F172A_HUMAN
ID F172A_HUMAN Reviewed; 416 AA.
AC Q8WUF8; B2R7C6; B4DJ14; B4DLG5; Q9H0U8;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Cotranscriptional regulator FAM172A {ECO:0000250|UniProtKB:Q3TNH5};
DE AltName: Full=Protein FAM172A;
DE Flags: Precursor;
GN Name=FAM172A; Synonyms=C5orf21;
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=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Hippocampus, Placenta, and Tongue;
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=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Duodenum;
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 [6]
RP VARIANTS GLN-228 AND 307-GLU--LEU-416 DEL.
RX PubMed=29311329; DOI=10.1073/pnas.1715378115;
RA Belanger C., Berube-Simard F.A., Leduc E., Bernas G., Campeau P.M.,
RA Lalani S.R., Martin D.M., Bielas S., Moccia A., Srivastava A.,
RA Silversides D.W., Pilon N.;
RT "Dysregulation of cotranscriptional alternative splicing underlies CHARGE
RT syndrome.";
RL Proc. Natl. Acad. Sci. U.S.A. 115:E620-E629(2018).
CC -!- FUNCTION: Plays a role in the regulation of alternative splicing, by
CC interacting with AGO2 and CHD7. Seems to be required for stabilizing
CC protein-protein interactions at the chromatin-spliceosome interface.
CC May have hydrolase activity. {ECO:0000250|UniProtKB:Q3TNH5}.
CC -!- SUBUNIT: Interacts with AGO2. Found in a complex, composed of AGO2,
CC CHD7 and FAM172A. {ECO:0000250|UniProtKB:Q3TNH5}.
CC -!- INTERACTION:
CC Q8WUF8; Q14696: MESD; NbExp=3; IntAct=EBI-2556079, EBI-6165891;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q3TNH5}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q3TNH5}. Endoplasmic reticulum
CC {ECO:0000250|UniProtKB:Q3TNH5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q8WUF8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WUF8-2; Sequence=VSP_031749;
CC Name=3;
CC IsoId=Q8WUF8-3; Sequence=VSP_043313;
CC Name=4;
CC IsoId=Q8WUF8-4; Sequence=VSP_043313, VSP_043314;
CC -!- SIMILARITY: Belongs to the FAM172 family. {ECO:0000305}.
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DR EMBL; AL136630; CAB66565.1; -; mRNA.
DR EMBL; AK295879; BAG58676.1; -; mRNA.
DR EMBL; AK296986; BAG59527.1; -; mRNA.
DR EMBL; AK312930; BAG35773.1; -; mRNA.
DR EMBL; AC093268; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC099501; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC106818; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC108102; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC114980; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117528; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471084; EAW96012.1; -; Genomic_DNA.
DR EMBL; BC020584; AAH20584.1; -; mRNA.
DR CCDS; CCDS4069.1; -. [Q8WUF8-1]
DR CCDS; CCDS54879.1; -. [Q8WUF8-4]
DR CCDS; CCDS54880.1; -. [Q8WUF8-3]
DR RefSeq; NP_001156889.1; NM_001163417.1. [Q8WUF8-3]
DR RefSeq; NP_001156890.1; NM_001163418.1. [Q8WUF8-4]
DR RefSeq; NP_114431.2; NM_032042.5. [Q8WUF8-1]
DR RefSeq; XP_006714780.1; XM_006714717.3. [Q8WUF8-1]
DR RefSeq; XP_011541974.1; XM_011543672.2. [Q8WUF8-3]
DR RefSeq; XP_016865444.1; XM_017009955.1. [Q8WUF8-3]
DR RefSeq; XP_016865445.1; XM_017009956.1. [Q8WUF8-3]
DR AlphaFoldDB; Q8WUF8; -.
DR SMR; Q8WUF8; -.
DR BioGRID; 123840; 26.
DR IntAct; Q8WUF8; 11.
DR MINT; Q8WUF8; -.
DR STRING; 9606.ENSP00000379294; -.
DR ESTHER; human-f172a; Arb2_FAM172A.
DR iPTMnet; Q8WUF8; -.
DR PhosphoSitePlus; Q8WUF8; -.
DR BioMuta; FAM172A; -.
DR DMDM; 74730707; -.
DR EPD; Q8WUF8; -.
DR jPOST; Q8WUF8; -.
DR MassIVE; Q8WUF8; -.
DR MaxQB; Q8WUF8; -.
DR PaxDb; Q8WUF8; -.
DR PeptideAtlas; Q8WUF8; -.
DR PRIDE; Q8WUF8; -.
DR ProteomicsDB; 74667; -. [Q8WUF8-1]
DR ProteomicsDB; 74668; -. [Q8WUF8-2]
DR ProteomicsDB; 74669; -. [Q8WUF8-3]
DR ProteomicsDB; 74670; -. [Q8WUF8-4]
DR Antibodypedia; 2355; 50 antibodies from 15 providers.
DR DNASU; 83989; -.
DR Ensembl; ENST00000395965.8; ENSP00000379294.3; ENSG00000113391.19. [Q8WUF8-1]
DR Ensembl; ENST00000505869.5; ENSP00000426284.1; ENSG00000113391.19. [Q8WUF8-4]
DR Ensembl; ENST00000509163.5; ENSP00000423841.1; ENSG00000113391.19. [Q8WUF8-3]
DR GeneID; 83989; -.
