MB214_HUMAN
ID MB214_HUMAN Reviewed; 447 AA.
AC Q08AI8; B3KPP9; H7BXM3; Q08AI9; Q53QU5; Q9H622;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 110.
DE RecName: Full=Protein mab-21-like 4 {ECO:0000305};
GN Name=MAB21L4 {ECO:0000312|HGNC:HGNC:26216};
GN Synonyms=C2orf54 {ECO:0000312|HGNC:HGNC:26216};
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] (ISOFORMS 1 AND 3), AND VARIANT
RP PRO-309.
RC TISSUE=Small intestine, and Tongue;
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=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT PRO-309.
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q08AI8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q08AI8-2; Sequence=VSP_025680, VSP_025681;
CC Name=3;
CC IsoId=Q08AI8-3; Sequence=VSP_025679, VSP_025682;
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DR EMBL; AK026324; BAB15445.1; -; mRNA.
DR EMBL; AK056601; BAG51761.1; -; mRNA.
DR EMBL; AC104809; AAY24169.1; -; Genomic_DNA.
DR EMBL; BC125154; AAI25155.1; -; mRNA.
DR EMBL; BC125155; AAI25156.1; -; mRNA.
DR CCDS; CCDS42839.1; -. [Q08AI8-1]
DR CCDS; CCDS42840.1; -. [Q08AI8-3]
DR CCDS; CCDS63187.1; -. [Q08AI8-2]
DR RefSeq; NP_001078906.2; NM_001085437.2. [Q08AI8-1]
DR RefSeq; NP_001269850.1; NM_001282921.1. [Q08AI8-2]
DR RefSeq; NP_079137.3; NM_024861.3. [Q08AI8-3]
DR RefSeq; XP_011510179.1; XM_011511877.1. [Q08AI8-1]
DR AlphaFoldDB; Q08AI8; -.
DR SMR; Q08AI8; -.
DR BioGRID; 122997; 18.
DR IntAct; Q08AI8; 1.
DR STRING; 9606.ENSP00000373586; -.
DR iPTMnet; Q08AI8; -.
DR PhosphoSitePlus; Q08AI8; -.
DR BioMuta; C2orf54; -.
DR DMDM; 158564111; -.
DR EPD; Q08AI8; -.
DR MassIVE; Q08AI8; -.
DR MaxQB; Q08AI8; -.
DR PaxDb; Q08AI8; -.
DR PeptideAtlas; Q08AI8; -.
DR PRIDE; Q08AI8; -.
DR ProteomicsDB; 43330; -.
DR ProteomicsDB; 58675; -. [Q08AI8-1]
DR ProteomicsDB; 58676; -. [Q08AI8-2]
DR ProteomicsDB; 58677; -. [Q08AI8-3]
DR Antibodypedia; 66213; 50 antibodies from 10 providers.
DR DNASU; 79919; -.
DR Ensembl; ENST00000307486.12; ENSP00000302779.8; ENSG00000172478.18. [Q08AI8-2]
DR Ensembl; ENST00000388934.5; ENSP00000373586.4; ENSG00000172478.18. [Q08AI8-1]
DR Ensembl; ENST00000402775.6; ENSP00000385338.2; ENSG00000172478.18. [Q08AI8-3]
DR GeneID; 79919; -.
DR KEGG; hsa:79919; -.
DR MANE-Select; ENST00000388934.5; ENSP00000373586.4; NM_001085437.3; NP_001078906.3.
DR UCSC; uc002wac.5; human. [Q08AI8-1]
DR CTD; 79919; -.
DR DisGeNET; 79919; -.
DR GeneCards; MAB21L4; -.
DR HGNC; HGNC:26216; MAB21L4.
DR HPA; ENSG00000172478; Tissue enhanced (esophagus, vagina).
DR neXtProt; NX_Q08AI8; -.
DR OpenTargets; ENSG00000172478; -.
DR PharmGKB; PA162379226; -.
DR VEuPathDB; HostDB:ENSG00000172478; -.
DR eggNOG; ENOG502QV1H; Eukaryota.
DR GeneTree; ENSGT01050000244827; -.
DR HOGENOM; CLU_058747_0_0_1; -.
DR InParanoid; Q08AI8; -.
DR OMA; VHCKHHS; -.
DR OrthoDB; 643988at2759; -.
DR PhylomeDB; Q08AI8; -.
DR TreeFam; TF315012; -.
DR PathwayCommons; Q08AI8; -.
DR SignaLink; Q08AI8; -.
DR BioGRID-ORCS; 79919; 16 hits in 1034 CRISPR screens.
DR ChiTaRS; C2orf54; human.
DR GenomeRNAi; 79919; -.
DR Pharos; Q08AI8; Tdark.
DR PRO; PR:Q08AI8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q08AI8; protein.
DR Bgee; ENSG00000172478; Expressed in lower esophagus mucosa and 122 other tissues.
DR ExpressionAtlas; Q08AI8; baseline and differential.
DR Genevisible; Q08AI8; HS.
DR InterPro; IPR024810; Mab-21_dom.
DR InterPro; IPR024809; MAB21L4.
DR PANTHER; PTHR10656:SF7; PTHR10656:SF7; 1.
DR Pfam; PF03281; Mab-21; 1.
DR SMART; SM01265; Mab-21; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..447
FT /note="Protein mab-21-like 4"
FT /id="PRO_0000288449"
FT VAR_SEQ 1..168
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025679"
FT VAR_SEQ 1..149
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025680"
FT VAR_SEQ 150..171
FT /note="CVLKDLLVAAIVHCKHHSLIAP -> MDTGVWGWGAAACRWGPAERAA (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025681"
FT VAR_SEQ 169..171
FT /note="IAP -> MDT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025682"
FT VARIANT 170
FT /note="A -> T (in dbSNP:rs4359646)"
FT /id="VAR_050714"
FT VARIANT 309
FT /note="L -> P (in dbSNP:rs6707568)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032419"
FT CONFLICT 173
FT /note="S -> P (in Ref. 1; BAB15445)"
FT /evidence="ECO:0000305"
FT CONFLICT 317
FT /note="L -> P (in Ref. 1; BAB15445)"
FT /evidence="ECO:0000305"
FT CONFLICT Q08AI8-2:11
FT /note="A -> S (in Ref. 3; AAI25156)"
FT /evidence="ECO:0000305"
FT CONFLICT Q08AI8-2:21
FT /note="A -> P (in Ref. 3; AAI25155/AAI25156)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 447 AA; 49565 MW; 5F89B2AB819A6FAE CRC64;
MPAPALPTSA MAVQVPLWHH YLQAIRSREA PRAQDFQRAE NVLLTVLERV HALDPRFIVD
YSRGLEAFQF ALRSSEDPMD MEVPLWVDAE ALLIEEPEAT QPEDGLELCH LGVPREGAGL
ERWTTEDTFT ASSEGDAKCR GHIVPSKVLC VLKDLLVAAI VHCKHHSLIA PGSLNAASLR
EEQLHLSLLV SSGWRTISFH VVPVVRRKLG APALEGVQQM PGFPEGSLRR ILSQGVDLVP
ASAQLWRTST DYLLTRLLGE LGSLQGHRLD SLSILDRVNH ESWRDSGQTD GLTFGHLKMV
LLWASVLFLA PEDWAELQGA VYRLLVVLLC CLATRKLPHF LHPQRNLLQG SGLDLGAIYQ
RVEGFASQPE AALRIHATHL GRSPPPRIGS GLKALLQLPA SDPTYWATAY FDVLLDKFQV
FNIQDKDRIS AMQSIFQKTR TLGGEES
