F135A_HUMAN
ID F135A_HUMAN Reviewed; 1515 AA.
AC Q9P2D6; A2RRQ5; Q3C0H3; Q5JXK0; Q5JXK1; Q68DW0; Q6P081; Q9H0F2; Q9NU48;
AC Q9NUQ5; Q9NXL5;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Protein FAM135A;
GN Name=FAM135A; Synonyms=KIAA1411;
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 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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).
RN [3]
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 [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1410-1515 (ISOFORMS 1/2/3), AND VARIANT GLY-1242.
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 17-419 (ISOFORM 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 902-1515 (ISOFORM 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1324-1515 (ISOFORM 1).
RC TISSUE=Colon, and Placenta;
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 415-1515 (ISOFORM 1), AND VARIANT
RP GLY-1242.
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [8]
RP TISSUE SPECIFICITY, AND VARIANT GLY-1242.
RX PubMed=16192744; DOI=10.1159/000088493;
RA Abd El-Aziz M.M., Patel R.J., El-Ashry M.F., Barragan I., Marcos I.,
RA Borrego S., Antinolo G., Bhattacharya S.S.;
RT "Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1,
RT as causative of autosomal recessive retinitis pigmentosa.";
RL Ophthalmic Res. 38:19-23(2006).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9P2D6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2D6-2; Sequence=VSP_030227;
CC Name=3;
CC IsoId=Q9P2D6-3; Sequence=VSP_030225, VSP_030226, VSP_030227;
CC Name=4;
CC IsoId=Q9P2D6-4; Sequence=VSP_030230;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:16192744}.
CC -!- SIMILARITY: Belongs to the FAM135 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH65767.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=BAA90995.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=BAA92649.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAB66754.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB037832; BAA92649.1; ALT_INIT; mRNA.
DR EMBL; CR749254; CAH18110.1; -; mRNA.
DR EMBL; AL078591; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48820.1; -; Genomic_DNA.
DR EMBL; BC065767; AAH65767.1; ALT_SEQ; mRNA.
DR EMBL; BC131782; AAI31783.1; -; mRNA.
DR EMBL; AK000183; BAA90995.1; ALT_SEQ; mRNA.
DR EMBL; AK002067; BAA92066.1; -; mRNA.
DR EMBL; AK023639; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL136820; CAB66754.1; ALT_INIT; mRNA.
DR CCDS; CCDS34481.1; -. [Q9P2D6-3]
DR CCDS; CCDS47448.1; -. [Q9P2D6-2]
DR CCDS; CCDS55028.1; -. [Q9P2D6-1]
DR RefSeq; NP_001099001.1; NM_001105531.2. [Q9P2D6-2]
DR RefSeq; NP_001156001.1; NM_001162529.2. [Q9P2D6-1]
DR RefSeq; NP_001317926.1; NM_001330997.1. [Q9P2D6-2]
DR RefSeq; NP_001317930.1; NM_001331001.1. [Q9P2D6-2]
DR RefSeq; NP_001317931.1; NM_001331002.1. [Q9P2D6-2]
DR RefSeq; NP_065870.3; NM_020819.4. [Q9P2D6-3]
DR RefSeq; XP_016866614.1; XM_017011125.1.
DR RefSeq; XP_016866615.1; XM_017011126.1.
DR RefSeq; XP_016866616.1; XM_017011127.1. [Q9P2D6-1]
DR AlphaFoldDB; Q9P2D6; -.
DR BioGRID; 121632; 65.
DR IntAct; Q9P2D6; 14.
DR MINT; Q9P2D6; -.
DR STRING; 9606.ENSP00000410768; -.
DR ESTHER; human-FAM135A; Duf_676.
DR iPTMnet; Q9P2D6; -.
DR PhosphoSitePlus; Q9P2D6; -.
DR BioMuta; FAM135A; -.
DR DMDM; 166233529; -.
DR EPD; Q9P2D6; -.
DR jPOST; Q9P2D6; -.
DR MassIVE; Q9P2D6; -.
DR MaxQB; Q9P2D6; -.
