LOCUS       NP_055615                727 aa            linear   PRI 30-APR-2025
DEFINITION  engulfment and cell motility protein 1 isoform 1 [Homo sapiens].
ACCESSION   NP_055615
VERSION     NP_055615.8
DBSOURCE    REFSEQ: accession NM_014800.11
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 727)
  AUTHORS   Li,C., Yi,J., Jie,H., Liu,Z., Li,S., Zeng,Z. and Zhou,Y.
  TITLE     Acetylation of ELMO1 correlates with Rac1 activity and colorectal
            cancer progress
  JOURNAL   Exp Cell Res 439 (1), 114068 (2024)
   PUBMED   38750717
  REMARK    GeneRIF: Acetylation of ELMO1 correlates with Rac1 activity and
            colorectal cancer progress.
REFERENCE   2  (residues 1 to 727)
  AUTHORS   Hassan,E.A., Elsaid,A.M., Abou-Elzahab,M.M., El-Refaey,A.M.,
            Elmougy,R. and Youssef,M.M.
  TITLE     The Potential Impact of MYH9 (rs3752462) and ELMO1 (rs741301)
            Genetic Variants on the Risk of Nephrotic Syndrome Incidence
  JOURNAL   Biochem Genet 62 (2), 1304-1324 (2024)
   PUBMED   37594641
  REMARK    GeneRIF: The Potential Impact of MYH9 (rs3752462) and ELMO1
            (rs741301) Genetic Variants on the Risk of Nephrotic Syndrome
            Incidence.
REFERENCE   3  (residues 1 to 727)
  AUTHORS   Azarboo,A., Hosseinkhani,S., Ghaseminejad-Raeini,A., Aazami,H.,
            Mohammadi,S.M., Zeidi,S., Razi,F. and Bandarian,F.
  TITLE     Association between ELMO1 gene polymorphisms and diabetic kidney
            disease: A systematic review and meta-analysis
  JOURNAL   PLoS One 19 (1), e0295607 (2024)
   PUBMED   38277369
  REMARK    GeneRIF: Association between ELMO1 gene polymorphisms and diabetic
            kidney disease: A systematic review and meta-analysis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 727)
  AUTHORS   Wen,B., Li,S., Ruan,L., Yang,Y., Chen,Z., Zhang,B., Yang,X.,
            Jie,H., Li,S., Zeng,Z. and Liu,S.
  TITLE     Engulfment and cell motility protein 1 fosters reprogramming of
            tumor-associated macrophages in colorectal cancer
  JOURNAL   Cancer Sci 114 (2), 410-422 (2023)
   PUBMED   36310143
  REMARK    GeneRIF: Engulfment and cell motility protein 1 fosters
            reprogramming of tumor-associated macrophages in colorectal cancer.
REFERENCE   5  (residues 1 to 727)
  AUTHORS   Shimazaki,A., Kawamura,Y., Kanazawa,A., Sekine,A., Saito,S.,
            Tsunoda,T., Koya,D., Babazono,T., Tanaka,Y., Matsuda,M., Kawai,K.,
            Iiizumi,T., Imanishi,M., Shinosaki,T., Yanagimoto,T., Ikeda,M.,
            Omachi,S., Kashiwagi,A., Kaku,K., Iwamoto,Y., Kawamori,R.,
            Kikkawa,R., Nakajima,M., Nakamura,Y. and Maeda,S.
  TITLE     Genetic variations in the gene encoding ELMO1 are associated with
            susceptibility to diabetic nephropathy
  JOURNAL   Diabetes 54 (4), 1171-1178 (2005)
   PUBMED   15793258
  REMARK    GeneRIF: These results indicate that ELMO1 is a novel candidate
            gene that both confers susceptibility to diabetic nephropathy and
            plays an important role in the development and progression of this
            disease.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (residues 1 to 727)
  AUTHORS   Sanui,T., Inayoshi,A., Noda,M., Iwata,E., Stein,J.V., Sasazuki,T.
            and Fukui,Y.
  TITLE     DOCK2 regulates Rac activation and cytoskeletal reorganization
            through interaction with ELMO1
  JOURNAL   Blood 102 (8), 2948-2950 (2003)
   PUBMED   12829596
  REMARK    GeneRIF: the association of DOCK2 with ELMO1 is critical for
            DOCK2-mediated Rac activation, thereby suggesting that their
            association might be a therapeutic target for immunologic disorders
            caused by lymphocyte infiltration
REFERENCE   7  (residues 1 to 727)
  AUTHORS   Katoh,H. and Negishi,M.
  TITLE     RhoG activates Rac1 by direct interaction with the Dock180-binding
            protein Elmo
  JOURNAL   Nature 424 (6947), 461-464 (2003)
   PUBMED   12879077
REFERENCE   8  (residues 1 to 727)
  AUTHORS   Scott,M.P., Zappacosta,F., Kim,E.Y., Annan,R.S. and Miller,W.T.
  TITLE     Identification of novel SH3 domain ligands for the Src family
            kinase Hck. Wiskott-Aldrich syndrome protein (WASP),
            WASP-interacting protein (WIP), and ELMO1
  JOURNAL   J Biol Chem 277 (31), 28238-28246 (2002)
   PUBMED   12029088
REFERENCE   9  (residues 1 to 727)
  AUTHORS   Brugnera,E., Haney,L., Grimsley,C., Lu,M., Walk,S.F.,
            Tosello-Trampont,A.C., Macara,I.G., Madhani,H., Fink,G.R. and
            Ravichandran,K.S.
  TITLE     Unconventional Rac-GEF activity is mediated through the
            Dock180-ELMO complex
  JOURNAL   Nat Cell Biol 4 (8), 574-582 (2002)
   PUBMED   12134158
  REMARK    GeneRIF: Dock180 ELMO complex functions as an unconventional
            two-part exchange factor for Rac.
REFERENCE   10 (residues 1 to 727)
  AUTHORS   Gumienny,T.L., Brugnera,E., Tosello-Trampont,A.C., Kinchen,J.M.,
            Haney,L.B., Nishiwaki,K., Walk,S.F., Nemergut,M.E., Macara,I.G.,
            Francis,R., Schedl,T., Qin,Y., Van Aelst,L., Hengartner,M.O. and
            Ravichandran,K.S.
  TITLE     CED-12/ELMO, a novel member of the CrkII/Dock180/Rac pathway, is
            required for phagocytosis and cell migration
  JOURNAL   Cell 107 (1), 27-41 (2001)
   PUBMED   11595183
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078843.2, AL136787.1 and
            AC007349.1.
            
