ABITM_HUMAN
ID ABITM_HUMAN Reviewed; 181 AA.
AC Q9NX38; Q5JTR0; Q5JTR1;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Protein Abitram {ECO:0000305};
DE AltName: Full=Actin-binding transcription modulator {ECO:0000312|HGNC:HGNC:1364};
DE AltName: Full=Protein Simiate {ECO:0000305};
GN Name=ABITRAM {ECO:0000312|HGNC:HGNC:1364};
GN Synonyms=C9orf6, FAM206A {ECO:0000312|HGNC:HGNC:1364};
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 [MRNA].
RA Mull J., Leyne M., Gill S., Liebert C.B., Chadwick B.P., Gusella J.F.,
RA Slaugenhaupt S.A.;
RT "Isolation and characterization of a novel human transcript in the familial
RT dysautonomia candidate region on human chromosome 9q31.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 DEPLETION.
RX PubMed=24349419; DOI=10.1371/journal.pone.0083007;
RA Derlig K., Giessl A., Brandstatter J.H., Enz R., Dahlhaus R.;
RT "Identification and characterisation of Simiate, a novel protein linked to
RT the fragile X syndrome.";
RL PLoS ONE 8:E83007-E83007(2013).
CC -!- FUNCTION: Actin-binding protein that regulates actin polymerization,
CC filopodia dynamics and increases the branching of proximal dendrites of
CC developing neurons. {ECO:0000250|UniProtKB:Q80ZQ9}.
CC -!- SUBUNIT: Interacts with F-actin (By similarity). Interacts with G-actin
CC (By similarity). {ECO:0000250|UniProtKB:Q80ZQ9}.
CC -!- INTERACTION:
CC Q9NX38; Q8IY42: C4orf19; NbExp=3; IntAct=EBI-9105722, EBI-10216552;
CC Q9NX38; Q6NT76: HMBOX1; NbExp=6; IntAct=EBI-9105722, EBI-2549423;
CC Q9NX38; Q14696: MESD; NbExp=3; IntAct=EBI-9105722, EBI-6165891;
CC Q9NX38; Q3MIT2: PUS10; NbExp=7; IntAct=EBI-9105722, EBI-11983583;
CC -!- SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250|UniProtKB:Q80ZQ9}.
CC Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q80ZQ9}. Nucleus
CC {ECO:0000250|UniProtKB:Q80ZQ9}. Cell projection, growth cone
CC {ECO:0000250|UniProtKB:Q80ZQ9}. Cell projection, dendrite
CC {ECO:0000250|UniProtKB:Q80ZQ9}. Note=Localizes to somata and dendrites
CC in cortical neurons (By similarity). Colocalizes with G- and F-actin in
CC lamellipodia (By similarity). Colocalizes in the nucleus with PTK2 (By
CC similarity). {ECO:0000250|UniProtKB:Q80ZQ9}.
CC -!- MISCELLANEOUS: Depletion of ABITRAM by siRNA or neutralizing antibodies
CC results in cell death within a few hours.
CC {ECO:0000305|PubMed:24349419}.
CC -!- SIMILARITY: Belongs to the ABITRAM family. {ECO:0000305}.
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DR EMBL; AF153417; AAG43367.1; -; mRNA.
DR EMBL; AK000464; BAA91183.1; -; mRNA.
DR EMBL; AL354797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC015795; AAH15795.1; -; mRNA.
DR CCDS; CCDS6774.1; -.
DR RefSeq; NP_060302.1; NM_017832.3.
DR AlphaFoldDB; Q9NX38; -.
DR SMR; Q9NX38; -.
DR BioGRID; 120282; 18.
DR IntAct; Q9NX38; 10.
DR STRING; 9606.ENSP00000363753; -.
DR iPTMnet; Q9NX38; -.
DR PhosphoSitePlus; Q9NX38; -.
DR BioMuta; FAM206A; -.
DR DMDM; 74753037; -.
DR EPD; Q9NX38; -.
DR jPOST; Q9NX38; -.
DR MassIVE; Q9NX38; -.
