F181A_HUMAN
ID F181A_HUMAN Reviewed; 354 AA.
AC Q8N9Y4; B2RD39; Q96GY1;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Protein FAM181A;
GN Name=FAM181A; Synonyms=C14orf152; ORFNames=HSD-31, HSD31;
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=Testis;
RA Yang C.B., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-28.
RC TISSUE=Hippocampus, and Testis;
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=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Ovary;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9Y4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9Y4-2; Sequence=VSP_014549;
CC -!- SIMILARITY: Belongs to the FAM181 family. {ECO:0000305}.
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DR EMBL; AY255795; AAP15252.1; -; mRNA.
DR EMBL; AK093387; BAC04151.1; -; mRNA.
DR EMBL; AK315393; BAG37786.1; -; mRNA.
DR EMBL; AL132642; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009073; AAH09073.1; -; mRNA.
DR CCDS; CCDS55939.1; -. [Q8N9Y4-2]
DR CCDS; CCDS9914.1; -. [Q8N9Y4-1]
DR RefSeq; NP_001194000.1; NM_001207071.1. [Q8N9Y4-2]
DR RefSeq; NP_001194001.1; NM_001207072.1. [Q8N9Y4-2]
DR RefSeq; NP_001194002.1; NM_001207073.1. [Q8N9Y4-2]
DR RefSeq; NP_001194003.1; NM_001207074.1. [Q8N9Y4-2]
DR RefSeq; NP_612353.3; NM_138344.4. [Q8N9Y4-1]
DR PDB; 6L9F; X-ray; 2.56 A; C/D=187-206.
DR PDB; 6SEN; X-ray; 1.65 A; L/M=190-205.
DR PDBsum; 6L9F; -.
DR PDBsum; 6SEN; -.
DR AlphaFoldDB; Q8N9Y4; -.
DR SMR; Q8N9Y4; -.
DR BioGRID; 124657; 5.
DR STRING; 9606.ENSP00000267594; -.
DR iPTMnet; Q8N9Y4; -.
DR PhosphoSitePlus; Q8N9Y4; -.
DR BioMuta; FAM181A; -.
DR DMDM; 152032205; -.
DR EPD; Q8N9Y4; -.
DR jPOST; Q8N9Y4; -.
DR MassIVE; Q8N9Y4; -.
DR PaxDb; Q8N9Y4; -.
DR PeptideAtlas; Q8N9Y4; -.
DR PRIDE; Q8N9Y4; -.
DR Antibodypedia; 48; 9 antibodies from 7 providers.
DR DNASU; 90050; -.
DR Ensembl; ENST00000267594.5; ENSP00000267594.5; ENSG00000140067.7. [Q8N9Y4-1]
DR Ensembl; ENST00000556222.2; ENSP00000451678.1; ENSG00000140067.7. [Q8N9Y4-2]
DR Ensembl; ENST00000557000.2; ENSP00000451445.2; ENSG00000140067.7. [Q8N9Y4-2]
DR Ensembl; ENST00000557719.1; ENSP00000451802.1; ENSG00000140067.7. [Q8N9Y4-2]
DR Ensembl; ENST00000611800.2; ENSP00000478780.1; ENSG00000273533.3. [Q8N9Y4-2]
DR Ensembl; ENST00000617881.3; ENSP00000479410.1; ENSG00000273533.3. [Q8N9Y4-1]
DR Ensembl; ENST00000620448.3; ENSP00000478207.1; ENSG00000273533.3. [Q8N9Y4-2]
DR Ensembl; ENST00000626058.1; ENSP00000486422.1; ENSG00000273533.3. [Q8N9Y4-2]
DR GeneID; 90050; -.
DR KEGG; hsa:90050; -.
DR MANE-Select; ENST00000556222.2; ENSP00000451678.1; NM_001207073.2; NP_001194002.1. [Q8N9Y4-2]
DR UCSC; uc001ybz.3; human. [Q8N9Y4-1]
DR CTD; 90050; -.
DR DisGeNET; 90050; -.
DR GeneCards; FAM181A; -.
DR HGNC; HGNC:20491; FAM181A.
DR HPA; ENSG00000140067; Group enriched (brain, testis).
DR neXtProt; NX_Q8N9Y4; -.
DR OpenTargets; ENSG00000140067; -.
DR PharmGKB; PA162387582; -.
DR VEuPathDB; HostDB:ENSG00000140067; -.
DR eggNOG; ENOG502RZWV; Eukaryota.
DR GeneTree; ENSGT00940000154730; -.
DR HOGENOM; CLU_060757_0_0_1; -.
DR InParanoid; Q8N9Y4; -.
DR OMA; HTHVVVK; -.
DR OrthoDB; 1349932at2759; -.
DR PhylomeDB; Q8N9Y4; -.
DR TreeFam; TF333276; -.
DR PathwayCommons; Q8N9Y4; -.
DR BioGRID-ORCS; 90050; 17 hits in 1070 CRISPR screens.
DR GenomeRNAi; 90050; -.
DR Pharos; Q8N9Y4; Tdark.
DR PRO; PR:Q8N9Y4; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8N9Y4; protein.
DR Bgee; ENSG00000140067; Expressed in left testis and 60 other tissues.
DR ExpressionAtlas; Q8N9Y4; baseline and differential.
DR Genevisible; Q8N9Y4; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR InterPro; IPR029359; FAM181.
DR PANTHER; PTHR33766; PTHR33766; 1.
DR Pfam; PF15238; FAM181; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Reference proteome.
FT CHAIN 1..354
FT /note="Protein FAM181A"
FT /id="PRO_0000089951"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 117..160
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 172..193
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..28
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 129..143
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..62
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_014549"
FT VARIANT 28
FT /note="A -> T (in dbSNP:rs10141024)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022834"
FT VARIANT 162
FT /note="L -> M (in dbSNP:rs34220325)"
FT /id="VAR_057822"
FT CONFLICT 164
FT /note="N -> S (in Ref. 2; BAC04151)"
FT /evidence="ECO:0000305"
FT HELIX 192..194
FT /evidence="ECO:0007829|PDB:6SEN"
FT HELIX 199..202
FT /evidence="ECO:0007829|PDB:6SEN"
SQ SEQUENCE 354 AA; 38724 MW; D1BB76A980617249 CRC64;
MPLEERRSSG ERNDAAPTNH RRPGEKRAST AKQVSSVPFL GAAGHQQSLP SSWKASCSGP
LVMASDSDVK MLLNFVNLAS SDIKAALDKS APCRRSVDHR KYLQKQLKRF SQKYSRLPRG
LPGRAAEPYL KRGSEDRPRR LLLDLGPDSS PGGGGGCKEK VLRNPYREEC LAKEQLPQRQ
HPEAAQPGQV PMRKRQLPAS FWEEPRPTHS YHVGLEGGLG PREGPPYEGK KNCKGLEPLG
PETTLVSMSP RALAEKEPLK MPGVSLVGRV NAWSCCPFQY HGQPIYPGPL GALPQSPVPS
LGLWRKSPAF PGELAHLCKD VDGLGQKVCR PVVLKPIPTK PAVPPPIFNV FGYL
