ID   HHLA1_HUMAN             Reviewed;         531 AA.
AC   C9JL84;
DT   18-MAY-2010, integrated into UniProtKB/Swiss-Prot.
DT   03-NOV-2009, sequence version 1.
DT   16-JAN-2019, entry version 57.
DE   RecName: Full=HERV-H LTR-associating protein 1;
DE   Flags: Precursor;
GN   Name=HHLA1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC   TISSUE=Teratocarcinoma;
RX   PubMed=10329003; DOI=10.1006/geno.1999.5787;
RA   Kowalski P.E., Freeman J.D., Mager D.L.;
RT   "Intergenic splicing between a HERV-H endogenous retrovirus and two
RT   adjacent human genes.";
RL   Genomics 57:371-379(1999).
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.,
RA   Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA   Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA   Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA   DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA   Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA   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.,
RA   O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA   Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA   Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA   Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA   Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA   Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [3]
RP   ALTERNATIVE SPLICING.
RX   PubMed=8382789; DOI=10.1093/nar/21.1.135;
RA   Feuchter-Murthy A.E., Freeman J.D., Mager D.L.;
RT   "Splicing of a human endogenous retrovirus to a novel phospholipase A2
RT   related gene.";
RL   Nucleic Acids Res. 21:135-143(1993).
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC         Comment=Additional isoforms seem to exist, due to intergenic
CC         splicing between the HHLA1 and OC90 genes. This event may be
CC         induced by the LTR promoter of an endogeneous retrovirus of the
CC         HERV-H family, localized in the intron of the HHLA1 gene.;
CC       Name=1;
CC         IsoId=C9JL84-1; Sequence=Displayed;
CC       Name=2; Synonyms=PLA2L;
CC         IsoId=C9JL84-2; Sequence=VSP_039212;
CC         Note=Expressed in teratocarcinoma cell lines.;
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DR   EMBL; AF110315; AAD13107.1; -; mRNA.
DR   EMBL; AC092817; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC100868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC131042; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001138567.1; NM_001145095.1. [C9JL84-1]
DR   UniGene; Hs.285026; -.
DR   ProteinModelPortal; C9JL84; -.
DR   SMR; C9JL84; -.
DR   iPTMnet; C9JL84; -.
DR   PhosphoSitePlus; C9JL84; -.
DR   BioMuta; HHLA1; -.
DR   PRIDE; C9JL84; -.
DR   ProteomicsDB; 10668; -.
DR   ProteomicsDB; 10669; -. [C9JL84-2]
DR   Ensembl; ENST00000414222; ENSP00000388322; ENSG00000132297. [C9JL84-1]
DR   GeneID; 10086; -.
DR   KEGG; hsa:10086; -.
DR   UCSC; uc011liy.1; human. [C9JL84-1]
DR   CTD; 10086; -.
DR   DisGeNET; 10086; -.
DR   EuPathDB; HostDB:ENSG00000132297.11; -.
DR   GeneCards; HHLA1; -.
DR   HGNC; HGNC:4904; HHLA1.
DR   HPA; HPA059051; -.
DR   MIM; 604109; gene.
DR   neXtProt; NX_C9JL84; -.
DR   OpenTargets; ENSG00000132297; -.
DR   PharmGKB; PA29277; -.
DR   GeneTree; ENSGT00530000064699; -.
DR   HOGENOM; HOG000132989; -.
DR   InParanoid; C9JL84; -.
DR   OrthoDB; 798062at2759; -.
DR   PhylomeDB; C9JL84; -.
DR   GenomeRNAi; 10086; -.
DR   PRO; PR:C9JL84; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   Bgee; ENSG00000132297; Expressed in 8 organ(s), highest expression level in secondary oocyte.
DR   ExpressionAtlas; C9JL84; baseline and differential.
DR   Genevisible; C9JL84; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   InterPro; IPR037643; HHLA1.
DR   PANTHER; PTHR15299; PTHR15299; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Complete proteome; Glycoprotein;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL        1     29       {ECO:0000255}.
FT   CHAIN        30    531       HERV-H LTR-associating protein 1.
FT                                /FTId=PRO_0000394219.
FT   CARBOHYD     79     79       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    143    143       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    161    161       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   VAR_SEQ       1    225       MLGFLSRGPSMKLCMGLACVLSLWNTVSGIKGEAKKEKGMT
FT                                FLPTTVSGLREEERKEKGVAFLATTELPARSIDLSALNLTE
FT                                LVNGMLSRALKDSKKFFSLLSVTSYSSFAFHKFSVAVYNIS
FT                                NLKTVDPAKFPTRYCYCLNNRTNDLSDFTALLVDIIGNSTS
FT                                YLTEIFKSTSILSVNQSNESDCIFICVMTGKSGRNLSDFWE
FT                                IEEKYPIINYTFTSGLSGVL -> MEETNSSSKDMYQSPGE
FT                                AEGWRWKKGSDRGQNLFRKHSKCLILLIRERFESPHSYICS
FT                                PVTFQFFYAQSVKHVNVTIDCLPE (in isoform 2).
FT                                {ECO:0000303|PubMed:10329003}.
FT                                /FTId=VSP_039212.
FT   CONFLICT    390    390       L -> S (in Ref. 1; AAD13107).
FT                                {ECO:0000305}.
SQ   SEQUENCE   531 AA;  58297 MW;  3590C109EEF99A18 CRC64;
     MLGFLSRGPS MKLCMGLACV LSLWNTVSGI KGEAKKEKGM TFLPTTVSGL REEERKEKGV
     AFLATTELPA RSIDLSALNL TELVNGMLSR ALKDSKKFFS LLSVTSYSSF AFHKFSVAVY
     NISNLKTVDP AKFPTRYCYC LNNRTNDLSD FTALLVDIIG NSTSYLTEIF KSTSILSVNQ
     SNESDCIFIC VMTGKSGRNL SDFWEIEEKY PIINYTFTSG LSGVLGAATR GTARTSKPTT
     KSQKTLPSTS PGHWTQSTPW ASALRSSPWT ETAAPSETEE TLNTGRPPEL PARATATWFS
     ASHTLPALAT RRVARTQWLT ADRQTWASIS SVPWAQTISE KKPGGSLWET RSSPPTTAGT
     EEAMNTTSLL APAAEIMATP GSPSQASPTL GAFTHGTQTP SPTKATAPRY PQTGDLSAEW
     PFTAGEEPVL VPRPHQVSRC PQPLFKVGAM AAAPLTLAIQ RLNPCLMELC QFFQQCLCMS
     QRSPRTEDMR YCLEYYSWFL KNATYICQRV KRVSHSHTLK QKCLENICKS V
//