DR MaxQB; Q9NX38; -.
DR PaxDb; Q9NX38; -.
DR PeptideAtlas; Q9NX38; -.
DR PRIDE; Q9NX38; -.
DR ProteomicsDB; 83030; -.
DR Antibodypedia; 29387; 54 antibodies from 9 providers.
DR DNASU; 54942; -.
DR Ensembl; ENST00000322940.11; ENSP00000363753.3; ENSG00000119328.12.
DR GeneID; 54942; -.
DR KEGG; hsa:54942; -.
DR MANE-Select; ENST00000322940.11; ENSP00000363753.3; NM_017832.4; NP_060302.1.
DR UCSC; uc004bdn.4; human.
DR CTD; 54942; -.
DR DisGeNET; 54942; -.
DR GeneCards; ABITRAM; -.
DR HGNC; HGNC:1364; ABITRAM.
DR HPA; ENSG00000119328; Low tissue specificity.
DR neXtProt; NX_Q9NX38; -.
DR OpenTargets; ENSG00000119328; -.
DR PharmGKB; PA25981; -.
DR VEuPathDB; HostDB:ENSG00000119328; -.
DR eggNOG; KOG3266; Eukaryota.
DR GeneTree; ENSGT00450000040303; -.
DR HOGENOM; CLU_107323_1_0_1; -.
DR InParanoid; Q9NX38; -.
DR OMA; GRPCEDF; -.
DR OrthoDB; 1277002at2759; -.
DR PhylomeDB; Q9NX38; -.
DR TreeFam; TF313930; -.
DR PathwayCommons; Q9NX38; -.
DR SignaLink; Q9NX38; -.
DR BioGRID-ORCS; 54942; 10 hits in 1080 CRISPR screens.
DR ChiTaRS; FAM206A; human.
DR GenomeRNAi; 54942; -.
DR Pharos; Q9NX38; Tbio.
DR PRO; PR:Q9NX38; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9NX38; protein.
DR Bgee; ENSG00000119328; Expressed in bronchial epithelial cell and 204 other tissues.
DR ExpressionAtlas; Q9NX38; baseline and differential.
DR Genevisible; Q9NX38; HS.
DR GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR GO; GO:0032433; C:filopodium tip; ISS:UniProtKB.
DR GO; GO:0030426; C:growth cone; ISS:UniProtKB.
DR GO; GO:0030027; C:lamellipodium; ISS:UniProtKB.
DR GO; GO:0016607; C:nuclear speck; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0051015; F:actin filament binding; ISS:UniProtKB.
DR GO; GO:0003785; F:actin monomer binding; ISS:UniProtKB.
DR GO; GO:0048813; P:dendrite morphogenesis; ISS:UniProtKB.
DR GO; GO:0030833; P:regulation of actin filament polymerization; ISS:UniProtKB.
DR GO; GO:0051489; P:regulation of filopodium assembly; ISS:UniProtKB.
DR InterPro; IPR039169; Abitram.
DR InterPro; IPR033753; GCV_H/Fam206.
DR InterPro; IPR011053; Single_hybrid_motif.
DR PANTHER; PTHR13651; PTHR13651; 1.
DR Pfam; PF01597; GCV_H; 1.
DR SUPFAM; SSF51230; SSF51230; 1.
PE 1: Evidence at protein level;
KW Actin-binding; Cell projection; Nucleus; Reference proteome.
FT CHAIN 1..181
FT /note="Protein Abitram"
FT /id="PRO_0000291928"
SQ SEQUENCE 181 AA; 20378 MW; 2336750B1E59EB32 CRC64;
MATEPEAAEP VVPSLVDRYF TRWYKPDVKG KFCEDHCILQ HSNRICVITL AESHPVLQSG
KTIKSISYQI STNCSRLQNK VSGKFKRGAQ FLTELAPLCK IYCSDGEEYT VSSCVRGRLM
EVNENILHKP SILQEKPSTE GYIAVVLPKF EESKSITEGL LTQKQYEEVM VKRINATTAT
S