DR KEGG; hsa:83989; -.
DR MANE-Select; ENST00000395965.8; ENSP00000379294.3; NM_032042.6; NP_114431.2.
DR UCSC; uc010jbd.4; human. [Q8WUF8-1]
DR CTD; 83989; -.
DR DisGeNET; 83989; -.
DR GeneCards; FAM172A; -.
DR HGNC; HGNC:25365; FAM172A.
DR HPA; ENSG00000113391; Low tissue specificity.
DR neXtProt; NX_Q8WUF8; -.
DR OpenTargets; ENSG00000113391; -.
DR PharmGKB; PA162387241; -.
DR VEuPathDB; HostDB:ENSG00000113391; -.
DR eggNOG; KOG3967; Eukaryota.
DR GeneTree; ENSGT00530000063907; -.
DR HOGENOM; CLU_048484_2_0_1; -.
DR InParanoid; Q8WUF8; -.
DR OMA; CNWVSST; -.
DR PhylomeDB; Q8WUF8; -.
DR TreeFam; TF315960; -.
DR PathwayCommons; Q8WUF8; -.
DR SignaLink; Q8WUF8; -.
DR BioGRID-ORCS; 83989; 11 hits in 1077 CRISPR screens.
DR ChiTaRS; FAM172A; human.
DR GeneWiki; C5orf21; -.
DR GenomeRNAi; 83989; -.
DR Pharos; Q8WUF8; Tbio.
DR PRO; PR:Q8WUF8; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8WUF8; protein.
DR Bgee; ENSG00000113391; Expressed in calcaneal tendon and 195 other tissues.
DR ExpressionAtlas; Q8WUF8; baseline and differential.
DR Genevisible; Q8WUF8; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0031048; P:heterochromatin assembly by small RNA; IBA:GO_Central.
DR GO; GO:0006397; P:mRNA processing; IEA:UniProtKB-KW.
DR GO; GO:0014032; P:neural crest cell development; ISS:UniProtKB.
DR GO; GO:0000381; P:regulation of alternative mRNA splicing, via spliceosome; ISS:UniProtKB.
DR GO; GO:0008380; P:RNA splicing; IEA:UniProtKB-KW.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR039929; FAM172A.
DR PANTHER; PTHR21357:SF3; PTHR21357:SF3; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
DR PROSITE; PS00014; ER_TARGET; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Endoplasmic reticulum; mRNA processing;
KW mRNA splicing; Nucleus; Reference proteome; Signal.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..416
FT /note="Cotranscriptional regulator FAM172A"
FT /id="PRO_0000320931"
FT REGION 208..247
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 413..416
FT /note="Prevents secretion from ER"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU10138"
FT ACT_SITE 293
FT /note="Nucleophile"
FT /evidence="ECO:0000250|UniProtKB:Q3TNH5"
FT VAR_SEQ 1..46
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043313"
FT VAR_SEQ 126..189
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043314"
FT VAR_SEQ 263..416
FT /note="ENGSPEEHAIYVWDHFIAQAAAENVFFVAHSYGGLAFVELMIQREADVKNKV
FT TAVALTDSVHNVWHQEAGKTIREWMRENCCNWVSSSEPLDTSVESMLPDCPRVSAGTDR
FT HELTSWKSFPSIFKFFTEASEAKTSSLKPAVTRRSHRIKHEEL -> VSEITTFLYYFL
FT YLVYILLYVDCFVFLQEY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_031749"
FT VARIANT 131
FT /note="S -> N (in dbSNP:rs17083426)"
FT /id="VAR_039312"
FT VARIANT 228
FT /note="E -> Q (found in patients with CHARGES; unknown
FT pathological significance; dbSNP:rs767629211)"
FT /evidence="ECO:0000269|PubMed:29311329"
FT /id="VAR_080593"
FT VARIANT 307..416
FT /note="Missing (found in a patient with CHARGES; unknown
FT pathological significance)"
FT /evidence="ECO:0000269|PubMed:29311329"
FT /id="VAR_080594"
FT CONFLICT 236
FT /note="E -> V (in Ref. 1; CAB66565)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 416 AA; 47972 MW; 37D05325D12FE7ED CRC64;
MSISLSSLIL LPIWINMAQI QQGGPDEKEK TTALKDLLSR IDLDELMKKD EPPLDFPDTL
EGFEYAFNEK GQLRHIKTGE PFVFNYREDL HRWNQKRYEA LGEIITKYVY ELLEKDCNLK
KVSIPVDATE SEPKSFIFMS EDALTNPQKL MVLIHGSGVV RAGQWARRLI INEDLDSGTQ
IPFIKRAVAE GYGVIVLNPN ENYIEVEKPK IHVQSSSDSS DEPAEKRERK DKVSKETKKR
RDFYEKYRNP QREKEMMQLY IRENGSPEEH AIYVWDHFIA QAAAENVFFV AHSYGGLAFV
ELMIQREADV KNKVTAVALT DSVHNVWHQE AGKTIREWMR ENCCNWVSSS EPLDTSVESM
LPDCPRVSAG TDRHELTSWK SFPSIFKFFT EASEAKTSSL KPAVTRRSHR IKHEEL
