LOCUS       NP_001001936             818 aa            linear   PRI 27-APR-2025
DEFINITION  actin filament-associated protein 1-like 2 isoform 1 [Homo
            sapiens].
ACCESSION   NP_001001936
VERSION     NP_001001936.1
DBSOURCE    REFSEQ: accession NM_001001936.3
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 818)
  AUTHORS   Ungarreevittaya,P., Nintra,O., Sirithanaphol,W., Chindaprasirt,J.
            and Sangkhamanon,S.
  TITLE     High XB130 expression in renal cell carcinoma is strongly
            associated with poor prognosis
  JOURNAL   Ann Diagn Pathol 67, 152190 (2023)
   PUBMED   37729738
  REMARK    GeneRIF: High XB130 expression in renal cell carcinoma is strongly
            associated with poor prognosis.
REFERENCE   2  (residues 1 to 818)
  AUTHORS   Yang,S., Wang,B., Liao,J., Hong,Z., Zhong,X., Chen,S., Wu,Z.,
            Zhang,X. and Zuo,Q.
  TITLE     Molecular mechanism of XB130 adaptor protein mediates trastuzumab
            resistance in gastric cancer
  JOURNAL   Clin Transl Oncol 25 (3), 685-695 (2023)
   PUBMED   36284062
  REMARK    GeneRIF: Molecular mechanism of XB130 adaptor protein mediates
            trastuzumab resistance in gastric cancer.
REFERENCE   3  (residues 1 to 818)
  AUTHORS   Poosekeaw,P., Pairojkul,C., Sripa,B., Sa Ngiamwibool,P.,
            Iamsaard,S., Sakonsinsiri,C., Thanan,R. and Ungarreevittaya,P.
  TITLE     Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma
  JOURNAL   PLoS One 16 (11), e0259075 (2021)
   PUBMED   34780466
  REMARK    GeneRIF: Adaptor protein XB130 regulates the aggressiveness of
            cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 818)
  AUTHORS   Wang,Q., Yang,G., Jiang,Y., Luo,M., Li,C., Zhao,Y., Xie,Y., Song,K.
            and Zhou,J.
  TITLE     XB130, regulated by miR-203, miR-219, and miR-4782-3p, mediates the
            proliferation and metastasis of non-small-cell lung cancer cells
  JOURNAL   Mol Carcinog 59 (5), 557-568 (2020)
   PUBMED   32159887
  REMARK    GeneRIF: High XB130 expression is associated with proliferation and
            metastasis of non-small-cell lung cancer.
REFERENCE   5  (residues 1 to 818)
  AUTHORS   Xie,T., Jiang,C., Dai,T., Xu,R., Zhou,X., Su,X. and Zhao,X.
  TITLE     Knockdown of XB130 restrains cancer stem cell-like phenotype
            through inhibition of Wnt/beta-Catenin signaling in breast cancer
  JOURNAL   Mol Carcinog 58 (10), 1832-1845 (2019)
   PUBMED   31219645
  REMARK    GeneRIF: This study indicates that XB130 plays an important role in
            maintaining the epithelial-mesenchymal transition (EMT) and stem
            cell-like characteristics of breast cancer cells, supporting the
            significance of XB130 as a new potential therapeutic target for
            early diagnosis and prognosis of breast cancer.
REFERENCE   6  (residues 1 to 818)
  AUTHORS   Cirulli,E.T., Kasperaviciute,D., Attix,D.K., Need,A.C., Ge,D.,
            Gibson,G. and Goldstein,D.B.
  TITLE     Common genetic variation and performance on standardized cognitive
            tests
  JOURNAL   Eur J Hum Genet 18 (7), 815-820 (2010)
   PUBMED   20125193
  REMARK    Erratum:[Eur J Hum Genet. 2010 Jul;18(7):820]
REFERENCE   7  (residues 1 to 818)
  AUTHORS   Xu,J., Bai,X.H., Lodyga,M., Han,B., Xiao,H., Keshavjee,S., Hu,J.,
            Zhang,H., Yang,B.B. and Liu,M.
