F241B_HUMAN
ID F241B_HUMAN Reviewed; 121 AA.
AC Q96D05;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Protein FAM241B {ECO:0000305};
GN Name=FAM241B {ECO:0000312|HGNC:HGNC:23519}; Synonyms=C10orf35;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-88 (ISOFORM 2).
RC TISSUE=Testis;
RA Arakawa T., Carninci P., Fukuda S., Hasegawa A., Hayashida K., Hori F.,
RA Kai C., Kawai J., Kojima M., Murata M., Nakamura M., Nishiyori H.,
RA Nomura K., Ohno M., Sasaki D., Shibazaki E., Tagami M., Tagami Y.,
RA Hayashizaki Y.;
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-33, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP FUNCTION.
RX PubMed=31270356; DOI=10.1038/s41598-019-45939-w;
RA Lenk G.M., Park Y.N., Lemons R., Flynn E., Plank M., Frei C.M., Davis M.J.,
RA Gregorka B., Swanson J.A., Meisler M.H., Kitzman J.O.;
RT "CRISPR knockout screen implicates three genes in lysosome function.";
RL Sci. Rep. 9:9609-9609(2019).
CC -!- FUNCTION: May play a role in lysosome homeostasis.
CC {ECO:0000269|PubMed:31270356}.
CC -!- INTERACTION:
CC Q96D05; Q8N205: SYNE4; NbExp=3; IntAct=EBI-2548784, EBI-7131783;
CC Q96D05-2; Q13323: BIK; NbExp=3; IntAct=EBI-12118888, EBI-700794;
CC Q96D05-2; P62952: BLCAP; NbExp=3; IntAct=EBI-12118888, EBI-3895726;
CC Q96D05-2; Q12983: BNIP3; NbExp=3; IntAct=EBI-12118888, EBI-749464;
CC Q96D05-2; P11912: CD79A; NbExp=3; IntAct=EBI-12118888, EBI-7797864;
CC Q96D05-2; Q99675: CGRRF1; NbExp=3; IntAct=EBI-12118888, EBI-2130213;
CC Q96D05-2; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-12118888, EBI-1045797;
CC Q96D05-2; Q8NBQ5: HSD17B11; NbExp=3; IntAct=EBI-12118888, EBI-1052304;
CC Q96D05-2; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-12118888, EBI-749265;
CC Q96D05-2; Q9UJG1: MOSPD1; NbExp=3; IntAct=EBI-12118888, EBI-12245642;
CC Q96D05-2; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-12118888, EBI-7545592;
CC Q96D05-2; Q96GF1: RNF185; NbExp=3; IntAct=EBI-12118888, EBI-2340249;
CC Q96D05-2; Q99942: RNF5; NbExp=3; IntAct=EBI-12118888, EBI-348482;
CC Q96D05-2; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-12118888, EBI-17247926;
CC Q96D05-2; Q14973: SLC10A1; NbExp=3; IntAct=EBI-12118888, EBI-3923031;
CC Q96D05-2; P30825: SLC7A1; NbExp=3; IntAct=EBI-12118888, EBI-4289564;
CC Q96D05-2; Q92537: SUSD6; NbExp=3; IntAct=EBI-12118888, EBI-2866213;
CC Q96D05-2; Q8WY98: TMEM234; NbExp=3; IntAct=EBI-12118888, EBI-8642211;
CC Q96D05-2; Q9Y320: TMX2; NbExp=3; IntAct=EBI-12118888, EBI-6447886;
CC Q96D05-2; P34981: TRHR; NbExp=3; IntAct=EBI-12118888, EBI-18055230;
CC Q96D05-2; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-12118888, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q8N8J7}; Single-
CC pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96D05-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96D05-2; Sequence=VSP_042153;
CC -!- SIMILARITY: Belongs to the FAM241 family. {ECO:0000305}.
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DR EMBL; AL450311; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013587; AAH13587.1; -; mRNA.
