F104B_HUMAN
ID F104B_HUMAN Reviewed; 115 AA.
AC Q5XKR9; A6NEH1; B4DSV6; D6R9S5; D6RDJ5; E9PH40; Q8WVU5; Q9BRA1;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 1.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Protein FAM104B;
GN Name=FAM104B; Synonyms=CXorf44;
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 4).
RC TISSUE=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=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 2-115 (ISOFORM 3).
RC TISSUE=Bone marrow, Lung, and 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).
CC -!- INTERACTION:
CC Q5XKR9-2; Q92870-2: APBB2; NbExp=3; IntAct=EBI-19946114, EBI-21535880;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q5XKR9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5XKR9-2; Sequence=VSP_019078;
CC Name=3;
CC IsoId=Q5XKR9-3; Sequence=VSP_019078, VSP_019079;
CC Name=4;
CC IsoId=Q5XKR9-4; Sequence=VSP_044976, VSP_019079;
CC Name=5;
CC IsoId=Q5XKR9-5; Sequence=VSP_046645;
CC Name=6;
CC IsoId=Q5XKR9-6; Sequence=VSP_046644, VSP_019079;
CC -!- SIMILARITY: Belongs to the FAM104 family. {ECO:0000305}.
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DR EMBL; AK299935; BAG61768.1; -; mRNA.
DR EMBL; AL590240; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471154; EAW93218.1; -; Genomic_DNA.
DR EMBL; BC000919; AAH00919.2; -; mRNA.
DR EMBL; BC006406; AAH06406.2; -; mRNA.
DR EMBL; BC017571; AAH17571.1; -; mRNA.
DR CCDS; CCDS35305.2; -. [Q5XKR9-1]
DR CCDS; CCDS55422.1; -. [Q5XKR9-6]
DR CCDS; CCDS55423.1; -. [Q5XKR9-4]
DR CCDS; CCDS55424.1; -. [Q5XKR9-5]
DR CCDS; CCDS55425.1; -. [Q5XKR9-3]
DR CCDS; CCDS55426.1; -. [Q5XKR9-2]
DR RefSeq; NP_001160171.1; NM_001166699.1. [Q5XKR9-2]
DR RefSeq; NP_001160172.1; NM_001166700.1. [Q5XKR9-3]
DR RefSeq; NP_001160174.1; NM_001166702.1. [Q5XKR9-4]
DR RefSeq; NP_001160175.1; NM_001166703.1. [Q5XKR9-6]
DR RefSeq; NP_001160176.1; NM_001166704.1. [Q5XKR9-5]
DR RefSeq; NP_612371.2; NM_138362.3. [Q5XKR9-1]
DR AlphaFoldDB; Q5XKR9; -.
DR BioGRID; 124757; 2.
DR IntAct; Q5XKR9; 1.
DR STRING; 9606.ENSP00000397188; -.
DR BioMuta; FAM104B; -.
DR MassIVE; Q5XKR9; -.
DR PaxDb; Q5XKR9; -.
DR PeptideAtlas; Q5XKR9; -.
DR PRIDE; Q5XKR9; -.
DR ProteomicsDB; 13103; -.
DR ProteomicsDB; 20452; -.
DR ProteomicsDB; 65834; -. [Q5XKR9-1]
DR ProteomicsDB; 65835; -. [Q5XKR9-2]
DR ProteomicsDB; 65836; -. [Q5XKR9-3]
DR Antibodypedia; 55355; 68 antibodies from 10 providers.
DR DNASU; 90736; -.
DR Ensembl; ENST00000332132.8; ENSP00000333394.4; ENSG00000182518.14. [Q5XKR9-2]
DR Ensembl; ENST00000358460.8; ENSP00000364101.3; ENSG00000182518.14. [Q5XKR9-1]
DR Ensembl; ENST00000425133.2; ENSP00000397188.2; ENSG00000182518.14. [Q5XKR9-3]
DR Ensembl; ENST00000472571.2; ENSP00000420895.1; ENSG00000182518.14. [Q5XKR9-5]
DR Ensembl; ENST00000477847.6; ENSP00000421161.1; ENSG00000182518.14. [Q5XKR9-4]
DR Ensembl; ENST00000489298.1; ENSP00000423164.1; ENSG00000182518.14. [Q5XKR9-6]
DR GeneID; 90736; -.
DR KEGG; hsa:90736; -.
DR UCSC; uc004dug.2; human. [Q5XKR9-1]
DR CTD; 90736; -.
DR GeneCards; FAM104B; -.
DR HGNC; HGNC:25085; FAM104B.
DR HPA; ENSG00000182518; Low tissue specificity.
DR neXtProt; NX_Q5XKR9; -.
DR OpenTargets; ENSG00000182518; -.
DR PharmGKB; PA134945008; -.
DR VEuPathDB; HostDB:ENSG00000182518; -.
DR GeneTree; ENSGT00390000001055; -.
DR HOGENOM; CLU_3191120_0_0_1; -.
DR InParanoid; Q5XKR9; -.
DR OMA; EYSHEEY; -.
DR OrthoDB; 1629457at2759; -.
DR PhylomeDB; Q5XKR9; -.
DR PathwayCommons; Q5XKR9; -.
DR SignaLink; Q5XKR9; -.
DR BioGRID-ORCS; 90736; 77 hits in 708 CRISPR screens.
DR ChiTaRS; FAM104B; human.
DR GenomeRNAi; 90736; -.
DR Pharos; Q5XKR9; Tdark.
DR PRO; PR:Q5XKR9; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5XKR9; protein.
DR Bgee; ENSG00000182518; Expressed in right uterine tube and 152 other tissues.
DR Genevisible; Q5XKR9; HS.
DR InterPro; IPR029222; FAM104.
DR PANTHER; PTHR34763; PTHR34763; 1.
DR Pfam; PF15434; FAM104; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..115
FT /note="Protein FAM104B"
FT /id="PRO_0000239034"
FT REGION 1..70
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 27..56
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..7
FT /note="MGGCPVR -> MLVLWL (in isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_046644"
FT VAR_SEQ 1..6
FT /note="MGGCPV -> MTC (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044976"
FT VAR_SEQ 40
FT /note="E -> EV (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019078"
FT VAR_SEQ 41..115
FT /note="FSWSDNERSSSRINIPERASGPEGNLNQIVTEPDANFPQFLHEGLSKPVYVI
FT NWFMSFGPEIKLNTSQQGRNQAV -> VAIFME (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_046645"
FT VAR_SEQ 85..115
FT /note="LSKPVYVINWFMSFGPEIKLNTSQQGRNQAV -> YVPCQGLYSHINQTLKE
FT AHFNSLQQRGQAPT (in isoform 3, isoform 4 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_019079"
FT VARIANT 60
FT /note="S -> G (in dbSNP:rs1047037)"
FT /id="VAR_055796"
FT CONFLICT 74
FT /note="D -> V (in Ref. 1; BAG61768)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 115 AA; 13109 MW; 44F92B3FDDC77CDB CRC64;
MGGCPVRKRR RNGSKEGNHH STQPKRNKRN PIFQDSQDTE FSWSDNERSS SRINIPERAS
GPEGNLNQIV TEPDANFPQF LHEGLSKPVY VINWFMSFGP EIKLNTSQQG RNQAV
