ELMD1_HUMAN
ID ELMD1_HUMAN Reviewed; 334 AA.
AC Q8N336; B4E167; G5E9S5; Q9NPW3;
DT 07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-MAR-2006, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=ELMO domain-containing protein 1;
GN Name=ELMOD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Kidney;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 138-334 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP FUNCTION.
RX PubMed=17452337; DOI=10.1074/jbc.m701347200;
RA Bowzard J.B., Cheng D., Peng J., Kahn R.A.;
RT "ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs.";
RL J. Biol. Chem. 282:17568-17580(2007).
CC -!- FUNCTION: Acts as a GTPase-activating protein (GAP) toward guanine
CC nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for
CC GTPases outside the Arf family. {ECO:0000269|PubMed:17452337}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N336-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N336-2; Sequence=VSP_044832, VSP_044833;
CC Name=3;
CC IsoId=Q8N336-3; Sequence=VSP_044833;
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DR EMBL; AK303689; BAG64679.1; -; mRNA.
DR EMBL; AP000889; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP002353; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471065; EAW67091.1; -; Genomic_DNA.
DR EMBL; BC028725; AAH28725.3; -; mRNA.
DR EMBL; AL359601; CAB94879.1; -; mRNA.
DR CCDS; CCDS44723.1; -. [Q8N336-1]
DR CCDS; CCDS44724.1; -. [Q8N336-3]
DR PIR; T50627; T50627.
DR RefSeq; NP_001123509.1; NM_001130037.1. [Q8N336-3]
DR RefSeq; NP_001294947.1; NM_001308018.1.
DR RefSeq; NP_061182.3; NM_018712.3. [Q8N336-1]
DR AlphaFoldDB; Q8N336; -.
DR SMR; Q8N336; -.
DR BioGRID; 120702; 13.
DR IntAct; Q8N336; 5.
DR STRING; 9606.ENSP00000265840; -.
DR iPTMnet; Q8N336; -.
DR PhosphoSitePlus; Q8N336; -.
DR BioMuta; ELMOD1; -.
DR MassIVE; Q8N336; -.
DR PaxDb; Q8N336; -.
DR PeptideAtlas; Q8N336; -.
DR PRIDE; Q8N336; -.
DR ProteomicsDB; 34030; -.
DR ProteomicsDB; 71760; -. [Q8N336-1]
DR Antibodypedia; 45528; 135 antibodies from 21 providers.
DR DNASU; 55531; -.
DR Ensembl; ENST00000265840.12; ENSP00000265840.7; ENSG00000110675.13. [Q8N336-1]
DR Ensembl; ENST00000443271.2; ENSP00000412257.2; ENSG00000110675.13. [Q8N336-3]
DR GeneID; 55531; -.
DR KEGG; hsa:55531; -.
DR MANE-Select; ENST00000265840.12; ENSP00000265840.7; NM_018712.4; NP_061182.3.
DR UCSC; uc001pjm.4; human. [Q8N336-1]
DR CTD; 55531; -.
DR DisGeNET; 55531; -.
DR GeneCards; ELMOD1; -.
DR HGNC; HGNC:25334; ELMOD1.
DR HPA; ENSG00000110675; Group enriched (brain, pituitary gland, retina, skin).
DR MIM; 615456; gene.
DR neXtProt; NX_Q8N336; -.
DR OpenTargets; ENSG00000110675; -.
DR PharmGKB; PA134903991; -.
DR VEuPathDB; HostDB:ENSG00000110675; -.
DR eggNOG; KOG2998; Eukaryota.
DR GeneTree; ENSGT00940000159782; -.
DR HOGENOM; CLU_056289_0_0_1; -.
DR InParanoid; Q8N336; -.
DR OMA; KFSKTEW; -.
DR OrthoDB; 1282549at2759; -.
DR PhylomeDB; Q8N336; -.
DR TreeFam; TF323472; -.
DR PathwayCommons; Q8N336; -.
DR SignaLink; Q8N336; -.
DR BioGRID-ORCS; 55531; 11 hits in 1074 CRISPR screens.
DR ChiTaRS; ELMOD1; human.
DR GenomeRNAi; 55531; -.
DR Pharos; Q8N336; Tbio.
DR PRO; PR:Q8N336; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q8N336; protein.
DR Bgee; ENSG00000110675; Expressed in lateral nuclear group of thalamus and 126 other tissues.
DR ExpressionAtlas; Q8N336; baseline and differential.
DR Genevisible; Q8N336; HS.
DR GO; GO:0005096; F:GTPase activator activity; IDA:UniProtKB.
DR GO; GO:0043547; P:positive regulation of GTPase activity; IEA:InterPro.
DR InterPro; IPR006816; ELMO_dom.
DR InterPro; IPR030722; ELMOD1.
DR PANTHER; PTHR12771:SF18; PTHR12771:SF18; 1.
DR Pfam; PF04727; ELMO_CED12; 1.
DR PROSITE; PS51335; ELMO; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; GTPase activation; Reference proteome.
FT CHAIN 1..334
FT /note="ELMO domain-containing protein 1"
FT /id="PRO_0000225014"
FT DOMAIN 133..314
FT /note="ELMO"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00664"
FT VAR_SEQ 1..136
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044832"
FT VAR_SEQ 208..215
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044833"
SQ SEQUENCE 334 AA; 39052 MW; 0B66F6FD397874A5 CRC64;
MKHFLRMLIQ VCLYFYCKFL WRCLKFVMRK LTGRCELQRI CYNTKPGASR TMKIETSLRD
SKSKLLQTSV SVHPDAIEKT IEDIMELKKI NPDVNPQLGI SLQACLLQIV GYRNLIADVE
KLRREAYDSD NPQHEEMLLK LWKFLKPNTP LESRISKQWC EIGFQGDDPK TDFRGMGLLG
LYNLQYFAER DATAAQQVLS DSLHPKCRDI TKEEISKFSK AEWEKKRMDK AIGYSFAIVG
INITDLAYNL LVSGALKTHF YNIAPEAPTL SHFQQTFCYL MHEFHKFWIE EDPMDIMEFN
RVREKFRKRI IKQLQNPDMA LCPHFAASEG LINM
