F135B_HUMAN
ID F135B_HUMAN Reviewed; 1406 AA.
AC Q49AJ0; B5MDB3; O95879; Q2WGJ7; Q3KP46;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Protein FAM135B;
GN Name=FAM135B; Synonyms=C8orfK32;
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 [MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RA Shimizu N., Asakawa S., Shimizu A., Yamazaki S., Ishikawa S.K.;
RT "Novel gene on human chromosome 8.";
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 756-1406 (ISOFORM 4), AND VARIANT VAL-477.
RC TISSUE=Testis;
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 691-1406 (ISOFORM 3).
RC TISSUE=Brain;
RA Mei G., Yu W., Gibbs R.A.;
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 801-1406 (ISOFORM 3).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q49AJ0-4; P46379-2: BAG6; NbExp=3; IntAct=EBI-25835236, EBI-10988864;
CC Q49AJ0-4; P55212: CASP6; NbExp=3; IntAct=EBI-25835236, EBI-718729;
CC Q49AJ0-4; O14645: DNALI1; NbExp=3; IntAct=EBI-25835236, EBI-395638;
CC Q49AJ0-4; P04792: HSPB1; NbExp=3; IntAct=EBI-25835236, EBI-352682;
CC Q49AJ0-4; Q9UMF0: ICAM5; NbExp=3; IntAct=EBI-25835236, EBI-6398041;
CC Q49AJ0-4; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25835236, EBI-10975473;
CC Q49AJ0-4; O14901: KLF11; NbExp=3; IntAct=EBI-25835236, EBI-948266;
CC Q49AJ0-4; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25835236, EBI-21591415;
CC Q49AJ0-4; P27361: MAPK3; NbExp=3; IntAct=EBI-25835236, EBI-73995;
CC Q49AJ0-4; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-25835236, EBI-6190702;
CC Q49AJ0-4; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-25835236, EBI-5280197;
CC Q49AJ0-4; P62826: RAN; NbExp=3; IntAct=EBI-25835236, EBI-286642;
CC Q49AJ0-4; P02766: TTR; NbExp=3; IntAct=EBI-25835236, EBI-711909;
CC Q49AJ0-4; O76024: WFS1; NbExp=3; IntAct=EBI-25835236, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q49AJ0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q49AJ0-2; Sequence=VSP_030232;
CC Name=3;
CC IsoId=Q49AJ0-3; Sequence=VSP_030233, VSP_030234;
CC Name=4;
CC IsoId=Q49AJ0-4; Sequence=VSP_030235, VSP_030236;
CC -!- SIMILARITY: Belongs to the FAM135 family. {ECO:0000305}.
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DR EMBL; AB196635; BAE53437.1; -; mRNA.
DR EMBL; AC068467; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087711; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC103777; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037288; AAH37288.1; -; mRNA.
DR EMBL; BC106912; AAI06913.2; -; mRNA.
DR EMBL; BC106913; AAI06914.2; -; mRNA.
DR EMBL; AF131744; AAD20030.1; -; mRNA.
DR EMBL; CR457147; CAG33428.1; -; mRNA.
DR CCDS; CCDS6375.2; -. [Q49AJ0-1]
DR RefSeq; NP_056996.2; NM_015912.3. [Q49AJ0-1]
DR RefSeq; XP_011515366.1; XM_011517064.2. [Q49AJ0-1]
DR RefSeq; XP_011515370.1; XM_011517068.2. [Q49AJ0-2]
DR RefSeq; XP_016868959.1; XM_017013470.1.
DR AlphaFoldDB; Q49AJ0; -.
DR BioGRID; 119251; 6.
DR IntAct; Q49AJ0; 16.
DR STRING; 9606.ENSP00000378710; -.
DR ESTHER; human-FAM135B; Duf_676.
DR iPTMnet; Q49AJ0; -.
DR PhosphoSitePlus; Q49AJ0; -.
DR BioMuta; FAM135B; -.
DR DMDM; 166233528; -.
DR MassIVE; Q49AJ0; -.
DR PaxDb; Q49AJ0; -.
DR PeptideAtlas; Q49AJ0; -.
