F124A_HUMAN
ID F124A_HUMAN Reviewed; 546 AA.
AC Q86V42; A2A324; Q8N8P9; Q8NE66; Q96NJ9;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Protein FAM124A;
GN Name=FAM124A;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Fetal brain, and Teratocarcinoma;
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=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Ovary, and Testis;
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).
CC -!- INTERACTION:
CC Q86V42; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-744506, EBI-739624;
CC Q86V42; Q9UFW8: CGGBP1; NbExp=3; IntAct=EBI-744506, EBI-723153;
CC Q86V42; Q8NF50-2: DOCK8; NbExp=3; IntAct=EBI-744506, EBI-10174653;
CC Q86V42; O15409: FOXP2; NbExp=3; IntAct=EBI-744506, EBI-983612;
CC Q86V42; Q8IYA8: IHO1; NbExp=3; IntAct=EBI-744506, EBI-8638439;
CC Q86V42; Q14005-2: IL16; NbExp=7; IntAct=EBI-744506, EBI-17178971;
CC Q86V42; Q8NBZ0: INO80E; NbExp=3; IntAct=EBI-744506, EBI-769401;
CC Q86V42; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-744506, EBI-2125614;
CC Q86V42; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-744506, EBI-739832;
CC Q86V42; O43639: NCK2; NbExp=3; IntAct=EBI-744506, EBI-713635;
CC Q86V42; Q8IXK0: PHC2; NbExp=3; IntAct=EBI-744506, EBI-713786;
CC Q86V42; Q13976: PRKG1; NbExp=4; IntAct=EBI-744506, EBI-3952014;
CC Q86V42; Q96QF0: RAB3IP; NbExp=3; IntAct=EBI-744506, EBI-747844;
CC Q86V42; Q13464: ROCK1; NbExp=3; IntAct=EBI-744506, EBI-876651;
CC Q86V42; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-744506, EBI-3957636;
CC Q86V42; Q96MF2: STAC3; NbExp=3; IntAct=EBI-744506, EBI-745680;
CC Q86V42; Q9NVV9: THAP1; NbExp=3; IntAct=EBI-744506, EBI-741515;
CC Q86V42; Q08117: TLE5; NbExp=3; IntAct=EBI-744506, EBI-717810;
CC Q86V42; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-744506, EBI-725997;
CC Q86V42; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-744506, EBI-2130429;
CC Q86V42; Q8NCP5: ZBTB44; NbExp=3; IntAct=EBI-744506, EBI-5658292;
CC Q86V42; Q9NTW7: ZFP64; NbExp=6; IntAct=EBI-744506, EBI-711679;
CC Q86V42; Q53Z40: ZNF165; NbExp=3; IntAct=EBI-744506, EBI-10186058;
CC Q86V42; P15622-3: ZNF250; NbExp=3; IntAct=EBI-744506, EBI-10177272;
CC Q86V42; Q8IYH5: ZZZ3; NbExp=3; IntAct=EBI-744506, EBI-2795524;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q86V42-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86V42-2; Sequence=VSP_025039;
CC Name=3;
CC IsoId=Q86V42-3; Sequence=VSP_025040, VSP_025041;
CC -!- SIMILARITY: Belongs to the FAM124 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34497.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK055269; BAB70894.1; -; mRNA.
DR EMBL; AK096364; BAC04769.1; -; mRNA.
DR EMBL; AL157817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC034497; AAH34497.1; ALT_FRAME; mRNA.
DR EMBL; BC051771; AAH51771.1; -; mRNA.
DR CCDS; CCDS55900.1; -. [Q86V42-1]
DR CCDS; CCDS81767.1; -. [Q86V42-3]
DR CCDS; CCDS9427.1; -. [Q86V42-2]
DR RefSeq; NP_001229241.1; NM_001242312.1. [Q86V42-1]
DR RefSeq; NP_001317451.1; NM_001330522.1. [Q86V42-3]
DR RefSeq; NP_659456.3; NM_145019.3. [Q86V42-2]
DR AlphaFoldDB; Q86V42; -.
DR BioGRID; 128629; 53.
DR IntAct; Q86V42; 33.
DR MINT; Q86V42; -.
DR STRING; 9606.ENSP00000280057; -.
DR GlyGen; Q86V42; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q86V42; -.
DR PhosphoSitePlus; Q86V42; -.
DR BioMuta; FAM124A; -.
DR DMDM; 74750447; -.
DR EPD; Q86V42; -.
DR jPOST; Q86V42; -.
DR MassIVE; Q86V42; -.
DR PeptideAtlas; Q86V42; -.
DR PRIDE; Q86V42; -.
