AXA81_HUMAN
ID AXA81_HUMAN Reviewed; 327 AA.
AC Q5VT79; A0A0B4J2D4; B2R939; Q53FY2; Q5VT78; Q96H89;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-JUL-2015, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=Annexin A8-like protein 1 {ECO:0000305};
GN Name=ANXA8L1 {ECO:0000312|HGNC:HGNC:23334};
GN Synonyms=ANXA8L2 {ECO:0000312|HGNC:HGNC:23334};
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] {ECO:0000305, ECO:0000312|EMBL:BAD96869.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-134.
RC TISSUE=Lung {ECO:0000312|EMBL:BAD96869.1};
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT VAL-134.
RC TISSUE=Trachea;
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 [3] {ECO:0000312|EMBL:CAH70574.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-192.
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 [4] {ECO:0000305, ECO:0000312|EMBL:AAH08813.3}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta {ECO:0000312|EMBL:AAH08813.3};
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=2;
CC Name=1 {ECO:0000269|PubMed:15164054};
CC IsoId=Q5VT79-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:15164054, ECO:0000269|PubMed:15489334};
CC IsoId=Q5VT79-2; Sequence=VSP_052782, VSP_052783, VSP_052784;
CC -!- DOMAIN: A pair of annexin repeats may form one binding site for calcium
CC and phospholipid. {ECO:0000250|UniProtKB:P13928}.
CC -!- SIMILARITY: Belongs to the annexin family. {ECO:0000255|PROSITE-
CC ProRule:PRU01245}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK223149; BAD96869.1; -; mRNA.
DR EMBL; AK313626; BAG36386.1; -; mRNA.
DR EMBL; AC244230; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL603965; CAH70574.1; -; Genomic_DNA.
DR EMBL; AL603965; CAH70575.1; -; Genomic_DNA.
DR EMBL; AL732434; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008813; AAH08813.3; -; mRNA.
DR CCDS; CCDS73097.1; -. [Q5VT79-2]
DR CCDS; CCDS73098.1; -. [Q5VT79-1]
DR RefSeq; NP_001092315.2; NM_001098845.2. [Q5VT79-1]
DR RefSeq; NP_001265853.1; NM_001278924.1. [Q5VT79-2]
DR AlphaFoldDB; Q5VT79; -.
DR SMR; Q5VT79; -.
DR BioGRID; 608549; 17.
DR IntAct; Q5VT79; 3.
DR STRING; 9606.ENSP00000480221; -.
DR GlyGen; Q5VT79; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5VT79; -.
DR PhosphoSitePlus; Q5VT79; -.
DR SwissPalm; Q5VT79; -.
DR BioMuta; ANXA8L1; -.
DR DMDM; 74756781; -.
DR EPD; Q5VT79; -.
DR jPOST; Q5VT79; -.
DR MassIVE; Q5VT79; -.
DR PaxDb; Q5VT79; -.
DR PeptideAtlas; Q5VT79; -.
DR PRIDE; Q5VT79; -.
DR ProteomicsDB; 65310; -. [Q5VT79-1]
DR ProteomicsDB; 65311; -. [Q5VT79-2]
DR Antibodypedia; 74698; 110 antibodies from 19 providers.
DR DNASU; 244; -.
DR Ensembl; ENST00000619162.5; ENSP00000480221.1; ENSG00000264230.9. [Q5VT79-1]
DR Ensembl; ENST00000622769.4; ENSP00000483608.1; ENSG00000264230.9. [Q5VT79-2]
DR GeneID; 728113; -.
DR KEGG; hsa:728113; -.
DR MANE-Select; ENST00000619162.5; ENSP00000480221.1; NM_001098845.3; NP_001092315.2.
DR CTD; 728113; -.
DR DisGeNET; 728113; -.
DR GeneCards; ANXA8L1; -.
DR HGNC; HGNC:23334; ANXA8L1.
DR HPA; ENSG00000264230; Group enriched (esophagus, skin, vagina).
