MFA3L_HUMAN
ID MFA3L_HUMAN Reviewed; 409 AA.
AC O75121; A8K1X6; D3DP35; Q4W5N7; Q4W5N9; Q6TNA8; Q9BVE1; Q9BXK0;
DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 3.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Microfibrillar-associated protein 3-like;
DE AltName: Full=Testis development protein NYD-SP9 {ECO:0000303|Ref.1};
DE Flags: Precursor;
GN Name=MFAP3L; Synonyms=KIAA0626; ORFNames=HSD-39, HSD39;
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 2), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RA Xiao J.H., Yin L.L., Li J.M., Zhu H., Zhou Z.M., Zhao B.G., Sha J.H.;
RT "Molecular cloning, identification and characteristics of NYD-SP9: gene
RT coding protein kinase presumably involved in spermatogenesis.";
RL Chin. Sci. Bull. 47:896-901(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Yang C.B., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9734811; DOI=10.1093/dnares/5.3.169;
RA Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H.,
RA Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. X. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:169-176(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
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 [5]
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 [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
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 [8]
RP SUBCELLULAR LOCATION, PHOSPHORYLATION AT TYR-287, AND FUNCTION.
RX PubMed=24735981; DOI=10.1016/j.bbadis.2014.04.006;
RA Lou X., Kang B., Zhang J., Hao C., Tian X., Li W., Xu N., Lu Y., Liu S.;
RT "MFAP3L activation promotes colorectal cancer cell invasion and
RT metastasis.";
RL Biochim. Biophys. Acta 1842:1423-1432(2014).
CC -!- FUNCTION: May participate in the nuclear signaling of EGFR and
CC MAPK1/ERK2. May a have a role in metastasis.
CC {ECO:0000269|PubMed:24735981}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24735981};
CC Single-pass type I membrane protein {ECO:0000305}. Nucleus
CC {ECO:0000269|PubMed:24735981}. Cytoplasm {ECO:0000269|PubMed:24735981}.
CC Note=Mainly localized in the nucleus (PubMed:24735981).
CC {ECO:0000269|PubMed:24735981}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=O75121-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O75121-2; Sequence=VSP_011100;
CC Name=3;
CC IsoId=O75121-3; Sequence=VSP_014094, VSP_014095;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|Ref.1}.
CC -!- CAUTION: Protein kinase activity is reported (PubMed:24735981).
CC However, no protein kinase domain is detected by any prediction method
CC (PROSITE, Pfam). Its enzyme activity is therefore unsure.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA31601.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF327560; AAK15700.1; -; mRNA.
DR EMBL; AY391838; AAS55434.1; -; mRNA.
DR EMBL; AB014526; BAA31601.2; ALT_INIT; mRNA.
DR EMBL; AK290041; BAF82730.1; -; mRNA.
DR EMBL; AC084866; AAY41028.1; -; Genomic_DNA.
DR EMBL; AC084866; AAY41029.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04773.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04774.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04775.1; -; Genomic_DNA.
DR EMBL; BC001279; AAH01279.1; -; mRNA.
DR EMBL; BC066912; AAH66912.1; -; mRNA.
DR CCDS; CCDS34103.1; -. [O75121-1]
DR CCDS; CCDS43281.1; -. [O75121-2]
DR RefSeq; NP_001009554.1; NM_001009554.3. [O75121-2]
DR RefSeq; NP_001288576.1; NM_001301647.1. [O75121-2]
DR RefSeq; NP_001288577.1; NM_001301648.1. [O75121-2]
DR RefSeq; NP_067679.6; NM_021647.7. [O75121-1]
DR RefSeq; XP_005263425.1; XM_005263368.3. [O75121-2]
DR RefSeq; XP_016864357.1; XM_017008868.1. [O75121-1]
DR RefSeq; XP_016864358.1; XM_017008869.1. [O75121-1]
DR RefSeq; XP_016864359.1; XM_017008870.1. [O75121-1]
DR RefSeq; XP_016864360.1; XM_017008871.1. [O75121-1]
DR AlphaFoldDB; O75121; -.
DR BioGRID; 115183; 3.
DR IntAct; O75121; 2.
DR STRING; 9606.ENSP00000354583; -.
DR GlyGen; O75121; 5 sites.
DR iPTMnet; O75121; -.
DR PhosphoSitePlus; O75121; -.
DR BioMuta; MFAP3L; -.
DR EPD; O75121; -.
DR jPOST; O75121; -.
DR MassIVE; O75121; -.
DR MaxQB; O75121; -.
DR PaxDb; O75121; -.
DR PeptideAtlas; O75121; -.
DR PRIDE; O75121; -.
