko,V., Aoki,H., Amin,S., Yao,Z., Morato,X.,
            Otasek,D., Kobayashi,H., Menendez,J., Auerbach,D., Angers,S.,
            Przulj,N., Bouvier,M., Babu,M., Ciruela,F., Jockers,R., Jurisica,I.
            and Stagljar,I.
  TITLE     Systematic protein-protein interaction mapping for clinically
            relevant human GPCRs
  JOURNAL   Mol Syst Biol 13 (3), 918 (2017)
   PUBMED   28298427
  REMARK    Erratum:[Mol Syst Biol. 2025 Feb;21(2):208-209. doi:
            10.1038/s44320-024-00080-3. PMID: 39762653]
            Publication Status: Online-Only
REFERENCE   8  (residues 1 to 314)
  AUTHORS   Alterio,J., Masson,J., Diaz,J., Chachlaki,K., Salman,H., Areias,J.,
            Al Awabdh,S., Emerit,M.B. and Darmon,M.
  TITLE     Yif1B Is Involved in the Anterograde Traffic Pathway and the Golgi
            Architecture
  JOURNAL   Traffic 16 (9), 978-993 (2015)
   PUBMED   26077767
REFERENCE   9  (residues 1 to 314)
  AUTHORS   Carrel,D., Masson,J., Al Awabdh,S., Capra,C.B., Lenkei,Z.,
            Hamon,M., Emerit,M.B. and Darmon,M.
  TITLE     Targeting of the 5-HT1A serotonin receptor to neuronal dendrites is
            mediated by Yif1B
  JOURNAL   J Neurosci 28 (32), 8063-8073 (2008)
   PUBMED   18685031
REFERENCE   10 (residues 1 to 314)
  AUTHORS   Medico-Salsench,E., Kaya,N. and Barakat,T.S.
  TITLE     YIF1B-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   39265055
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW630507.1, BC091477.1, AC011479.7 and AK027130.1.
            
            Transcript Variant: This variant (5) encodes the longest isoform
            (5).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163655.105240.1,
                                           SRR5189661.12937.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339413.11/ ENSP00000343435.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..314
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     Protein         1..314
                     /product="protein YIF1B isoform 5"
                     /note="protein YIF1B; YIP1-interacting factor homolog B"
                     /calculated_mol_wt=34304
     Region          1..55
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:Q9CX30; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            13
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q9CX30; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            65
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:19690332; propagated from
                     UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Region          75..309
                     /region_name="YIF1"
                     /note="pfam03878"
                     /db_xref="CDD:461081"
     Site            157..177
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            193..213
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            220..240
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            242..262
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     Site            293..313
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5BJH7.1)"
     CDS             1..314
                     /gene="YIF1B"
                     /gene_synonym="FinGER8; KABAMAS"
                     /coded_by="NM_001039672.3:31..975"
                     /note="isoform 5 is encoded by transcript variant 5"
                     /db_xref="CCDS:CCDS33010.1"
                     /db_xref="GeneID:90522"
                     /db_xref="HGNC:HGNC:30511"
                     /db_xref="MIM:619109"
ORIGIN      
        1 mhpaglaaaa agtprlrkwp skrripvsqp gmadphqlfd dtssaqsrgy gaqrapggls
       61 ypaasptpha afladpvsnm amaygsslaa qgkelvdkni drfipitklk yyfavdtmyv
      121 grklgllffp ylhqdwevqy qqdtpvaprf dvnapdlyip amafityvlv aglalgtqdr
      181 fspdllglqa ssalawltle vlaillslyl vtvntdltti dlvaflgyky vgmiggvlmg
      241 llfgkigyyl vlgwccvaif vfmirtlrlk iladaaaegv pvrgarnqlr myltmavaaa
      301 qpmlmywltf hlvr
//