DR EMBL; DB456046; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS7295.1; -. [Q96D05-1]
DR RefSeq; NP_660349.1; NM_145306.2. [Q96D05-1]
DR RefSeq; XP_005269663.1; XM_005269606.1. [Q96D05-2]
DR RefSeq; XP_005269665.1; XM_005269608.3. [Q96D05-1]
DR RefSeq; XP_011537757.1; XM_011539455.2. [Q96D05-1]
DR RefSeq; XP_016871325.1; XM_017015836.1. [Q96D05-1]
DR AlphaFoldDB; Q96D05; -.
DR BioGRID; 128570; 111.
DR IntAct; Q96D05; 50.
DR MINT; Q96D05; -.
DR STRING; 9606.ENSP00000362376; -.
DR GlyGen; Q96D05; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96D05; -.
DR PhosphoSitePlus; Q96D05; -.
DR BioMuta; FAM241B; -.
DR DMDM; 68565253; -.
DR EPD; Q96D05; -.
DR jPOST; Q96D05; -.
DR MassIVE; Q96D05; -.
DR MaxQB; Q96D05; -.
DR PaxDb; Q96D05; -.
DR PeptideAtlas; Q96D05; -.
DR PRIDE; Q96D05; -.
DR ProteomicsDB; 76242; -. [Q96D05-1]
DR ProteomicsDB; 76243; -. [Q96D05-2]
DR TopDownProteomics; Q96D05-1; -. [Q96D05-1]
DR TopDownProteomics; Q96D05-2; -. [Q96D05-2]
DR Antibodypedia; 48669; 10 antibodies from 8 providers.
DR DNASU; 219738; -.
DR Ensembl; ENST00000373279.6; ENSP00000362376.4; ENSG00000171224.9. [Q96D05-1]
DR GeneID; 219738; -.
DR KEGG; hsa:219738; -.
DR MANE-Select; ENST00000373279.6; ENSP00000362376.4; NM_145306.3; NP_660349.1.
DR UCSC; uc001jpq.5; human. [Q96D05-1]
DR CTD; 219738; -.
DR GeneCards; FAM241B; -.
DR HGNC; HGNC:23519; FAM241B.
DR HPA; ENSG00000171224; Tissue enhanced (brain).
DR neXtProt; NX_Q96D05; -.
DR OpenTargets; ENSG00000171224; -.
DR PharmGKB; PA134863788; -.
DR VEuPathDB; HostDB:ENSG00000171224; -.
DR eggNOG; ENOG502S2ZQ; Eukaryota.
DR GeneTree; ENSGT00940000154340; -.
DR HOGENOM; CLU_138765_1_0_1; -.
DR InParanoid; Q96D05; -.
DR OMA; RQGFLNR; -.
DR OrthoDB; 1622897at2759; -.
DR PhylomeDB; Q96D05; -.
DR TreeFam; TF335755; -.
DR PathwayCommons; Q96D05; -.
DR SignaLink; Q96D05; -.
DR BioGRID-ORCS; 219738; 9 hits in 1067 CRISPR screens.
DR ChiTaRS; C10orf35; human.
DR GenomeRNAi; 219738; -.
DR Pharos; Q96D05; Tdark.
DR PRO; PR:Q96D05; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96D05; protein.
DR Bgee; ENSG00000171224; Expressed in cerebellar hemisphere and 139 other tissues.
DR ExpressionAtlas; Q96D05; baseline and differential.
DR Genevisible; Q96D05; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR InterPro; IPR027953; DUF4605.
DR Pfam; PF15378; DUF4605; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..121
FT /note="Protein FAM241B"
FT /id="PRO_0000089790"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 12..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 33
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 62
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18691976"
FT VAR_SEQ 1
FT /note="M -> MSPVLSGIHSIYSAWVTSVNITDCKPPSISGAAHQGPTAPGRM (in
FT isoform 2)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_042153"
SQ SEQUENCE 121 AA; 13238 MW; 6326728CAB5375C4 CRC64;
MVRILANGEI VQDDDPRVRT TTQPPRGSIP RQSFFNRGHG APPGGPGPRQ QQAGARLGAA
QSPFNDLNRQ LVNMGFPQWH LGNHAVEPVT SILLLFLLMM LGVRGLLLVG LVYLVSHLSQ
R