DR PRIDE; Q49AJ0; -.
DR ProteomicsDB; 62048; -. [Q49AJ0-1]
DR ProteomicsDB; 62049; -. [Q49AJ0-2]
DR ProteomicsDB; 62050; -. [Q49AJ0-3]
DR ProteomicsDB; 62051; -. [Q49AJ0-4]
DR Antibodypedia; 14311; 117 antibodies from 18 providers.
DR DNASU; 51059; -.
DR Ensembl; ENST00000276737.10; ENSP00000276737.6; ENSG00000147724.12. [Q49AJ0-3]
DR Ensembl; ENST00000395297.6; ENSP00000378710.1; ENSG00000147724.12. [Q49AJ0-1]
DR GeneID; 51059; -.
DR KEGG; hsa:51059; -.
DR MANE-Select; ENST00000395297.6; ENSP00000378710.1; NM_015912.4; NP_056996.2.
DR UCSC; uc003yuy.3; human. [Q49AJ0-1]
DR CTD; 51059; -.
DR DisGeNET; 51059; -.
DR GeneCards; FAM135B; -.
DR HGNC; HGNC:28029; FAM135B.
DR HPA; ENSG00000147724; Tissue enhanced (brain, retina, testis).
DR neXtProt; NX_Q49AJ0; -.
DR OpenTargets; ENSG00000147724; -.
DR PharmGKB; PA162386277; -.
DR VEuPathDB; HostDB:ENSG00000147724; -.
DR eggNOG; KOG2205; Eukaryota.
DR GeneTree; ENSGT00940000156079; -.
DR HOGENOM; CLU_003176_0_0_1; -.
DR InParanoid; Q49AJ0; -.
DR OMA; PRKGLHH; -.
DR OrthoDB; 1132320at2759; -.
DR PhylomeDB; Q49AJ0; -.
DR TreeFam; TF314837; -.
DR PathwayCommons; Q49AJ0; -.
DR SignaLink; Q49AJ0; -.
DR BioGRID-ORCS; 51059; 7 hits in 1057 CRISPR screens.
DR ChiTaRS; FAM135B; human.
DR GeneWiki; FAM135B; -.
DR GenomeRNAi; 51059; -.
DR Pharos; Q49AJ0; Tbio.
DR PRO; PR:Q49AJ0; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q49AJ0; protein.
DR Bgee; ENSG00000147724; Expressed in left testis and 102 other tissues.
DR ExpressionAtlas; Q49AJ0; baseline and differential.
DR Genevisible; Q49AJ0; HS.
DR GO; GO:0044255; P:cellular lipid metabolic process; IBA:GO_Central.
DR Gene3D; 3.40.50.1820; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR022122; DUF3657.
DR InterPro; IPR007751; DUF676_lipase-like.
DR InterPro; IPR044294; Lipase-like.
DR PANTHER; PTHR12482; PTHR12482; 1.
DR Pfam; PF12394; DUF3657; 1.
