HHLA3_HUMAN
ID HHLA3_HUMAN Reviewed; 114 AA.
AC Q9XRX5; D3DQ74; Q5VZP2; Q96FH5; Q9XRX4;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-MAY-2011, sequence version 3.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=HERV-H LTR-associating protein 3;
DE AltName: Full=Human endogenous retrovirus-H long terminal repeat-associating protein 3;
GN Name=HHLA3;
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 3), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 13-114 (ISOFORM 4), ALTERNATIVE SPLICING (ISOFORM 2), AND TISSUE
RP SPECIFICITY.
RX PubMed=10444326; DOI=10.1006/geno.1999.5877;
RA Mager D.L., Hunter D.G., Schertzer M., Freeman J.D.;
RT "Endogenous retroviruses provide the primary polyadenylation signal for two
RT new human genes (HHLA2 and HHLA3).";
RL Genomics 59:255-263(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 2).
RC TISSUE=Bone marrow;
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 -!- INTERACTION:
CC Q9XRX5; Q13287: NMI; NbExp=8; IntAct=EBI-750554, EBI-372942;
CC Q9XRX5-2; P21333-2: FLNA; NbExp=3; IntAct=EBI-12051311, EBI-9641086;
CC Q9XRX5-2; Q99750: MDFI; NbExp=3; IntAct=EBI-12051311, EBI-724076;
CC Q9XRX5-2; Q13287: NMI; NbExp=3; IntAct=EBI-12051311, EBI-372942;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=4; Synonyms=type 3;
CC IsoId=Q9XRX5-4; Sequence=Displayed;
CC Name=2; Synonyms=type 2;
CC IsoId=Q9XRX5-2; Sequence=VSP_041094;
CC Name=3; Synonyms=type 1;
CC IsoId=Q9XRX5-3; Sequence=VSP_020542;
CC -!- TISSUE SPECIFICITY: Expressed in kidney and liver.
CC {ECO:0000269|PubMed:10444326}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD33288.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF126163; AAD33288.1; ALT_FRAME; mRNA.
DR EMBL; AF126164; AAD33289.1; -; mRNA.
DR EMBL; AL158839; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06452.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06453.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06455.1; -; Genomic_DNA.
DR EMBL; BC010922; AAH10922.1; -; mRNA.
DR EMBL; BG773961; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001026863.1; NM_001031693.2.
DR RefSeq; NP_001031722.1; NM_001036645.1.
DR RefSeq; NP_001031723.1; NM_001036646.1.
DR AlphaFoldDB; Q9XRX5; -.
DR BioGRID; 116319; 6.
DR IntAct; Q9XRX5; 3.
DR STRING; 9606.ENSP00000359978; -.
DR iPTMnet; Q9XRX5; -.
DR PhosphoSitePlus; Q9XRX5; -.
DR BioMuta; HHLA3; -.
DR DMDM; 334302897; -.
DR MassIVE; Q9XRX5; -.
DR PaxDb; Q9XRX5; -.
DR PeptideAtlas; Q9XRX5; -.
DR PRIDE; Q9XRX5; -.
DR DNASU; 11147; -.
DR GeneID; 11147; -.
DR UCSC; uc001dfa.4; human. [Q9XRX5-4]
DR CTD; 11147; -.
DR GeneCards; HHLA3; -.
DR HGNC; HGNC:4906; HHLA3.
DR MIM; 604372; gene.
DR neXtProt; NX_Q9XRX5; -.
DR PharmGKB; PA29279; -.
DR eggNOG; ENOG502TE2V; Eukaryota.
DR HOGENOM; CLU_2677598_0_0_1; -.
DR OrthoDB; 1490835at2759; -.
DR PathwayCommons; Q9XRX5; -.
DR SignaLink; Q9XRX5; -.
DR BioGRID-ORCS; 11147; 7 hits in 1074 CRISPR screens.
DR GenomeRNAi; 11147; -.
DR Pharos; Q9XRX5; Tdark.
DR PRO; PR:Q9XRX5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9XRX5; protein.
DR Genevisible; Q9XRX5; HS.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..114
FT /note="HERV-H LTR-associating protein 3"
FT /id="PRO_0000249708"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 54..114
FT /note="CTKLANMYSTSTDCREHCRRGMKAKQLKAEAGRSCQRKGVPIQTPREHSWIS
FT CKKEFEANP -> LSTERGPYPDPKRAFLDLLQERI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:10444326"
FT /id="VSP_020542"
FT VAR_SEQ 55..114
FT /note="TKLANMYSTSTDCREHCRRGMKAKQLKAEAGRSCQRKGVPIQTPREHSWISC
FT KKEFEANP -> LVNGKGSLSRPQESILGSLARKNLRRIHRVSLVMCVRPLSPSKAIIS
FT PVTCMYTSRWPEASEESQKK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_041094"
FT CONFLICT 27
FT /note="R -> G (in Ref. 1; AAD33288)"
FT /evidence="ECO:0000305"
FT CONFLICT 85
FT /note="G -> W (in Ref. 1; AAD33288)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 114 AA; 12913 MW; 354B823F63F2E229 CRC64;
MFGACYKQPL KPSGSEPPAE ECRMTPRHAG CDVTEMQRIL SQPTFTEHLL RAVCTKLANM
YSTSTDCREH CRRGMKAKQL KAEAGRSCQR KGVPIQTPRE HSWISCKKEF EANP