  TITLE     XB130, a novel adaptor protein for signal transduction
  JOURNAL   J Biol Chem 282 (22), 16401-16412 (2007)
   PUBMED   17412687
REFERENCE   8  (residues 1 to 818)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (residues 1 to 818)
  AUTHORS   Zhang,Y., Wolf-Yadlin,A., Ross,P.L., Pappin,D.J., Rush,J.,
            Lauffenburger,D.A. and White,F.M.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   10 (residues 1 to 818)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC024314.1, BC033212.1, AC005383.2, AK123108.1, BC035713.1 and
            AB067501.1.
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 3. It encodes
            isoform 1, which is shorter than isoform 3.
            
            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 :: AF474151.1, SRR1803617.110518.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304129.9/ ENSP00000303042.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..818
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.3"
     Protein         1..818
                     /product="actin filament-associated protein 1-like 2
                     isoform 1"
                     /note="AFAP1-like protein 2; CTB-1144G6.6"
                     /calculated_mol_wt=91169
     Site            56
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          66..163
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          165..271
                     /region_name="PH1_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 1; cd13306"
                     /db_xref="CDD:270116"
     Region          353..453
                     /region_name="PH2_AFAP"
                     /note="Actin filament associated protein family Pleckstrin
                     homology (PH) domain, repeat 2; cd13307"
                     /db_xref="CDD:270117"
     Site            408
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Site            413
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Site            484
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q5DTU0; propagated from
                     UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          513..532
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1)"
     Region          <682..>748
                     /region_name="PRK03918"
                     /note="DNA double-strand break repair ATPase Rad50"
                     /db_xref="CDD:235175"
     Region          765..787
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8N4X5.1)"
     CDS             1..818
                     /gene="AFAP1L2"
                     /gene_synonym="CTB-1144G6.4; KIAA1914; XB130"
                     /coded_by="NM_001001936.3:48..2504"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS31286.1"
                     /db_xref="GeneID:84632"
                     /db_xref="HGNC:HGNC:25901"
                     /db_xref="MIM:612420"
ORIGIN      
        1 merykaleql ltelddflki ldqenlssta lvkksclael lrlytkssss deeyiymnkv
       61 tinkqqnaes qgkapeeqgl lpngepsqhs sapqkslpdl pppkmiperk qlaipktesp
      121 egyyeeaepy dtslnedgea vsssyesyde edgskgksap yqwpspeagi elmrdarica
      181 flwrkkwlgq wakqlcvikd nrllcykssk dhspqldvnl lgssvihkek qvrkkehklk
      241 itpmnadviv lglqskdqae qwlrviqevs glpsegaseg nqytpdaqrf ncqkpdiaek
      301 ylsaseygss vdghpevpet kdvkkkcsag lklsnlmnlg rkkstslepv ersletssyl
      361 nvlvnsqwks rwcsvrdnhl hfyqdrnrsk vaqqplslvg cevvpdpspd hlysfrilhk
      421 geelakleak sseemghwlg lllsesgskt dpeeftydyv dadrvscivs aaknslllmq
      481 rkfsepntyi dglpsqdrqe elyddvdlse ltaaveptee atpvaddpne resdrvyldl
      541 tpvksflhgp ssaqaqassp tlscldnate alpadsgpgp tpdepcikcp enlgeqqles
      601 lepedpslri ttvkiqteqq risfppscpd avvatppgas ppvkdrlrvt saeiklgknr
      661 teaevkryte ekerlekkke eirghlaqlr kekrelketl lkctdkevla sleqklkeid
      721 eecrgeesrr vdlelsimev kdnlkkaeag pvtlgttvdt thlenvsprp kavtpasapd
      781 ctpvnsattl knrplsvvvt gkgtvlqkak ewekkgas
//