DR neXtProt; NX_Q5VT79; -.
DR OpenTargets; ENSG00000264230; -.
DR VEuPathDB; HostDB:ENSG00000264230; -.
DR eggNOG; KOG0819; Eukaryota.
DR GeneTree; ENSGT00940000161044; -.
DR InParanoid; Q5VT79; -.
DR OMA; RCTRNIR; -.
DR TreeFam; TF105452; -.
DR PathwayCommons; Q5VT79; -.
DR SignaLink; Q5VT79; -.
DR BioGRID-ORCS; 728113; 44 hits in 984 CRISPR screens.
DR ChiTaRS; ANXA8L1; human.
DR GenomeRNAi; 728113; -.
DR Pharos; Q5VT79; Tbio.
DR PRO; PR:Q5VT79; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5VT79; protein.
DR Bgee; ENSG00000264230; Expressed in skin of abdomen and 85 other tissues.
DR ExpressionAtlas; Q5VT79; baseline and differential.
DR GO; GO:0005509; F:calcium ion binding; IBA:GO_Central.
DR GO; GO:0005544; F:calcium-dependent phospholipid binding; IEA:UniProtKB-KW.
DR GO; GO:0016197; P:endosomal transport; IBA:GO_Central.
DR GO; GO:0007032; P:endosome organization; IBA:GO_Central.
DR GO; GO:1900138; P:negative regulation of phospholipase A2 activity; IBA:GO_Central.
DR GO; GO:1900004; P:negative regulation of serine-type endopeptidase activity; IBA:GO_Central.
DR Gene3D; 1.10.220.10; -; 4.
DR InterPro; IPR001464; Annexin.
DR InterPro; IPR018502; Annexin_repeat.
DR InterPro; IPR018252; Annexin_repeat_CS.
DR InterPro; IPR037104; Annexin_sf.
DR InterPro; IPR009115; ANX8.
DR PANTHER; PTHR10502:SF133; PTHR10502:SF133; 1.
DR Pfam; PF00191; Annexin; 4.
DR PRINTS; PR00196; ANNEXIN.
DR PRINTS; PR01808; ANNEXINVIII.
DR SMART; SM00335; ANX; 4.
DR SUPFAM; SSF47874; SSF47874; 1.
DR PROSITE; PS00223; ANNEXIN_1; 4.
DR PROSITE; PS51897; ANNEXIN_2; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; Annexin; Calcium; Calcium/phospholipid-binding;
KW Metal-binding; Reference proteome; Repeat.
FT CHAIN 1..327
FT /note="Annexin A8-like protein 1"
FT /id="PRO_0000328939"
FT REPEAT 21..92
FT /note="Annexin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01245"
FT REPEAT 93..164
FT /note="Annexin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01245"
FT REPEAT 177..249
FT /note="Annexin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01245"
FT REPEAT 253..324
FT /note="Annexin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01245"
FT BINDING 266
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250"
FT BINDING 268
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250"
FT BINDING 270
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250"
FT BINDING 310
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250"
FT VAR_SEQ 38
FT /note="G -> GVGSQLLSHQAAAFAFPSSALTSVSPWGQQGHLCCNPAG (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15164054,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052782"
FT VAR_SEQ 109..165
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15164054,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052783"
FT VAR_SEQ 217..248
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15164054,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052784"
FT VARIANT 134
FT /note="A -> V (in dbSNP:rs201596209)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1"
FT /id="VAR_067447"
FT VARIANT 177
FT /note="A -> G (in dbSNP:rs1487921382)"
FT /id="VAR_048254"
FT VARIANT 192
FT /note="K -> N (in dbSNP:rs1249096344)"
FT /evidence="ECO:0000269|PubMed:15164054"
FT /id="VAR_067448"
SQ SEQUENCE 327 AA; 36879 MW; 3AAEE1D7072A9379 CRC64;
MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL
QDAQDLYAAG EKIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG
KTLSSMIMED TSGDYKNALL SLVGSDP
