F171B_HUMAN
ID F171B_HUMAN Reviewed; 826 AA.
AC Q6P995; Q53SK3; Q8N1Y4; Q8N3K1; Q8N970; Q8NB81; Q8TF55; Q8WYR8;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Protein FAM171B;
DE Flags: Precursor;
GN Name=FAM171B; Synonyms=KIAA1946; ORFNames=NPD019;
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), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 203-826 (ISOFORM 1).
RC TISSUE=Amygdala, and Brain;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ILE-302.
RC TISSUE=Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-281.
RC TISSUE=Pituitary;
RA Liu F., Xu X.R., Qian B.Z., Xiao H., Chen Z., Han Z.;
RT "A novel gene expressed in human normal pituitary.";
RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 148-826 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII. The
RT complete sequences of 50 new cDNA clones which code for large proteins.";
RL DNA Res. 8:319-327(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 497-826 (ISOFORM 1).
RC TISSUE=Amygdala;
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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6P995-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P995-2; Sequence=VSP_040122, VSP_040123;
CC -!- SIMILARITY: Belongs to the FAM171 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL57220.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC04380.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04586.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK091423; BAC03660.1; -; mRNA.
DR EMBL; AK094578; BAC04380.1; ALT_INIT; mRNA.
DR EMBL; AK095604; BAC04586.1; ALT_INIT; mRNA.
DR EMBL; AC017101; AAY24258.1; -; Genomic_DNA.
DR EMBL; BC060872; AAH60872.1; -; mRNA.
DR EMBL; AF361495; AAL57220.1; ALT_FRAME; mRNA.
DR EMBL; AB075826; BAB85532.1; -; mRNA.
DR EMBL; AL834264; CAD38939.1; -; mRNA.
DR CCDS; CCDS33347.1; -. [Q6P995-1]
DR RefSeq; NP_803237.3; NM_177454.3. [Q6P995-1]
DR AlphaFoldDB; Q6P995; -.
DR BioGRID; 127911; 47.
DR IntAct; Q6P995; 15.
DR MINT; Q6P995; -.
DR STRING; 9606.ENSP00000304108; -.
DR GlyGen; Q6P995; 4 sites.
DR iPTMnet; Q6P995; -.
DR PhosphoSitePlus; Q6P995; -.
DR BioMuta; FAM171B; -.
DR DMDM; 313104238; -.
DR EPD; Q6P995; -.
DR jPOST; Q6P995; -.
DR MassIVE; Q6P995; -.
DR PaxDb; Q6P995; -.
DR PeptideAtlas; Q6P995; -.
DR PRIDE; Q6P995; -.
DR ProteomicsDB; 67026; -. [Q6P995-1]
DR ProteomicsDB; 67027; -. [Q6P995-2]
DR Antibodypedia; 2501; 53 antibodies from 11 providers.
DR DNASU; 165215; -.
DR Ensembl; ENST00000304698.10; ENSP00000304108.5; ENSG00000144369.14. [Q6P995-1]
DR GeneID; 165215; -.
DR KEGG; hsa:165215; -.
DR MANE-Select; ENST00000304698.10; ENSP00000304108.5; NM_177454.4; NP_803237.3.
DR UCSC; uc002upt.4; human. [Q6P995-1]
DR CTD; 165215; -.
DR DisGeNET; 165215; -.
DR GeneCards; FAM171B; -.
DR HGNC; HGNC:29412; FAM171B.
DR HPA; ENSG00000144369; Tissue enhanced (brain).
DR neXtProt; NX_Q6P995; -.
DR OpenTargets; ENSG00000144369; -.
DR PharmGKB; PA162387220; -.
DR VEuPathDB; HostDB:ENSG00000144369; -.
DR eggNOG; ENOG502QRHY; Eukaryota.
DR GeneTree; ENSGT00950000183184; -.
DR HOGENOM; CLU_019729_0_1_1; -.
DR InParanoid; Q6P995; -.
DR OMA; WIAAPHP; -.
DR OrthoDB; 406002at2759; -.
DR PhylomeDB; Q6P995; -.