            On Feb 19, 2002 this sequence version replaced NP_055615.7.
            
            Summary: This gene encodes a member of the engulfment and cell
            motility protein family. These proteins interact with dedicator of
            cytokinesis proteins to promote phagocytosis and cell migration.
            Increased expression of this gene and dedicator of cytokinesis 1
            may promote glioma cell invasion, and single nucleotide
            polymorphisms in this gene may be associated with diabetic
            nephropathy. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Variants 1, 4 and 5 encode the same isoform.
            
            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.
            
            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 :: AL136787.1, SRR1803614.216024.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310758.9/ ENSP00000312185.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..727
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.2-p14.1"
     Protein         1..727
                     /product="engulfment and cell motility protein 1 isoform
                     1"
                     /note="engulfment and cell motility protein 1; ced-12
                     homolog 1"
                     /calculated_mol_wt=83699
     Site            18
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by HCK.
                     /evidence=ECO:0000269|PubMed:15952790; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Site            100
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Site            105
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Region          115..280
                     /region_name="ELMO_ARM"
                     /note="ELMO, armadillo-like helical domain; pfam11841"
                     /db_xref="CDD:463369"
     Site            216
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by HCK.
                     /evidence=ECO:0000269|PubMed:15952790; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Region          303..481
                     /region_name="ELMO_CED12"
                     /note="ELMO/CED-12 family; pfam04727"
                     /db_xref="CDD:461411"
     Site            344
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BPU7; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by HCK.
                     /evidence=ECO:0000269|PubMed:15952790; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Site            511
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by HCK.
                     /evidence=ECO:0000269|PubMed:15952790; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     Region          546..675
                     /region_name="PH_ELMO1_CED-12"
                     /note="Engulfment and cell motility protein 1 pleckstrin
                     homology (PH) domain; cd13359"
                     /db_xref="CDD:270166"
     Region          707..714
                     /region_name="SH3-binding"
                     /note="propagated from UniProtKB/Swiss-Prot (Q92556.2)"
     Site            720
                     /site_type="phosphorylation"
                     /note="Phosphotyrosine, by HCK.
                     /evidence=ECO:0000269|PubMed:15952790; propagated from
                     UniProtKB/Swiss-Prot (Q92556.2)"
     CDS             1..727
                     /gene="ELMO1"
                     /gene_synonym="CED-12; CED12; ELMO-1"
                     /coded_by="NM_014800.11:264..2447"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5449.1"
                     /db_xref="GeneID:9844"
                     /db_xref="HGNC:HGNC:16286"
                     /db_xref="MIM:606420"
ORIGIN      
        1 mpppadivkv aiewpgaypk lmeidqkkpl saiikevcdg wslanheyfa lqhadssnfy
       61 iteknrneik ngtilrltts paqnaqqlhe riqsssmdak lealkdlasl srdvtfaqef
      121 inldgisllt qmvesgtery qklqkimkpc fgdmlsftlt afvelmdhgi vswdtfsvaf
      181 ikkiasfvnk saidisilqr slailesmvl nshdlyqkva qeitigqlip hlqgsdqeiq
      241 tytiavinal flkapderrq emanilaqkq lrsiilthvi raqrainnem ahqlyvlqvl
      301 tfnlledrmm tkmdpqdqaq rdiifelrri afdaesepnn ssgsmekrks mytrdykklg
      361 finhvnpamd ftqtppgmla ldnmlyfakh hqdayirivl enssredkhe cpfgrssiel
      421 tkmlceilkv gelpsetcnd fhpmffthdr sfeeffcici qllnktwkem ratsedfnkv
      481 mqvvkeqvmr alttkpssld qfksklqnls yteilkirqs ermnqedfqs rpilelkeki
      541 qpeilelikq qrlnrlvegt cfrklnarrr qdkfwycrls pnhkvlhygd leespqgevp
      601 hdslqdklpv adikavvtgk dcphmkekga lkqnkevlel afsilydsnc qlnfiapdkh
      661 eyciwtdgln allgkdmmsd ltrndldtll smeiklrlld leniqipdap ppipkepsny
      721 dfvydcn
//