DR ProteomicsDB; 69963; -. [Q86V42-1]
DR ProteomicsDB; 69964; -. [Q86V42-2]
DR ProteomicsDB; 69965; -. [Q86V42-3]
DR TopDownProteomics; Q86V42-2; -. [Q86V42-2]
DR Antibodypedia; 24063; 82 antibodies from 16 providers.
DR DNASU; 220108; -.
DR Ensembl; ENST00000280057.6; ENSP00000280057.6; ENSG00000150510.17. [Q86V42-2]
DR Ensembl; ENST00000322475.13; ENSP00000324625.8; ENSG00000150510.17. [Q86V42-1]
DR Ensembl; ENST00000615498.4; ENSP00000481212.1; ENSG00000150510.17. [Q86V42-3]
DR GeneID; 220108; -.
DR KEGG; hsa:220108; -.
DR MANE-Select; ENST00000322475.13; ENSP00000324625.8; NM_001242312.2; NP_001229241.1.
DR UCSC; uc001vfe.4; human. [Q86V42-1]
DR CTD; 220108; -.
DR GeneCards; FAM124A; -.
DR HGNC; HGNC:26413; FAM124A.
DR HPA; ENSG00000150510; Group enriched (brain, choroid plexus, retina).
DR neXtProt; NX_Q86V42; -.
DR OpenTargets; ENSG00000150510; -.
DR PharmGKB; PA162385800; -.
DR VEuPathDB; HostDB:ENSG00000150510; -.
DR eggNOG; ENOG502QUA8; Eukaryota.
DR GeneTree; ENSGT00590000083134; -.
DR HOGENOM; CLU_037215_0_0_1; -.
DR InParanoid; Q86V42; -.
DR OMA; YKSATLG; -.
DR OrthoDB; 626528at2759; -.
DR PhylomeDB; Q86V42; -.
DR TreeFam; TF328699; -.
DR PathwayCommons; Q86V42; -.
DR SignaLink; Q86V42; -.
DR BioGRID-ORCS; 220108; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; FAM124A; human.
DR GenomeRNAi; 220108; -.
DR Pharos; Q86V42; Tdark.
DR PRO; PR:Q86V42; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q86V42; protein.
DR Bgee; ENSG00000150510; Expressed in inferior vagus X ganglion and 152 other tissues.
DR Genevisible; Q86V42; HS.
DR InterPro; IPR029380; FAM124.
DR InterPro; IPR046365; FAM124_dom.
DR PANTHER; PTHR14715; PTHR14715; 1.
DR Pfam; PF15067; FAM124; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..546
FT /note="Protein FAM124A"
FT /id="PRO_0000286380"
FT REGION 1..37
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 286..360
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..546
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 23..37
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 302..327
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 343..360
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 488..517
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 34
FT /note="S -> NGFSTWRMPCCLFLYCTHGDKEKGRWSLQVEHTWPSG (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025039"
FT VAR_SEQ 279..301
FT /note="AQRVHKKFPKPGRVHHASEKKRH -> VLGGRLSVCLGDLRNQLALPQTL
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025040"
FT VAR_SEQ 302..546
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025041"
FT VARIANT 181
FT /note="D -> H (in dbSNP:rs17075482)"
FT /id="VAR_032098"
FT CONFLICT 197
FT /note="S -> N (in Ref. 1; BAC04769)"
FT /evidence="ECO:0000305"
FT CONFLICT 272
FT /note="G -> R (in Ref. 1; BAB70894)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 546 AA; 60104 MW; 235FB80A4DF15FFC CRC64;
MDPKAGGGGE EDDCVDSGAE TGGSDYSHLS STSSELSVEE AQDPFLVSIH IIADPGESQP
LQEAIDNVLA WIHPDLPLFR VSERRASRRR RKPPKGAQPA LAVVLFLQEE YGEEQILQLH
RTLQQPPWRH HHTEQVHGRF LPYLPCSQDF FTLAPGTPLW AIRPVHYGKE IVRFTVYCRY
DNYADSLRFY QLILRRSPSQ KKADFCIFPI FSNLDVDIQF SLKRLPCDQC PVPTDSSVLE
FRVRDIGELV PLLPNPCSPI SEGRWQTEDH DGNKILLQAQ RVHKKFPKPG RVHHASEKKR
HSTPLPSTAV PSHTPGSSQQ SPLNSPHPGP IRTGLPPGHQ QEFAGRANST PNPPWSFQRS
KSLFCLPTGG PSLASSAEPQ WFSNTGAPGH RASEWRHGHL LSIDDLEGAQ ETDVDTGLRL
SSSDLSVVSA YSAPSRFCST VETPLPSERC SSHWAAHKDS REGPLPTVSR VTTEASWASL
PFFTKRSSSS SATARAAPPA PSTSTLTDSS PQLPCDTPKV KQTDGDMPPP PGSAGPGDND
MEEFYI