DR PaxDb; Q9P2D6; -.
DR PeptideAtlas; Q9P2D6; -.
DR PRIDE; Q9P2D6; -.
DR ProteomicsDB; 83778; -. [Q9P2D6-1]
DR ProteomicsDB; 83779; -. [Q9P2D6-2]
DR ProteomicsDB; 83780; -. [Q9P2D6-3]
DR ProteomicsDB; 83781; -. [Q9P2D6-4]
DR Antibodypedia; 31231; 23 antibodies from 9 providers.
DR DNASU; 57579; -.
DR Ensembl; ENST00000361499.7; ENSP00000354913.3; ENSG00000082269.17. [Q9P2D6-2]
DR Ensembl; ENST00000370479.7; ENSP00000359510.4; ENSG00000082269.17. [Q9P2D6-1]
DR Ensembl; ENST00000418814.7; ENSP00000410768.2; ENSG00000082269.17. [Q9P2D6-1]
DR Ensembl; ENST00000457062.6; ENSP00000409201.2; ENSG00000082269.17. [Q9P2D6-3]
DR Ensembl; ENST00000505868.1; ENSP00000423307.1; ENSG00000082269.17. [Q9P2D6-4]
DR GeneID; 57579; -.
DR KEGG; hsa:57579; -.
DR MANE-Select; ENST00000418814.7; ENSP00000410768.2; NM_001162529.3; NP_001156001.1.
DR UCSC; uc003pfh.4; human. [Q9P2D6-1]
DR CTD; 57579; -.
DR GeneCards; FAM135A; -.
DR HGNC; HGNC:21084; FAM135A.
DR HPA; ENSG00000082269; Tissue enhanced (esophagus).
DR neXtProt; NX_Q9P2D6; -.
DR OpenTargets; ENSG00000082269; -.
DR PharmGKB; PA162386230; -.
DR VEuPathDB; HostDB:ENSG00000082269; -.
DR eggNOG; KOG2205; Eukaryota.
DR GeneTree; ENSGT00940000157565; -.
DR InParanoid; Q9P2D6; -.
DR OMA; VESHCTE; -.
DR OrthoDB; 1132320at2759; -.
DR PhylomeDB; Q9P2D6; -.
DR TreeFam; TF314837; -.
DR PathwayCommons; Q9P2D6; -.
DR Reactome; R-HSA-9696273; RND1 GTPase cycle.
DR SignaLink; Q9P2D6; -.
DR BioGRID-ORCS; 57579; 8 hits in 1077 CRISPR screens.
DR ChiTaRS; FAM135A; human.
DR GeneWiki; FAM135A; -.
DR GenomeRNAi; 57579; -.
DR Pharos; Q9P2D6; Tdark.
DR PRO; PR:Q9P2D6; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9P2D6; protein.
DR Bgee; ENSG00000082269; Expressed in esophagus squamous epithelium and 173 other tissues.
DR ExpressionAtlas; Q9P2D6; baseline and differential.
DR Genevisible; Q9P2D6; 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; Reference proteome.