DR ProteomicsDB; 49774; -. [O75121-1]
DR ProteomicsDB; 49775; -. [O75121-2]
DR ProteomicsDB; 49776; -. [O75121-3]
DR Antibodypedia; 17138; 105 antibodies from 20 providers.
DR DNASU; 9848; -.
DR Ensembl; ENST00000361618.4; ENSP00000354583.3; ENSG00000198948.12. [O75121-1]
DR Ensembl; ENST00000393702.7; ENSP00000377305.2; ENSG00000198948.12. [O75121-3]
DR Ensembl; ENST00000393704.3; ENSP00000377307.3; ENSG00000198948.12. [O75121-2]
DR Ensembl; ENST00000506110.1; ENSP00000422571.1; ENSG00000198948.12. [O75121-3]
DR GeneID; 9848; -.
DR KEGG; hsa:9848; -.
DR MANE-Select; ENST00000361618.4; ENSP00000354583.3; NM_021647.8; NP_067679.6.
DR UCSC; uc003isn.4; human. [O75121-1]
DR CTD; 9848; -.
DR DisGeNET; 9848; -.
DR GeneCards; MFAP3L; -.
DR HGNC; HGNC:29083; MFAP3L.
DR HPA; ENSG00000198948; Tissue enhanced (brain, choroid plexus).
DR neXtProt; NX_O75121; -.
DR OpenTargets; ENSG00000198948; -.
DR PharmGKB; PA134974574; -.
DR VEuPathDB; HostDB:ENSG00000198948; -.
DR eggNOG; ENOG502QW9J; Eukaryota.
DR GeneTree; ENSGT00390000011576; -.
DR HOGENOM; CLU_056017_2_0_1; -.
DR InParanoid; O75121; -.
DR OMA; GGKWWLL; -.
DR OrthoDB; 1154642at2759; -.
DR PhylomeDB; O75121; -.
DR TreeFam; TF333205; -.
DR PathwayCommons; O75121; -.
DR SignaLink; O75121; -.
DR BioGRID-ORCS; 9848; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; MFAP3L; human.
DR GenomeRNAi; 9848; -.
DR Pharos; O75121; Tdark.
DR PRO; PR:O75121; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; O75121; protein.
DR Bgee; ENSG00000198948; Expressed in sperm and 187 other tissues.
DR ExpressionAtlas; O75121; baseline and differential.
DR Genevisible; O75121; HS.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR039696; MFAP3-like.
DR PANTHER; PTHR14340; PTHR14340; 1.
DR Pfam; PF07679; I-set; 1.
DR SMART; SM00409; IG; 1.
DR SMART; SM00408; IGc2; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasm; Disulfide bond;
KW Glycoprotein; Immunoglobulin domain; Membrane; Nucleus; Phosphoprotein;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..409
FT /note="Microfibrillar-associated protein 3-like"
FT /id="PRO_0000014869"
FT TOPO_DOM 29..149
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 150..172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 173..409
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 47..141
FT /note="Ig-like C2-type"
FT REGION 292..311
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 320..385
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 322..352
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 353..372
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 287
FT /note="Phosphotyrosine; by EGFR"
FT /evidence="ECO:0000269|PubMed:24735981"
FT MOD_RES 298
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D3X9"
FT MOD_RES 303
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D3X9"
FT MOD_RES 306
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D3X9"
FT MOD_RES 307
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6AYP2"
FT CARBOHYD 33
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 37
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 67
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 111
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 135
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 68..125
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 1..103
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_011100"
FT VAR_SEQ 101..102
FT /note="KW -> RL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014094"
FT VAR_SEQ 103..409
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_014095"
FT CONFLICT 362
FT /note="D -> N (in Ref. 2; AAS55434)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 409 AA; 45380 MW; 47965B61C0F8A3AA CRC64;
MDRLKSHLTV CFLPSVPFLI LVSTLATAKS VTNSTLNGTN VVLGSVPVII ARTDHIIVKE
GNSALINCSV YGIPDPQFKW YNSIGKLLKE EEDEKERGGG KWQMHDSGLL NITKVSFSDR
GKYTCVASNI YGTVNNTVTL RVIFTSGDMG VYYMVVCLVA FTIVMVLNIT RLCMMSSHLK
KTEKAINEFF RTEGAEKLQK AFEIAKRIPI ITSAKTLELA KVTQFKTMEF ARYIEELARS
VPLPPLIMNC RTIMEEIMEV VGLEEQGQNF VRHTPEGQEA ADRDEVYTIP NSLKRSDSPA
ADSDASSLHE QPQQIAIKVS VHPQSKKEHA DDQEGGQFEV KDVEETELSA EHSPETAEPS
TDVTSTELTS EEPTPVEVPD KVLPPAYLEA TEPAVTHDKN TCIIYESHV