DR Pfam; PF05057; DUF676; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..1406
FT /note="Protein FAM135B"
FT /id="PRO_0000314171"
FT REGION 519..548
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 770..820
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 801..818
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 777
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DAI6"
FT MOD_RES 778
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9DAI6"
FT VAR_SEQ 1..99
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030232"
FT VAR_SEQ 1094..1141
FT /note="SFYQAKEKFKKELKIEGFLYSDLTVLASDIPYFPPEEEEENLEDGIHL ->
FT RGRGRKFGRWNSPGCLCPWPGWEQCRPPAGKDFHRTGAPWRKTGLPNV (in
FT isoform 3)"
FT /evidence="ECO:0000303|Ref.1, ECO:0000303|Ref.4,
FT ECO:0000303|Ref.5"
FT /id="VSP_030233"
FT VAR_SEQ 1142..1406
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1, ECO:0000303|Ref.4,
FT ECO:0000303|Ref.5"
FT /id="VSP_030234"
FT VAR_SEQ 1213
FT /note="S -> R (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030235"
FT VAR_SEQ 1214..1406
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030236"
FT VARIANT 477
FT /note="I -> V (in dbSNP:rs7835830)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_053980"
FT VARIANT 578
FT /note="S -> N (in dbSNP:rs57534956)"
FT /id="VAR_062218"
FT VARIANT 846
FT /note="D -> N (in dbSNP:rs2978180)"
FT /id="VAR_053981"
FT VARIANT 1142
FT /note="V -> I (in dbSNP:rs35765793)"
FT /id="VAR_062219"
FT CONFLICT 245
FT /note="C -> W (in Ref. 3; AAH37288)"
FT /evidence="ECO:0000305"
FT CONFLICT 1020
FT /note="F -> V (in Ref. 4; AAD20030)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1406 AA; 155770 MW; E2C3831C53A6CA13 CRC64;
MSEIQGTVEF SVELHKFYNV DLFQRGYYQI RVTLKVSSRI PHRLSASIAG QTESSSLHSA
CVHDSTVHSR VFQILYRNEE VPINDAVVFR VHLLLGGERM EDALSEVDFQ LKVDLHFTDS
EQQLRDVAGA PMVSSRTLGL HFHPRNGLHH QVPVMFDYFH LSVISVTVHA ALVALQQPLI
SFTRPGRGSW LGKGGPDTGQ EQSIISLENL VFGAGYCKPT SSEGSFYITS ENCMQHAHKW
HRDLCLLLLH AYRGLRLHFL VIMRDIPELP HTELEALAVE ETLSQLCSEL QMLNNPEKIA
EQISKDLAWL TSHMMTLWTQ FLDTVTLHSQ VTTYLTQEHH TLRVRRFSEA FFYMEHQKLA
VLTFQENLIQ THSQLSLDIR NSEYLTSMPP LPAECLDIDG DWNTLPVIFE DRYVDCPATG
HNLSVYPNFD VPVTSPTIMN LKDKEDNCMV NSNLSFREDL VLSTIKPSQM DSDEEVIRCP
EPGENVATQN HMDMCSESQV YISIGEFQNK AGVPEDECWT GQTSDAGTYP VADVDTSRRS
PGPEDGQAPV LTYIDVKSSN KNPSRAEPLV AFNAQHESRS SRDKYGLDRT GLSKVVVGGS
HQNAISSDKT TLHELSTLGK GIDQEGKMVL LSLKLTPSEP CDPLSSTLRE PLDIRSSLKD
SHTEEQEELS VLSGVIKRSS SIISDSGIES EPSSVAWSEA RSRALELPSD REVLHPFVRR
HALHRNSLEG GHTESNTSLP SGIQASLTSI SSLPFEEDER EVALTKLTKS VSAPHISSPE
EAAEDADTKQ QDGGFAEPSD MHSKSQGSPG SCSQLCGDSG TDAGADHPLV EIVLDADNQQ
GPGYIDIPKG KGKQFDAQGH CLPDGRTENT PGVETKGLNL KIPRVIALEN PRTRSLHRAL
EETPKGMPKD LNVGQQALSN SGISEVEGLS QHQVPELSCT SAADAINRNS TGQQSQSGSP
CIMDDTAFNR GVNAFPEAKH KAGTVCPTVT HSVHSQVLKN QELKAGTSIM GSHLTSAETF
TLDSLKAVEV VNLSVSCTAT CLPFSSVPKE TPARAGFSSK QTLFPITHQP LGSFGVVSTH
SSTLDEEVSE RMFSFYQAKE KFKKELKIEG FLYSDLTVLA SDIPYFPPEE EEENLEDGIH
LVVCVHGLDG NSADLRLVKT FIELGLPGGK LDFLMSEKNQ MDTFADFDTM TDRLLDEIIQ
HIQLYNLSIS RISFIGHSLG NIIIRSVLTR PRFRYYLNKL HTFLSLSGPH LGTLYNNSTL
VSTGLWLMQK LKKSGSLLQL TFRDNADLRK CFLYQLSQKT GLQYFKNVVL VASPQDRYVP
FHSARIEMCK TALKDRHTGP VYAEMINNLL GPLVEAKDCT LIRHNVFHAL PNTANTLIGR
AAHIAVLDSE LFLEKFFLVA GLNYFK