FT CHAIN 1..1515
FT /note="Protein FAM135A"
FT /id="PRO_0000314168"
FT REGION 569..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1062..1093
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 569..583
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 27..69
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_030225"
FT VAR_SEQ 273
FT /note="E -> ELAKANMQLLYERLLRRKQLRTQKDNH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_030226"
FT VAR_SEQ 420..615
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_030227"
FT VAR_SEQ 1449..1515
FT /note="QIYSEMIHNLLRPVLQSKDCNLVRYNVINALPNTADSLIGRAAHIAVLDSEI
FT FLEKFFLVAALKYFQ -> NGIKLFQRVIGINELFPKFFL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030230"
FT VARIANT 725
FT /note="I -> V (in dbSNP:rs9455142)"
FT /id="VAR_037854"
FT VARIANT 954
FT /note="P -> S (in dbSNP:rs16869301)"
FT /id="VAR_037855"
FT VARIANT 1242
FT /note="D -> G (in dbSNP:rs2747701)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16192744"
FT /id="VAR_037856"
FT CONFLICT 738
FT /note="A -> T (in Ref. 2; CAH18110)"
FT /evidence="ECO:0000305"
FT CONFLICT 1330
FT /note="N -> D (in Ref. 2; CAH18110)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1515 AA; 169840 MW; 43DB6301DE0F907F CRC64;
MTEVQAMVEF SVELNKFYNV DLFQRGFYQI RASMKIPSRI PHRVEASLLH ATGMTLAFPA
SVHDSLICSK TFQILYKNEE VVLNDVMIFK VKMLLDERKI EETLEEMNFL LSLDLHFTDG
DYSADDLNAL QLISSRTLKL HFSPHRGLHH HVNVMFDYFH LSVVSVTVHA SLVALHQPLI
SFPRPVKTTW LNRNAPAQNK DSVIPTLESV VFGINYTKQL SPDGCSFIIA DSFLHHAYRF
HYTLCATLLL AFKGLHSYFI TVTEEIPSCQ KLELEEMDVE ARLTELCEEV KKIENPDELA
ELINMNLAQL CSLLMALWGQ FLEVITLHEE LRILLAQEHH TLRVRRFSEA FFCFEHPREA
AIAYQELHAQ SHLQMCTAIK NTSFCSSLPP LPIECSELDG DLNSLPIIFE DRYLDSVTED
LDAPWMGIQN LQRSESSKMD KYETEESSVA GLSSPELKVR PAGASSIWYT EGEKQLTKSL
KGKNEESNKS KVKVTKLMKT MKSENTKKLI KQNSKDSVVL VGYKCLKSTA SNDLIKCFEG
NPSHSQKEGL DPTICGYNFD PKTYMRQTSQ KEASCLPTNT ERTEQKSPDI ENVQPDQFDP
LNSGNLNLCA NLSISGKLDI SQDDSEITQM EHNLASRRSS DDCHDHQTTP SLGVRTIEIK
PSNKDPFSGE NITVKLGPWT ELRQEEILVD NLLPNFESLE SNGKSKSIEI TFEKEALQEA
KCLSIGESLT KLRSNLPAPS TKEYHVVVSG DTIKLPDISA TYASSRFSDS GVESEPSSFA
THPNTDLVFE TVQGQGPCNS ERLFPQLLMK PDYNVKFSLG NHCTESTSAI SEIQSSLTSI
NSLPSDDELS PDENSKKSVV PECHLNDSKT VLNLGTTDLP KCDDTKKSSI TLQQQSVVFS
GNLDNETVAI HSLNSSIKDP LQFVFSDEET SSDVKSSCSS KPNLDTMCKG FQSPDKSNNS
TGTAITLNSK LICLGTPCVI SGSISSNTDV SEDRTMKKNS DVLNLTQMYS EIPTVESETH
LGTSDPFSAS TDIVKQGLVE NYFGSQSSTD ISDTCAVSYS NALSPQKETS EKEISNLQQE
QDKEDEEEEQ DQQMVQNGYY EETDYSALDG TINAHYTSRD ELMEERLTKS EKINSDYLRD
GINMPTVCTS GCLSFPSAPR ESPCNVKYSS KSKFDAITKQ PSSTSYNFTS SISWYESSPK
PQIQAFLQAK EELKLLKLPG FMYSEVPLLA SSVPYFSVEE EDGSEDGVHL IVCVHGLDGN
SADLRLVKTY IELGLPGGRI DFLMSERNQN DTFADFDSMT DRLLDEIIQY IQIYSLTVSK
ISFIGHSLGN LIIRSVLTRP RFKYYLNKLH TFLSLSGPHL GTLYNSSALV NTGLWFMQKW
KKSGSLLQLT CRDHSDPRQT FLYKLSNKAG LHYFKNVVLV GSLQDRYVPY HSARIEMCKT
ALKDKQSGQI YSEMIHNLLR PVLQSKDCNL VRYNVINALP NTADSLIGRA AHIAVLDSEI
FLEKFFLVAA LKYFQ