DR TreeFam; TF331338; -.
DR PathwayCommons; Q6P995; -.
DR SignaLink; Q6P995; -.
DR BioGRID-ORCS; 165215; 20 hits in 1076 CRISPR screens.
DR ChiTaRS; FAM171B; human.
DR GenomeRNAi; 165215; -.
DR Pharos; Q6P995; Tdark.
DR PRO; PR:Q6P995; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6P995; protein.
DR Bgee; ENSG00000144369; Expressed in entorhinal cortex and 167 other tissues.
DR ExpressionAtlas; Q6P995; baseline and differential.
DR Genevisible; Q6P995; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR018890; FAM171.
DR PANTHER; PTHR31626; PTHR31626; 1.
DR Pfam; PF10577; UPF0560; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..32
FT /evidence="ECO:0000255"
FT CHAIN 33..826
FT /note="Protein FAM171B"
FT /id="PRO_0000287148"
FT TOPO_DOM 33..353
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 354..374
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 375..826
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 52..71
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 429..448
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 474..493
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 774..826
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 801..826
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 794
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q14CH0"
FT CARBOHYD 108
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 113
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 213
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 268
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 413..427
FT /note="STVKVALKAEDKSQL -> RNRRKSFHGKNSGRF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040122"
FT VAR_SEQ 428..826
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040123"
FT VARIANT 302
FT /note="V -> I (in dbSNP:rs17855085)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032269"
FT CONFLICT 42
FT /note="I -> IQ (in Ref. 1; BAC03660)"
FT /evidence="ECO:0000305"
FT CONFLICT 42
FT /note="I -> IQQ (in Ref. 3; AAH60872 and 4; AAL57220)"
FT /evidence="ECO:0000305"
FT CONFLICT 266
FT /note="K -> R (in Ref. 4; AAL57220)"
FT /evidence="ECO:0000305"
FT CONFLICT 689
FT /note="F -> Y (in Ref. 1; BAC04380)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 826 AA; 92181 MW; D79BF75EEFDAE9DE CRC64;
MARLCRRVPC TLLLGLAVVL LKARLVPAAA RAELSRSDLS LIQQQQQQQQ QQQQQQKQLE
EAEEERTEVP GATSTLTVPV SVFMLKVQVN DIISRQYLSQ AVVEVFVNYT KTNSTVTKSN
GAVLIKVPYK LGLSLTIIAY KDGYVLTPLP WKTRRMPIYS SVTLSLFPQS QANIWLFEDT
VLITGKLADA KSQPSVQFSK ALIKLPDNHH ISNVTGYLTV LQQFLKVDNF LHTTGITLNK
PGFENIELTP LAAICVKIYS GGKELKVNGS IQVSLPLLRL NDISAGDRIP AWTFDMNTGA
WVNHGRGMVK EHNNHLIWTY DAPHLGYWIA APLPGTRGSG INEDSKDITA YHTVFLTAIL
GGTIVIVIGF FAVLLCYCRD KCGTPQKRER NITKLEVLKR DQTTSTTHIN HISTVKVALK
AEDKSQLFNA KNSSYSPQKK EPSKAETEER VSMVKTRDDF KIYNEDVSFL SVNQNNYSRN
PTQSLEPNVG SKQPKHINNN LSSSLGDAQD EKRYLTGNEE AYGRSHIPEQ LMHIYSQPIA
ILQTSDLFST PEQLHTAKSA TLPRKGQLVY GQLMEPVNRE NFTQTLPKMP IHSHAQPPDA
REEDIILEGQ QSLPSQASDW SRYSSSLLES VSVPGTLNEA VVMTPFSSEL QGISEQTLLE
LSKGKPSPHP RAWFVSLDGK PVAQVRHSFI DLKKGKRTQS NDTSLDSGVD MNELHSSRKL
EREKTFIKSM HQPKILYLED LDLSSSESGT TVCSPEDPAL RHILDGGSGV IMEHPGEESP
GRKSTVEDFE ANTSPTKRRG RPPLAKRDSK TNIWKKREER PLIPIN
