HV383_HUMAN
ID HV383_HUMAN Reviewed; 115 AA.
AC P0DTE1;
DT 12-AUG-2020, integrated into UniProtKB/Swiss-Prot.
DT 12-AUG-2020, sequence version 1.
DT 25-MAY-2022, entry version 7.
DE RecName: Full=Probable non-functional immunoglobulin heavy variable 3-38-3 {ECO:0000305};
DE Flags: Precursor;
GN Name=IGHV3-38-3 {ECO:0000303|PubMed:11340299, ECO:0000303|Ref.4,
GN ECO:0000312|HGNC:HGNC:5629};
GN Synonyms=IGHV3-D {ECO:0000303|PubMed:23541343};
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 [GENOMIC DNA] (IMGT ALLELE IGHV3-38-3*01).
RX PubMed=23541343; DOI=10.1016/j.ajhg.2013.03.004;
RA Watson C.T., Steinberg K.M., Huddleston J., Warren R.L., Malig M.,
RA Schein J., Willsey A.J., Joy J.B., Scott J.K., Graves T.A., Wilson R.K.,
RA Holt R.A., Eichler E.E., Breden F.;
RT "Complete haplotype sequence of the human immunoglobulin heavy-chain
RT variable, diversity, and joining genes and characterization of allelic and
RT copy-number variation.";
RL Am. J. Hum. Genet. 92:530-546(2013).
RN [2]
RP CHARACTERIZATION.
RX PubMed=9619395; DOI=10.1159/000019049;
RA Lefranc M.P.;
RT "IMGT (ImMunoGeneTics) locus on focus. A new section of Experimental and
RT Clinical Immunogenetics.";
RL Exp. Clin. Immunogenet. 15:1-7(1998).
RN [3]
RP NOMENCLATURE.
RX PubMed=11340299; DOI=10.1159/000049189;
RA Lefranc M.P.;
RT "Nomenclature of the human immunoglobulin heavy (IGH) genes.";
RL Exp. Clin. Immunogenet. 18:100-116(2001).
RN [4]
RP NOMENCLATURE.
RA Lefranc M.P., Lefranc G.;
RT "The Immunoglobulin FactsBook.";
RL (In) Lefranc M.P., Lefranc G. (eds.);
RL The Immunoglobulin FactsBook., pp.1-458, Academic Press, London. (2001).
RN [5]
RP REVIEW ON SOMATIC HYPERMUTATION.
RX PubMed=17576170; DOI=10.1146/annurev.genet.41.110306.130340;
RA Teng G., Papavasiliou F.N.;
RT "Immunoglobulin somatic hypermutation.";
RL Annu. Rev. Genet. 41:107-120(2007).
RN [6]
RP REVIEW ON IMMUNOGLOBULINS.
RX PubMed=20176268; DOI=10.1016/j.jaci.2009.09.046;
RA Schroeder H.W. Jr., Cavacini L.;
RT "Structure and function of immunoglobulins.";
RL J. Allergy Clin. Immunol. 125:S41-S52(2010).
RN [7]
RP REVIEW ON FUNCTION.
RX PubMed=22158414; DOI=10.1038/nri3128;
RA McHeyzer-Williams M., Okitsu S., Wang N., McHeyzer-Williams L.;
RT "Molecular programming of B cell memory.";
RL Nat. Rev. Immunol. 12:24-34(2012).
RN [8]
RP NOMENCLATURE.
RX PubMed=24600447; DOI=10.3389/fimmu.2014.00022;
RA Lefranc M.P.;
RT "Immunoglobulin and T Cell Receptor Genes: IMGT((R)) and the Birth and Rise
RT of Immunoinformatics.";
RL Front. Immunol. 5:22-22(2014).
CC -!- FUNCTION: Probable non-functional open reading frame (ORF) of V region
CC of the variable domain of immunoglobulin heavy chains
CC (PubMed:24600447). Non-functional ORF generally cannot participate in
CC the synthesis of a productive immunoglobulin chain due to altered V-
CC (D)-J or switch recombination and/or splicing site (at mRNA level)
CC and/or conserved amino acid change (protein level) (PubMed:9619395).
CC Immunoglobulins, also known as antibodies, are membrane-bound or
CC secreted glycoproteins produced by B lymphocytes. In the recognition
CC phase of humoral immunity, the membrane-bound immunoglobulins serve as
CC receptors which, upon binding of a specific antigen, trigger the clonal
CC expansion and differentiation of B lymphocytes into immunoglobulins-
CC secreting plasma cells. Secreted immunoglobulins mediate the effector
CC phase of humoral immunity, which results in the elimination of bound
CC antigens (PubMed:22158414, PubMed:20176268). The antigen binding site
CC is formed by the variable domain of one heavy chain, together with that
CC of its associated light chain. Thus, each immunoglobulin has two
CC antigen binding sites with remarkable affinity for a particular
CC antigen. The variable domains are assembled by a process called V-(D)-J
CC rearrangement and can then be subjected to somatic hypermutations
CC which, after exposure to antigen and selection, allow affinity
CC maturation for a particular antigen (PubMed:20176268, PubMed:17576170,
CC PubMed:22158414, PubMed:24600447). {ECO:0000303|PubMed:17576170,
CC ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414,
CC ECO:0000303|PubMed:24600447, ECO:0000303|PubMed:9619395}.
CC -!- SUBUNIT: Immunoglobulins are composed of two identical heavy chains and
CC two identical light chains; disulfide-linked.
CC {ECO:0000303|PubMed:20176268}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:20176268,
CC ECO:0000303|PubMed:22158414}. Cell membrane
CC {ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.
CC -!- POLYMORPHISM: There are several alleles. The sequence shown is that of
CC IMGT allele IGHV3-38-3*01. {ECO:0000305}.
CC -!- CAUTION: Most probably a non-functional protein that cannot participate
CC to the synthesis of a productive immunoglobulin chain due to an altered
CC splicing site (PubMed:9619395). Watson et al (PubMed:23541343)
CC identified this gene on chromosome 14. However, it is not currently
CC present on the reference genome assembly (GRCh38/hg38).
CC {ECO:0000303|PubMed:9619395, ECO:0000305}.
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DR EMBL; KF698732; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; P0DTE1; -.
DR SMR; P0DTE1; -.
DR MassIVE; P0DTE1; -.
DR PeptideAtlas; P0DTE1; -.
DR GeneCards; IGHV3-38-3; -.
DR HGNC; HGNC:5629; IGHV3-38-3.
DR neXtProt; NX_P0DTE1; -.
DR Proteomes; UP000005640; Unplaced.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0019814; C:immunoglobulin complex; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
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; IPR013106; Ig_V-set.
DR Pfam; PF07686; V-set; 1.
DR SMART; SM00406; IGv; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Adaptive immunity; Cell membrane; Disulfide bond; Immunity; Immunoglobulin;
KW Immunoglobulin domain; Membrane; Reference proteome; Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..115
FT /note="Probable non-functional immunoglobulin heavy
FT variable 3-38-3"
FT /evidence="ECO:0000255"
FT /id="PRO_0000450573"
FT DOMAIN 31..>115
FT /note="Ig-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 41..113
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT NON_TER 115
SQ SEQUENCE 115 AA; 12672 MW; ADDB4AB976A8B751 CRC64;
MQFVLSWVFL VAILKGVQCE VQLVESRGVL VQPGGSLRLS CAASGFTVSS NEMSWVRQAP
GKGLEWVSSI SGGSTYYADS RKGRFTISRD NSKNTLHLQM NSLRAEDTAV YYCKK
